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811 results on '"Evans, Todd"'

1. SPRY4-dependent ERK negative feedback demarcates functional adult stem cells in the male mouse germline†.

Author

Luo, Yanyun, Yamada, Makiko, NTumba-Byn, Thierry, Asif, Hana, Gao, Meng, Hu, Yang, Marangoni, Pauline, Liu, Ying, Evans, Todd, Rafii, Shahin, Klein, Ophir, Voss, Henning, Hadjantonakis, Anna-Katerina, Elemento, Olivier, Martin, Laura, and Seandel, Marco

Subjects
ERK MAPK signaling, growth factor signaling, negative feedback, spermatogonia, spermatogonial stem cells, Male, Mice, Animals, Extracellular Signal-Regulated MAP Kinases, Feedback, Cell Differentiation, Spermatogonia, Adult Stem Cells, Intercellular Signaling Peptides and Proteins, Mammals
Abstract

Niche-derived growth factors support self-renewal of mouse spermatogonial stem and progenitor cells through ERK MAPK signaling and other pathways. At the same time, dysregulated growth factor-dependent signaling has been associated with loss of stem cell activity and aberrant differentiation. We hypothesized that growth factor signaling through the ERK MAPK pathway in spermatogonial stem cells is tightly regulated within a narrow range through distinct intracellular negative feedback regulators. Evaluation of candidate extracellular signal-regulated kinase (ERK) mitogen-activated protein kinase (MAPK)-responsive genes known to dampen downstream signaling revealed robust induction of specific negative feedback regulators, including Spry4, in cultured mouse spermatogonial stem cells in response to glial cell line-derived neurotrophic factor or fibroblast growth factor 2. Undifferentiated spermatogonia in vivo exhibited high levels of Spry4 mRNA. Quantitative single-cell analysis of ERK MAPK signaling in spermatogonial stem cell cultures revealed both dynamic signaling patterns in response to growth factors and disruption of such effects when Spry4 was ablated, due to dysregulation of ERK MAPK downstream of RAS. Whereas negative feedback regulator expression decreased during differentiation, loss of Spry4 shifted cell fate toward early differentiation with concomitant loss of stem cell activity. Finally, a mouse Spry4 reporter line revealed that the adult spermatogonial stem cell population in vivo is demarcated by strong Spry4 promoter activity. Collectively, our data suggest that negative feedback-dependent regulation of ERK MAPK is critical for preservation of spermatogonial stem cell fate within the mammalian testis.

Published
2023

2. Author Correction: Identification of SARS-CoV-2 inhibitors using lung and colonic organoids

Author

Han, Yuling, Duan, Xiaohua, Yang, Liuliu, Nilsson-Payant, Benjamin E., Wang, Pengfei, Duan, Fuyu, Tang, Xuming, Yaron, Tomer M., Zhang, Tuo, Uhl, Skyler, Bram, Yaron, Richardson, Chanel, Zhu, Jiajun, Zhao, Zeping, Redmond, David, Houghton, Sean, Nguyen, Duc-Huy T., Xu, Dong, Wang, Xing, Jessurun, Jose, Borczuk, Alain, Huang, Yaoxing, Johnson, Jared L., Liu, Yuru, Xiang, Jenny, Wang, Hui, Cantley, Lewis C., tenOever, Benjamin R., Ho, David D., Pan, Fong Cheng, Evans, Todd, Chen, Huanhuan Joyce, Schwartz, Robert E., and Chen, Shuibing

Published
2024
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4. Constitutively Activating GNAS Somatic Mutation in Right Ventricular Outflow Tract Tachycardia.

Author

Ip, James E, Xu, Linna, Dai, Jie, Steegborn, Clemens, Jaffré, Fabrice, Evans, Todd, Cheung, Jim W, Basson, Craig T, Panaghie, Gianina, Krogh-Madsen, Trine, Abbott, Geoffrey W, and Lerman, Bruce B

Subjects
Myocardium, Heart Conduction System, Humans, Tachycardia, Ventricular, GTP-Binding Protein alpha Subunits, Gs, Chromogranins, DNA, Electrocardiography, Catheter Ablation, Biopsy, DNA Mutational Analysis, Mutation, Missense, Aged, Male, GTP-binding proteins, arrhythmia, mutation, signal transduction, tachycardia, ventricular, tachycardia, ventricular, Cardiorespiratory Medicine and Haematology, Clinical Sciences, Medical Physiology, Cardiovascular System & Hematology
Abstract

[Figure: see text].

