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2,069 results on '"Yamamoto, Shinya"'

208. Truly Useful 3D Drawing System for Professional Designer by 'Life-Sized and Operable' Feature and New Interaction

Author

Tano, Shun’ichi, Yamamoto, Shinya, Ichino, Junko, Hashiyama, Tomonori, Iwata, Mitsuru, Hutchison, David, editor, Kanade, Takeo, editor, Kittler, Josef, editor, Kleinberg, Jon M., editor, Mattern, Friedemann, editor, Mitchell, John C., editor, Naor, Moni, editor, Nierstrasz, Oscar, editor, Pandu Rangan, C., editor, Steffen, Bernhard, editor, Sudan, Madhu, editor, Terzopoulos, Demetri, editor, Tygar, Doug, editor, Vardi, Moshe Y., editor, Weikum, Gerhard, editor, Kotzé, Paula, editor, Marsden, Gary, editor, Lindgaard, Gitte, editor, Wesson, Janet, editor, and Winckler, Marco, editor

Published
2013
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214. Characterization of the SARS-CoV-2 B.1.621 (Mu) variant

Author

Halfmann, Peter J., primary, Kuroda, Makoto, additional, Armbrust, Tammy, additional, Theiler, James, additional, Balaram, Ariane, additional, Moreno, Gage K., additional, Accola, Molly A., additional, Iwatsuki-Horimoto, Kiyoko, additional, Valdez, Riccardo, additional, Stoneman, Emily, additional, Braun, Katarina, additional, Yamayoshi, Seiya, additional, Somsen, Elizabeth, additional, Baczenas, John J., additional, Mitamura, Keiko, additional, Hagihara, Masao, additional, Adachi, Eisuke, additional, Koga, Michiko, additional, McLaughlin, Matthew, additional, Rehrauer, William, additional, Imai, Masaki, additional, Yamamoto, Shinya, additional, Tsutsumi, Takeya, additional, Saito, Makoto, additional, Friedrich, Thomas C., additional, O’Connor, Shelby L., additional, O’Connor, David H., additional, Gordon, Aubree, additional, Korber, Bette, additional, and Kawaoka, Yoshihiro, additional

Published
2022
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219. Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy

Author

Parenti, Ilaria, Lehalle, Daphné, Nava, Caroline, Torti, Erin, Leitão, Elsa, Person, Richard, Mizuguchi, Takeshi, Matsumoto, Naomichi, Kato, Mitsuhiro, Nakamura, Kazuyuki, de Man, Stella A., Cope, Heidi, Shashi, Vandana, Friedman, Jennifer, Joset, Pascal, Steindl, Katharina, Rauch, Anita, Muffels, Irena, van Hasselt, Peter M., Petit, Florence, Smol, Thomas, Le Guyader, Gwenaël, Bilan, Frédéric, Sorlin, Arthur, Vitobello, Antonio, Philippe, Christophe, van de Laar, Ingrid M. B. H., van Slegtenhorst, Marjon A., Campeau, Philippe M., Au, Ping Yee Billie, Nakashima, Mitsuko, Saitsu, Hirotomo, Yamamoto, Tatsuya, Nomura, Yumiko, Louie, Raymond J., Lyons, Michael J., Dobson, Amy, Plomp, Astrid S., Motazacker, M. Mahdi, Kaiser, Frank J., Timberlake, Andrew T., Fuchs, Sabine A., Depienne, Christel, Mignot, Cyril, 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, Bennet, 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., Craigen, William J., Crouse, Andrew B., Cunningham, Michael, D’Souza, Precilla, Dai, Hongzheng, Dasari, Surendra, Davis, Joie, Dayal, 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., Krakow, Deborah, Krasnewich, Donna M., Kravets, Elijah, Korrick, Susan, Koziura, Mary, Krier, Joel B., Lalani, Seema R., Lam, Byron, Lam, Christina, LaMoure, Grace L., 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, Macnamara, Ellen F., Mac-Rae, Calum A., 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., Martínez-Agosto, Julian A., 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., Mosbrook-Davis, Deborah, Mulvihill, John J., Murdock, David R., Nagy, Anna, Nakano-Okuno, Mariko, Nath, Avi, Nelson, Stan F., 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, Palmer, Christina GS., Papp, Jeanette C., Parker, Neil H., Phillips, John A., Posey, Jennifer E., Potocki, Lorraine, Power, Bradley, Pusey, Barbara N., Quinlan, Aaron, Raskind, Wendy, Raja, Archana N., Rao, Deepak A., Renteria, Genecee, Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Rosenfeld, Jill A., Rosenwasser, Natalie, Rossignol, Francis, Ruzhnikov, Maura, Sacco, Ralph, Sampson, Jacinda B., Samson, Susan L., Saporta, Mario, Scott, C. Ron, Schaechter, Judy, Schedl, Timothy, Schoch, Kelly, Scott, Daryl A., Shin, Jimann, Signer, Rebecca, Silverman, Edwin K., Sinsheimer, Janet S., Sisco, Kathy, Smith, Edward C., Smith, Kevin S., Solem, Emily, Solnica-Krezel, Lilianna, Solomon, Ben, 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., Wallace, Stephanie, Walley, Nicole M., Walsh, Chris A., Walker, Melissa, 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, Clinical Genetics, Human Genetics, ACS - Pulmonary hypertension & thrombosis, and ANS - Complex Trait Genetics

Subjects
Male, Adolescent, Mutation, Missense, Medizin, Nerve Tissue Proteins, Biology, Frameshift mutation, Chromodomain, Cohort Studies, Young Adult, Epilepsy, Neurodevelopmental disorder, Catalytic Domain, Intellectual Disability, Intellectual disability, Genetics, medicine, Humans, Missense mutation, Child, Genetics (clinical), Exome sequencing, Original Investigation, Genes, Dominant, DNA Helicases, medicine.disease, Pedigree, Neurodevelopmental Disorders, Child, Preschool, Speech delay, Female, medicine.symptom
Abstract

