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103 results on '"Yamamoto, Shinya"'

1. Visualization of intracellular ATP dynamics in different nephron segments under pathophysiological conditions using the kidney slice culture system

Author: Yamamoto, Shigenori, Yamamoto, Shinya, Takahashi, Masahiro, Mii, Akiko, Okubo, Akihiro, Toriu, Naoya, Nakagawa, Shunsaku, Abe, Takaaki, Fukuma, Shingo, Imamura, Hiromi, Yamamoto, Masamichi, Yanagita, Motoko, Yamamoto, Shigenori, Yamamoto, Shinya, Takahashi, Masahiro, Mii, Akiko, Okubo, Akihiro, Toriu, Naoya, Nakagawa, Shunsaku, Abe, Takaaki, Fukuma, Shingo, Imamura, Hiromi, Yamamoto, Masamichi, and Yanagita, Motoko
Abstract: ATP depletion plays a central role in the pathogenesis of kidney diseases. Recently, we reported spatiotemporal intracellular ATP dynamics during ischemia reperfusion (IR) using GO-ATeam2 mice systemically expressing an ATP biosensor. However, observation from the kidney surface did not allow visualization of deeper nephrons or accurate evaluation of ATP synthesis pathways. Here, we established a novel ATP imaging system using slice culture of GO-ATeam2 mouse kidneys, evaluated the ATP synthesis pathway, and analyzed intracellular ATP dynamics using an ex vivo IR-mimicking model and a cisplatin nephropathy model. Proximal tubules (PTs) were found to be strongly dependent on oxidative phosphorylation (OXPHOS) using the inhibitor oligomycin A, whereas podocytes relied on both OXPHOS and glycolysis using phloretin an active transport inhibitor of glucose. We also confirmed that an ex vivo IR-mimicking model could recapitulate ATP dynamics in vivo; ATP recovery in PTs after reoxygenation varied depending on anoxic time length, whereas ATP in distal tubules (DTs) recovered well even after long-term anoxia. After cisplatin administration, ATP levels in PTs decreased first, followed by a decrease in DTs. An organic cation transporter 2 inhibitor, cimetidine, suppressed cisplatin uptake in kidney slices, leading to better ATP recovery in PTs, but not in DTs. Finally, we confirmed that a mitochondria protection reagent (Mitochonic Acid 5) delayed the cisplatin-induced ATP decrease in PTs. Thus, our novel system may provide new insights into the energy dynamics and pathogenesis of kidney disease.
Published: 2024

2. Development of reinforced concrete column with embedded concrete hinge and lateral restraints for Anti-Catastrophe oriented design

Author: 80882133, 10283623, Uemura, Keita, Goto, Kento, Yamamoto, Shinya, Takahashi, Yoshikazu, 80882133, 10283623, Uemura, Keita, Goto, Kento, Yamamoto, Shinya, and Takahashi, Yoshikazu
Abstract: In Japan, since the 2011 Tohoku Earthquake, there has been a growing interest in addressing earthquakes that exceed design assumptions. Consequently, the concept of “anti-catastrophe” has been proposed as a new approach to the seismic design of infrastructures. This approach necessitates considering the conditions after significant structural damage, a concept not explicitly addressed in current seismic design codes. This study proposes two types of reinforced concrete (RC) columns: Embedded Concrete Hinge RC column (ECH-RC) and Embedded Concrete Hinge unbonded bar RC column (ECH-UBRC) to minimize the uncertainty of failure behaviors of RC columns during Beyond Design-Basis Events (BDBE) while ensuring high ductility during Design-Basis Events (DBE). ECH-RC features a Mesnager hinge embedded at its base, while ECH-UBRC incorporates unbonded high-strength bars in addition to a Mesnager hinge. ECH-RC and ECH-UBRC are designed for bridge columns subjected to low axial loads. To ensure the stability of the entire bridge structure during BDBE, providing lateral restraints at large displacements is essential. Results from cyclic loading tests revealed that embedded Mesnager hinges effectively prevented the uncontrollable failure of RC columns during BDBE by limiting axial and shear deformation at the plastic hinge, while the unbonded bars enhanced the stability of RC columns.
Published: 2023

3. The evolution of prestige: Perspectives and hypotheses from comparative studies

Author: 40585767, Lee, Sok Hwan, Yamamoto, Shinya, 40585767, Lee, Sok Hwan, and Yamamoto, Shinya
Abstract: In this review, we reorganize the concept and highlight the importance of prestige in humans and non-human animals by introducing key characteristics of dominance and prestige and related theories. Previous studies with non-human animals have mainly focused on dominance, presuming prestige as a human-unique social trait. However, to deepen our understanding of the evolution of prestige, comparative studies with non-human animals, especially our evolutionary closest relatives, chimpanzees and bonobos, are essential. We propose the direction of future studies to investigate how prestige has emerged as a viable strategy for gaining social rank while diverging from dominance, which will establish a foundation for investigating the impact of prestige on propensities towards large-scale cooperation and cumulative culture which are still considered unique to humans. Such comparative viewpoints on prestige, along with some hypotheses of species differences, will provide powerful guidance for understanding the evolution of social hierarchies.
Published: 2023

4. UbiREMOTE: framework for remotely controlling networked appliances through interaction with 3D virtual space

Author: Kiyokawa, Kohta, Yamamoto, Shinya, Shibata, Naoki, Yasumoto, Keiichi, Ito, Minoru, Kiyokawa, Kohta, Yamamoto, Shinya, Shibata, Naoki, Yasumoto, Keiichi, and Ito, Minoru
Abstract: In this paper, we propose a framework named ``UbiREMOTE'' for controlling information appliances connected to a home network with a unified and intuitive user interface from a remote place.The UbiREMOTE framework provides users with a way to control appliances in a home through a virtual space drawn on a mobile terminal screen which reflects the latest conditions of the real appliances and the rooms in the home. With UbiREMOTE, a user controls appliances by (1) moving to the front of an appliance, (2) choosing the appliance to control and (3) pushing buttons on the virtual remote controller which imitates the real remote controller for the appliance or the real console.In this paper, we propose a method to improve the drawing speed of 3D virtual space on mobile terminals and a method for automatically reflecting condition changes of the real space in the virtual space.We implemented the methods and evaluated the performance. The results showed that the proposed methods can be practically used on small mobile terminals., MMSys '10 : first annual ACM SIGMM conference on Multimedia systems , Feb 22-23, 2010 , Phoenix, Arizona, USA
Published: 2023

5. UbiREAL: Realistic Smartspace Simulator for Systematic Testing

Author: Nishikawa, Hiroshi, Yamamoto, Shinya, Tamai, Morihiko, Nishigaki, Kouji, Kitani, Tomoya, Shibata, Naoki, Yasumoto, Keiichi, Ito, Minoru, Nishikawa, Hiroshi, Yamamoto, Shinya, Tamai, Morihiko, Nishigaki, Kouji, Kitani, Tomoya, Shibata, Naoki, Yasumoto, Keiichi, and Ito, Minoru
Abstract: In this paper, we propose a simulator for facilitating reliable and inexpensive development of ubiquitous applications where each application software controls a lot of information appliances based on the state of external environment, user’s contexts and preferences. The proposed simulator realistically reproduces behavior of application software on virtual devices in a virtual 3D space. For this purpose, the simulator provides functions to facilitate deployment of virtual devices in a 3D space, simulates communication among the devices from MAC level to application level, and reproduces the change of physical quantities (e.g., temperature) caused by devices (e.g., air conditioners). Also, we keep software portability between virtual devices and real devices. As the most prominent function of the simulator, we provide a systematic and visual testing method for testing whether a given application software satisfies specified requirements., UbiComp 2006 : 8th International Conference on Ubiquitous Computing , Sep 17-21, 2006 , Orange County, CA, USA
Published: 2023

6. Cheat detection for MMORPG on P2P environments

Author: Izaiku, Takato, Yamamoto, Shinya, Murata, Yoshihiro, Shibata, Naoki, Yasumoto, Keiichi, Ito, Minoru, Izaiku, Takato, Yamamoto, Shinya, Murata, Yoshihiro, Shibata, Naoki, Yasumoto, Keiichi, and Ito, Minoru
Abstract: In this paper, we propose a new method for detecting cheat in P2P-based MMORPG. We suppose a typical P2P-based event delivery architecture where the entire game space is divided into subareas and a responsible node (selected from player terminals) delivers each event happened in the sub-area to player nodes there every predetermined time interval called timeslot. In the proposed method, we introduce multiple monitor nodes (selected from player terminals) which monitor the game state and detect cheat when it happens. In order to allow monitor nodes to track the correct game states for the corresponding subarea, we let monitor nodes and a responsible node retain a random number seed and player nodes send their events not only to responsible node but also monitor nodes so that the monitor nodes and the responsible node can uniquely calculate the latest game state from the previous game state and game events which happened during the current timeslot. Either responsible node, monitor nodes or player nodes can detect cheat by comparing hash values of game state which are retained by those nodes periodically, and role back events happened since the last correct game state. Through experiments in PlanetLab, we show that our method achieves practical performance to detect cheats., NetGames'06 : 5th ACM SIGCOMM workshop on Network and system support for games , Oct 30-31, 2006 , Singapore
Published: 2023

7. A comprehensive Drosophila resource to identify key functional interactions between SARS-CoV-2 factors and host proteins.

Author: Guichard, Annabel, Guichard, Annabel, Lu, Shenzhao, Kanca, Oguz, Bressan, Daniel, Huang, Yan, Ma, Mengqi, Sanz Juste, Sara, Andrews, Jonathan, Jay, Kristy, Sneider, Marketta, Schwartz, Ruth, Huang, Mei-Chu, Bei, Danqing, Pan, Hongling, Ma, Liwen, Lin, Wen-Wen, Bhagwat, Pranjali, Park, Soo, Wan, Kenneth, Ohsako, Takashi, Takano-Shimizu, Toshiyuki, Celniker, Susan, Wangler, Michael, Yamamoto, Shinya, Bellen, Hugo, Bier, Ethan, Auradkar, Ankush, Guichard, Annabel, Guichard, Annabel, Lu, Shenzhao, Kanca, Oguz, Bressan, Daniel, Huang, Yan, Ma, Mengqi, Sanz Juste, Sara, Andrews, Jonathan, Jay, Kristy, Sneider, Marketta, Schwartz, Ruth, Huang, Mei-Chu, Bei, Danqing, Pan, Hongling, Ma, Liwen, Lin, Wen-Wen, Bhagwat, Pranjali, Park, Soo, Wan, Kenneth, Ohsako, Takashi, Takano-Shimizu, Toshiyuki, Celniker, Susan, Wangler, Michael, Yamamoto, Shinya, Bellen, Hugo, Bier, Ethan, and Auradkar, Ankush
Abstract: Development of effective therapies against SARS-CoV-2 infections relies on mechanistic knowledge of virus-host interface. Abundant physical interactions between viral and host proteins have been identified, but few have been functionally characterized. Harnessing the power of fly genetics, we develop a comprehensive Drosophila COVID-19 resource (DCR) consisting of publicly available strains for conditional tissue-specific expression of all SARS-CoV-2 encoded proteins, UAS-human cDNA transgenic lines encoding established host-viral interacting factors, and GAL4 insertion lines disrupting fly homologs of SARS-CoV-2 human interacting proteins. We demonstrate the utility of the DCR to functionally assess SARS-CoV-2 genes and candidate human binding partners. We show that NSP8 engages in strong genetic interactions with several human candidates, most prominently with the ATE1 arginyltransferase to induce actin arginylation and cytoskeletal disorganization, and that two ATE1 inhibitors can reverse NSP8 phenotypes. The DCR enables parallel global-scale functional analysis of SARS-CoV-2 components in a prime genetic model system.
Published: 2023

8. Deep Learning for Automatic Detection and Facial Recognition in Japanese Macaques: Illuminating Social Networks

Author: Paulet, Julien, Molina, Axel, Beltzung, Benjamin, Suzumura, Takafumi, Yamamoto, Shinya, Sueur, Cédric, Paulet, Julien, Molina, Axel, Beltzung, Benjamin, Suzumura, Takafumi, Yamamoto, Shinya, and Sueur, Cédric
Abstract: Individual identification plays a pivotal role in ecology and ethology, notably as a tool for complex social structures understanding. However, traditional identification methods often involve invasive physical tags and can prove both disruptive for animals and time-intensive for researchers. In recent years, the integration of deep learning in research offered new methodological perspectives through automatization of complex tasks. Harnessing object detection and recognition technologies is increasingly used by researchers to achieve identification on video footage. This study represents a preliminary exploration into the development of a non-invasive tool for face detection and individual identification of Japanese macaques (Macaca fuscata) through deep learning. The ultimate goal of this research is, using identifications done on the dataset, to automatically generate a social network representation of the studied population. The current main results are promising: (i) the creation of a Japanese macaques' face detector (Faster-RCNN model), reaching a 82.2% accuracy and (ii) the creation of an individual recognizer for K{\=o}jima island macaques population (YOLOv8n model), reaching a 83% accuracy. We also created a K{\=o}jima population social network by traditional methods, based on co-occurrences on videos. Thus, we provide a benchmark against which the automatically generated network will be assessed for reliability. These preliminary results are a testament to the potential of this innovative approach to provide the scientific community with a tool for tracking individuals and social network studies in Japanese macaques.
Published: 2023

9. Oxytocin promotes species-relevant outgroup attention in bonobos and chimpanzees

Author: 40585767, Brooks, James, Kano, Fumihiro, Kawaguchi, Yuri, Yamamoto, Shinya, 40585767, Brooks, James, Kano, Fumihiro, Kawaguchi, Yuri, and Yamamoto, Shinya
Abstract: Previous research has found that oxytocin (OT) is associated with intergroup behaviour in humans as well as wild chimpanzees, and that exogenous OT affects Pan social attention. The two Pan species, bonobos and chimpanzees, differ drastically from one another in their intensity of intergroup competition, with lethal intergroup aggression often led by males in chimpanzees and more tolerant associations often centered around females in bonobos. However, it remains unclear how exogenous OT changes the two species' responses to ingroup and outgroup individuals. In this study, after intranasal administration of nebulized OT or placebo control, chimpanzees and bonobos viewed image pairs of ingroup and outgroup conspecifics while their eye movements were tracked with an eye-tracker. Although the overall effect of OT was small, we found that OT shifted bonobos' and chimpanzees' attention to outgroup images of the sex primarily involved in intergroup encounters in each species. Specifically, OT selectively shifted attention towards outgroup photos of female conspecifics in bonobos, and those of outgroup male conspecifics in chimpanzees. This suggests that OT generally promotes outgroup attention in both bonobos and chimpanzees but this effect is restricted to the sex most relevant in intergroup relations. These results suggest that, although OT may have a generally conserved role in hominid intergroup behaviour, it may act in species-relevant ways under the influence of their socio-ecological backgrounds.
Published: 2022

10. Population Characteristics of Feral Horses Impacted by Anthropogenic Factors and Their Management Implications

Author: 40585767, 80396225, Mendonça, Renata S., Pinto, Pandora, Maeda, Tamao, Inoue, Sota, Ringhofer, Monamie, Yamamoto, Shinya, Hirata, Satoshi, 40585767, 80396225, Mendonça, Renata S., Pinto, Pandora, Maeda, Tamao, Inoue, Sota, Ringhofer, Monamie, Yamamoto, Shinya, and Hirata, Satoshi
Abstract: Feral horses form relatively stable harems over time that are characterized by long-lasting bonds among their members, a characteristic that makes them an exceptional case of a social system among terrestrial ungulates. Their social system has been described as uniform despite the wide differences in their environment and demography. Horse populations subjected to human interference often show higher levels of population instability that can ultimately compromise their reproductive success. In this article, we describe demographic and dynamic changes of a Portuguese population of Garranos in Serra d’Arga (SA), which is impacted by human and predation pressures, over six breeding seasons. Furthermore, we tested several hypotheses related to the impact of anthropogenic disturbance on the structure and dynamics of this population. Our results revealed that the SA population had relatively little human interference at the start of the project in 2016. This was supported by the natural composition of the herd (total number of individuals, 206), which consisted of several single- and multi-male harems (n = 17 and 7, respectively) and bachelor males (n = 9). However, from 2017 to 2021, SA’s Garrano population suffered a drastic decline. Approximately two-thirds of the individuals and all bachelor males disappeared, and 76% of adult female transfers occurred after the death or disappearance of the harem male. Predatory pressures and poor management of the population, which allowed illegal human interference, contributed to this population crisis. A low population growth rate, reduced birth and foal survival rates, in addition to a delayed primiparous age were observed in this population and exacerbated after its drastic decline; suggesting the viability and survival of this Garrano population were compromised. Investigating the population demographic changes and their causes and consequences can provide guidelines for managing populations and help fight the extinction of ho
Published: 2022

11. The evolution of group-mindedness: comparative research on top-down and bottom-up group cooperation in bonobos and chimpanzees

Author: 40585767, Brooks, James, Yamamoto, Shinya, 40585767, Brooks, James, and Yamamoto, Shinya
Abstract: Humans engage in a wide variety of group-based cooperation and competition, the cognitive underpinnings of which form "group-mindedness.” The evolutionary basis of these tendencies has attracted significant research from theorists and human-oriented scholars, where evidence suggests a different set of strategies and solutions may be required for explicitly group-based challenges than simply an accumulation of dyadic and triadic solutions embedded in a group setting. We term these top-down and bottom-up group cooperation, respectively. Here, we review previous evolutionary accounts for human group-mindedness, empirical data on bonobos and chimpanzees (focusing on behaviour, cognition, and physiology), and propose a set of future research directions that can help to further our understanding of the evolution of group-mindedness
Published: 2022

12. Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases

Author: Marcogliese, Paul C., Deal, Samantha L., Andrews, Jonathan, Harnish, J. Michael, Bhavana, V. Hemanjani, Graves, Hillary K., Jangam, Sharayu, Luo, Xi, Liu, Ning, Bei, Danqing, Hull, Brooke, Pan, Hongling, Bhadane, Pradnya, Longley, Colleen M., Haelterman, Nele A., Kanca, Oguz, Manivannan, Sathiya N., Rossetti, Linda Z., German, Ryan J., Gerard, Amanda, Schwaibold, Eva Maria Christina, Fehr, Sarah, Guerrini, Renzo, Vetro, Annalisa, England, Eleina, Murali, Chaya N., Barakat, Tahsin Stefan, van Dooren, Marieke F., Wilke, Martina, van Slegtenhorst, Marjon, Lesca, Gaetan, Sabatier, Isabelle, Chatron, Nicolas, Brownstein, Catherine A., Madden, Jill A., Agrawal, Pankaj B., Keren, Boris, Courtin, Thomas, Perrin, Laurence, Brugger, Melanie, Roser, Timo, Leiz, Steffen, Mau-Them, Frederic Tran, Delanne, Julian, Sukarova-Angelovska, Elena, Trajkova, Slavica, Rosenhahn, Erik, Strehlow, Vincent, Platzer, Konrad, Keller, Roberto, Pavinato, Lisa, Brusco, Alfredo, Rosenfeld, Jill A., Marom, Ronit, Wangler, Michael F., Yamamoto, Shinya, Marcogliese, Paul C., Deal, Samantha L., Andrews, Jonathan, Harnish, J. Michael, Bhavana, V. Hemanjani, Graves, Hillary K., Jangam, Sharayu, Luo, Xi, Liu, Ning, Bei, Danqing, Hull, Brooke, Pan, Hongling, Bhadane, Pradnya, Longley, Colleen M., Haelterman, Nele A., Kanca, Oguz, Manivannan, Sathiya N., Rossetti, Linda Z., German, Ryan J., Gerard, Amanda, Schwaibold, Eva Maria Christina, Fehr, Sarah, Guerrini, Renzo, Vetro, Annalisa, England, Eleina, Murali, Chaya N., Barakat, Tahsin Stefan, van Dooren, Marieke F., Wilke, Martina, van Slegtenhorst, Marjon, Lesca, Gaetan, Sabatier, Isabelle, Chatron, Nicolas, Brownstein, Catherine A., Madden, Jill A., Agrawal, Pankaj B., Keren, Boris, Courtin, Thomas, Perrin, Laurence, Brugger, Melanie, Roser, Timo, Leiz, Steffen, Mau-Them, Frederic Tran, Delanne, Julian, Sukarova-Angelovska, Elena, Trajkova, Slavica, Rosenhahn, Erik, Strehlow, Vincent, Platzer, Konrad, Keller, Roberto, Pavinato, Lisa, Brusco, Alfredo, Rosenfeld, Jill A., Marom, Ronit, Wangler, Michael F., and Yamamoto, Shinya
Abstract: Individuals with autism spectrum disorder (ASD) exhibit an increased burden of de novo mutations (DNMs) in a broadening range of genes. While these studies have implicated hundreds of genes in ASD pathogenesis, which DNMs cause functional consequences in vivo remains unclear. We functionally test the effects of ASD missense DNMs using Drosophila through humanizationrescue and overexpression-based strategies. We examine 79 ASD variants in 74 genes identified in the Simons Simplex Collection and find 38% of them to cause functional alterations. Moreover, we identify GLRA2 as the cause of a spectrum of neurodevelopmental phenotypes beyond ASD in 13 previously undiagnosed subjects. Functional characterization of variants in ASD candidate genes points to conserved neurobiological mechanisms and facilitates gene discovery for rare neurodevelopmental diseases.
Published: 2022

13. Spatiotemporal ATP Dynamics during AKI Predict Renal Prognosis

Author: Yamamoto, Shinya and Yamamoto, Shinya
Published: 2021

14. Uniting against a common enemy: Perceived outgroup threat elicits ingroup cohesion in chimpanzees

Author: 40585767, Brooks, James, Onishi, Ena, Clark, Isabelle R., Bohn, Manuel, Yamamoto, Shinya, 40585767, Brooks, James, Onishi, Ena, Clark, Isabelle R., Bohn, Manuel, and Yamamoto, Shinya
Abstract: Outgroup threat has been identified as an important driver of ingroup cohesion in humans, but the evolutionary origin of such a relationship is unclear. Chimpanzees (Pan troglodytes) in the wild are notably aggressive towards outgroup members but coordinate complex behaviors with many individuals in group hunting and border patrols. One hypothesis claims that these behaviors evolve alongside one another, where outgroup threat selects for ingroup cohesion and group coordination. To test this hypothesis, 5 groups of chimpanzees (N = 29 individuals) were observed after hearing either pant-hoots of unfamiliar wild chimpanzees or control crow vocalizations both in their typical daily environment and in a context of induced feeding competition. We observed a behavioral pattern that was consistent both with increased stress and vigilance (self-directed behaviors increased, play decreased, rest decreased) and increased ingroup cohesion (interindividual proximity decreased, aggression over food decreased, and play during feeding competition increased). These results support the hypothesis that outgroup threat elicits ingroup tolerance in chimpanzees. This suggests that in chimpanzees, like humans, competition between groups fosters group cohesion.
Published: 2021

15. Aerial drone observations identified a multilevel society in feral horses

Author: 80396225, 40585767, Maeda, Tamao, Ochi, Sakiho, Ringhofer, Monamie, Sosa, Sebastian, Sueur, Cédric, Hirata, Satoshi, Yamamoto, Shinya, 80396225, 40585767, Maeda, Tamao, Ochi, Sakiho, Ringhofer, Monamie, Sosa, Sebastian, Sueur, Cédric, Hirata, Satoshi, and Yamamoto, Shinya
Abstract: The study of non-human multilevel societies can give us insights into how group-level relationships function and are maintained in a social system, but their mechanisms are still poorly understood. The aim of this study was to apply spatial association data obtained from drones to verify the presence of a multilevel structure in a feral horse society. We took aerial photos of individuals that appeared in pre-fixed areas and collected positional data. The threshold distance of the association was defined based on the distribution pattern of the inter-individual distance. The association rates of individuals showed bimodality, suggesting the presence of small social organizations or “units”. Inter-unit distances were significantly smaller than those in randomly replaced data, which showed that units associate to form a higher-level social organization or “herd”. Moreover, this herd had a structure where large mixed-sex units were more likely to occupy the center than small mixed-sex units and all-male-units, which were instead on the periphery. These three pieces of evidence regarding the existence of units, unit association, and stable positioning among units strongly indicated a multilevel structure in horse society. The present study contributes to understanding the functions and mechanisms of multilevel societies through comparisons with other social indices and models as well as cross-species comparisons in future studies.
Published: 2021

16. Divergent effects of oxytocin on eye contact in bonobos and chimpanzees

Author: 90396226, 40585767, Brooks, James, Kano, Fumihiro, Sato, Yutaro, Yeow, Hanling, Morimura, Naruki, Nagasawa, Miho, Kikusui, Takefumi, Yamamoto, Shinya, 90396226, 40585767, Brooks, James, Kano, Fumihiro, Sato, Yutaro, Yeow, Hanling, Morimura, Naruki, Nagasawa, Miho, Kikusui, Takefumi, and Yamamoto, Shinya
Abstract: Oxytocin has drawn significant research attention for its role in modulating mammalian social behavior. Despite generally conserved roles, oxytocin can function differently even in closely related species. Previous studies have shown that bonobos and chimpanzees, humans’ two closest relatives, demonstrate considerable behavioral differences, including that bonobos look more at others’ eyes than chimpanzees. Oxytocin is known to increase attention to another’s eyes in many mammalian species (e.g. dogs, monkeys, and humans), yet this effect has not been tested in any nonhuman great ape species. This study examined how intranasally-administered oxytocin affects eye contact in bonobos and chimpanzees using eye tracking. Following administration of either oxytocin or saline control with a nebulizer, chimpanzees (n = 6) and bonobos (n = 5) were shown images of conspecific faces while their eye movement was recorded. Oxytocin changed the eye-looking behavior of bonobos and chimpanzees differently. We found that oxytocin increased eye contact in bonobos but not chimpanzees; while one chimpanzee showed an increase, interestingly, 5 out of 6 chimpanzees showed decreased looking to the eyes compared to the mouth, suggesting moderate eye avoidance. Given the importance of eye contact in their social interactions, our results suggest that oxytocin may play modulatory roles in bonobos’ and chimpanzees’ species-specific social behavior and underscore the importance of oxytocin in hominid social evolution.
Published: 2021

17. Response: Commentary: Dog Stick Chewing: An Overlooked Instance of Tool Use?

Author: 40585767, Brooks, James, Yamamoto, Shinya, 40585767, Brooks, James, and Yamamoto, Shinya
Published: 2021

18. The Successful Treatment of a Case of HCV-associated Cryoglobulinemic Glomerulonephritis with Rituximab, Direct-acting Antiviral Agents, Plasmapheresis and Long-term Steroid Despite Serologically Persistent Cryoglobulinemia

Author: 90837105, 70378769, Muro, Koji, Toda, Naohiro, Yamamoto, Shinya, Yanagita, Motoko, 90837105, 70378769, Muro, Koji, Toda, Naohiro, Yamamoto, Shinya, and Yanagita, Motoko
Abstract: Novel treatments with rituximab or direct-acting antiviral agents (DAAs) were expected to improve the clinical outcomes of hepatitis C virus (HCV)-associated cryoglobulinemia in the last decade. Recently, however, persistent cases of cryoglobulinemia have been reported, and the ideal approach to treating such cases has not been established. We herein report a case of the successful treatment of HCV-associated cryoglobulinemic glomerulonephritis with rituximab, DAAs, occasional plasmapheresis and long-term steroid, with the patient's renal function and proteinuria improving over the long term despite serologically persistent cryoglobulinemia. This case suggests the efficacy of combination treatment with rituximab, DAAs, occasional plasmapheresis and long-term steroid for persistent cryoglobulinemia.
Published: 2021

19. Dog Stick Chewing: An Overlooked Instance of Tool Use?

Author: 40585767, Brooks, James, Yamamoto, Shinya, 40585767, Brooks, James, and Yamamoto, Shinya
Abstract: Tool use is a central topic in research on cognitive evolution and behavioral ecology in non-human animals. Originally thought to be a uniquely human phenomenon, many other species have been observed making and using tools for a variety of purposes, starting with Goodall’s (1964) groundbreaking work with chimpanzees in Gombe. Despite the frequent attention and great research interest in animal tool use, and ubiquity of the behavior, we argue here that chewing sticks by dogs (and other animals) should be included as a case of tool use. We discuss alternate possible explanations and then propose several testable predictions regarding this hypothesis. We suggest that tool use may be more common than is often assumed and that many cases of animal tool use may be overlooked.
Published: 2021

20. “UNWILLING” VERSUS “UNABLE”: UNDERSTANDING CHIMPANZEES’ RESTRICTIONS IN COGNITION AND MOTIVATION

Author: YAMAMOTO, Shinya and YAMAMOTO, Shinya
Abstract: Human uniqueness and its evolutionary basis are explored through a comparison between humans and our closest evolutionary animals. With this approach, any behavior not demonstrated by non-human animals is considered unique to humans. We often attribute human uniqueness to a highly sophisticated cognitive ability that seemingly exists only in humans. However, even though non-human animals do not demonstrate a certain behavior, it is too early to say that they cannot demonstrate it. In this article, I introduce some examples in which chimpanzees have a cognitive basis for some social or cultural behaviors but do not perform these in their everyday lives, which urges us to consider not only cognitive restrictions but also motivational restrictions. I propose four hypotheses to explain their inaction. This type of “growth allowance” of cognitive abilities may help animals survive when they are challenged under a novel selective pressure during the exploration of a new environment.
Published: 2021

21. The founder sociality hypothesis

Author: 40585767, Brooks, James, Yamamoto, Shinya, 40585767, Brooks, James, and Yamamoto, Shinya
Abstract: In this review, we propose that the social dynamics of founder populations in novel and newly available environments can have critical effects in shaping species' sociality and can produce long-lasting changes in social structure and behavior. For founder populations which expand into an underexploited niche separated from the parent population, the necessity of bond formation with strangers, lack of clear territories, and initial abundance of resources can lead to altered initial social dynamics to which subsequent generations adapt. We call this the founder sociality hypothesis. After specifying the theoretical reasoning and mechanism of effect, we focus on three particular cases where the social dynamics of founder populations may have a central role in explaining their modern behavioral ecology. In particular, we develop and review evidence for three predictions of the founder sociality hypothesis in territorial, mixed-sex group forming species: relatively stronger social bonds in the dispersing sex with relatively weaker bonds in the nondispersing sex, reduced territoriality, and increased social tolerance. We briefly touch on the implications for human evolution given our species' evolutionary history marked by frequent expansion and adaptation to novel environments. We conclude by proposing several experiments and models with testable predictions following from the founder sociality hypothesis.
Published: 2021

22. Behavioural synchronization in a multilevel society of feral horses

Author: 80396225, 40585767, Maeda, Tamao, Sueur, Cédric, Hirata, Satoshi, Yamamoto, Shinya, 80396225, 40585767, Maeda, Tamao, Sueur, Cédric, Hirata, Satoshi, and Yamamoto, Shinya
Abstract: Behavioural synchrony among individuals is essential for group-living organisms. The functioning of synchronization in a multilevel society, which is a nested assemblage of multiple social levels between many individuals, remains largely unknown. The aim of the present study was to build a model that explained the synchronization of activity in a multilevel society of feral horses. Multi-agent-based models were used based on four hypotheses: A) horses do not synchronize, B) horses synchronize with any individual in any unit, C) horses synchronize only within units, and D) horses synchronize across and within units, but internal synchronization is stronger. The empirical data obtained from drone observations best supported hypothesis D. This result suggests that animals in a multilevel society coordinate with other conspecifics not only within a unit but also at an inter-unit level. In this case, inter-individual distances are much longer than those in most previous models which only considered local interaction within a few body lengths.
Published: 2021

23. Horses with sustained attention follow the pointing of a human who knows where food is hidden

Author: Ringhofer, Monamie, Trösch, Miléna, Lansade, Léa, Yamamoto, Shinya, Ringhofer, Monamie, Trösch, Miléna, Lansade, Léa, and Yamamoto, Shinya
Abstract: When interacting with humans, domesticated species may respond to communicative gestures, such as pointing. However, it is currently unknown, except for in dogs, if species comprehend the communicative nature of such cues. Here, we investigated whether horses could follow the pointing of a human informant by evaluating the credibility of the information about the food-hiding place provided by the pointing of two informants. Using an object-choice task, we manipulated the attentional state of the two informants during food-hiding events and differentiated their knowledge about the location of the hidden food. Furthermore, we investigated the horses’ visual attention levels towards human behaviour to evaluate the relationship between their motivation and their performance of the task. The result showed that horses that sustained high attention levels could evaluate the credibility of the information and followed the pointing of an informant who knew where food was hidden (Z = − 2.281, P = 0.002, n = 36). This suggests that horses are highly sensitive to the attentional state and pointing gestures of humans, and that they perceive pointing as a communicative cue. This study also indicates that the motivation for the task should be investigated to determine the socio-cognitive abilities of animals.
Published: 2021

24. Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11.

Author: Ravenscroft, Thomas A, Ravenscroft, Thomas A, Phillips, Jennifer B, Fieg, Elizabeth, Bajikar, Sameer S, Peirce, Judy, Wegner, Jeremy, Luna, Alia A, Fox, Eric J, Yan, Yi-Lin, Rosenfeld, Jill A, Zirin, Jonathan, Kanca, Oguz, Undiagnosed Diseases Network, Benke, Paul J, Cameron, Eric S, Strehlow, Vincent, Platzer, Konrad, Jamra, Rami Abou, Klöckner, Chiara, Osmond, Matthew, Licata, Thomas, Rojas, Samantha, Dyment, David, Chong, Josephine SC, Lincoln, Sharyn, Stoler, Joan M, Postlethwait, John H, Wangler, Michael F, Yamamoto, Shinya, Krier, Joel, Westerfield, Monte, Bellen, Hugo J, Ravenscroft, Thomas A, Ravenscroft, Thomas A, Phillips, Jennifer B, Fieg, Elizabeth, Bajikar, Sameer S, Peirce, Judy, Wegner, Jeremy, Luna, Alia A, Fox, Eric J, Yan, Yi-Lin, Rosenfeld, Jill A, Zirin, Jonathan, Kanca, Oguz, Undiagnosed Diseases Network, Benke, Paul J, Cameron, Eric S, Strehlow, Vincent, Platzer, Konrad, Jamra, Rami Abou, Klöckner, Chiara, Osmond, Matthew, Licata, Thomas, Rojas, Samantha, Dyment, David, Chong, Josephine SC, Lincoln, Sharyn, Stoler, Joan M, Postlethwait, John H, Wangler, Michael F, Yamamoto, Shinya, Krier, Joel, Westerfield, Monte, and Bellen, Hugo J
Abstract: PurposeGrowth differentiation factor 11 (GDF11) is a key signaling protein required for proper development of many organ systems. Only one prior study has associated an inherited GDF11 variant with a dominant human disease in a family with variable craniofacial and vertebral abnormalities. Here, we expand the phenotypic spectrum associated with GDF11 variants and document the nature of the variants.MethodsWe present a cohort of six probands with de novo and inherited nonsense/frameshift (4/6 patients) and missense (2/6) variants in GDF11. We generated gdf11 mutant zebrafish to model loss of gdf11 phenotypes and used an overexpression screen in Drosophila to test variant functionality.ResultsPatients with variants in GDF11 presented with craniofacial (5/6), vertebral (5/6), neurological (6/6), visual (4/6), cardiac (3/6), auditory (3/6), and connective tissue abnormalities (3/6). gdf11 mutant zebrafish show craniofacial abnormalities and body segmentation defects that match some patient phenotypes. Expression of the patients' variants in the fly showed that one nonsense variant in GDF11 is a severe loss-of-function (LOF) allele whereas the missense variants in our cohort are partial LOF variants.ConclusionGDF11 is needed for human development, particularly neuronal development, and LOF GDF11 alleles can affect the development of numerous organs and tissues.
Published: 2021

25. Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain

Author: Marbach, Felix, Stoyanov, Georgi, Erger, Florian, Stratakis, Constantine A., Settas, Nikolaos, London, Edra, Rosenfeld, Jill A., Torti, Erin, Haldeman-Englert, Chad, Sklirou, Evgenia, Kessler, Elena, Ceulemans, Sophia, Nelson, Stanley F., Martinez-Agosto, Julian A., Palmer, Christina G. S., Signer, Rebecca H., Acosta, Maria T., Adam, Margaret, Adams, David R., Agrawal, Pankaj B., Alejandro, Mercedes E., Alvey, Justin, Amendola, Laura, Andrews, Ashley, Ashley, Euan A., Azamian, Mahshid S., Bacino, Carlos A., Bademci, Guney, Baker, Eva, Balasubramanyam, Ashok, Baldridge, Dustin, Bale, Jim, Bamshad, Michael, Barbouth, Deborah, Bayrak-Toydemir, Pinar, Beck, Anita, Beggs, Alan H., Behrens, Edward, Bejerano, Gill, Bennett, Jimmy, Berg-Rood, Beverly, Bernstein, Jonathan A., Berry, Gerard T., Bican, Anna, Bivona, Stephanie, Blue, Elizabeth, Bohnsack, John, Bonnenmann, Carsten, Bonner, Devon, Botto, Lorenzo, Boyd, Brenna, Briere, Lauren C., Brokamp, Elly, Brown, Gabrielle, Burke, Elizabeth A., Burrage, Lindsay C., Butte, Manish J., Byers, Peter, Byrd, William E., Carey, John, Carrasquillo, Olveen, Chang, Ta Chen Peter, Chanprasert, Sirisak, Chao, Hsiao-Tuan, Clark, Gary D., Coakley, Terra R., Cobban, Laurel A., Cogan, Joy D., Coggins, Matthew, Cole, F. Sessions, Colley, Heather A., Cooper, Cynthia M., Cope, Heidi, Craigen, William J., Crouse, Andrew B., Cunningham, Michael, D'Souza, Precilla, Dai, Hongzheng, Dasari, Surendra, Davis, Joie, Daya, Jyoti G., Deardorff, Matthew, Dell'Angelica, Esteban C., Dhar, Shweta U., Dipple, Katrina, Doherty, Daniel, Dorrani, Naghmeh, Doss, Argenia L., Douine, Emilie D., Draper, David D., Duncan, Laura, Earl, Dawn, Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Esteves, Cecilia, Falk, Marni, Fernandez, Liliana, Ferreira, Carlos, Fieg, Elizabeth L., Findley, Laurie C., Fisher, Paul G., Fogel, Brent L., Forghani, Irman, Fresard, Laure, Gahl, William A., Glass, Ian, Gochuico, Bernadette, Godfrey, Rena A., Golden-Grant, Katie, Goldman, Alica M., Goldrich, Madison P., Goldstein, David B., Grajewski, Alana, Groden, Catherine A., Gutierrez, Irma, Hahn, Sihoun, Hamid, Rizwan, Hanchard, Neil A., Hassey, Kelly, Hayes, Nichole, High, Frances, Hing, Anne, Hisama, Fuki M., Holm, Ingrid A., Hom, Jason, Horike-Pyne, Martha, Huang, Alden, Huang, Yong, Huryn, Laryssa, Isasi, Rosario, Jamal, Fariha, Jarvik, Gail P., Jarvik, Jeffrey, Jayadev, Suman, Karaviti, Lefkothea, Kennedy, Jennifer, Kiley, Dana, Kohane, Isaac S., Kohler, Jennefer N., Korrick, Susan, Kozuira, Mary, Krakow, Deborah, Krasnewich, Donna M., Kravets, Elijah, Krier, Joel B., LaMoure, Grace L., Lalani, Seema R., Lam, Byron, Lam, Christina, Lanpher, Brendan C., Lanza, Ian R., Latham, Lea, LeBlanc, Kimberly, Lee, Brendan H., Lee, Hane, Levitt, Roy, Lewis, Richard A., Lincoln, Sharyn A., Liu, Pengfei, Liu, Xue Zhong, Longo, Nicola, Loo, Sandra K., Loscalzo, Joseph, Maas, Richard L., MacDowall, John, MacRae, Calum A., Macnamara, Ellen F., Maduro, Valerie V., Majcherska, Marta M., Mak, Bryan C., Malicdan, May Christine V., Mamounas, Laura A., Manolio, Teri A., Mao, Rong, Maravilla, Kenneth, Markello, Thomas C., Marom, Ronit, Marth, Gabor, Martin, Beth A., Martin, Martin G., Marwaha, Shruti, McCauley, Jacob, McConkie-Rosell, Allyn, McCormack, Colleen E., McCray, Alexa T., McGee, Elisabeth, Mefford, Heather, Merritt, J. Lawrence, Might, Matthew, Mirzaa, Ghayda, Morava, Eva, Moretti, Paolo M., Moretti, Paolo, Mosbrook-Davis, Deborah, Mulvihill, John J., Murdock, David R., Nagy, Anna, Nakano-Okuno, Mariko, Nath, Avi, Newman, John H., Nicholas, Sarah K., Nickerson, Deborah, Nieves-Rodriguez, Shirley, Novacic, Donna, Oglesbee, Devin, Orengo, James P., Pace, Laura, Pak, Stephen, Pallais, J. Carl, Papp, Jeanette C., Parker, Neil H., Phillips, John A., III, Posey, Jennifer E., Potocki, Lorraine, Power, Bradley, Pusey, Barbara N., Quinlan, Aaron, Raja, Archana N., Rao, Deepak A., Raskind, Wendy, Renteria, Genecee, Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Rosenwasser, Natalie, Rossignol, Francis, Ruzhnikov, Maura, Sacco, Ralph, Sampson, Jacinda B., Samson, Susan L., Saporta, Mario, Schaechter, Judy, Schedl, Timothy, Schoch, Kelly, Scott, C. Ron, Scott, Daryl A., Shashi, Vandana, Shin, Jimann, Silverman, Edwin K., Sinsheimer, Janet S., Sisco, Kathy, Smith, Edward C., Smith, Kevin S., Solem, Emily, Solnica-Krezel, Lilianna, Spillmann, Rebecca C., Stoler, Joan M., Sullivan, Jennifer A., Sullivan, Kathleen, Sun, Angela, Sutton, Shirley, Sweetser, David A., Sybert, Virginia, Tabor, Holly K., Tan, Amelia L. M., Tan, Queenie K. -G., Tekin, Mustafa, Telischi, Fred, Thorson, Willa, Thurm, Audrey, Tifft, Cynthia J., Toro, Camilo, Tran, Alyssa A., Tucker, Brianna M., Urv, Tiina K., Vanderver, Adeline, Velinder, Matt, Viskochil, Dave, Vogel, Tiphanie P., Wahl, Colleen E., Walker, Melissa, Wallace, Stephanie, Walley, Nicole M., Walsh, Chris A., Wambach, Jennifer, Wan, Jijun, Wang, Lee-kai, Wangler, Michael F., Ward, Patricia A., Wegner, Daniel, Wener, Mark, Wenger, Tara, Perry, Katherine Wesseling, Westerfield, Monte, Wheeler, Matthew T., Whitlock, Jordan, Wolfe, Lynne A., Woods, Jeremy D., Yamamoto, Shinya, Yang, John, Yousef, Muhammad, Zastrow, Diane B., Zein, Wadih, Zhao, Chunli, Zuchner, Stephan, Andrews, Marisa V., Grange, Dorothy K., Willaert, Rebecca, Person, Richard, Telegrafi, Aida, Sievers, Aaron, Laugsch, Magdalena, Theiss, Susanne, Cheng, YuZhu, Lichtarge, Olivier, Katsonis, Panagiotis, Stocco, Amber, Schaaf, Christian P., Marbach, Felix, Stoyanov, Georgi, Erger, Florian, Stratakis, Constantine A., Settas, Nikolaos, London, Edra, Rosenfeld, Jill A., Torti, Erin, Haldeman-Englert, Chad, Sklirou, Evgenia, Kessler, Elena, Ceulemans, Sophia, Nelson, Stanley F., Martinez-Agosto, Julian A., Palmer, Christina G. S., Signer, Rebecca H., Acosta, Maria T., Adam, Margaret, Adams, David R., Agrawal, Pankaj B., Alejandro, Mercedes E., Alvey, Justin, Amendola, Laura, Andrews, Ashley, Ashley, Euan A., Azamian, Mahshid S., Bacino, Carlos A., Bademci, Guney, Baker, Eva, Balasubramanyam, Ashok, Baldridge, Dustin, Bale, Jim, Bamshad, Michael, Barbouth, Deborah, Bayrak-Toydemir, Pinar, Beck, Anita, Beggs, Alan H., Behrens, Edward, Bejerano, Gill, Bennett, Jimmy, Berg-Rood, Beverly, Bernstein, Jonathan A., Berry, Gerard T., Bican, Anna, Bivona, Stephanie, Blue, Elizabeth, Bohnsack, John, Bonnenmann, Carsten, Bonner, Devon, Botto, Lorenzo, Boyd, Brenna, Briere, Lauren C., Brokamp, Elly, Brown, Gabrielle, Burke, Elizabeth A., Burrage, Lindsay C., Butte, Manish J., Byers, Peter, Byrd, William E., Carey, John, Carrasquillo, Olveen, Chang, Ta Chen Peter, Chanprasert, Sirisak, Chao, Hsiao-Tuan, Clark, Gary D., Coakley, Terra R., Cobban, Laurel A., Cogan, Joy D., Coggins, Matthew, Cole, F. Sessions, Colley, Heather A., Cooper, Cynthia M., Cope, Heidi, Craigen, William J., Crouse, Andrew B., Cunningham, Michael, D'Souza, Precilla, Dai, Hongzheng, Dasari, Surendra, Davis, Joie, Daya, Jyoti G., Deardorff, Matthew, Dell'Angelica, Esteban C., Dhar, Shweta U., Dipple, Katrina, Doherty, Daniel, Dorrani, Naghmeh, Doss, Argenia L., Douine, Emilie D., Draper, David D., Duncan, Laura, Earl, Dawn, Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Esteves, Cecilia, Falk, Marni, Fernandez, Liliana, Ferreira, Carlos, Fieg, Elizabeth L., Findley, Laurie C., Fisher, Paul G., Fogel, Brent L., Forghani, Irman, Fresard, Laure, Gahl, William A., Glass, Ian, Gochuico, Bernadette, Godfrey, Rena A., Golden-Grant, Katie, Goldman, Alica M., Goldrich, Madison P., Goldstein, David B., Grajewski, Alana, Groden, Catherine A., Gutierrez, Irma, Hahn, Sihoun, Hamid, Rizwan, Hanchard, Neil A., Hassey, Kelly, Hayes, Nichole, High, Frances, Hing, Anne, Hisama, Fuki M., Holm, Ingrid A., Hom, Jason, Horike-Pyne, Martha, Huang, Alden, Huang, Yong, Huryn, Laryssa, Isasi, Rosario, Jamal, Fariha, Jarvik, Gail P., Jarvik, Jeffrey, Jayadev, Suman, Karaviti, Lefkothea, Kennedy, Jennifer, Kiley, Dana, Kohane, Isaac S., Kohler, Jennefer N., Korrick, Susan, Kozuira, Mary, Krakow, Deborah, Krasnewich, Donna M., Kravets, Elijah, Krier, Joel B., LaMoure, Grace L., Lalani, Seema R., Lam, Byron, Lam, Christina, Lanpher, Brendan C., Lanza, Ian R., Latham, Lea, LeBlanc, Kimberly, Lee, Brendan H., Lee, Hane, Levitt, Roy, Lewis, Richard A., Lincoln, Sharyn A., Liu, Pengfei, Liu, Xue Zhong, Longo, Nicola, Loo, Sandra K., Loscalzo, Joseph, Maas, Richard L., MacDowall, John, MacRae, Calum A., Macnamara, Ellen F., Maduro, Valerie V., Majcherska, Marta M., Mak, Bryan C., Malicdan, May Christine V., Mamounas, Laura A., Manolio, Teri A., Mao, Rong, Maravilla, Kenneth, Markello, Thomas C., Marom, Ronit, Marth, Gabor, Martin, Beth A., Martin, Martin G., Marwaha, Shruti, McCauley, Jacob, McConkie-Rosell, Allyn, McCormack, Colleen E., McCray, Alexa T., McGee, Elisabeth, Mefford, Heather, Merritt, J. Lawrence, Might, Matthew, Mirzaa, Ghayda, Morava, Eva, Moretti, Paolo M., Moretti, Paolo, Mosbrook-Davis, Deborah, Mulvihill, John J., Murdock, David R., Nagy, Anna, Nakano-Okuno, Mariko, Nath, Avi, Newman, John H., Nicholas, Sarah K., Nickerson, Deborah, Nieves-Rodriguez, Shirley, Novacic, Donna, Oglesbee, Devin, Orengo, James P., Pace, Laura, Pak, Stephen, Pallais, J. Carl, Papp, Jeanette C., Parker, Neil H., Phillips, John A., III, Posey, Jennifer E., Potocki, Lorraine, Power, Bradley, Pusey, Barbara N., Quinlan, Aaron, Raja, Archana N., Rao, Deepak A., Raskind, Wendy, Renteria, Genecee, Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Rosenwasser, Natalie, Rossignol, Francis, Ruzhnikov, Maura, Sacco, Ralph, Sampson, Jacinda B., Samson, Susan L., Saporta, Mario, Schaechter, Judy, Schedl, Timothy, Schoch, Kelly, Scott, C. Ron, Scott, Daryl A., Shashi, Vandana, Shin, Jimann, Silverman, Edwin K., Sinsheimer, Janet S., Sisco, Kathy, Smith, Edward C., Smith, Kevin S., Solem, Emily, Solnica-Krezel, Lilianna, Spillmann, Rebecca C., Stoler, Joan M., Sullivan, Jennifer A., Sullivan, Kathleen, Sun, Angela, Sutton, Shirley, Sweetser, David A., Sybert, Virginia, Tabor, Holly K., Tan, Amelia L. M., Tan, Queenie K. -G., Tekin, Mustafa, Telischi, Fred, Thorson, Willa, Thurm, Audrey, Tifft, Cynthia J., Toro, Camilo, Tran, Alyssa A., Tucker, Brianna M., Urv, Tiina K., Vanderver, Adeline, Velinder, Matt, Viskochil, Dave, Vogel, Tiphanie P., Wahl, Colleen E., Walker, Melissa, Wallace, Stephanie, Walley, Nicole M., Walsh, Chris A., Wambach, Jennifer, Wan, Jijun, Wang, Lee-kai, Wangler, Michael F., Ward, Patricia A., Wegner, Daniel, Wener, Mark, Wenger, Tara, Perry, Katherine Wesseling, Westerfield, Monte, Wheeler, Matthew T., Whitlock, Jordan, Wolfe, Lynne A., Woods, Jeremy D., Yamamoto, Shinya, Yang, John, Yousef, Muhammad, Zastrow, Diane B., Zein, Wadih, Zhao, Chunli, Zuchner, Stephan, Andrews, Marisa V., Grange, Dorothy K., Willaert, Rebecca, Person, Richard, Telegrafi, Aida, Sievers, Aaron, Laugsch, Magdalena, Theiss, Susanne, Cheng, YuZhu, Lichtarge, Olivier, Katsonis, Panagiotis, Stocco, Amber, and Schaaf, Christian P.
Abstract: Purpose We characterize the clinical and molecular phenotypes of six unrelated individuals with intellectual disability and autism spectrum disorder who carry heterozygous missense variants of the PRKAR1B gene, which encodes the R1 beta subunit of the cyclic AMP-dependent protein kinase A (PKA). Methods Variants of PRKAR1B were identified by single- or trio-exome analysis. We contacted the families and physicians of the six individuals to collect phenotypic information, performed in vitro analyses of the identified PRKAR1B-variants, and investigated PRKAR1B expression during embryonic development. Results Recent studies of large patient cohorts with neurodevelopmental disorders found significant enrichment of de novo missense variants in PRKAR1B. In our cohort, de novo origin of the PRKAR1B variants could be confirmed in five of six individuals, and four carried the same heterozygous de novo variant c.1003C>T (p.Arg335Trp; NM_001164760). Global developmental delay, autism spectrum disorder, and apraxia/dyspraxia have been reported in all six, and reduced pain sensitivity was found in three individuals carrying the c.1003C>T variant. PRKAR1B expression in the brain was demonstrated during human embryonal development. Additionally, in vitro analyses revealed altered basal PKA activity in cells transfected with variant-harboring PRKAR1B expression constructs. Conclusion Our study provides strong evidence for a PRKAR1B-related neurodevelopmental disorder.
Published: 2021

26. Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11.