Published
2021

8. Zika Virus Protease Cleavage of Host Protein Septin-2 Mediates Mitotic Defects in Neural Progenitors

Author

Li, Hongda, Saucedo-Cuevas, Laura, Yuan, Ling, Ross, Danica, Johansen, Anide, Sands, Daniel, Stanley, Valentina, Guemez-Gamboa, Alicia, Gregor, Anne, Evans, Todd, Chen, Shuibing, Tan, Lei, Molina, Henrik, Sheets, Nicholas, Shiryaev, Sergey A, Terskikh, Alexey V, Gladfelter, Amy S, Shresta, Sujan, Xu, Zhiheng, and Gleeson, Joseph G

Subjects
Biological Psychology, Biomedical and Clinical Sciences, Neurosciences, Psychology, Stem Cell Research, Infectious Diseases, Good Health and Well Being, Apoptosis, Cytokinesis, Cytoskeleton, HEK293 Cells, HeLa Cells, Humans, Mitosis, Neural Stem Cells, Neurogenesis, RNA Helicases, Septins, Serine Endopeptidases, Viral Nonstructural Proteins, Zika Virus, Hela Cells, Zika, activated caspase, cytokinesis, microcephaly, protease, septin, Cognitive Sciences, Neurology & Neurosurgery, Biological psychology
Abstract

Zika virus (ZIKV) targets neural progenitor cells in the brain, attenuates cell proliferation, and leads to cell death. Here, we describe a role for the ZIKV protease NS2B-NS3 heterodimer in mediating neurotoxicity through cleavage of a host protein required for neurogenesis. Similar to ZIKV infection, NS2B-NS3 expression led to cytokinesis defects and cell death in a protease activity-dependent fashion. Among binding partners, NS2B-NS3 cleaved Septin-2, a cytoskeletal factor involved in cytokinesis. Cleavage of Septin-2 occurred at residue 306 and forced expression of a non-cleavable Septin-2 restored cytokinesis, suggesting a direct mechanism of ZIKV-induced neural toxicity. VIDEO ABSTRACT.

Published
2019

9. Gata6 functions in zebrafish endoderm to regulate late differentiating arterial pole cardiogenesis.

Author

Sam, Jessica, Torregroza, Ingrid, and Evans, Todd

Subjects
CONGENITAL heart disease, CELL differentiation, HEART cells, HEART development, PERICARDIUM
Abstract

Mutations in GATA6 are associated with congenital heart disease, most notably conotruncal structural defects. However, how GATA6 regulates cardiac morphology during embryogenesis is undefined. We used knockout and conditional mutant zebrafish alleles to investigate the spatiotemporal role of gata6 during cardiogenesis. Loss of gata6 specifically impacts atrioventricular valve formation and recruitment of epicardium, with a prominent loss of arterial pole cardiac cells, including those of the ventricle and outflow tract. However, there are no obvious defects in cardiac progenitor cell specification, proliferation or death. Conditional loss of gata6 starting at 24 h is sufficient to disrupt the addition of late differentiating cardiomyocytes at the arterial pole, with decreased expression levels of anterior secondary heart field (SHF) markers spry4 and mef2cb. Conditional loss of gata6 in the endoderm is sufficient to phenocopy the straight knockout, resulting in a significant loss of ventricular and outflow tract tissue. Exposure to a Dusp6 inhibitor largely rescues the loss of ventricular cells in gata6−/− larvae. Thus, gata6 functions in endoderm are mediated by FGF signaling to regulate the addition of anterior SHF progenitor derivatives during heart formation. [ABSTRACT FROM AUTHOR]

Published
2024
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13. An efficient method for tracing high-resolution invariant manifolds of three-dimensional flows

Author

Taborda, David Ciro, Evans, Todd Edwin, and Caldas, Iberê Luiz

Subjects
Physics - Plasma Physics
Abstract

In Hamiltonian systems subjected to periodic perturbations the stable and unstable manifolds of the unstable periodic orbits provide the dynamical "skeleton" that drives the mixing process and bounds the chaotic regions of the phase space. Determining the behavior of these objects is valuable in physical applications involving asymmetric solenoidal fields or time-dependent Hamiltonian systems. Here we introduce a simple method to calculate an unstable periodic orbit given an initial guess on its position. Then we present an efficient adaptive method to build its high-resolution invariant manifolds to arbitrary length and compare it to a random sampling method with the same computational cost. The adaptive method gives a high-quality representation of the manifolds and reveals fine details that become lost in the random sampling method. Finally, we introduce an approximation to the adaptive method to build the manifolds avoiding redundant calculations and reducing logarithmically the number of computations needed to represent these surfaces.