Located in the critical 1p36 microdeletion region, the chromodomain helicase DNA-binding protein 5 (CHD5) gene encodes a subunit of the nucleosome remodeling and deacetylation (NuRD) complex required for neuronal development. Pathogenic variants in six of nine chromodomain (CHD) genes cause autosomal dominant neurodevelopmental disorders, while CHD5-related disorders are still unknown. Thanks to GeneMatcher and international collaborations, we assembled a cohort of 16 unrelated individuals harboring heterozygous CHD5 variants, all identified by exome sequencing. Twelve patients had de novo CHD5 variants, including ten missense and two splice site variants. Three familial cases had nonsense or missense variants segregating with speech delay, learning disabilities, and/or craniosynostosis. One patient carried a frameshift variant of unknown inheritance due to unavailability of the father. The most common clinical features included language deficits (81%), behavioral symptoms (69%), intellectual disability (64%), epilepsy (62%), and motor delay (56%). Epilepsy types were variable, with West syndrome observed in three patients, generalized tonic–clonic seizures in two, and other subtypes observed in one individual each. Our findings suggest that, in line with other CHD-related disorders, heterozygous CHD5 variants are associated with a variable neurodevelopmental syndrome that includes intellectual disability with speech delay, epilepsy, and behavioral problems as main features.

Published
2021

221. Research article antibody induction and immune response in nasal cavity by third dose of SARS-CoV-2 mRNA vaccination.

Author

Ishizaka, Aya, Koga, Michiko, Mizutani, Taketoshi, Uraki, Ryuta, Yamayoshi, Seiya, Iwatsuki-Horimoto, Kiyoko, Yamamoto, Shinya, Imai, Masaki, Tsutsumi, Takeya, Suzuki, Yutaka, Kawaoka, Yoshihiro, and Yotsuyanagi, Hiroshi

Subjects
NASAL cavity, IMMUNE response, SARS-CoV-2, NASAL mucosa, MESSENGER RNA, IMMUNOGLOBULINS
Abstract

Background: The mucosa serves as the first defence against pathogens and facilitates the surveillance and elimination of symbiotic bacteria by mucosal immunity. Recently, the mRNA vaccine against SARS-CoV-2 has been demonstrated to induce secretory antibodies in the oral and nasal cavities in addition to a systemic immune response. However, the mechanism of induced immune stimulation effect on mucosal immunity and commensal bacteria profile remains unclear. Methods: Here, we longitudinally analysed the changing nasal microbiota and both systemic and nasal immune response upon SARS-CoV-2 mRNA vaccination, and evaluated how mRNA vaccination influenced nasal microbiota in 18 healthy participants who had received the third BNT162b. Results: The nasal S-RBD IgG level correlated significantly with plasma IgG levels until 1 month and the levels were sustained for 3 months post-vaccination. In contrast, nasal S-RBD IgA induction peaked at 1 month, albeit slightly, and correlated only with plasma IgA, but the induction level decreased markedly at 3 months post-vaccination. 16 S rRNA sequencing of the nasal microbiota post-vaccination revealed not an overall change, but a decrease in certain opportunistic bacteria, mainly Fusobacterium. The decrease in these bacteria was more pronounced in those who exhibited nasal S-RBD IgA induction, and those with higher S-RBD IgA induction had lower relative amounts of potentially pathogenic bacteria such as Pseudomonas pre-vaccination. In addition, plasma and mucosal S-RBD IgG levels correlated with decreased commensal pathogens such as Finegoldia. Conclusions: These findings suggest that the third dose of SARS-CoV-2 mRNA vaccination induced S-RBD antibodies in the nasal mucosa and may have stimulated mucosal immunity against opportunistic bacterial pathogens. This effect, albeit probably secondary, may be considered one of the benefits of mRNA vaccination. Furthermore, our data suggest that a cooperative function of mucosal and systemic immunity in the reduction of bacteria and provides a better understanding of the symbiotic relationship between the host and bacteria in the nasal mucosa. [ABSTRACT FROM AUTHOR]

Published
2023
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222. Exploring the mechanism of BK polyomavirus-associated nephropathy through consensus gene network approach.

Author

Sato, Noriaki, Mori, Keita P., Sakai, Kaoru, Miyata, Hitomi, Yamamoto, Shinya, Kobayashi, Takashi, Haga, Hironori, Yanagita, Motoko, and Okuno, Yasushi

Subjects
DNA repair, RENAL cell carcinoma, KIDNEY diseases, TRANSITIONAL cell carcinoma, GENE expression, GENE regulatory networks
Abstract

BK polyomavirus-associated nephropathy occurs in kidney transplant recipients under immunosuppressive treatment. BK polyomavirus is implicated in cancer development and invasion, and case reports of renal cell carcinoma and urothelial carcinoma possibly associated with BK polyomavirus has been reported. Further, it has been suggested that the immune responses of KT-related diseases could play a role in the pathogenesis and progression of renal cell carcinoma. Thus, we thought to examine the relationship between BK polyomavirus-associated nephropathy and renal cell carcinoma in terms of gene expression. To identify the common and specific immune responses involved in kidney transplantation-related diseases with a specific focus on BK polyomavirus-associated nephropathy, we performed consensus weighted gene co-expression network analysis on gene profile datasets of renal biopsy samples from different institutions. After the identification of gene modules and validation of the obtained network by immunohistochemistry of the marker across kidney transplantation-related diseases, the relationship between prognosis of renal cell carcinoma and modules was assessed. We included the data from 248 patients and identified the 14 gene clusters across the datasets. We revealed that one cluster related to the translation regulating process and DNA damage response was specifically upregulated in BK polyomavirus-associated nephropathy. There was a significant association between the expression value of hub genes of the identified cluster including those related to cGAS-STING pathway and DNA damage response, and the prognosis of renal cell carcinoma. The study suggested the potential link between kidney transplantation-related diseases, especially specific transcriptomic signature of BK polyomavirus associated nephropathy and renal cell carcinoma. [ABSTRACT FROM AUTHOR]

Published
2023
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223. BRCA2 reversion mutation confers resistance to olaparib in breast cancer.