Author: Ravenscroft, Thomas A, Ravenscroft, Thomas A, Phillips, Jennifer B, Fieg, Elizabeth, Bajikar, Sameer S, Peirce, Judy, Wegner, Jeremy, Luna, Alia A, Fox, Eric J, Yan, Yi-Lin, Rosenfeld, Jill A, Zirin, Jonathan, Kanca, Oguz, Undiagnosed Diseases Network, Benke, Paul J, Cameron, Eric S, Strehlow, Vincent, Platzer, Konrad, Jamra, Rami Abou, Klöckner, Chiara, Osmond, Matthew, Licata, Thomas, Rojas, Samantha, Dyment, David, Chong, Josephine SC, Lincoln, Sharyn, Stoler, Joan M, Postlethwait, John H, Wangler, Michael F, Yamamoto, Shinya, Krier, Joel, Westerfield, Monte, Bellen, Hugo J, Ravenscroft, Thomas A, Ravenscroft, Thomas A, Phillips, Jennifer B, Fieg, Elizabeth, Bajikar, Sameer S, Peirce, Judy, Wegner, Jeremy, Luna, Alia A, Fox, Eric J, Yan, Yi-Lin, Rosenfeld, Jill A, Zirin, Jonathan, Kanca, Oguz, Undiagnosed Diseases Network, Benke, Paul J, Cameron, Eric S, Strehlow, Vincent, Platzer, Konrad, Jamra, Rami Abou, Klöckner, Chiara, Osmond, Matthew, Licata, Thomas, Rojas, Samantha, Dyment, David, Chong, Josephine SC, Lincoln, Sharyn, Stoler, Joan M, Postlethwait, John H, Wangler, Michael F, Yamamoto, Shinya, Krier, Joel, Westerfield, Monte, and Bellen, Hugo J
Abstract: PurposeGrowth differentiation factor 11 (GDF11) is a key signaling protein required for proper development of many organ systems. Only one prior study has associated an inherited GDF11 variant with a dominant human disease in a family with variable craniofacial and vertebral abnormalities. Here, we expand the phenotypic spectrum associated with GDF11 variants and document the nature of the variants.MethodsWe present a cohort of six probands with de novo and inherited nonsense/frameshift (4/6 patients) and missense (2/6) variants in GDF11. We generated gdf11 mutant zebrafish to model loss of gdf11 phenotypes and used an overexpression screen in Drosophila to test variant functionality.ResultsPatients with variants in GDF11 presented with craniofacial (5/6), vertebral (5/6), neurological (6/6), visual (4/6), cardiac (3/6), auditory (3/6), and connective tissue abnormalities (3/6). gdf11 mutant zebrafish show craniofacial abnormalities and body segmentation defects that match some patient phenotypes. Expression of the patients' variants in the fly showed that one nonsense variant in GDF11 is a severe loss-of-function (LOF) allele whereas the missense variants in our cohort are partial LOF variants.ConclusionGDF11 is needed for human development, particularly neuronal development, and LOF GDF11 alleles can affect the development of numerous organs and tissues.
Published: 2021

27. PROCEEDINGS OF THE 8TH JAPAN-CHINA TEACHER EDUCATION CONFERENCE

Author: The Local Organizing Committee of the 8th Japan-China Teacher Education Conference, Hyogo University of Teacher Education, Beijing Normal University, Naruto University of Education, Joetsu University of Education, SAKAGUCHI, Masayasu, TSUDA, Seisuke, IKEDA, Masafumi, YAMAMOTO, Shinya, TOKUSHIMA, Yuya, SAKAUE, Hiroaki, IZUMIMURA, Yasuji, ZHANG, Shudong, LIU, Junli, CHEN, Chunhui, ZHAO, Libo, LIU, Fan, LI, Yingtao, MORI, Yasuhiko, KINOSHITA, Mitsuji, FUJIHARA, Nobuhiko, WAKAI, Yukari, PAN, Yuejuan, YANG, Qingqing, WU, Niwen, LIU, Shanshan, FENG, Wanzhen, GU, Changwei, LI, Xiaohua, OMOTE, Akihiro, TOKIE, Noriko, VESIKULA, Adi Lamawanaivalu, YIN, Yali, SHI, Junqi, KITA, Yoko, SHIOJI, Akiko, YUJI, Hiroki, TAMURA, Takahiro, SONE, Naoto, SASAKI, Akira, YASUDA, Yoshito, AKIHARA, Yu, ODA, Toshiaki, YAMAMOTO, Tadashi, SOGABE, Akitoshi, TOKIE, Lisa, OGAWA, Miyoko, OKUMURA, Yoshimi, YOTSUMOTO, Terumichi, The Local Organizing Committee of the 8th Japan-China Teacher Education Conference, Hyogo University of Teacher Education, Beijing Normal University, Naruto University of Education, Joetsu University of Education, SAKAGUCHI, Masayasu, TSUDA, Seisuke, IKEDA, Masafumi, YAMAMOTO, Shinya, TOKUSHIMA, Yuya, SAKAUE, Hiroaki, IZUMIMURA, Yasuji, ZHANG, Shudong, LIU, Junli, CHEN, Chunhui, ZHAO, Libo, LIU, Fan, LI, Yingtao, MORI, Yasuhiko, KINOSHITA, Mitsuji, FUJIHARA, Nobuhiko, WAKAI, Yukari, PAN, Yuejuan, YANG, Qingqing, WU, Niwen, LIU, Shanshan, FENG, Wanzhen, GU, Changwei, LI, Xiaohua, OMOTE, Akihiro, TOKIE, Noriko, VESIKULA, Adi Lamawanaivalu, YIN, Yali, SHI, Junqi, KITA, Yoko, SHIOJI, Akiko, YUJI, Hiroki, TAMURA, Takahiro, SONE, Naoto, SASAKI, Akira, YASUDA, Yoshito, AKIHARA, Yu, ODA, Toshiaki, YAMAMOTO, Tadashi, SOGABE, Akitoshi, TOKIE, Lisa, OGAWA, Miyoko, OKUMURA, Yoshimi, and YOTSUMOTO, Terumichi
Abstract: A Study of the Development and Implementation of the Graduate-Level Teacher Training: In Collaboration with the Prefectural Programme / SAKAGUCHI Masayasu, TSUDA Seisuke, IKEDA Masafumi, YAMAMOTO Shinya, TOKUSHIMA Yuya, SAKAUE Hiroaki, IZUMIMURA Yasuji, A Survey of the Mental Health of Chinese Special Education Teachers / ZHANG Shudong, LIU Junli, CHEN Chunhui, ZHAO Libo, The Redefinition of Teachers’ Roles in the Age of AI:An Analysis of the Chinese Discourse / LIU Fan, LI Yingtao, Development of Micro-teaching with Reask Model and Investigation of its Effect / MORI Yasuhiko, KINOSHITA Mitsuji, FUJIHARA Nobuhiko, WAKAI Yukari, Patterns of kindergarten leaders' instructional coaching and their association with instructional leadership / PAN Yuejuan, YANG Qingqing, WU Niwen, LIU Shanshan, The Problem and Its Solving of Teaching Quality in Kindergarten Visual Arts Education and Kindergarten Teacher Education: Based on the Exploration of Pedagogical Content Knowledge / FENG Wanzhen, Teaching Research on Improving Preschool Education Students' P. E Implementation Ability from the Perspective of Core Competencies / GU Changwei, The Practice System of Peiping Preschool Education Normal School and Its Contemporary Significance / LI Xiaohua, A Classroom and Teacher Self-efficacy:Affordances for the Instructional Speech / OMOTE Akihiro, A Study of Cross-Disciplinary Learning Based Music Lesson Programs: Referencing a Case Study of an American Teacher’s College / TOKIE Noriko, The Need for Contextualization of Education for Sustainable Development (ESD) – A Study of ESD in Fiji and Japan Improving Problem Solving as a skill of ESD in Science Classrooms in Fiji / VESIKULA Adi Lamawanaivalu, Quantitative research on TPACK status and development strategies of secondary school teachers under the background of "Internet + education" / YIN Yali, The Application of Facilitation in Humanist Teacher Education：Consideration of A Practical Method of Teacher Education / SHI Junqi, Fostering University Students’ Teaching Skills through Learner-centered Instruction -Effective Usage of ICT / KITA Yoko, A study on formulation of early childhood education teachers’ capabilities to arrange the educational environment / SHIOJI Akiko, YUJI Hiroki, TAMURA Takahiro, KINOSHITA Mitsuji, FUJIHARA Nobuhiko, SONE Naoto, SASAKI Akira, Study of career guidance in intellectual disabilities special support schoo: employment support practice in care, etc. / YASUDA Yoshito, Difference in physical fitness and body composition by habits of physical activity in Japanese junior high school students / AKIHARA Yu, ODA Toshiaki, YAMAMOTO Tadashi, SOGABE Akitoshi, An Examination of Primary Education Music Lesson Planning Based on a Workshop Case Study / TOKIE Lisa, The Effect of Drama Education on Communication Skills: In the Case of Japanese High School Students / OGAWA Miyoko, A Study of Teachers’ Professional Development through Lesson Study: A Focus on the Use of One Page Portfolio Assessment (OPPA) / OKUMURA Yoshimi
Published: 2021

28. Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain

Author: Marbach, Felix, Stoyanov, Georgi, Erger, Florian, Stratakis, Constantine A., Settas, Nikolaos, London, Edra, Rosenfeld, Jill A., Torti, Erin, Haldeman-Englert, Chad, Sklirou, Evgenia, Kessler, Elena, Ceulemans, Sophia, Nelson, Stanley F., Martinez-Agosto, Julian A., Palmer, Christina G. S., Signer, Rebecca H., Acosta, Maria T., Adam, Margaret, Adams, David R., Agrawal, Pankaj B., Alejandro, Mercedes E., Alvey, Justin, Amendola, Laura, Andrews, Ashley, Ashley, Euan A., Azamian, Mahshid S., Bacino, Carlos A., Bademci, Guney, Baker, Eva, Balasubramanyam, Ashok, Baldridge, Dustin, Bale, Jim, Bamshad, Michael, Barbouth, Deborah, Bayrak-Toydemir, Pinar, Beck, Anita, Beggs, Alan H., Behrens, Edward, Bejerano, Gill, Bennett, Jimmy, Berg-Rood, Beverly, Bernstein, Jonathan A., Berry, Gerard T., Bican, Anna, Bivona, Stephanie, Blue, Elizabeth, Bohnsack, John, Bonnenmann, Carsten, Bonner, Devon, Botto, Lorenzo, Boyd, Brenna, Briere, Lauren C., Brokamp, Elly, Brown, Gabrielle, Burke, Elizabeth A., Burrage, Lindsay C., Butte, Manish J., Byers, Peter, Byrd, William E., Carey, John, Carrasquillo, Olveen, Chang, Ta Chen Peter, Chanprasert, Sirisak, Chao, Hsiao-Tuan, Clark, Gary D., Coakley, Terra R., Cobban, Laurel A., Cogan, Joy D., Coggins, Matthew, Cole, F. Sessions, Colley, Heather A., Cooper, Cynthia M., Cope, Heidi, Craigen, William J., Crouse, Andrew B., Cunningham, Michael, D'Souza, Precilla, Dai, Hongzheng, Dasari, Surendra, Davis, Joie, Daya, Jyoti G., Deardorff, Matthew, Dell'Angelica, Esteban C., Dhar, Shweta U., Dipple, Katrina, Doherty, Daniel, Dorrani, Naghmeh, Doss, Argenia L., Douine, Emilie D., Draper, David D., Duncan, Laura, Earl, Dawn, Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Esteves, Cecilia, Falk, Marni, Fernandez, Liliana, Ferreira, Carlos, Fieg, Elizabeth L., Findley, Laurie C., Fisher, Paul G., Fogel, Brent L., Forghani, Irman, Fresard, Laure, Gahl, William A., Glass, Ian, Gochuico, Bernadette, Godfrey, Rena A., Golden-Grant, Katie, Goldman, Alica M., Goldrich, Madison P., Goldstein, David B., Grajewski, Alana, Groden, Catherine A., Gutierrez, Irma, Hahn, Sihoun, Hamid, Rizwan, Hanchard, Neil A., Hassey, Kelly, Hayes, Nichole, High, Frances, Hing, Anne, Hisama, Fuki M., Holm, Ingrid A., Hom, Jason, Horike-Pyne, Martha, Huang, Alden, Huang, Yong, Huryn, Laryssa, Isasi, Rosario, Jamal, Fariha, Jarvik, Gail P., Jarvik, Jeffrey, Jayadev, Suman, Karaviti, Lefkothea, Kennedy, Jennifer, Kiley, Dana, Kohane, Isaac S., Kohler, Jennefer N., Korrick, Susan, Kozuira, Mary, Krakow, Deborah, Krasnewich, Donna M., Kravets, Elijah, Krier, Joel B., LaMoure, Grace L., Lalani, Seema R., Lam, Byron, Lam, Christina, Lanpher, Brendan C., Lanza, Ian R., Latham, Lea, LeBlanc, Kimberly, Lee, Brendan H., Lee, Hane, Levitt, Roy, Lewis, Richard A., Lincoln, Sharyn A., Liu, Pengfei, Liu, Xue Zhong, Longo, Nicola, Loo, Sandra K., Loscalzo, Joseph, Maas, Richard L., MacDowall, John, MacRae, Calum A., Macnamara, Ellen F., Maduro, Valerie V., Majcherska, Marta M., Mak, Bryan C., Malicdan, May Christine V., Mamounas, Laura A., Manolio, Teri A., Mao, Rong, Maravilla, Kenneth, Markello, Thomas C., Marom, Ronit, Marth, Gabor, Martin, Beth A., Martin, Martin G., Marwaha, Shruti, McCauley, Jacob, McConkie-Rosell, Allyn, McCormack, Colleen E., McCray, Alexa T., McGee, Elisabeth, Mefford, Heather, Merritt, J. Lawrence, Might, Matthew, Mirzaa, Ghayda, Morava, Eva, Moretti, Paolo M., Moretti, Paolo, Mosbrook-Davis, Deborah, Mulvihill, John J., Murdock, David R., Nagy, Anna, Nakano-Okuno, Mariko, Nath, Avi, Newman, John H., Nicholas, Sarah K., Nickerson, Deborah, Nieves-Rodriguez, Shirley, Novacic, Donna, Oglesbee, Devin, Orengo, James P., Pace, Laura, Pak, Stephen, Pallais, J. Carl, Papp, Jeanette C., Parker, Neil H., Phillips, John A., III, Posey, Jennifer E., Potocki, Lorraine, Power, Bradley, Pusey, Barbara N., Quinlan, Aaron, Raja, Archana N., Rao, Deepak A., Raskind, Wendy, Renteria, Genecee, Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Rosenwasser, Natalie, Rossignol, Francis, Ruzhnikov, Maura, Sacco, Ralph, Sampson, Jacinda B., Samson, Susan L., Saporta, Mario, Schaechter, Judy, Schedl, Timothy, Schoch, Kelly, Scott, C. Ron, Scott, Daryl A., Shashi, Vandana, Shin, Jimann, Silverman, Edwin K., Sinsheimer, Janet S., Sisco, Kathy, Smith, Edward C., Smith, Kevin S., Solem, Emily, Solnica-Krezel, Lilianna, Spillmann, Rebecca C., Stoler, Joan M., Sullivan, Jennifer A., Sullivan, Kathleen, Sun, Angela, Sutton, Shirley, Sweetser, David A., Sybert, Virginia, Tabor, Holly K., Tan, Amelia L. M., Tan, Queenie K. -G., Tekin, Mustafa, Telischi, Fred, Thorson, Willa, Thurm, Audrey, Tifft, Cynthia J., Toro, Camilo, Tran, Alyssa A., Tucker, Brianna M., Urv, Tiina K., Vanderver, Adeline, Velinder, Matt, Viskochil, Dave, Vogel, Tiphanie P., Wahl, Colleen E., Walker, Melissa, Wallace, Stephanie, Walley, Nicole M., Walsh, Chris A., Wambach, Jennifer, Wan, Jijun, Wang, Lee-kai, Wangler, Michael F., Ward, Patricia A., Wegner, Daniel, Wener, Mark, Wenger, Tara, Perry, Katherine Wesseling, Westerfield, Monte, Wheeler, Matthew T., Whitlock, Jordan, Wolfe, Lynne A., Woods, Jeremy D., Yamamoto, Shinya, Yang, John, Yousef, Muhammad, Zastrow, Diane B., Zein, Wadih, Zhao, Chunli, Zuchner, Stephan, Andrews, Marisa V., Grange, Dorothy K., Willaert, Rebecca, Person, Richard, Telegrafi, Aida, Sievers, Aaron, Laugsch, Magdalena, Theiss, Susanne, Cheng, YuZhu, Lichtarge, Olivier, Katsonis, Panagiotis, Stocco, Amber, Schaaf, Christian P., Marbach, Felix, Stoyanov, Georgi, Erger, Florian, Stratakis, Constantine A., Settas, Nikolaos, London, Edra, Rosenfeld, Jill A., Torti, Erin, Haldeman-Englert, Chad, Sklirou, Evgenia, Kessler, Elena, Ceulemans, Sophia, Nelson, Stanley F., Martinez-Agosto, Julian A., Palmer, Christina G. S., Signer, Rebecca H., Acosta, Maria T., Adam, Margaret, Adams, David R., Agrawal, Pankaj B., Alejandro, Mercedes E., Alvey, Justin, Amendola, Laura, Andrews, Ashley, Ashley, Euan A., Azamian, Mahshid S., Bacino, Carlos A., Bademci, Guney, Baker, Eva, Balasubramanyam, Ashok, Baldridge, Dustin, Bale, Jim, Bamshad, Michael, Barbouth, Deborah, Bayrak-Toydemir, Pinar, Beck, Anita, Beggs, Alan H., Behrens, Edward, Bejerano, Gill, Bennett, Jimmy, Berg-Rood, Beverly, Bernstein, Jonathan A., Berry, Gerard T., Bican, Anna, Bivona, Stephanie, Blue, Elizabeth, Bohnsack, John, Bonnenmann, Carsten, Bonner, Devon, Botto, Lorenzo, Boyd, Brenna, Briere, Lauren C., Brokamp, Elly, Brown, Gabrielle, Burke, Elizabeth A., Burrage, Lindsay C., Butte, Manish J., Byers, Peter, Byrd, William E., Carey, John, Carrasquillo, Olveen, Chang, Ta Chen Peter, Chanprasert, Sirisak, Chao, Hsiao-Tuan, Clark, Gary D., Coakley, Terra R., Cobban, Laurel A., Cogan, Joy D., Coggins, Matthew, Cole, F. Sessions, Colley, Heather A., Cooper, Cynthia M., Cope, Heidi, Craigen, William J., Crouse, Andrew B., Cunningham, Michael, D'Souza, Precilla, Dai, Hongzheng, Dasari, Surendra, Davis, Joie, Daya, Jyoti G., Deardorff, Matthew, Dell'Angelica, Esteban C., Dhar, Shweta U., Dipple, Katrina, Doherty, Daniel, Dorrani, Naghmeh, Doss, Argenia L., Douine, Emilie D., Draper, David D., Duncan, Laura, Earl, Dawn, Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Esteves, Cecilia, Falk, Marni, Fernandez, Liliana, Ferreira, Carlos, Fieg, Elizabeth L., Findley, Laurie C., Fisher, Paul G., Fogel, Brent L., Forghani, Irman, Fresard, Laure, Gahl, William A., Glass, Ian, Gochuico, Bernadette, Godfrey, Rena A., Golden-Grant, Katie, Goldman, Alica M., Goldrich, Madison P., Goldstein, David B., Grajewski, Alana, Groden, Catherine A., Gutierrez, Irma, Hahn, Sihoun, Hamid, Rizwan, Hanchard, Neil A., Hassey, Kelly, Hayes, Nichole, High, Frances, Hing, Anne, Hisama, Fuki M., Holm, Ingrid A., Hom, Jason, Horike-Pyne, Martha, Huang, Alden, Huang, Yong, Huryn, Laryssa, Isasi, Rosario, Jamal, Fariha, Jarvik, Gail P., Jarvik, Jeffrey, Jayadev, Suman, Karaviti, Lefkothea, Kennedy, Jennifer, Kiley, Dana, Kohane, Isaac S., Kohler, Jennefer N., Korrick, Susan, Kozuira, Mary, Krakow, Deborah, Krasnewich, Donna M., Kravets, Elijah, Krier, Joel B., LaMoure, Grace L., Lalani, Seema R., Lam, Byron, Lam, Christina, Lanpher, Brendan C., Lanza, Ian R., Latham, Lea, LeBlanc, Kimberly, Lee, Brendan H., Lee, Hane, Levitt, Roy, Lewis, Richard A., Lincoln, Sharyn A., Liu, Pengfei, Liu, Xue Zhong, Longo, Nicola, Loo, Sandra K., Loscalzo, Joseph, Maas, Richard L., MacDowall, John, MacRae, Calum A., Macnamara, Ellen F., Maduro, Valerie V., Majcherska, Marta M., Mak, Bryan C., Malicdan, May Christine V., Mamounas, Laura A., Manolio, Teri A., Mao, Rong, Maravilla, Kenneth, Markello, Thomas C., Marom, Ronit, Marth, Gabor, Martin, Beth A., Martin, Martin G., Marwaha, Shruti, McCauley, Jacob, McConkie-Rosell, Allyn, McCormack, Colleen E., McCray, Alexa T., McGee, Elisabeth, Mefford, Heather, Merritt, J. Lawrence, Might, Matthew, Mirzaa, Ghayda, Morava, Eva, Moretti, Paolo M., Moretti, Paolo, Mosbrook-Davis, Deborah, Mulvihill, John J., Murdock, David R., Nagy, Anna, Nakano-Okuno, Mariko, Nath, Avi, Newman, John H., Nicholas, Sarah K., Nickerson, Deborah, Nieves-Rodriguez, Shirley, Novacic, Donna, Oglesbee, Devin, Orengo, James P., Pace, Laura, Pak, Stephen, Pallais, J. Carl, Papp, Jeanette C., Parker, Neil H., Phillips, John A., III, Posey, Jennifer E., Potocki, Lorraine, Power, Bradley, Pusey, Barbara N., Quinlan, Aaron, Raja, Archana N., Rao, Deepak A., Raskind, Wendy, Renteria, Genecee, Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Rosenwasser, Natalie, Rossignol, Francis, Ruzhnikov, Maura, Sacco, Ralph, Sampson, Jacinda B., Samson, Susan L., Saporta, Mario, Schaechter, Judy, Schedl, Timothy, Schoch, Kelly, Scott, C. Ron, Scott, Daryl A., Shashi, Vandana, Shin, Jimann, Silverman, Edwin K., Sinsheimer, Janet S., Sisco, Kathy, Smith, Edward C., Smith, Kevin S., Solem, Emily, Solnica-Krezel, Lilianna, Spillmann, Rebecca C., Stoler, Joan M., Sullivan, Jennifer A., Sullivan, Kathleen, Sun, Angela, Sutton, Shirley, Sweetser, David A., Sybert, Virginia, Tabor, Holly K., Tan, Amelia L. M., Tan, Queenie K. -G., Tekin, Mustafa, Telischi, Fred, Thorson, Willa, Thurm, Audrey, Tifft, Cynthia J., Toro, Camilo, Tran, Alyssa A., Tucker, Brianna M., Urv, Tiina K., Vanderver, Adeline, Velinder, Matt, Viskochil, Dave, Vogel, Tiphanie P., Wahl, Colleen E., Walker, Melissa, Wallace, Stephanie, Walley, Nicole M., Walsh, Chris A., Wambach, Jennifer, Wan, Jijun, Wang, Lee-kai, Wangler, Michael F., Ward, Patricia A., Wegner, Daniel, Wener, Mark, Wenger, Tara, Perry, Katherine Wesseling, Westerfield, Monte, Wheeler, Matthew T., Whitlock, Jordan, Wolfe, Lynne A., Woods, Jeremy D., Yamamoto, Shinya, Yang, John, Yousef, Muhammad, Zastrow, Diane B., Zein, Wadih, Zhao, Chunli, Zuchner, Stephan, Andrews, Marisa V., Grange, Dorothy K., Willaert, Rebecca, Person, Richard, Telegrafi, Aida, Sievers, Aaron, Laugsch, Magdalena, Theiss, Susanne, Cheng, YuZhu, Lichtarge, Olivier, Katsonis, Panagiotis, Stocco, Amber, and Schaaf, Christian P.
Abstract: Purpose We characterize the clinical and molecular phenotypes of six unrelated individuals with intellectual disability and autism spectrum disorder who carry heterozygous missense variants of the PRKAR1B gene, which encodes the R1 beta subunit of the cyclic AMP-dependent protein kinase A (PKA). Methods Variants of PRKAR1B were identified by single- or trio-exome analysis. We contacted the families and physicians of the six individuals to collect phenotypic information, performed in vitro analyses of the identified PRKAR1B-variants, and investigated PRKAR1B expression during embryonic development. Results Recent studies of large patient cohorts with neurodevelopmental disorders found significant enrichment of de novo missense variants in PRKAR1B. In our cohort, de novo origin of the PRKAR1B variants could be confirmed in five of six individuals, and four carried the same heterozygous de novo variant c.1003C>T (p.Arg335Trp; NM_001164760). Global developmental delay, autism spectrum disorder, and apraxia/dyspraxia have been reported in all six, and reduced pain sensitivity was found in three individuals carrying the c.1003C>T variant. PRKAR1B expression in the brain was demonstrated during human embryonal development. Additionally, in vitro analyses revealed altered basal PKA activity in cells transfected with variant-harboring PRKAR1B expression constructs. Conclusion Our study provides strong evidence for a PRKAR1B-related neurodevelopmental disorder.
Published: 2021