Published
2016

15. SARS-CoV-2 infection causes dopaminergic neuron senescence

Author

Yang, Liuliu, Kim, Tae Wan, Han, Yuling, Nair, Manoj S., Harschnitz, Oliver, Zhu, Jiajun, Wang, Pengfei, Koo, So Yeon, Lacko, Lauretta A., Chandar, Vasuretha, Bram, Yaron, Zhang, Tuo, Zhang, Wei, He, Feng, Pan, Chendong, Wu, Junjie, Huang, Yaoxing, Evans, Todd, van der Valk, Paul, Titulaer, Maarten J., Spoor, Jochem K.H., Furler O'Brien, Robert L., Bugiani, Marianna, D.J. Van de Berg, Wilma, Schwartz, Robert E., Ho, David D., Studer, Lorenz, Chen, Shuibing, Yang, Liuliu, Kim, Tae Wan, Han, Yuling, Nair, Manoj S., Harschnitz, Oliver, Zhu, Jiajun, Wang, Pengfei, Koo, So Yeon, Lacko, Lauretta A., Chandar, Vasuretha, Bram, Yaron, Zhang, Tuo, Zhang, Wei, He, Feng, Pan, Chendong, Wu, Junjie, Huang, Yaoxing, Evans, Todd, van der Valk, Paul, Titulaer, Maarten J., Spoor, Jochem K.H., Furler O'Brien, Robert L., Bugiani, Marianna, D.J. Van de Berg, Wilma, Schwartz, Robert E., Ho, David D., Studer, Lorenz, and Chen, Shuibing

Abstract

COVID-19 patients commonly present with signs of central nervous system and/or peripheral nervous system dysfunction. Here, we show that midbrain dopamine (DA) neurons derived from human pluripotent stem cells (hPSCs) are selectively susceptible and permissive to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection. SARS-CoV-2 infection of DA neurons triggers an inflammatory and cellular senescence response. High-throughput screening in hPSC-derived DA neurons identified several FDA-approved drugs that can rescue the cellular senescence phenotype by preventing SARS-CoV-2 infection. We also identified the inflammatory and cellular senescence signature and low levels of SARS-CoV-2 transcripts in human substantia nigra tissue of COVID-19 patients. Furthermore, we observed reduced numbers of neuromelanin+ and tyrosine-hydroxylase (TH)+ DA neurons and fibers in a cohort of severe COVID-19 patients. Our findings demonstrate that hPSC-derived DA neurons are susceptible to SARS-CoV-2, identify candidate neuroprotective drugs for COVID-19 patients, and suggest the need for careful, long-term monitoring of neurological problems in COVID-19 patients.

Published
2024

17. SARS-CoV-2 infection causes dopaminergic neuron senescence

Author

Yang, Liuliu, primary, Kim, Tae Wan, additional, Han, Yuling, additional, Nair, Manoj S., additional, Harschnitz, Oliver, additional, Zhu, Jiajun, additional, Wang, Pengfei, additional, Koo, So Yeon, additional, Lacko, Lauretta A., additional, Chandar, Vasuretha, additional, Bram, Yaron, additional, Zhang, Tuo, additional, Zhang, Wei, additional, He, Feng, additional, Pan, Chendong, additional, Wu, Junjie, additional, Huang, Yaoxing, additional, Evans, Todd, additional, van der Valk, Paul, additional, Titulaer, Maarten J., additional, Spoor, Jochem K.H., additional, Furler O’Brien, Robert L., additional, Bugiani, Marianna, additional, D.J. Van de Berg, Wilma, additional, Schwartz, Robert E., additional, Ho, David D., additional, Studer, Lorenz, additional, and Chen, Shuibing, additional