Author

Yamamoto, Shinya, Kawashima, Kei, Fujiwara, Yoshie, Adachi, Shoko, Narui, Kazutaka, Hosaka, Chiaki, Takahashi, Rina, Tsuyuki, Sho, Sugimori, Makoto, Tanoshima, Miki, Sasamoto, Mahato, Oshi, Masanori, Yamada, Akimitsu, Kunisaki, Chikara, and Endo, Itaru

Subjects
*BRCA genes, *OLAPARIB, *BREAST cancer, *MISSENSE mutation, *GENETIC mutation
Abstract

Key Clinical Message: A rare missense mutation was identified as a reversion mutation using cancer genomic profiling and a suspected mechanism underlying resistance to olaparib in breast cancer. A 34‐year‐old woman with breast cancer and BRCA2: p.Gln3047Ter was treated with olaparib. After tumor progression, cancer genomic profiling testing using liquid biopsy revealed BRCA2 p.Gln3047Ter and p.Gln3047Tyr, with 48.9% and 0.37% allele frequency, respectively. These findings shed light on reversion mutation as a mechanism of resistance to olaparib in breast cancer. [ABSTRACT FROM AUTHOR]

Published
2023
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225. UbiREAL: Realistic Smartspace Simulator for Systematic Testing

Author

Nishikawa, Hiroshi, Yamamoto, Shinya, Tamai, Morihiko, Nishigaki, Kouji, Kitani, Tomoya, Shibata, Naoki, Yasumoto, Keiichi, Ito, Minoru, Hutchison, David, editor, Kanade, Takeo, editor, Kittler, Josef, editor, Kleinberg, Jon M., editor, Mattern, Friedemann, editor, Mitchell, John C., editor, Naor, Moni, editor, Nierstrasz, Oscar, editor, Pandu Rangan, C., editor, Steffen, Bernhard, editor, Sudan, Madhu, editor, Terzopoulos, Demetri, editor, Tygar, Dough, editor, Vardi, Moshe Y., editor, Weikum, Gerhard, editor, Dourish, Paul, editor, and Friday, Adrian, editor

Published
2006
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229. A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder

Author

Shankar, Suma P., primary, Grimsrud, Kristin, additional, Lanoue, Louise, additional, Egense, Alena, additional, Willis, Brandon, additional, Hörberg, Johanna, additional, AlAbdi, Lama, additional, Mayer, Klaus, additional, Ütkür, Koray, additional, Monaghan, Kristin G., additional, Krier, Joel, additional, Stoler, Joan, additional, Alnemer, Maha, additional, Shankar, Prabhu R., additional, Schaffrath, Raffael, additional, Alkuraya, Fowzan S., additional, Brinkmann, Ulrich, additional, Eriksson, Leif A., additional, Lloyd, Kent, additional, Rauen, Katherine A., additional, Acosta, Maria T., additional, Adam, Margaret, additional, Adams, David R., additional, Alvey, Justin, additional, Amendola, Laura, additional, Andrews, Ashley, additional, Ashley, Euan A., additional, Azamian, Mahshid S., additional, Bacino, Carlos A., additional, Bademci, Guney, additional, Balasubramanyam, Ashok, additional, Baldridge, Dustin, additional, Bale, Jim, additional, Bamshad, Michael, additional, Barbouth, Deborah, additional, Bayrak-Toydemir, Pinar, additional, Beck, Anita, additional, Beggs, Alan H., additional, Behrens, Edward, additional, Bejerano, Gill, additional, Bennet, Jimmy, additional, Berg-Rood, Beverly, additional, Bernstein, Jonathan A., additional, Berry, Gerard T., additional, Bican, Anna, additional, Bivona, Stephanie, additional, Blue, Elizabeth, additional, Bohnsack, John, additional, Bonner, Devon, additional, Botto, Lorenzo, additional, Boyd, Brenna, additional, Briere, Lauren C., additional, Brokamp, Elly, additional, Brown, Gabrielle, additional, Burke, Elizabeth A., additional, Burrage, Lindsay C., additional, Butte, Manish J., additional, Byers, Peter, additional, Byrd, William E., additional, Carey, John, additional, Carrasquillo, Olveen, additional, Cassini, Thomas, additional, Peter Chang, Ta Chen, additional, Chanprasert, Sirisak, additional, Chao, Hsiao-Tuan, additional, Clark, Gary D., additional, Coakley, Terra R., additional, Cobban, Laurel A., additional, Cogan, Joy D., additional, Coggins, Matthew, additional, Cole, F. Sessions, additional, Colley, Heather A., additional, Cooper, Cynthia M., additional, Cope, Heidi, additional, Craigen, William J., additional, Crouse, Andrew B., additional, Cunningham, Michael, additional, D'Souza, Precilla, additional, Dai, Hongzheng, additional, Dasari, Surendra, additional, Davis, Joie, additional, Dayal, Jyoti G., additional, Deardorff, Matthew, additional, Dell'Angelica, Esteban C., additional, Dipple, Katrina, additional, Doherty, Daniel, additional, Dorrani, Naghmeh, additional, Doss, Argenia L., additional, Douine, Emilie D., additional, Duncan, Laura, additional, Earl, Dawn, additional, Eckstein, David J., additional, Emrick, Lisa T., additional, Eng, Christine M., additional, Esteves, Cecilia, additional, Falk, Marni, additional, Fernandez, Liliana, additional, Fieg, Elizabeth L., additional, Fisher, Paul G., additional, Fogel, Brent L., additional, Forghani, Irman, additional, Gahl, William A., additional, Glass, Ian, additional, Gochuico, Bernadette, additional, Godfrey, Rena A., additional, Golden-Grant, Katie, additional, Goldrich, Madison P., additional, Grajewski, Alana, additional, Gutierrez, Irma, additional, Hadley, Don, additional, Hahn, Sihoun, additional, Hamid, Rizwan, additional, Hassey, Kelly, additional, Hayes, Nichole, additional, High, Frances, additional, Hing, Anne, additional, Hisama, Fuki M., additional, Holm, Ingrid A., additional, Hom, Jason, additional, Horike-Pyne, Martha, additional, Huang, Alden, additional, Huang, Yong, additional, Introne, Wendy, additional, Isasi, Rosario, additional, Izumi, Kosuke, additional, Jamal, Fariha, additional, Jarvik, Gail P., additional, Jarvik, Jeffrey, additional, Jayadev, Suman, additional, Jean-Marie, Orpa, additional, Jobanputra, Vaidehi, additional, Karaviti, Lefkothea, additional, Kennedy, Jennifer, additional, Ketkar, Shamika, additional, Kiley, Dana, additional, Kilich, Gonench, additional, Kobren, Shilpa N., additional, Kohane, Isaac S., additional, Kohler, Jennefer N., additional, Krakow, Deborah, additional, Krasnewich, Donna M., additional, Kravets, Elijah, additional, Korrick, Susan, additional, Koziura, Mary, additional, Lalani, Seema R., additional, Lam, Byron, additional, Lam, Christina, additional, LaMoure, Grace L., additional, Lanpher, Brendan C., additional, Lanza, Ian R., additional, LeBlanc, Kimberly, additional, Lee, Brendan H., additional, Levitt, Roy, additional, Lewis, Richard A., additional, Liu, Pengfei, additional, Liu, Xue Zhong, additional, Longo, Nicola, additional, Loo, Sandra K., additional, Loscalzo, Joseph, additional, Maas, Richard L., additional, Macnamara, Ellen F., additional, MacRae, Calum A., additional, Maduro, Valerie V., additional, Mak, Bryan C., additional, Malicdan, May Christine V., additional, Mamounas, Laura A., additional, Manolio, Teri A., additional, Mao, Rong, additional, Maravilla, Kenneth, additional, Marom, Ronit, additional, Marth, Gabor, additional, Martin, Beth A., additional, Martin, Martin G., additional, Martínez-Agosto, Julian A., additional, Marwaha, Shruti, additional, McCauley, Jacob, additional, McConkie-Rosell, Allyn, additional, McCray, Alexa T., additional, McGee, Elisabeth, additional, Mefford, Heather, additional, Merritt, J. Lawrence, additional, Might, Matthew, additional, Mirzaa, Ghayda, additional, Morava, Eva, additional, Moretti, Paolo M., additional, Nakano-Okuno, Mariko, additional, Nelson, Stan F., additional, Newman, John H., additional, Nicholas, Sarah K., additional, Nickerson, Deborah, additional, Nieves-Rodriguez, Shirley, additional, Novacic, Donna, additional, Oglesbee, Devin, additional, Orengo, James P., additional, Pace, Laura, additional, Pak, Stephen, additional, Pallais, J. Carl, additional, Palmer, Christina G.S., additional, Papp, Jeanette C., additional, Parker, Neil H., additional, Phillips, John A., additional, Posey, Jennifer E., additional, Potocki, Lorraine, additional, Pusey, Barbara N., additional, Quinlan, Aaron, additional, Raskind, Wendy, additional, Raja, Archana N., additional, Rao, Deepak A., additional, Raper, Anna, additional, Renteria, Genecee, additional, Reuter, Chloe M., additional, Rives, Lynette, additional, Robertson, Amy K., additional, Rodan, Lance H., additional, Rosenfeld, Jill A., additional, Rosenwasser, Natalie, additional, Rossignol, Francis, additional, Ruzhnikov, Maura, additional, Sacco, Ralph, additional, Sampson, Jacinda B., additional, Saporta, Mario, additional, Scott, C. Ron, additional, Schaechter, Judy, additional, Schedl, Timothy, additional, Schoch, Kelly, additional, Scott, Daryl A., additional, Shashi, Vandana, additional, Shin, Jimann, additional, Silverman, Edwin K., additional, Sinsheimer, Janet S., additional, Sisco, Kathy, additional, Smith, Edward C., additional, Smith, Kevin S., additional, Solem, Emily, additional, Solnica-Krezel, Lilianna, additional, Solomon, Ben, additional, Spillmann, Rebecca C., additional, Stoler, Joan M., additional, Sullivan, Jennifer A., additional, Sullivan, Kathleen, additional, Sun, Angela, additional, Sutton, Shirley, additional, Sweetser, David A., additional, Sybert, Virginia, additional, Tabor, Holly K., additional, Tan, Amelia L.M., additional, Queenie, K.-G., additional, Tekin, Tan, Mustafa, additional, Telischi, Fred, additional, Thorson, Willa, additional, Tifft, Cynthia J., additional, Toro, Camilo, additional, Tran, Alyssa A., additional, Tucker, Brianna M., additional, Urv, Tiina K., additional, Vanderver, Adeline, additional, Velinder, Matt, additional, Viskochil, Dave, additional, Vogel, Tiphanie P., additional, Wahl, Colleen E., additional, Wallace, Stephanie, additional, Walley, Nicole M., additional, Walker, Melissa, additional, Wambach, Jennifer, additional, Wan, Jijun, additional, Wang, Lee-kai, additional, Wangler, Michael F., additional, Ward, Patricia A., additional, Wegner, Daniel, additional, Weisz-Hubshman, Monika, additional, Wener, Mark, additional, Wenger, Tara, additional, Perry, Katherine Wesseling, additional, Westerfield, Monte, additional, Wheeler, Matthew T., additional, Whitlock, Jordan, additional, Wolfe, Lynne A., additional, Worley, Kim, additional, Xiao, Changrui, additional, Yamamoto, Shinya, additional, Yang, John, additional, Zastrow, Diane B., additional, Zhang, Zhe, additional, Zhao, Chunli, additional, Zuchner, Stephan, additional, Bellen, Hugo, additional, and Mahoney, Rachel, additional

Published
2022
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232. Improving Accuracy, Reliability, and Efficiency of the RENAL Nephrometry Score With 3D Reconstructed Virtual Imaging

Author

Yoshitomi, Kasumi Kaneko, primary, Komai, Yoshinobu, additional, Yamamoto, Tatsuya, additional, Fukagawa, Eri, additional, Hamada, Kosuke, additional, Yoneoka, Yusuke, additional, Fujiwara, Motohiro, additional, Fujiwara, Ryo, additional, Oguchi, Tomohiko, additional, Numao, Noboru, additional, Yuasa, Takeshi, additional, Yamamoto, Shinya, additional, Fukui, Iwao, additional, and Yonese, Junji, additional