29. <Note>Nkala Forest: Introduction of a forest-savanna mosaic field site of wild bonobos and its future prospects

Author: 40585767, Onishi, Ena, Brooks, James, Leti, Innocent, Monghiemo, Claude, Bokika, Jean-Christophe, Shintaku, Yuta, Idani, Gen'ichi, Yamamoto, Shinya, 40585767, Onishi, Ena, Brooks, James, Leti, Innocent, Monghiemo, Claude, Bokika, Jean-Christophe, Shintaku, Yuta, Idani, Gen'ichi, and Yamamoto, Shinya
Published: 2020

30. Lateral position preference in grazing feral horses

Author: 40585767, 80396225, Inoue, Sota, Yamamoto, Shinya, Ringhofer, Monamie, Mendonça, Renata S., Hirata, Satoshi, 40585767, 80396225, Inoue, Sota, Yamamoto, Shinya, Ringhofer, Monamie, Mendonça, Renata S., and Hirata, Satoshi
Abstract: Behavioural lateralisation is an effective way for animals to manage daily tasks by specialising behaviour to either side of the body. Many types of lateralisation are linked to the function of each brain hemisphere. Lateralisation of monitoring behaviour in mother–infant relationships occurs in a wide range of mammals, where infants frequently use their left eye to monitor their mother. However, few studies have focused on this type of spatial relationships among adults in daily life, such as during foraging. The present study focused on monitoring adult feral horse behaviour using quantitative analysis of spatial relationships, using drone technology. We found that horses form a localised spatial relationship with their nearest neighbour. Specifically, the nearest neighbour was located to the left rear of a target individual significantly more frequently than to the right rear. Furthermore, the nearest neighbour was less frequently located behind a target individual. We propose that this relationship is caused by a left‐eye preference, because information via the left eye predominantly proceeds to the right hemisphere, which is dominant for social processing.
Published: 2020

31. Myofibroblasts acquire retinoic acid–producing ability during fibroblast-to-myofibroblast transition following kidney injury

Author: 90837105, 50301106, 00982448, 70378769, Nakamura, Jin, Sato, Yuki, Kitai, Yuichiro, Wajima, Shuichi, Yamamoto, Shinya, Oguchi, Akiko, Yamada, Ryo, Kaneko, Keiichi, Kondo, Makiko, Uchino, Eiichiro, Tsuchida, Junichi, Hirano, Keita, Sharma, Kumar, Kohno, Kenji, Yanagita, Motoko, 90837105, 50301106, 00982448, 70378769, Nakamura, Jin, Sato, Yuki, Kitai, Yuichiro, Wajima, Shuichi, Yamamoto, Shinya, Oguchi, Akiko, Yamada, Ryo, Kaneko, Keiichi, Kondo, Makiko, Uchino, Eiichiro, Tsuchida, Junichi, Hirano, Keita, Sharma, Kumar, Kohno, Kenji, and Yanagita, Motoko
Published: 2019

32. Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts

Author: Fresard, Laure, Smail, Craig, Ferraro, Nicole M., Teran, Nicole A., Li, Xin, Smith, Kevin S., Bonner, Devon, Kernohan, Kristin D., Marwaha, Shruti, Zappala, Zachary, Balliu, Brunilda, Davis, Joe R., Liu, Boxiang, Prybol, Cameron J., Kohler, Jennefer N., Zastrow, Diane B., Reuter, Chloe M., Fisk, Dianna G., Grove, Megan E., Davidson, Jean M., Hartley, Taila, Joshi, Ruchi, Strober, Benjamin J., Utiramerur, Sowmithri, Lind, Lars, Ingelsson, Erik, Battle, Alexis, Bejerano, Gill, Bernstein, Jonathan A., Ashley, Euan A., Boycott, Kym M., Merker, Jason D., Wheeler, Matthew T., Montgomery, Stephen B., Adams, David R., Aday, Aaron, Alejandro, Mercedes E., Allard, Patrick, Azamian, Mahshid S., Bacino, Carlos A., Baker, Eva, Balasubramanyam, Ashok, Barseghyan, Hayk, Batzli, Gabriel F., Beggs, Alan H., Behnam, Babak, Bellen, Hugo J., Berry, Gerard T., Bican, Anna, Bick, David P., Birch, Camille L., Boone, Braden E., Bostwick, Bret L., Briere, Lauren C., Brokamp, Elly, Brown, Donna M., Brush, Matthew, Burke, Elizabeth A., Burrage, Lindsay C., Butte, Manish J., Chen, Shan, Clark, Gary D., Coakley, Terra R., Cogan, Joy D., Colley, Heather A., Cooper, Cynthia M., Cope, Heidi, Craigen, William J., D'Souza, Precilla, Davids, Mariska, Dayal, Jyoti G., Dell'Angelica, Esteban C., Dhar, Shweta U., Dipple, Katrina M., Donnell-Fink, Laurel A., Dorrani, Naghmeh, Dorset, Daniel C., Douine, Emilie D., Draper, David D., Dries, Annika M., Duncan, Laura, Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Enns, Gregory M., Eskin, Ascia, Esteves, Cecilia, Estwick, Tyra, Fernandez, Liliana, Ferreira, Carlos, Fieg, Elizabeth L., Fisher, Paul G., Fogel, Brent L., Friedman, Noah D., Gahl, William A., Glanton, Emily, Godfrey, Rena A., Goldman, Alica M., Goldstein, David B., Gould, Sarah E., Gourdine, Jean-Philippe F., Groden, Catherine A., Gropman, Andrea L., Haendel, Melissa, Hamid, Rizwan, Hanchard, Neil A., High, Frances, Holm, Ingrid A., Hom, Jason, Howerton, Ellen M., Huang, Yong, Jamal, Fariha, Jiang, Yong-hui, Johnston, Jean M., Jones, Angela L., Karaviti, Lefkothea, Koeller, David M., Kohane, Isaac S., Krasnewich, Donna M., Korrick, Susan, Koziura, Mary, Krier, Joel B., Kyle, Jennifer E., Lalani, Seema R., Lau, C. Christopher, Lazar, Jozef, LeBlanc, Kimberly, Lee, Brendan H., Lee, Hane, Levy, Shawn E., Lewis, Richard A., Lincoln, Sharyn A., Loo, Sandra K., Loscalzo, Joseph, Maas, Richard L., Macnamara, Ellen F., MacRae, Calum A., Maduro, Valerie V., Majcherska, Marta M., Malicdan, May Christine V., Mamounas, Laura A., Manolio, Teri A., Markello, Thomas C., Marom, Ronit, Martin, G. Martin, Martinez-Agosto, Julian A., May, Thomas, McConkie-Rosell, Allyn, McCormack, Colleen E., McCray, Alexa T., Metz, Thomas O., Might, Matthew, Moretti, Paolo M., Morimoto, Marie, Mulvihill, John J., Murdock, David R., Murphy, Jennifer L., Muzny, Donna M., Nehrebecky, Michele E., Nelson, Stan F., Newberry, J. Scott, Newman, John H., Nicholas, Sarah K., Novacic, Donna, Orange, Jordan S., Orengo, James P., Pallais, J. Carl, Palmer, Christina G. S., Papp, Jeanette C., Parker, Neil H., Pena, Loren D. M., Phillips, John A., III, Posey, Jennifer E., Postlethwait, John H., Potocki, Lorraine, Pusey, Barbara N., Renteria, Genecee, Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Rosenfeld, Jill A., Sampson, Jacinda B., Samson, Susan L., Schoch, Kelly, Scott, Daryl A., Shakachite, Lisa, Sharma, Prashant, Shashi, Vandana, Signer, Rebecca, Silverman, Edwin K., Sinsheimer, Janet S., Spillmann, Rebecca C., Stoler, Joan M., Stong, Nicholas, Sullivan, Jennifer A., Sweetser, David A., Tan, Queenie K. -G., Tifft, Cynthia J., Toro, Camilo, Tran, Alyssa A., Urv, Tiina K., Vilain, Eric, Vogel, Tiphanie P., Waggott, Daryl M., Wahl, Colleen E., Walley, Nicole M., Walsh, Chris A., Walker, Melissa, Wan, Jijun, Wangler, Michael F., Ward, Patricia A., Waters, Katrina M., Webb-Robertson, Bobbie-Jo M., Westerfield, Monte, Wise, Anastasia L., Wolfe, Lynne A., Worthey, Elizabeth A., Yamamoto, Shinya, Yang, John, Yang, Yaping, Yoon, Amanda J., Yu, Guoyun, Zhao, Chunli, Zheng, Allison, Boycott, Kym, MacKenzie, Alex, Majewski, Jacek, Brudno, Michael, Bulman, Dennis, Dyment, David, Fresard, Laure, Smail, Craig, Ferraro, Nicole M., Teran, Nicole A., Li, Xin, Smith, Kevin S., Bonner, Devon, Kernohan, Kristin D., Marwaha, Shruti, Zappala, Zachary, Balliu, Brunilda, Davis, Joe R., Liu, Boxiang, Prybol, Cameron J., Kohler, Jennefer N., Zastrow, Diane B., Reuter, Chloe M., Fisk, Dianna G., Grove, Megan E., Davidson, Jean M., Hartley, Taila, Joshi, Ruchi, Strober, Benjamin J., Utiramerur, Sowmithri, Lind, Lars, Ingelsson, Erik, Battle, Alexis, Bejerano, Gill, Bernstein, Jonathan A., Ashley, Euan A., Boycott, Kym M., Merker, Jason D., Wheeler, Matthew T., Montgomery, Stephen B., Adams, David R., Aday, Aaron, Alejandro, Mercedes E., Allard, Patrick, Azamian, Mahshid S., Bacino, Carlos A., Baker, Eva, Balasubramanyam, Ashok, Barseghyan, Hayk, Batzli, Gabriel F., Beggs, Alan H., Behnam, Babak, Bellen, Hugo J., Berry, Gerard T., Bican, Anna, Bick, David P., Birch, Camille L., Boone, Braden E., Bostwick, Bret L., Briere, Lauren C., Brokamp, Elly, Brown, Donna M., Brush, Matthew, Burke, Elizabeth A., Burrage, Lindsay C., Butte, Manish J., Chen, Shan, Clark, Gary D., Coakley, Terra R., Cogan, Joy D., Colley, Heather A., Cooper, Cynthia M., Cope, Heidi, Craigen, William J., D'Souza, Precilla, Davids, Mariska, Dayal, Jyoti G., Dell'Angelica, Esteban C., Dhar, Shweta U., Dipple, Katrina M., Donnell-Fink, Laurel A., Dorrani, Naghmeh, Dorset, Daniel C., Douine, Emilie D., Draper, David D., Dries, Annika M., Duncan, Laura, Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Enns, Gregory M., Eskin, Ascia, Esteves, Cecilia, Estwick, Tyra, Fernandez, Liliana, Ferreira, Carlos, Fieg, Elizabeth L., Fisher, Paul G., Fogel, Brent L., Friedman, Noah D., Gahl, William A., Glanton, Emily, Godfrey, Rena A., Goldman, Alica M., Goldstein, David B., Gould, Sarah E., Gourdine, Jean-Philippe F., Groden, Catherine A., Gropman, Andrea L., Haendel, Melissa, Hamid, Rizwan, Hanchard, Neil A., High, Frances, Holm, Ingrid A., Hom, Jason, Howerton, Ellen M., Huang, Yong, Jamal, Fariha, Jiang, Yong-hui, Johnston, Jean M., Jones, Angela L., Karaviti, Lefkothea, Koeller, David M., Kohane, Isaac S., Krasnewich, Donna M., Korrick, Susan, Koziura, Mary, Krier, Joel B., Kyle, Jennifer E., Lalani, Seema R., Lau, C. Christopher, Lazar, Jozef, LeBlanc, Kimberly, Lee, Brendan H., Lee, Hane, Levy, Shawn E., Lewis, Richard A., Lincoln, Sharyn A., Loo, Sandra K., Loscalzo, Joseph, Maas, Richard L., Macnamara, Ellen F., MacRae, Calum A., Maduro, Valerie V., Majcherska, Marta M., Malicdan, May Christine V., Mamounas, Laura A., Manolio, Teri A., Markello, Thomas C., Marom, Ronit, Martin, G. Martin, Martinez-Agosto, Julian A., May, Thomas, McConkie-Rosell, Allyn, McCormack, Colleen E., McCray, Alexa T., Metz, Thomas O., Might, Matthew, Moretti, Paolo M., Morimoto, Marie, Mulvihill, John J., Murdock, David R., Murphy, Jennifer L., Muzny, Donna M., Nehrebecky, Michele E., Nelson, Stan F., Newberry, J. Scott, Newman, John H., Nicholas, Sarah K., Novacic, Donna, Orange, Jordan S., Orengo, James P., Pallais, J. Carl, Palmer, Christina G. S., Papp, Jeanette C., Parker, Neil H., Pena, Loren D. M., Phillips, John A., III, Posey, Jennifer E., Postlethwait, John H., Potocki, Lorraine, Pusey, Barbara N., Renteria, Genecee, Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Rosenfeld, Jill A., Sampson, Jacinda B., Samson, Susan L., Schoch, Kelly, Scott, Daryl A., Shakachite, Lisa, Sharma, Prashant, Shashi, Vandana, Signer, Rebecca, Silverman, Edwin K., Sinsheimer, Janet S., Spillmann, Rebecca C., Stoler, Joan M., Stong, Nicholas, Sullivan, Jennifer A., Sweetser, David A., Tan, Queenie K. -G., Tifft, Cynthia J., Toro, Camilo, Tran, Alyssa A., Urv, Tiina K., Vilain, Eric, Vogel, Tiphanie P., Waggott, Daryl M., Wahl, Colleen E., Walley, Nicole M., Walsh, Chris A., Walker, Melissa, Wan, Jijun, Wangler, Michael F., Ward, Patricia A., Waters, Katrina M., Webb-Robertson, Bobbie-Jo M., Westerfield, Monte, Wise, Anastasia L., Wolfe, Lynne A., Worthey, Elizabeth A., Yamamoto, Shinya, Yang, John, Yang, Yaping, Yoon, Amanda J., Yu, Guoyun, Zhao, Chunli, Zheng, Allison, Boycott, Kym, MacKenzie, Alex, Majewski, Jacek, Brudno, Michael, Bulman, Dennis, and Dyment, David
Abstract: It is estimated that 350 million individuals worldwide suffer from rare diseases, which are predominantly caused by mutation in a single gene(1). The current molecular diagnostic rate is estimated at 50%, with whole-exome sequencing (WES) among the most successful approaches(2-5). For patients in whom WES is uninformative, RNA sequencing (RNA-seq) has shown diagnostic utility in specific tissues and diseases(6-8). This includes muscle biopsies from patients with undiagnosed rare muscle disorders(6,9), and cultured fibroblasts from patients with mitochondrial disorders(7). However, for many individuals, biopsies are not performed for clinical care, and tissues are difficult to access. We sought to assess the utility of RNA-seq from blood as a diagnostic tool for rare diseases of different pathophysiologies. We generated whole-blood RNA-seq from 94 individuals with undiagnosed rare diseases spanning 16 diverse disease categories. We developed a robust approach to compare data from these individuals with large sets of RNA-seq data for controls (n = 1,594 unrelated controls and n = 49 family members) and demonstrated the impacts of expression, splicing, gene and variant filtering strategies on disease gene identification. Across our cohort, we observed that RNA-seq yields a 7.5% diagnostic rate, and an additional 16.7% with improved candidate gene resolution., Group Authors: Undiagnosed Dis Network ; Care4Rare Canada Consortium
Published: 2019
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33. Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region

Author: Kelly, McKenna, Park, Meredith, Mihalek, Ivana, Rochtus, Anne, Gramm, Marie, Perez-Palma, Eduardo, Axeen, Erika Takle, Hung, Christina Y., Olson, Heather, Swanson, Lindsay, Anselm, Irina, Briere, Lauren C., High, Frances A., Sweetser, David A., Kayani, Saima, Snyder, Molly, Calvert, Sophie, Scheffer, Ingrid E., Yang, Edward, Waugh, Jeff L., Lal, Dennis, Bodamer, Olaf, Poduri, Annapurna, Adams, David R., Aday, Aaron, Alejandro, Mercedes E., Allard, Patrick, Ashley, Euan A., Azamian, Mahshid S., Bacino, Carlos A., Baker, Eva, Balasubramanyam, Ashok, Barseghyan, Hayk, Batzli, Gabriel F., Beggs, Alan H., Behnam, Babak, Bellen, Hugo J., Bernstein, Jonathan A., Bican, Anna, Bick, David P., Birch, Camille L., Bonner, Devon, Boone, Braden E., Bostwick, Bret L., Brokamp, Elly, Brown, Donna M., Brush, Matthew, Burke, Elizabeth A., Burrage, Lindsay C., Butte, Manish J., Chen, Shan, Clark, Gary D., Coakley, Terra R., Cogan, Joy D., Colley, Heather A., Cooper, Cynthia M., Cope, Heidi, Craigen, William J., D'Souza, Precilla, Davids, Mariska, Davidson, Jean M., Dayal, Jyoti G., Dell'Angelica, Esteban C., Dhar, Shweta U., Dipple, Katrina M., Donnell-Fink, Laurel A., Dorrani, Naghmeh, Dorset, Daniel C., Douine, Emilie D., Draper, David D., Dries, Annika M., Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Enns, Gre-Gory M., Eskin, Ascia, Esteves, Cecilia, Estwick, Tyra, Fairbrother, Laura, Fernandez, Liliana, Ferreira, Carlos, Fieg, Elizabeth L., Fisher, Paul G., Fogel, Brent L., Friedman, Noah D., Gahl, William A., Glanton, Emily, Godfrey, Rena A., Goldman, Alica M., Goldstein, David B., Gould, Sarah E., Gourdine, Jean-Philippe F., Groden, Catherine A., Gropman, Andrea L., Haendel, Melissa, Hamid, Rizwan, Hanchard, Neil A., High, Francis, Holm, Ingrid A., Horn, Jason, Howerton, Ellen M., Huang, Yong, Jamal, Fariha, Jiang, Yong-hui, Johnston, Jean M., Jones, Angela L., Karaviti, Lefkothea, Koeller, David M., Kohane, Isaac S., Kohler, Jennefer N., Konick, Susan, Koziura, Mary, Krasnewich, Donna M., Krier, Joel B., Kyle, Jennifer E., Lalani, Seema R., Lau, C. Christopher, Lazar, Jozef, LeBlanc, Kimberly, Lee, Brendan H., Lee, Hane, Levy, Shawn E., Lewis, Richard A., Lincoln, Sharyn A., Loo, Sandra K., Loscalzo, Joseph, Maas, Richard L., Macnamara, Ellen F., MacRae, Calum A., Maduro, Valerie V., Majch-erska, Marta M., Malicdan, May Christine, V, Mamounas, Laura A., Manolio, Teri A., Markello, Thomas C., Marom, Ronit, Martin, Martin G., Martinez-Agosto, Julian A., Mar-waha, Shruti, May, Thomas, McConkie-Rosell, Allyn, McCormack, Colleen E., McCray, Alexa F., Merker, Jason D., Metz, Thomas O., Might, Matthew, Moretti, Paolo M., Morimoto, Marie, Mulvihill, John J., Murdock, David R., Murphy, Jennifer L., Muzny, Donna M., Nehrebecky, Michele E., Nelson, Stan F., Newberry, J. Scott, Newman, John H., Nicholas, Sarah K., Novacic, Donna, Orange, Jordan S., Orengo, James P., Pallais, J. Carl, Palmer, Christina G. S., Papp, Jeanette C., Parker, Neil H., Pena, Loren D. M., Phillips, John A., III, Posey, Jennifer E., Postlethwait, John H., Potocki, Lorraine, Pusey, Barbara N., Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Rosenfeld, Jill A., Sampson, Jacinda B., Samson, Susan L., Schoch, Kelly, Scott, Daryl A., Shakachite, Lisa, Sharma, Prashant, Shashi, Vandana, Signer, Rebecca, Silverman, Edwin K., Sinsheimer, Janet S., Smith, Kevin S., Spillmann, Rebecca C., Stoler, Joan M., Stong, Nicholas, Sullivan, Jennifer A., Tan, Queenie K-G, Tifft, Cynthia J., Toro, Camilo, Tran, Alyssa A., Urv, Tiina K., Vilain, Eric, Vogel, Tiphanie P., Waggott, Daryl M., Wahl, Colleen E., Walker, Melissa, Walley, Nicole M., Walsh, Chris A., Wan, Jijun, Wangler, Michael F., Ward, Patricia A., Waters, Katrina M., Webb-Robertson, Bobbie-Jo M., Westerfield, Monte, Wheeler, Matthew T., Wise, Anastasia L., Wolfe, Lynne A., Worthey, Elizabeth A., Yamamoto, Shinya, Yang, Yaping, Yoon, Amanda J., Yu, Guoyun, Zastrow, Diane B., Zhao, Chunli, Zheng, Allison, Kelly, McKenna, Park, Meredith, Mihalek, Ivana, Rochtus, Anne, Gramm, Marie, Perez-Palma, Eduardo, Axeen, Erika Takle, Hung, Christina Y., Olson, Heather, Swanson, Lindsay, Anselm, Irina, Briere, Lauren C., High, Frances A., Sweetser, David A., Kayani, Saima, Snyder, Molly, Calvert, Sophie, Scheffer, Ingrid E., Yang, Edward, Waugh, Jeff L., Lal, Dennis, Bodamer, Olaf, Poduri, Annapurna, Adams, David R., Aday, Aaron, Alejandro, Mercedes E., Allard, Patrick, Ashley, Euan A., Azamian, Mahshid S., Bacino, Carlos A., Baker, Eva, Balasubramanyam, Ashok, Barseghyan, Hayk, Batzli, Gabriel F., Beggs, Alan H., Behnam, Babak, Bellen, Hugo J., Bernstein, Jonathan A., Bican, Anna, Bick, David P., Birch, Camille L., Bonner, Devon, Boone, Braden E., Bostwick, Bret L., Brokamp, Elly, Brown, Donna M., Brush, Matthew, Burke, Elizabeth A., Burrage, Lindsay C., Butte, Manish J., Chen, Shan, Clark, Gary D., Coakley, Terra R., Cogan, Joy D., Colley, Heather A., Cooper, Cynthia M., Cope, Heidi, Craigen, William J., D'Souza, Precilla, Davids, Mariska, Davidson, Jean M., Dayal, Jyoti G., Dell'Angelica, Esteban C., Dhar, Shweta U., Dipple, Katrina M., Donnell-Fink, Laurel A., Dorrani, Naghmeh, Dorset, Daniel C., Douine, Emilie D., Draper, David D., Dries, Annika M., Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Enns, Gre-Gory M., Eskin, Ascia, Esteves, Cecilia, Estwick, Tyra, Fairbrother, Laura, Fernandez, Liliana, Ferreira, Carlos, Fieg, Elizabeth L., Fisher, Paul G., Fogel, Brent L., Friedman, Noah D., Gahl, William A., Glanton, Emily, Godfrey, Rena A., Goldman, Alica M., Goldstein, David B., Gould, Sarah E., Gourdine, Jean-Philippe F., Groden, Catherine A., Gropman, Andrea L., Haendel, Melissa, Hamid, Rizwan, Hanchard, Neil A., High, Francis, Holm, Ingrid A., Horn, Jason, Howerton, Ellen M., Huang, Yong, Jamal, Fariha, Jiang, Yong-hui, Johnston, Jean M., Jones, Angela L., Karaviti, Lefkothea, Koeller, David M., Kohane, Isaac S., Kohler, Jennefer N., Konick, Susan, Koziura, Mary, Krasnewich, Donna M., Krier, Joel B., Kyle, Jennifer E., Lalani, Seema R., Lau, C. Christopher, Lazar, Jozef, LeBlanc, Kimberly, Lee, Brendan H., Lee, Hane, Levy, Shawn E., Lewis, Richard A., Lincoln, Sharyn A., Loo, Sandra K., Loscalzo, Joseph, Maas, Richard L., Macnamara, Ellen F., MacRae, Calum A., Maduro, Valerie V., Majch-erska, Marta M., Malicdan, May Christine, V, Mamounas, Laura A., Manolio, Teri A., Markello, Thomas C., Marom, Ronit, Martin, Martin G., Martinez-Agosto, Julian A., Mar-waha, Shruti, May, Thomas, McConkie-Rosell, Allyn, McCormack, Colleen E., McCray, Alexa F., Merker, Jason D., Metz, Thomas O., Might, Matthew, Moretti, Paolo M., Morimoto, Marie, Mulvihill, John J., Murdock, David R., Murphy, Jennifer L., Muzny, Donna M., Nehrebecky, Michele E., Nelson, Stan F., Newberry, J. Scott, Newman, John H., Nicholas, Sarah K., Novacic, Donna, Orange, Jordan S., Orengo, James P., Pallais, J. Carl, Palmer, Christina G. S., Papp, Jeanette C., Parker, Neil H., Pena, Loren D. M., Phillips, John A., III, Posey, Jennifer E., Postlethwait, John H., Potocki, Lorraine, Pusey, Barbara N., Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Rosenfeld, Jill A., Sampson, Jacinda B., Samson, Susan L., Schoch, Kelly, Scott, Daryl A., Shakachite, Lisa, Sharma, Prashant, Shashi, Vandana, Signer, Rebecca, Silverman, Edwin K., Sinsheimer, Janet S., Smith, Kevin S., Spillmann, Rebecca C., Stoler, Joan M., Stong, Nicholas, Sullivan, Jennifer A., Tan, Queenie K-G, Tifft, Cynthia J., Toro, Camilo, Tran, Alyssa A., Urv, Tiina K., Vilain, Eric, Vogel, Tiphanie P., Waggott, Daryl M., Wahl, Colleen E., Walker, Melissa, Walley, Nicole M., Walsh, Chris A., Wan, Jijun, Wangler, Michael F., Ward, Patricia A., Waters, Katrina M., Webb-Robertson, Bobbie-Jo M., Westerfield, Monte, Wheeler, Matthew T., Wise, Anastasia L., Wolfe, Lynne A., Worthey, Elizabeth A., Yamamoto, Shinya, Yang, Yaping, Yoon, Amanda J., Yu, Guoyun, Zastrow, Diane B., Zhao, Chunli, and Zheng, Allison
Abstract: Objective To characterize the phenotypic spectrum associated with GNAO1 variants and establish genotype-protein structure-phenotype relationships. Methods We evaluated the phenotypes of 14 patients with GNAO1 variants, analyzed their variants for potential pathogenicity, and mapped them, along with those in the literature, on a three-dimensional structural protein model. Results The 14 patients in our cohort, including one sibling pair, had 13 distinct, heterozygous GNAO1 variants classified as pathogenic or likely pathogenic. We attributed the same variant in two siblings to parental mosaicism. Patients initially presented with seizures beginning in the first 3 months of life (8/14), developmental delay (4/14), hypotonia (1/14), or movement disorder (1/14). All patients had hypotonia and developmental delay ranging from mild to severe. Nine had epilepsy, and nine had movement disorders, including dystonia, ataxia, chorea, and dyskinesia. The 13 GNAO1 variants in our patients are predicted to result in amino acid substitutions or deletions in the GNAO1 guanosine triphosphate (GTP)-binding region, analogous to those in previous publications. Patients with variants affecting amino acids 207-221 had only movement disorder and hypotonia. Patients with variants affecting the C-terminal region had the mildest phenotypes.
Published: 2019

34. Mesoscopic Architectures Made of Electrically Charged Binary Colloidal Nanosheets in Aqueous System

Author: Nakato, Teruyuki, Takahashi, Atsushi, Terada, Shinya, Yamaguchi, Shogo, Mouri, Emiko, Shintate, Morio, Yamamoto, Shinya, Yamauchi, Yusuke, Miyamoto, Nobuyoshi, Nakato, Teruyuki, Takahashi, Atsushi, Terada, Shinya, Yamaguchi, Shogo, Mouri, Emiko, Shintate, Morio, Yamamoto, Shinya, Yamauchi, Yusuke, and Miyamoto, Nobuyoshi
Abstract: Inorganic layered materials can be converted to colloidal liquid crystals through exfoliation into inorganic nanosheets, and binary nanosheet colloids exhibit rich phase behavior characterized by multiphase coexistence. In particular, niobate–clay binary nanosheet colloids are characterized by phase separation at a mesoscopic (∼several tens of micrometers) scale whereas they are apparently homogeneous at a macroscopic scale. Although the mesoscopic structure of the niobate–clay binary colloid is advantageous to realize unusual photochemical functions, the structure itself has not been clearly demonstrated in real space. The present study investigated the structure of niobate–clay binary nanosheet colloids in detail. Four clay nanosheets (hectorite, saponite, fluorohectorite, and tetrasilisic mica) with different lateral sizes were compared. Small-angle X-ray scattering (SAXS) indicated lamellar ordering of niobate nanosheets in the binary colloid. The basal spacing of the lamellar phase was reduced by increasing the concentration of clay nanosheets, indicating the compression of the liquid crystalline niobate phase by the isotropic clay phase. Scattering and fluorescence microscope observations using confocal laser scanning microscopy (CLSM) demonstrated the phase separation of niobate and clay nanosheets in real space. Niobate nanosheets assembled into domains of several tens of micrometers whereas clay nanosheets were located in voids between the niobate domains. The results clearly confirmed the spatial separation of two nanosheets and the phase separation at a mesoscopic scale. Distribution of clay nanosheets is dependent on the employed clay nanosheets; the nanosheets with large lateral length are more localized or assembled. This is in harmony with larger basal spacings of niobate lamellar phase for large clay particles. Although three-dimensional compression of the niobate phase by the coexisting clay phase was observed at low clay concentrations, the basal s
Published: 2019

35. Water-mediated deracemization of a bisporphyrin helicate assisted by diastereoselective encapsulation of chiral guests

Author: Ousaka, Naoki, Yamamoto, Shinya, Iida, Hiroki, Iwata, Takuya, Ito, Shingo, Hijikata, Yuh, Irle, Stephan, Yashima, Eiji, Ousaka, Naoki, Yamamoto, Shinya, Iida, Hiroki, Iwata, Takuya, Ito, Shingo, Hijikata, Yuh, Irle, Stephan, and Yashima, Eiji
Published: 2019

36. De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.

Author: Kanca, Oguz, Kanca, Oguz, Andrews, Jonathan C, Lee, Pei-Tseng, Patel, Chirag, Braddock, Stephen R, Slavotinek, Anne M, Cohen, Julie S, Gubbels, Cynthia S, Aldinger, Kimberly A, Williams, Judy, Indaram, Maanasa, Fatemi, Ali, Yu, Timothy W, Agrawal, Pankaj B, Vezina, Gilbert, Simons, Cas, Crawford, Joanna, Lau, C Christopher, Undiagnosed Diseases Network, Chung, Wendy K, Markello, Thomas C, Dobyns, William B, Adams, David R, Gahl, William A, Wangler, Michael F, Yamamoto, Shinya, Bellen, Hugo J, Malicdan, May Christine V, Kanca, Oguz, Kanca, Oguz, Andrews, Jonathan C, Lee, Pei-Tseng, Patel, Chirag, Braddock, Stephen R, Slavotinek, Anne M, Cohen, Julie S, Gubbels, Cynthia S, Aldinger, Kimberly A, Williams, Judy, Indaram, Maanasa, Fatemi, Ali, Yu, Timothy W, Agrawal, Pankaj B, Vezina, Gilbert, Simons, Cas, Crawford, Joanna, Lau, C Christopher, Undiagnosed Diseases Network, Chung, Wendy K, Markello, Thomas C, Dobyns, William B, Adams, David R, Gahl, William A, Wangler, Michael F, Yamamoto, Shinya, Bellen, Hugo J, and Malicdan, May Christine V
Abstract: WD40 repeat-containing proteins form a large family of proteins present in all eukaryotes. Here, we identified five pediatric probands with de novo variants in WDR37, which encodes a member of the WD40 repeat protein family. Two probands shared one variant and the others have variants in nearby amino acids outside the WD40 repeats. The probands exhibited shared phenotypes of epilepsy, colobomas, facial dysmorphology reminiscent of CHARGE syndrome, developmental delay and intellectual disability, and cerebellar hypoplasia. The WDR37 protein is highly conserved in vertebrate and invertebrate model organisms and is currently not associated with a human disease. We generated a null allele of the single Drosophila ortholog to gain functional insights and replaced the coding region of the fly gene CG12333/wdr37 with GAL4. These flies are homozygous viable but display severe bang sensitivity, a phenotype associated with seizures in flies. Additionally, the mutant flies fall when climbing the walls of the vials, suggesting a defect in grip strength, and repeat the cycle of climbing and falling. Similar to wall clinging defect, mutant males often lose grip of the female abdomen during copulation. These phenotypes are rescued by using the GAL4 in the CG12333/wdr37 locus to drive the UAS-human reference WDR37 cDNA. The two variants found in three human subjects failed to rescue these phenotypes, suggesting that these alleles severely affect the function of this protein. Taken together, our data suggest that variants in WDR37 underlie a novel syndromic neurological disorder.
Published: 2019

37. Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders.