Published
2022
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235. WGA 13: History and Culture in mathematics Education

Author

van Maanen, Jan, Horng, Wann Sheng, Nagaoka, Ryosuke, Fauvel, John, Yamamoto, Shinya, Niss, Mogen, Fujita, Hiroshi, editor, Hashimoto, Yoshihiko, editor, Hodgson, Bernard R., editor, Lee, Peng Yee, editor, Lerman, Stephen, editor, and Sawada, Toshio, editor

Published
2004
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237. Dominant missense variants in SREBF2are associated with complex dermatological, neurological, and skeletal abnormalities

Author

Moulton, Matthew J., Atala, Kristhen, Zheng, Yiming, Dutta, Debdeep, Grange, Dorothy K., Lin, Wen-Wen, Wegner, Daniel J., Wambach, Jennifer A., Duker, Angela L., Bober, Michael B., Kratz, Lisa, Wise, Carol A., Oxendine, Ila, Khanshour, Anas, Bacino, Carlos A., Balasubramanyam, Ashok, Burrage, Lindsay C., Chao, Hsiao-Tuan, Chinn, Ivan, Clark, Gary D., Craigen, William J., Dai, Hongzheng, Emrick, Lisa T., Ketkar, Shamika, Lalani, Seema R., Lee, Brendan H., Lewis, Richard A., Marom, Ronit, Orengo, James P., Posey, Jennifer E., Potocki, Lorraine, Rosenfeld, Jill A., Seto, Elaine, Scott, Daryl A., Tarakad, Arjun, Tran, Alyssa A., Vogel, Tiphanie P., Hubshman, Monika Weisz, Worley, Kim, Bellen, Hugo J., Wangler, Michael F., Yamamoto, Shinya, Kanca, Oguz, Eng, Christine M., Liu, Pengfei, Ward, Patricia A., Behrens, Edward, Falk, Marni, Hassey, Kelly, Izumi, Kosuke, Kilich, Gonench, Sullivan, Kathleen, Vanderver, Adeline, Zhang, Zhe, Raper, Anna, Jobanputra, Vaidehi, Mikati, Mohamad, McConkie-Rosell, Allyn, Schoch, Kelly, Shashi, Vandana, Spillmann, Rebecca C., Tan, Queenie K.-G., Walley, Nicole M., Beggs, Alan H., Berry, Gerard T., Briere, Lauren C., Cobban, Laurel A., Coggins, Matthew, Fieg, Elizabeth L., High, Frances, Holm, Ingrid A., Korrick, Susan, Loscalzo, Joseph, Maas, Richard L., MacRae, Calum A., Pallais, J. Carl, Rao, Deepak A., Rodan, Lance H., Silverman, Edwin K., Stoler, Joan M., Sweetser, David A., Walker, Melissa, Douglas, Jessica, Glanton, Emily, Kobren, Shilpa N., Kohane, Isaac S., LeBlanc, Kimberly, Maghiro, Audrey Stephannie C., Mahoney, Rachel, McCray, Alexa T., Tan, Amelia L.M., Dasari, Surendra, Lanpher, Brendan C., Lanza, Ian R., Morava, Eva, Oglesbee, Devin, Bademci, Guney, Barbouth, Deborah, Bivona, Stephanie, Borja, Nicholas, Gonzalez, Joanna M., Latchman, Kumarie, Peart, LéShon, Rebelo, Adriana, Smith, Carson A., Tekin, Mustafa, Thorson, Willa, Zuchner, Stephan, Taylor, Herman, Colley, Heather A., Dayal, Jyoti G., Doss, Argenia L., Eckstein, David J., Hutchison, Sarah, Krasnewich, Donna M., Mamounas, Laura A., Manolio, Teri A., Urv, Tiina K., Acosta, Maria T., D'Souza, Precilla, Gropman, Andrea, Macnamara, Ellen F., Maduro, Valerie V., Mulvihill, John J., Novacic, Donna, Pusey Swerdzewski, Barbara N., Toro, Camilo, Wahl, Colleen E., Adams, David R., Afzali, Ben, Burke, Elizabeth A., Davis, Joie, Delgado, Margaret, Fu, Jiayu, Gahl, William A., Hanchard, Neil, Huang, Yan, Introne, Wendy, Jean-Marie, Orpa, Malicdan, May Christine V., Morimoto, Marie, Petcharet, Leoyklang, Rossignol, Francis, Sabaii, Marla, Solomon, Ben, Tifft, Cynthia J., Wolfe, Lynne A., Wood, Heidi, Allworth, Aimee, Bamshad, Michael, Beck, Anita, Bennett, Jimmy, Blue, Elizabeth, Byers, Peter, Chanprasert, Sirisak, Cunningham, Michael, Dipple, Katrina, Doherty, Daniel, Earl, Dawn, Glass, Ian, Hing, Anne, Hisama, Fuki M., Horike-Pyne, Martha, Jarvik, Gail P., Jarvik, Jeffrey, Jayadev, Suman, Kaitryn, Emerald, Lam, Christina, Miller, Danny, Mirzaa, Ghayda, Raskind, Wendy, Rosenthal, Elizabeth, Shelkowitz, Emily, Sheppeard, Sam, Stergachis, Andrew, Sybert, Virginia, Wener, Mark, Wenger, Tara, Alvarez, Raquel L., Bejerano, Gill, Bernstein, Jonathan A., Bonner, Devon, Coakley, Terra R., Fisher, Paul G., Goddard, Page C., Halley, Meghan C., Hom, Jason, Kohler, Jennefer N., Kravets, Elijah, Martin, Beth A., Marwaha, Shruti, Reuter, Chloe M., Ruzhnikov, Maura, Sampson, Jacinda B., Smith, Kevin S., Sutton, Shirley, Tabor, Holly K., Ungar, Rachel A., Wheeler, Matthew T., Ashley, Euan A., Byrd, William E., Crouse, Andrew B., Might, Matthew, Nakano-Okuno, Mariko, Whitlock, Jordan, Butte, Manish J., Corona, Rosario, Dell'Angelica, Esteban C., Dorrani, Naghmeh, Douine, Emilie D., Fogel, Brent L., Huang, Alden, Krakow, Deborah, Loo, Sandra K., Martin, Martin G., Martínez-Agosto, Julian A., McGee, Elisabeth, Nelson, Stanley F., Nieves-Rodriguez, Shirley, Papp, Jeanette C., Parker, Neil H., Renteria, Genecee, Sinsheimer, Janet S., Wan, Jijun, Alvey, Justin, Andrews, Ashley, Bale, Jim, Bohnsack, John, Botto, Lorenzo, Carey, John, Longo, Nicola, Moretti, Paolo, Pace, Laura, Quinlan, Aaron, Velinder, Matt, Viskochil, Dave, Marth, Gabor, Bayrak-Toydemir, Pinar, Mao, Rong, Westerfield, Monte, Bican, Anna, Cassini, Thomas, Corner, Brian, Hamid, Rizwan, Neumann, Serena, Phillips, John A., Rives, Lynette, Robertson, Amy K., Ezell, Kimberly, Cogan, Joy D., Hayes, Nichole, Kiley, Dana, Sisco, Kathy, Wambach, Jennifer, Wegner, Daniel, Baldridge, Dustin, Cole, F. Sessions, Pak, Stephen, Schedl, Timothy, Shin, Jimann, Solnica-Krezel, Lilianna, Wangler, Michael F., Yamamoto, Shinya, Cole, F. Sessions, Rios, Jonathan, and Bellen, Hugo J.