Author: Guo, Hui, Guo, Hui, Bettella, Elisa, Marcogliese, Paul, Zhao, Rongjuan, Andrews, Jonathan, Nowakowski, Tomasz, Gillentine, Madelyn, Hoekzema, Kendra, Wang, Tianyun, Wu, Huidan, Jangam, Sharayu, Liu, Cenying, Ni, Hailun, Willemsen, Marjolein, van Bon, Bregje, Rinne, Tuula, Stevens, Servi, Kleefstra, Tjitske, Brunner, Han, Yntema, Helger, Long, Min, Zhao, Wenjing, Hu, Zhengmao, Colson, Cindy, Richard, Nicolas, Schwartz, Charles, Romano, Corrado, Castiglia, Lucia, Bottitta, Maria, Dhar, Shweta, Erwin, Deanna, Emrick, Lisa, Keren, Boris, Afenjar, Alexandra, Zhu, Baosheng, Bai, Bing, Stankiewicz, Pawel, Mercimek-Andrews, Saadet, Juusola, Jane, Wilfert, Amy, Abou Jamra, Rami, Büttner, Benjamin, Mefford, Heather, Muir, Alison, Scheffer, Ingrid, Regan, Brigid, Malone, Stephen, Gecz, Jozef, Cobben, Jan, Weiss, Marjan, Waisfisz, Quinten, Bijlsma, Emilia, Hoffer, Mariëtte, Ruivenkamp, Claudia, Sartori, Stefano, Xia, Fan, Rosenfeld, Jill, Bernier, Raphael, Wangler, Michael, Yamamoto, Shinya, Xia, Kun, Stegmann, Alexander, Bellen, Hugo, Murgia, Alessandra, Eichler, Evan, Herman, Kristin, Guo, Hui, Guo, Hui, Bettella, Elisa, Marcogliese, Paul, Zhao, Rongjuan, Andrews, Jonathan, Nowakowski, Tomasz, Gillentine, Madelyn, Hoekzema, Kendra, Wang, Tianyun, Wu, Huidan, Jangam, Sharayu, Liu, Cenying, Ni, Hailun, Willemsen, Marjolein, van Bon, Bregje, Rinne, Tuula, Stevens, Servi, Kleefstra, Tjitske, Brunner, Han, Yntema, Helger, Long, Min, Zhao, Wenjing, Hu, Zhengmao, Colson, Cindy, Richard, Nicolas, Schwartz, Charles, Romano, Corrado, Castiglia, Lucia, Bottitta, Maria, Dhar, Shweta, Erwin, Deanna, Emrick, Lisa, Keren, Boris, Afenjar, Alexandra, Zhu, Baosheng, Bai, Bing, Stankiewicz, Pawel, Mercimek-Andrews, Saadet, Juusola, Jane, Wilfert, Amy, Abou Jamra, Rami, Büttner, Benjamin, Mefford, Heather, Muir, Alison, Scheffer, Ingrid, Regan, Brigid, Malone, Stephen, Gecz, Jozef, Cobben, Jan, Weiss, Marjan, Waisfisz, Quinten, Bijlsma, Emilia, Hoffer, Mariëtte, Ruivenkamp, Claudia, Sartori, Stefano, Xia, Fan, Rosenfeld, Jill, Bernier, Raphael, Wangler, Michael, Yamamoto, Shinya, Xia, Kun, Stegmann, Alexander, Bellen, Hugo, Murgia, Alessandra, Eichler, Evan, and Herman, Kristin
Abstract: Postsynaptic density (PSD) proteins have been implicated in the pathophysiology of neurodevelopmental and psychiatric disorders. Here, we present detailed clinical and genetic data for 20 patients with likely gene-disrupting mutations in TANC2-whose protein product interacts with multiple PSD proteins. Pediatric patients with disruptive mutations present with autism, intellectual disability, and delayed language and motor development. In addition to a variable degree of epilepsy and facial dysmorphism, we observe a pattern of more complex psychiatric dysfunction or behavioral problems in adult probands or carrier parents. Although this observation requires replication to establish statistical significance, it also suggests that mutations in this gene are associated with a variety of neuropsychiatric disorders consistent with its postsynaptic function. We find that TANC2 is expressed broadly in the human developing brain, especially in excitatory neurons and glial cells, but shows a more restricted pattern in Drosophila glial cells where its disruption affects behavioral outcomes.
Published: 2019

38. Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region

Author: Kelly, McKenna, Park, Meredith, Mihalek, Ivana, Rochtus, Anne, Gramm, Marie, Perez-Palma, Eduardo, Axeen, Erika Takle, Hung, Christina Y., Olson, Heather, Swanson, Lindsay, Anselm, Irina, Briere, Lauren C., High, Frances A., Sweetser, David A., Kayani, Saima, Snyder, Molly, Calvert, Sophie, Scheffer, Ingrid E., Yang, Edward, Waugh, Jeff L., Lal, Dennis, Bodamer, Olaf, Poduri, Annapurna, Adams, David R., Aday, Aaron, Alejandro, Mercedes E., Allard, Patrick, Ashley, Euan A., Azamian, Mahshid S., Bacino, Carlos A., Baker, Eva, Balasubramanyam, Ashok, Barseghyan, Hayk, Batzli, Gabriel F., Beggs, Alan H., Behnam, Babak, Bellen, Hugo J., Bernstein, Jonathan A., Bican, Anna, Bick, David P., Birch, Camille L., Bonner, Devon, Boone, Braden E., Bostwick, Bret L., Brokamp, Elly, Brown, Donna M., Brush, Matthew, Burke, Elizabeth A., Burrage, Lindsay C., Butte, Manish J., Chen, Shan, Clark, Gary D., Coakley, Terra R., Cogan, Joy D., Colley, Heather A., Cooper, Cynthia M., Cope, Heidi, Craigen, William J., D'Souza, Precilla, Davids, Mariska, Davidson, Jean M., Dayal, Jyoti G., Dell'Angelica, Esteban C., Dhar, Shweta U., Dipple, Katrina M., Donnell-Fink, Laurel A., Dorrani, Naghmeh, Dorset, Daniel C., Douine, Emilie D., Draper, David D., Dries, Annika M., Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Enns, Gre-Gory M., Eskin, Ascia, Esteves, Cecilia, Estwick, Tyra, Fairbrother, Laura, Fernandez, Liliana, Ferreira, Carlos, Fieg, Elizabeth L., Fisher, Paul G., Fogel, Brent L., Friedman, Noah D., Gahl, William A., Glanton, Emily, Godfrey, Rena A., Goldman, Alica M., Goldstein, David B., Gould, Sarah E., Gourdine, Jean-Philippe F., Groden, Catherine A., Gropman, Andrea L., Haendel, Melissa, Hamid, Rizwan, Hanchard, Neil A., High, Francis, Holm, Ingrid A., Horn, Jason, Howerton, Ellen M., Huang, Yong, Jamal, Fariha, Jiang, Yong-hui, Johnston, Jean M., Jones, Angela L., Karaviti, Lefkothea, Koeller, David M., Kohane, Isaac S., Kohler, Jennefer N., Konick, Susan, Koziura, Mary, Krasnewich, Donna M., Krier, Joel B., Kyle, Jennifer E., Lalani, Seema R., Lau, C. Christopher, Lazar, Jozef, LeBlanc, Kimberly, Lee, Brendan H., Lee, Hane, Levy, Shawn E., Lewis, Richard A., Lincoln, Sharyn A., Loo, Sandra K., Loscalzo, Joseph, Maas, Richard L., Macnamara, Ellen F., MacRae, Calum A., Maduro, Valerie V., Majch-erska, Marta M., Malicdan, May Christine, V, Mamounas, Laura A., Manolio, Teri A., Markello, Thomas C., Marom, Ronit, Martin, Martin G., Martinez-Agosto, Julian A., Mar-waha, Shruti, May, Thomas, McConkie-Rosell, Allyn, McCormack, Colleen E., McCray, Alexa F., Merker, Jason D., Metz, Thomas O., Might, Matthew, Moretti, Paolo M., Morimoto, Marie, Mulvihill, John J., Murdock, David R., Murphy, Jennifer L., Muzny, Donna M., Nehrebecky, Michele E., Nelson, Stan F., Newberry, J. Scott, Newman, John H., Nicholas, Sarah K., Novacic, Donna, Orange, Jordan S., Orengo, James P., Pallais, J. Carl, Palmer, Christina G. S., Papp, Jeanette C., Parker, Neil H., Pena, Loren D. M., Phillips, John A., III, Posey, Jennifer E., Postlethwait, John H., Potocki, Lorraine, Pusey, Barbara N., Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Rosenfeld, Jill A., Sampson, Jacinda B., Samson, Susan L., Schoch, Kelly, Scott, Daryl A., Shakachite, Lisa, Sharma, Prashant, Shashi, Vandana, Signer, Rebecca, Silverman, Edwin K., Sinsheimer, Janet S., Smith, Kevin S., Spillmann, Rebecca C., Stoler, Joan M., Stong, Nicholas, Sullivan, Jennifer A., Tan, Queenie K-G, Tifft, Cynthia J., Toro, Camilo, Tran, Alyssa A., Urv, Tiina K., Vilain, Eric, Vogel, Tiphanie P., Waggott, Daryl M., Wahl, Colleen E., Walker, Melissa, Walley, Nicole M., Walsh, Chris A., Wan, Jijun, Wangler, Michael F., Ward, Patricia A., Waters, Katrina M., Webb-Robertson, Bobbie-Jo M., Westerfield, Monte, Wheeler, Matthew T., Wise, Anastasia L., Wolfe, Lynne A., Worthey, Elizabeth A., Yamamoto, Shinya, Yang, Yaping, Yoon, Amanda J., Yu, Guoyun, Zastrow, Diane B., Zhao, Chunli, Zheng, Allison, Kelly, McKenna, Park, Meredith, Mihalek, Ivana, Rochtus, Anne, Gramm, Marie, Perez-Palma, Eduardo, Axeen, Erika Takle, Hung, Christina Y., Olson, Heather, Swanson, Lindsay, Anselm, Irina, Briere, Lauren C., High, Frances A., Sweetser, David A., Kayani, Saima, Snyder, Molly, Calvert, Sophie, Scheffer, Ingrid E., Yang, Edward, Waugh, Jeff L., Lal, Dennis, Bodamer, Olaf, Poduri, Annapurna, Adams, David R., Aday, Aaron, Alejandro, Mercedes E., Allard, Patrick, Ashley, Euan A., Azamian, Mahshid S., Bacino, Carlos A., Baker, Eva, Balasubramanyam, Ashok, Barseghyan, Hayk, Batzli, Gabriel F., Beggs, Alan H., Behnam, Babak, Bellen, Hugo J., Bernstein, Jonathan A., Bican, Anna, Bick, David P., Birch, Camille L., Bonner, Devon, Boone, Braden E., Bostwick, Bret L., Brokamp, Elly, Brown, Donna M., Brush, Matthew, Burke, Elizabeth A., Burrage, Lindsay C., Butte, Manish J., Chen, Shan, Clark, Gary D., Coakley, Terra R., Cogan, Joy D., Colley, Heather A., Cooper, Cynthia M., Cope, Heidi, Craigen, William J., D'Souza, Precilla, Davids, Mariska, Davidson, Jean M., Dayal, Jyoti G., Dell'Angelica, Esteban C., Dhar, Shweta U., Dipple, Katrina M., Donnell-Fink, Laurel A., Dorrani, Naghmeh, Dorset, Daniel C., Douine, Emilie D., Draper, David D., Dries, Annika M., Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Enns, Gre-Gory M., Eskin, Ascia, Esteves, Cecilia, Estwick, Tyra, Fairbrother, Laura, Fernandez, Liliana, Ferreira, Carlos, Fieg, Elizabeth L., Fisher, Paul G., Fogel, Brent L., Friedman, Noah D., Gahl, William A., Glanton, Emily, Godfrey, Rena A., Goldman, Alica M., Goldstein, David B., Gould, Sarah E., Gourdine, Jean-Philippe F., Groden, Catherine A., Gropman, Andrea L., Haendel, Melissa, Hamid, Rizwan, Hanchard, Neil A., High, Francis, Holm, Ingrid A., Horn, Jason, Howerton, Ellen M., Huang, Yong, Jamal, Fariha, Jiang, Yong-hui, Johnston, Jean M., Jones, Angela L., Karaviti, Lefkothea, Koeller, David M., Kohane, Isaac S., Kohler, Jennefer N., Konick, Susan, Koziura, Mary, Krasnewich, Donna M., Krier, Joel B., Kyle, Jennifer E., Lalani, Seema R., Lau, C. Christopher, Lazar, Jozef, LeBlanc, Kimberly, Lee, Brendan H., Lee, Hane, Levy, Shawn E., Lewis, Richard A., Lincoln, Sharyn A., Loo, Sandra K., Loscalzo, Joseph, Maas, Richard L., Macnamara, Ellen F., MacRae, Calum A., Maduro, Valerie V., Majch-erska, Marta M., Malicdan, May Christine, V, Mamounas, Laura A., Manolio, Teri A., Markello, Thomas C., Marom, Ronit, Martin, Martin G., Martinez-Agosto, Julian A., Mar-waha, Shruti, May, Thomas, McConkie-Rosell, Allyn, McCormack, Colleen E., McCray, Alexa F., Merker, Jason D., Metz, Thomas O., Might, Matthew, Moretti, Paolo M., Morimoto, Marie, Mulvihill, John J., Murdock, David R., Murphy, Jennifer L., Muzny, Donna M., Nehrebecky, Michele E., Nelson, Stan F., Newberry, J. Scott, Newman, John H., Nicholas, Sarah K., Novacic, Donna, Orange, Jordan S., Orengo, James P., Pallais, J. Carl, Palmer, Christina G. S., Papp, Jeanette C., Parker, Neil H., Pena, Loren D. M., Phillips, John A., III, Posey, Jennifer E., Postlethwait, John H., Potocki, Lorraine, Pusey, Barbara N., Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Rosenfeld, Jill A., Sampson, Jacinda B., Samson, Susan L., Schoch, Kelly, Scott, Daryl A., Shakachite, Lisa, Sharma, Prashant, Shashi, Vandana, Signer, Rebecca, Silverman, Edwin K., Sinsheimer, Janet S., Smith, Kevin S., Spillmann, Rebecca C., Stoler, Joan M., Stong, Nicholas, Sullivan, Jennifer A., Tan, Queenie K-G, Tifft, Cynthia J., Toro, Camilo, Tran, Alyssa A., Urv, Tiina K., Vilain, Eric, Vogel, Tiphanie P., Waggott, Daryl M., Wahl, Colleen E., Walker, Melissa, Walley, Nicole M., Walsh, Chris A., Wan, Jijun, Wangler, Michael F., Ward, Patricia A., Waters, Katrina M., Webb-Robertson, Bobbie-Jo M., Westerfield, Monte, Wheeler, Matthew T., Wise, Anastasia L., Wolfe, Lynne A., Worthey, Elizabeth A., Yamamoto, Shinya, Yang, Yaping, Yoon, Amanda J., Yu, Guoyun, Zastrow, Diane B., Zhao, Chunli, and Zheng, Allison
Abstract: Objective To characterize the phenotypic spectrum associated with GNAO1 variants and establish genotype-protein structure-phenotype relationships. Methods We evaluated the phenotypes of 14 patients with GNAO1 variants, analyzed their variants for potential pathogenicity, and mapped them, along with those in the literature, on a three-dimensional structural protein model. Results The 14 patients in our cohort, including one sibling pair, had 13 distinct, heterozygous GNAO1 variants classified as pathogenic or likely pathogenic. We attributed the same variant in two siblings to parental mosaicism. Patients initially presented with seizures beginning in the first 3 months of life (8/14), developmental delay (4/14), hypotonia (1/14), or movement disorder (1/14). All patients had hypotonia and developmental delay ranging from mild to severe. Nine had epilepsy, and nine had movement disorders, including dystonia, ataxia, chorea, and dyskinesia. The 13 GNAO1 variants in our patients are predicted to result in amino acid substitutions or deletions in the GNAO1 guanosine triphosphate (GTP)-binding region, analogous to those in previous publications. Patients with variants affecting amino acids 207-221 had only movement disorder and hypotonia. Patients with variants affecting the C-terminal region had the mildest phenotypes.
Published: 2019

39. Spatial positioning of individuals in a group of feral horses: a case study using drone technology

Author: 40585767, 80396225, Inoue, Sota, Yamamoto, Shinya, Ringhofer, Monamie, Mendonça, Renata S., Pereira, Carlos, Hirata, Satoshi, 40585767, 80396225, Inoue, Sota, Yamamoto, Shinya, Ringhofer, Monamie, Mendonça, Renata S., Pereira, Carlos, and Hirata, Satoshi
Abstract: Spatial positioning of individuals in animal groups has been studied from numerous perspectives. However, although many studies have focused on spatial position in flocks of birds and schools of fish, relatively few studies have been conducted in mammals with high accuracy. Because some mammal species form societies, we wondered how social relationships among mammals within a group influence each individual’s spatial position. To address this issue, we used drones to obtain accurate positioning of individuals in a feral horse group on the Serra D’ Arga mountain in Portugal. The results of our study revealed the following characteristics: (1) the male in between social and spatial relationships indicated that they are independent from each other. The present study is the first to reveal the characteristics of spatial positioning in a mammalian group using drone technology. The harem group was located in the periphery; (2) as in other species, individuals had areas of repulsion and attraction, and (3) nearest neighbors were located more toward the sides than to the back or front. We also measured the social relationships between individuals in terms of grooming frequency. Social network analyses of the correlation between social and spatial relationships indicated that they are independent from each other. The present study is the first to reveal the characteristics of spatial positioning in a mammalian group using drone technology.
Published: 2018

40. This title is unavailable for guests, please login to see more information.

Author: UEMURA, Keita, TAKAHASHI, Yoshikazu, YAMAMOTO, Shinya, 80882133, 10283623, UEMURA, Keita, TAKAHASHI, Yoshikazu, YAMAMOTO, Shinya, 80882133, and 10283623
Abstract: In seismic design for RC columns, it is necessary to improve ductility and prevent sharp load decrease of RC columns. In this research, the hook with head is suggested to prevent buckling of longitudinal bars, and the advantage effect of the hook with head was examined by cyclic loading tests. As a result, it was more effective for improving load decrease to use the hook with head than to use hoops. However, the hook with head can't resist buckling deformation of longitudinal bars because of opening of the hook after the buckling of longitudinal bar occurs. Therefore, improvement of the hook with head is necessary so as not to open the hook.
Published: 2018

41. 数学的モデルの考察とその利用に関する研究

Author: Yamamoto, Shinya and Yamamoto, Shinya
Published: 2018

42. 「構想力」の養成と数学科授業

Author: Yamamoto, Shinya and Yamamoto, Shinya
Published: 2018

43. 逆解析を用いた地下水流動のモデル化・解析に関する研究,2(共同研究)

Author: 尾上博則, Onoe, Hironori, 山本真哉, Yamamoto, Shinya, 小橋昭夫, Kohashi, Akio, 尾崎裕介, Ozaki, Yusuke, 櫻井英行, Sakurai, Hideyuki, 増本清, Masumoto, Kiyoshi, 尾上博則, Onoe, Hironori, 山本真哉, Yamamoto, Shinya, 小橋昭夫, Kohashi, Akio, 尾崎裕介, Ozaki, Yusuke, 櫻井英行, Sakurai, Hideyuki, 増本清, and Masumoto, Kiyoshi
Abstract: 本研究では瑞浪超深地層研究所周辺における透水不均質性の高い岩盤を対象とした数値実験を実施し、推定対象とする水理地質構造を絞り込むことや評価対象領域の水理地質構造を考慮した観測点の配置が重要であることを確認した。さらに、原位置で実施した揚水試験データを用いた逆解析を実施し、水圧応答データを用いた逆解析が、重要な水理地質構造の特定や水理地質構造の概念および解析モデルの信頼性の確認・向上といった地下水流動特性評価に有効であることが示された。, In this study, numerical experiments considered hydrogeological structures, which has high heterogeneity around the Mizunami Underground Research Laboratory and inverse analysis using in-situ data were carried out. The results showed that concentration of hydrogeological structure to be estimated and location of monitoring point is important for application of inverse analysis. Furthermore, it is concluded that inverse analysis using hydraulic response due to pumping test is effective for hydrogeological characterization., 著者所属: 日本原子力研究開発機構(JAEA), JAEA-Research 2018-003
Published: 2018

44. Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease.

Author: Splinter, Kimberly, Splinter, Kimberly, Adams, David R, Bacino, Carlos A, Bellen, Hugo J, Bernstein, Jonathan A, Cheatle-Jarvela, Alys M, Eng, Christine M, Esteves, Cecilia, Gahl, William A, Hamid, Rizwan, Jacob, Howard J, Kikani, Bijal, Koeller, David M, Kohane, Isaac S, Lee, Brendan H, Loscalzo, Joseph, Luo, Xi, McCray, Alexa T, Metz, Thomas O, Mulvihill, John J, Nelson, Stanley F, Palmer, Christina GS, Phillips, John A, Pick, Leslie, Postlethwait, John H, Reuter, Chloe, Shashi, Vandana, Sweetser, David A, Tifft, Cynthia J, Walley, Nicole M, Wangler, Michael F, Westerfield, Monte, Wheeler, Matthew T, Wise, Anastasia L, Worthey, Elizabeth A, Yamamoto, Shinya, Ashley, Euan A, Undiagnosed Diseases Network, Splinter, Kimberly, Splinter, Kimberly, Adams, David R, Bacino, Carlos A, Bellen, Hugo J, Bernstein, Jonathan A, Cheatle-Jarvela, Alys M, Eng, Christine M, Esteves, Cecilia, Gahl, William A, Hamid, Rizwan, Jacob, Howard J, Kikani, Bijal, Koeller, David M, Kohane, Isaac S, Lee, Brendan H, Loscalzo, Joseph, Luo, Xi, McCray, Alexa T, Metz, Thomas O, Mulvihill, John J, Nelson, Stanley F, Palmer, Christina GS, Phillips, John A, Pick, Leslie, Postlethwait, John H, Reuter, Chloe, Shashi, Vandana, Sweetser, David A, Tifft, Cynthia J, Walley, Nicole M, Wangler, Michael F, Westerfield, Monte, Wheeler, Matthew T, Wise, Anastasia L, Worthey, Elizabeth A, Yamamoto, Shinya, Ashley, Euan A, and Undiagnosed Diseases Network
Abstract: BackgroundMany patients remain without a diagnosis despite extensive medical evaluation. The Undiagnosed Diseases Network (UDN) was established to apply a multidisciplinary model in the evaluation of the most challenging cases and to identify the biologic characteristics of newly discovered diseases. The UDN, which is funded by the National Institutes of Health, was formed in 2014 as a network of seven clinical sites, two sequencing cores, and a coordinating center. Later, a central biorepository, a metabolomics core, and a model organisms screening center were added.MethodsWe evaluated patients who were referred to the UDN over a period of 20 months. The patients were required to have an undiagnosed condition despite thorough evaluation by a health care provider. We determined the rate of diagnosis among patients who subsequently had a complete evaluation, and we observed the effect of diagnosis on medical care.ResultsA total of 1519 patients (53% female) were referred to the UDN, of whom 601 (40%) were accepted for evaluation. Of the accepted patients, 192 (32%) had previously undergone exome sequencing. Symptoms were neurologic in 40% of the applicants, musculoskeletal in 10%, immunologic in 7%, gastrointestinal in 7%, and rheumatologic in 6%. Of the 382 patients who had a complete evaluation, 132 received a diagnosis, yielding a rate of diagnosis of 35%. A total of 15 diagnoses (11%) were made by clinical review alone, and 98 (74%) were made by exome or genome sequencing. Of the diagnoses, 21% led to recommendations regarding changes in therapy, 37% led to changes in diagnostic testing, and 36% led to variant-specific genetic counseling. We defined 31 new syndromes.ConclusionsThe UDN established a diagnosis in 132 of the 382 patients who had a complete evaluation, yielding a rate of diagnosis of 35%. (Funded by the National Institutes of Health Common Fund.).
Published: 2018

45. IRF2BPL Is Associated with Neurological Phenotypes.

Author: Marcogliese, Paul C, Marcogliese, Paul C, Shashi, Vandana, Spillmann, Rebecca C, Stong, Nicholas, Rosenfeld, Jill A, Koenig, Mary Kay, Martínez-Agosto, Julián A, Herzog, Matthew, Chen, Agnes H, Dickson, Patricia I, Lin, Henry J, Vera, Moin U, Salamon, Noriko, Graham, John M, Ortiz, Damara, Infante, Elena, Steyaert, Wouter, Dermaut, Bart, Poppe, Bruce, Chung, Hyung-Lok, Zuo, Zhongyuan, Lee, Pei-Tseng, Kanca, Oguz, Xia, Fan, Yang, Yaping, Smith, Edward C, Jasien, Joan, Kansagra, Sujay, Spiridigliozzi, Gail, El-Dairi, Mays, Lark, Robert, Riley, Kacie, Koeberl, Dwight D, Golden-Grant, Katie, Program for Undiagnosed Diseases (UD-PrOZA), Undiagnosed Diseases Network, Yamamoto, Shinya, Wangler, Michael F, Mirzaa, Ghayda, Hemelsoet, Dimitri, Lee, Brendan, Nelson, Stanley F, Goldstein, David B, Bellen, Hugo J, Pena, Loren DM, Marcogliese, Paul C, Marcogliese, Paul C, Shashi, Vandana, Spillmann, Rebecca C, Stong, Nicholas, Rosenfeld, Jill A, Koenig, Mary Kay, Martínez-Agosto, Julián A, Herzog, Matthew, Chen, Agnes H, Dickson, Patricia I, Lin, Henry J, Vera, Moin U, Salamon, Noriko, Graham, John M, Ortiz, Damara, Infante, Elena, Steyaert, Wouter, Dermaut, Bart, Poppe, Bruce, Chung, Hyung-Lok, Zuo, Zhongyuan, Lee, Pei-Tseng, Kanca, Oguz, Xia, Fan, Yang, Yaping, Smith, Edward C, Jasien, Joan, Kansagra, Sujay, Spiridigliozzi, Gail, El-Dairi, Mays, Lark, Robert, Riley, Kacie, Koeberl, Dwight D, Golden-Grant, Katie, Program for Undiagnosed Diseases (UD-PrOZA), Undiagnosed Diseases Network, Yamamoto, Shinya, Wangler, Michael F, Mirzaa, Ghayda, Hemelsoet, Dimitri, Lee, Brendan, Nelson, Stanley F, Goldstein, David B, Bellen, Hugo J, and Pena, Loren DM
Abstract: Interferon regulatory factor 2 binding protein-like (IRF2BPL) encodes a member of the IRF2BP family of transcriptional regulators. Currently the biological function of this gene is obscure, and the gene has not been associated with a Mendelian disease. Here we describe seven individuals who carry damaging heterozygous variants in IRF2BPL and are affected with neurological symptoms. Five individuals who carry IRF2BPL nonsense variants resulting in a premature stop codon display severe neurodevelopmental regression, hypotonia, progressive ataxia, seizures, and a lack of coordination. Two additional individuals, both with missense variants, display global developmental delay and seizures and a relatively milder phenotype than those with nonsense alleles. The IRF2BPL bioinformatics signature based on population genomics is consistent with a gene that is intolerant to variation. We show that the fruit-fly IRF2BPL ortholog, called pits (protein interacting with Ttk69 and Sin3A), is broadly detected, including in the nervous system. Complete loss of pits is lethal early in development, whereas partial knockdown with RNA interference in neurons leads to neurodegeneration, revealing a requirement for this gene in proper neuronal function and maintenance. The identified IRF2BPL nonsense variants behave as severe loss-of-function alleles in this model organism, and ectopic expression of the missense variants leads to a range of phenotypes. Taken together, our results show that IRF2BPL and pits are required in the nervous system in humans and flies, and their loss leads to a range of neurological phenotypes in both species.
Published: 2018

46. Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research.

Author: Wangler, Michael, Wangler, Michael, Yamamoto, Shinya, Chao, Hsiao-Tuan, Posey, Jennifer, Westerfield, Monte, Postlethwait, John, Hieter, Philip, Boycott, Kym, Campeau, Philippe, Bellen, Hugo, Wangler, Michael, Wangler, Michael, Yamamoto, Shinya, Chao, Hsiao-Tuan, Posey, Jennifer, Westerfield, Monte, Postlethwait, John, Hieter, Philip, Boycott, Kym, Campeau, Philippe, and Bellen, Hugo
Abstract: Efforts to identify the genetic underpinnings of rare undiagnosed diseases increasingly involve the use of next-generation sequencing and comparative genomic hybridization methods. These efforts are limited by a lack of knowledge regarding gene function, and an inability to predict the impact of genetic variation on the encoded protein function. Diagnostic challenges posed by undiagnosed diseases have solutions in model organism research, which provides a wealth of detailed biological information. Model organism geneticists are by necessity experts in particular genes, gene families, specific organs, and biological functions. Here, we review the current state of research into undiagnosed diseases, highlighting large efforts in North America and internationally, including the Undiagnosed Diseases Network (UDN) (Supplemental Material, File S1) and UDN International (UDNI), the Centers for Mendelian Genomics (CMG), and the Canadian Rare Diseases Models and Mechanisms Network (RDMM). We discuss how merging human genetics with model organism research guides experimental studies to solve these medical mysteries, gain new insights into disease pathogenesis, and uncover new therapeutic strategies.
Published: 2017

47. Neutral Competition for Drosophila Follicle and Cyst Stem Cell Niches Requires Vesicle Trafficking Genes.

Author: Cook, Matthew S, Cook, Matthew S, Cazin, Coralie, Amoyel, Marc, Yamamoto, Shinya, Bach, Erika, Nystul, Todd, Cook, Matthew S, Cook, Matthew S, Cazin, Coralie, Amoyel, Marc, Yamamoto, Shinya, Bach, Erika, and Nystul, Todd
Abstract: The process of selecting for cellular fitness through competition plays a critical role in both development and disease. The germarium, a structure at the tip of the ovariole of a Drosophila ovary, contains two follicle stem cells (FSCs) that undergo neutral competition for the stem cell niche. Using the FSCs as a model, we performed a genetic screen through a collection of 126 mutants in essential genes on the X chromosome to identify candidates that increase or decrease competition for the FSC niche. We identified ∼55 and 6% of the mutations screened as putative FSC hypo- or hyper-competitors, respectively. We found that a large majority of mutations in vesicle trafficking genes (11 out of the 13 in the collection of mutants) are candidate hypo-competition alleles, and we confirmed the hypo-competition phenotype for four of these alleles. We also show that Sec16 and another COPII vesicle trafficking component, Sar1, are required for follicle cell differentiation. Lastly, we demonstrate that, although some components of vesicle trafficking are also required for neutral competition in the cyst stem cells of the testis, there are important tissue-specific differences. Our results demonstrate a critical role for vesicle trafficking in stem cell niche competition and differentiation, and we identify a number of putative candidates for further exploration.
Published: 2017

48. Neutral Competition for Drosophila Follicle and Cyst Stem Cell Niches Requires Vesicle Trafficking Genes.

Author: Cook, Matthew S, Cook, Matthew S, Cazin, Coralie, Amoyel, Marc, Yamamoto, Shinya, Bach, Erika, Nystul, Todd, Cook, Matthew S, Cook, Matthew S, Cazin, Coralie, Amoyel, Marc, Yamamoto, Shinya, Bach, Erika, and Nystul, Todd
Abstract: The process of selecting for cellular fitness through competition plays a critical role in both development and disease. The germarium, a structure at the tip of the ovariole of a Drosophila ovary, contains two follicle stem cells (FSCs) that undergo neutral competition for the stem cell niche. Using the FSCs as a model, we performed a genetic screen through a collection of 126 mutants in essential genes on the X chromosome to identify candidates that increase or decrease competition for the FSC niche. We identified ∼55 and 6% of the mutations screened as putative FSC hypo- or hyper-competitors, respectively. We found that a large majority of mutations in vesicle trafficking genes (11 out of the 13 in the collection of mutants) are candidate hypo-competition alleles, and we confirmed the hypo-competition phenotype for four of these alleles. We also show that Sec16 and another COPII vesicle trafficking component, Sar1, are required for follicle cell differentiation. Lastly, we demonstrate that, although some components of vesicle trafficking are also required for neutral competition in the cyst stem cells of the testis, there are important tissue-specific differences. Our results demonstrate a critical role for vesicle trafficking in stem cell niche competition and differentiation, and we identify a number of putative candidates for further exploration.
Published: 2017

49. Mirrors Have a Modest Effect on Human Impulsivity

Author: 40585767, Shinohara, Asami, Yamamoto, Shinya, 40585767, Shinohara, Asami, and Yamamoto, Shinya
Published: 2016

50. 逆解析を用いた地下水流動のモデル化・解析に関する研究(共同研究)

Author: 小橋昭夫, Kohashi, Akio, 尾上博則, Onoe, Hironori, 山本真哉, Yamamoto, Shinya, 本多眞, Honda, Makoto, 櫻井英行, Sakurai, Hideyuki, 増本清, Masumoto, Kiyoshi, 小橋昭夫, Kohashi, Akio, 尾上博則, Onoe, Hironori, 山本真哉, Yamamoto, Shinya, 本多眞, Honda, Makoto, 櫻井英行, Sakurai, Hideyuki, 増本清, and Masumoto, Kiyoshi
Abstract: 高レベル放射性廃棄物の地層処分事業においては、地表より300m以深の地下深部に数km四方の地下施設が建設される。地層処分の安全性の評価にあたっては、放射性核種の主要な移行媒体となる地下水の流動特性やその不均質性を把握することが重要である。岩盤中には周辺岩盤と比較して数桁に渡り透水性の異なる断層や亀裂といった不連続構造が分布している。それらは空間的な透水不均質性の要因であり、地下水の流動方向や流速に大きな影響を与えている。このような透水不均質を効率的に推定するにあたっては、揚水試験などによる地下水圧変化データを用いた地下水流動の逆解析が有効な手法の1つとして挙げられる。一方で、原位置調査には調査数量や工期といった様々な制約があり、取得される調査データは限られたものとなる。また、調査の量や質に応じて最適な逆解析手法を選定する必要があると考えられる。そこで、本研究では地下水流動評価における逆解析手法の適用方法の検討に資することを目的として、複数の解析手法を用いた数値実験を実施した。さらに、得られた結果に基づき、解析手法の違いが解析結果に及ぼす影響の分析、およびそれぞれの手法の適用性を整理した。比較検討には、変分法による随伴方程式を用いたデータ同化手法であるアジョイント法、および逐次データ同化手法の一種であるアンサンブルカルマンフィルタによる逆解析手法を適用した。, In Japan, high-level radioactive waste (HLW) will be emplaced in a stable host rock formation deeper than 300 meters underground for geological disposal. It is important to understand heterogeneous distribution of hydraulic conductivity from the viewpoints of the safety assessment of geological disposal of HLW and construction of underground facilities. Inverse analysis based on the transient data is an efficient technique for estimating the heterogeneous distribution. In this study, numerical experiments with the adjoint state method and the ensemble Kalman filter were carried out in order to understand effective method for application of these inverse analysis. As a result of this study, the capability of each analysis techniques was shown., 著者所属: 日本原子力研究開発機構(JAEA), JAEA-Research 2015-022
Published: 2016

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