Abstract

We identified 2 individuals with de novo variants in SREBF2that disrupt a conserved site 1 protease (S1P) cleavage motif required for processing SREBP2 into its mature transcription factor. These individuals exhibit complex phenotypic manifestations that partially overlap with sterol regulatory element binding proteins (SREBP) pathway-related disease phenotypes, but SREBF2-related disease has not been previously reported. Thus, we set out to assess the effects of SREBF2variants on SREBP pathway activation.

Published
2024
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238. ModelMatcher: A scientist‐centric online platform to facilitate collaborations between stakeholders of rare and undiagnosed disease research

Author

Harnish, J. Michael, Li, Lucian, Rogic, Sanja, Poirier-Morency, Guillaume, Kim, Seon-Young, Boycott, Kym M., Wangler, Michael F., Bellen, Hugo J., Hieter, Philip, Pavlidis, Paul, Liu, Zhandong, and Yamamoto, Shinya

Subjects
Rare Diseases, Databases, Factual, Genetics, Humans, Registries, Undiagnosed Diseases, Article, Research Personnel, Genetics (clinical)
Abstract

Next-generation sequencing is a prevalent diagnostic tool for undiagnosed diseases and has played a significant role in rare disease gene discovery. Although this technology resolves some cases, others are given a list of possibly damaging genetic variants necessitating functional studies. Productive collaborations between scientists, clinicians, and patients (affected individuals) can help resolve such medical mysteries and provide insights into in vivo function of human genes. Furthermore, facilitating interactions between scientists and research funders, including nonprofit organizations or commercial entities, can dramatically reduce the time to translate discoveries from bench to bedside. Several systems designed to connect clinicians and researchers with a shared gene of interest have been successful. However, these platforms exclude some stakeholders based on their role or geography. Here we describe ModelMatcher, a global online matchmaking tool designed to facilitate cross-disciplinary collaborations, especially between scientists and other stakeholders of rare and undiagnosed disease research. ModelMatcher is integrated into the Rare Diseases Models and Mechanisms Network and Matchmaker Exchange, allowing users to identify potential collaborators in other registries. This living database decreases the time from when a scientist or clinician is making discoveries regarding their genes of interest, to when they identify collaborators and sponsors to facilitate translational and therapeutic research.

Published
2022

239. Fly Cell Atlas: A single-nucleus transcriptomic atlas of the adult fruit fly

Author

Li, Hongjie, Janssens, Jasper, De Waegeneer, Maxime, Kolluru, Sai Saroja, Davie, Kristofer, Gardeux, Vincent, Saelens, Wouter, David, Fabrice P. A., Brbić, Maria, Spanier, Katina, Leskovec, Jure, McLaughlin, Colleen N., Xie, Qijing, Jones, Robert C., Brueckner, Katja, Shim, Jiwon, Tattikota, Sudhir Gopal, Schnorrer, Frank, Rust, Katja, Nystul, Todd G., Carvalho-Santos, Zita, Ribeiro, Carlos, Pal, Soumitra, Mahadevaraju, Sharvani, Przytycka, Teresa M., Allen, Aaron M., Goodwin, Stephen F., Berry, Cameron W., Fuller, Margaret T., White-Cooper, Helen, Matunis, Erika L., DiNardo, Stephen, Galenza, Anthony, O’Brien, Lucy Erin, Dow, Julian A. T., Jasper, Heinrich, Oliver, Brian, Perrimon, Norbert, Deplancke, Bart, Quake, Stephen R., Luo, Liqun, Aerts, Stein, Agarwal, Devika, Ahmed-Braimah, Yasir, Arbeitman, Michelle, Ariss, Majd M., Augsburger, Jordan, Ayush, Kumar, Baker, Catherine C., Banisch, Torsten, Birker, Katja, Bodmer, Rolf, Bolival, Benjamin, Brantley, Susanna E., Brill, Julie A., Brown, Nora C., Buehner, Norene A., Cai, Xiaoyu Tracy, Cardoso-Figueiredo, Rita, Casares, Fernando, Chang, Amy, Clandinin, Thomas R., Crasta, Sheela, Desplan, Claude, Detweiler, Angela M., Dhakan, Darshan B., Donà, Erika, Engert, Stefanie, Floc’hlay, Swann, George, Nancy, González-Segarra, Amanda J., Groves, Andrew K., Gumbin, Samantha, Guo, Yanmeng, Harris, Devon E., Heifetz, Yael, Holtz, Stephen L., Horns, Felix, Hudry, Bruno, Hung, Ruei-Jiun, Jan, Yuh Nung, Jaszczak, Jacob S., Jefferis, Gregory S. X. E., Karkanias, Jim, Karr, Timothy L., Katheder, Nadja Sandra, Kezos, James, Kim, Anna A., Kim, Seung K., Kockel, Lutz, Konstantinides, Nikolaos, Kornberg, Thomas B., Krause, Henry M., Labott, Andrew Thomas, Laturney, Meghan, Lehmann, Ruth, Leinwand, Sarah, Li, Jiefu, Li, Joshua Shing Shun, Li, Kai, Li, Ke, Li, Liying, Li, Tun, Litovchenko, Maria, Liu, Han-Hsuan, Liu, Yifang, Lu, Tzu-Chiao, Manning, Jonathan, Mase, Anjeli, Matera-Vatnick, Mikaela, Matias, Neuza Reis, McDonough-Goldstein, Caitlin E., McGeever, Aaron, McLachlan, Alex D., Moreno-Roman, Paola, Neff, Norma, Neville, Megan, Ngo, Sang, Nielsen, Tanja, O’Brien, Caitlin E., Osumi-Sutherland, David, Özel, Mehmet Neset, Papatheodorou, Irene, Petkovic, Maja, Pilgrim, Clare, Pisco, Angela Oliveira, Reisenman, Carolina, Sanders, Erin Nicole, dos Santos, Gilberto, Scott, Kristin, Sherlekar, Aparna, Shiu, Philip, Sims, David, Sit, Rene V., Slaidina, Maija, Smith, Harold E., Sterne, Gabriella, Su, Yu-Han, Sutton, Daniel, Tamayo, Marco, Tan, Michelle, Tastekin, Ibrahim, Treiber, Christoph, Vacek, David, Vogler, Georg, Waddell, Scott, Wang, Wanpeng, Wilson, Rachel I., Wolfner, Mariana F., Wong, Yiu-Cheung E., Xie, Anthony, Xu, Jun, Yamamoto, Shinya, Yan, Jia, Yao, Zepeng, Yoda, Kazuki, Zhu, Ruijun, Zinzen, Robert P., Howard Hughes Medical Institute, Department of Biology, Stanford University, Stanford, CA 94305, USA, Institut de Biologie du Développement de Marseille (IBDM), Aix Marseille Université (AMU)-Collège de France (CdF (institution))-Centre National de la Recherche Scientifique (CNRS), National Institutes of Health (US), Stanford University, Howard Hughes Medical Institute, KU Leuven, Flemish Department of Economy, Science and Innovation (Belgium), and Consortium, FCA

Subjects
Cell Nucleus, Male, Sex Characteristics, Multidisciplinary, [SDV.BA]Life Sciences [q-bio]/Animal biology, fungi, Genes, Insect, Article, Drosophila melanogaster, Gene Expression Regulation, Databases, Genetic, Animals, Drosophila Proteins, Female, Gene Regulatory Networks, RNA-Seq, Single-Cell Analysis, Transcriptome, Transcription Factors
Abstract

FCA Consortium: Stein Aerts, Devika Agarwal, Yasir Ahmed-Braimah, Aaron M. Allen, Michelle Arbeitman, Majd M. Ariss, Jordan Augsburger, Kumar Ayush, Catherine C. Baker, Torsten Banisch, Cameron W. Berry, Katja Birker, Rolf Bodmer, Benjamin Bolival, Susanna E. Brantley, Maria Brbić, Julie A. Brill, Nora C. Brown, Katja Brueckner, Norene A. Buehner, Xiaoyu Tracy Cai, Rita Cardoso-Figueiredo, Zita Carvalho-Santos, Casares,Fernando, Amy Chang, Thomas R. Clandinin, Sheela Crasta, Fabrice P. A. David, Kristofer Davie4, Bart Deplancke, Claude Desplan44, Angela M. Detweiler, Darshan B. Dhakan, Stephen DiNardo, Erika Donà, Julian A. T. Dow, Stefanie Engert, Swann Floc’hlay, Margaret T. Fuller, Anthony Galenza, Vincent Gardeux, Nancy George, Amanda J. González-Segarra, Stephen F. Goodwin, Andrew K. Groves, Samantha Gumbin Yanmeng Guo, Devon E. Harris, Yael Heifetz, Stephen L. Holtz, Felix Horns, Bruno Hudry, Ruei-Jiun Hung, Yuh Nung Jan, Jasper Janssens, Heinrich Jasper, Jacob S. Jaszczak, Gregory S. X. E. Jefferis, Robert C. Jones, Jim Karkanias, Timothy L. Karr, Nadja Sandra Katheder, James Kezos, Anna A. Kim, Seung K. Kim, Lutz Kockel, Sai Saroja Kolluru6,7,8, Nikolaos Konstantinides, Thomas B. Kornberg, Henry M. Krause, Andrew Thomas Labott, Meghan Laturney, Ruth Lehmann, Sarah Leinwand, Jure Leskovec, Hongjie Li1, Jiefu Li1, Joshua Shing Shun Li, Kai Li, Ke Li, Liying Li, Tun Li, Maria Litovchenko, Han-Hsuan Liu, Yifang Liu, Tzu-Chiao Lu, Liqun Luo, Sharvani Mahadevaraju, Jonathan Manning, Anjeli Mase, Mikaela Matera-Vatnick, Neuza Reis Matias, Erika L. Matunis, Caitlin E. McDonough-Goldstein, Aaron McGeever, Alex D. McLachlan, Colleen N. McLaughlin, Paola Moreno-Roman, Norma Neff, Megan Neville, Sang Ngo, Tanja Nielsen, Todd G. Nystul, Caitlin E. O’Brien, Lucy Erin O’Brien, Brian Oliver, David Osumi-Sutherland, Mehmet Neset Özel, Soumitra Pal, Irene Papatheodorou, Norbert Perrimon, Maja Petkovic, Clare Pilgrim68, Angela Oliveira Pisco, Teresa M. Przytycka, Stephen R. Quake, Carolina Reisenman, Carlos Ribeiro, Katja Rust, Wouter Saelens, Erin Nicole Sanders, Gilberto dos Santos, Frank Schnorrer, Kristin Scott, Aparna Sherlekar, Jiwon Shim, Philip Shiu, David Sims, Rene V. Sit, Maija Slaidina, Harold E. Smith, Katina Spanier, Gabriella Sterne, Yu-Han Su, Daniel Sutton, Marco Tamayo, Michelle Tan, Ibrahim Tastekin, Sudhir Gopal Tattikota, Christoph Treiber, David Vacek, Georg Vogler, Scott Waddell, Maxime De Waegeneer, Wanpeng Wang, Helen White-Cooper, Rachel I. Wilson, Mariana F. Wolfner, Yiu-Cheung E. Wong, Anthony Xie, Qijing Xie, Jun Xu, Shinya Yamamoto, Jia Yan, Zepeng Yao, Kazuki Yodaformat , Ruijun Zhu, Robert P. Zinzen, For more than 100 years, the fruit fly Drosophila melanogaster has been one of the most studied model organisms. Here, we present a single-cell atlas of the adult fly, Tabula Drosophilae, that includes 580,000 nuclei from 15 individually dissected sexed tissues as well as the entire head and body, annotated to >250 distinct cell types. We provide an in-depth analysis of cell type–related gene signatures and transcription factor markers, as well as sexual dimorphism, across the whole animal. Analysis of common cell types between tissues, such as blood and muscle cells, reveals rare cell types and tissue-specific subtypes. This atlas provides a valuable resource for the Drosophila community and serves as a reference to study genetic perturbations and disease models at single-cell resolution., The sequencing was supported by the Chan Zuckerberg Biohub (S.R.Q.), Genentech Inc. (H.J.), National Institutes of Health intramural 1ZIADK015600 (B.O.), national funds through the FCT in the framework of the financing of the Norma Transitória DL 57/2016 (Z.C.-S.), Wu Tsai Neurosciences Institute at Stanford (S.R.Q. and L.L.), and the Howard Hughes Medical Institute and a National Institutes of Health grant (L.L.). Computational work was supported by the KU Leuven and the Flemish Supercomputer Center (VSC) (S.A.) and EPFL (B.D.). FCA Consortium funding is provided in the supplementary materials.

Published
2022

240. The Process of Adapting a German Pedagogy for Modern Mathematics Teaching in Japan

Author

Yamamoto, Shinya

Abstract

Modern geometry teaching in schools in Japan was modeled on the pedagogies of western countries. However, the core ideas of these pedagogies were often radically changed in the process of adaptation, resulting in teaching differing fundamentally from the original models. This paper discusses the radical changes the pedagogy of a German mathematics educator, P. Treutlein (1845-1912), underwent when adopted by a Japanese mathematics teacher, T. Kunimoto (1895-1985), during the modernization of geometry teaching in the 1930s in Japan.

Published
2006
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242. 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

243. Renal function outcome after selective bladder-preserving tetramodality therapy consisting of maximal transurethral resection, induction chemoradiotherapy and consolidative partial cystectomy in comparison with radical cystectomy for patients with muscle-invasive bladder cancer: a two-centre retrospective study

Author

Fujiwara, Motohiro, Yokoyama, Minato, Toide, Masahiro, Fujiwara, Ryo, Tanaka, Hajime, Oguchi, Tomohiko, Komai, Yoshinobu, Yoshida, Soichiro, Matsuoka, Yoh, Numao, Noboru, Yamamoto, Shinya, Fukui, Iwao, Yonese, Junji, and Fujii, Yasuhisa

Published
2023
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244. Geriatric Nutritional Risk Index as a Predictor of Prognosis in Metastatic Renal Cell Carcinoma Treated with Nivolumab.

Author

Fujiwara, Ryo, Yuasa, Takeshi, Yamamoto, Shinya, Fujiwara, Motohiro, Takemura, Kosuke, Urasaki, Tetsuya, Oki, Ryosuke, Komai, Yoshinobu, Oguchi, Tomohiko, Numao, Noboru, and Yonese, Junji

Subjects
RENAL cell carcinoma, NUTRITIONAL assessment, RESEARCH methodology evaluation, RESEARCH methodology, METASTASIS, RETROSPECTIVE studies, GERIATRIC nutrition, NIVOLUMAB, RESEARCH funding, DESCRIPTIVE statistics, KARNOFSKY Performance Status, PREDICTIVE validity, OVERALL survival, EVALUATION
Abstract

The Geriatric Nutritional Risk Index (GNRI) has been reported as a screening tool to assess the nutrition-related risk with mortality in older patients and those with the various diseases. However, the prognostic value of GNRI in metastatic renal cell carcinoma (mRCC) patients receiving nivolumab therapy remains unclear. Fifty-six consecutive patients with mRCC receiving nivolumab between September 2013 and August 2020 at our institution were retrospectively analyzed. The survival outcomes and prognostic factors associated with overall survival (OS) were statistically analyzed. Thirteen and forty-three patients were classified with low (GNRI < 92) and high (GNRI ≥ 92) GNRI, respectively. Patients with low GNRI demonstrated significantly shorter OS (P = 0.0002) than those with high GNRI. In multivariate analysis, GNRI at the time of nivolumab (P = 0.008) was extracted as the predictor for OS in addition to Karnofsky performance status (KPS) (P = 0.016). Integration of the GNRI into the International Metastatic Renal Cell Cancer Database Consortium (IMDC) risk classification improved the c-index from 0.761 to 0.833 (combination of GNRI with IMDC risk classification) and to 0.778 (substitution of GNRI with KPS in IMDC risk classification). GNRI was a significant prognostic biomarker in mRCC patients receiving nivolumab. [ABSTRACT FROM AUTHOR]

Published
2023
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248. Immunological Correlates of Prevention of the Onset of Seasonal H3N2 Influenza

Author

Okuda, Moe, primary, Sakai-Tagawa, Yuko, additional, Koga, Michiko, additional, Koibuchi, Tomohiko, additional, Kikuchi, Tadashi, additional, Adachi, Eisuke, additional, Ahyoung Lim, Lay, additional, Yamamoto, Shinya, additional, Yotsuyanagi, Hiroshi, additional, Negishi, Kyota, additional, Jubishi, Daisuke, additional, Yamayoshi, Seiya, additional, and Kawaoka, Yoshihiro, additional

Published
2022
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