Published
2024
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18. Identification of SARS-CoV-2 inhibitors using lung and colonic organoids

Author

Han, Yuling, Duan, Xiaohua, Yang, Liuliu, Nilsson-Payant, Benjamin E., Wang, Pengfei, Duan, Fuyu, Tang, Xuming, Yaron, Tomer M., Zhang, Tuo, Uhl, Skyler, Bram, Yaron, Richardson, Chanel, Zhu, Jiajun, Zhao, Zeping, Redmond, David, Houghton, Sean, Nguyen, Duc-Huy T., Xu, Dong, Wang, Xing, Jessurun, Jose, Borczuk, Alain, Huang, Yaoxing, Johnson, Jared L., Liu, Yuru, Xiang, Jenny, Wang, Hui, Cantley, Lewis C., tenOever, Benjamin R., Ho, David D., Pan, Fong Cheng, Evans, Todd, Chen, Huanhuan Joyce, Schwartz, Robert E., and Chen, Shuibing

Published
2021
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19. A pancreatic cancer organoid platform identifies an inhibitor specific to mutant KRAS

Author

Duan, Xiaohua, primary, Zhang, Tuo, additional, Feng, Lingling, additional, de Silva, Neranjan, additional, Greenspun, Benjamin, additional, Wang, Xing, additional, Moyer, Jenna, additional, Martin, M. Laura, additional, Chandwani, Rohit, additional, Elemento, Olivier, additional, Leach, Steven D., additional, Evans, Todd, additional, Chen, Shuibing, additional, and Pan, Fong Cheng, additional

Published
2023
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24. Genome-scale screens identify JNK–JUN signaling as a barrier for pluripotency exit and endoderm differentiation

Author

Li, Qing V., Dixon, Gary, Verma, Nipun, Rosen, Bess P., Gordillo, Miriam, Luo, Renhe, Xu, Chunlong, Wang, Qiong, Soh, Chew-Li, Yang, Dapeng, Crespo, Miguel, Shukla, Abhijit, Xiang, Qing, Dündar, Friederike, Zumbo, Paul, Witkin, Matthew, Koche, Richard, Betel, Doron, Chen, Shuibing, Massagué, Joan, Garippa, Ralph, Evans, Todd, Beer, Michael A., and Huangfu, Danwei

Published
2019
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25. Supplementary Data from BCL6 Evolved to Enable Stress Tolerance in Vertebrates and Is Broadly Required by Cancer Cells to Adapt to Stress

Author

Fernando, Tharu M., primary, Marullo, Rossella, primary, Pera Gresely, Benet, primary, Phillip, Jude M., primary, Yang, Shao Ning, primary, Lundell-Smith, Geoffrey, primary, Torregroza, Ingrid, primary, Ahn, Haelee, primary, Evans, Todd, primary, Győrffy, Balázs, primary, Privé, Gilbert G., primary, Hirano, Masayuki, primary, Melnick, Ari M., primary, and Cerchietti, Leandro, primary

Published
2023
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26. Data from BCL6 Evolved to Enable Stress Tolerance in Vertebrates and Is Broadly Required by Cancer Cells to Adapt to Stress

Author

Fernando, Tharu M., primary, Marullo, Rossella, primary, Pera Gresely, Benet, primary, Phillip, Jude M., primary, Yang, Shao Ning, primary, Lundell-Smith, Geoffrey, primary, Torregroza, Ingrid, primary, Ahn, Haelee, primary, Evans, Todd, primary, Győrffy, Balázs, primary, Privé, Gilbert G., primary, Hirano, Masayuki, primary, Melnick, Ari M., primary, and Cerchietti, Leandro, primary

Published
2023
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28. Inborn errors of OAS-RNase L in SARS-CoV-2-related multisystem inflammatory syndrome in children

Author

Howard Hughes Medical Institute, Rockefeller University, St. Giles Foundation, National Institutes of Health (US), Instituto de Salud Carlos III, Ministerio de Ciencia e Innovación (España), Fundación Mapfre, Cabildo de Tenerife, Fundació La Marató de TV3, Centro de Investigación Biomédica en Red Enfermedades Raras (España), Consejo Superior de Investigaciones Científicas (España), European Commission, Pérez-Tur, Jordi [0000-0002-9111-1712], Lee, Danyel, Le Pen, Jeremie, Yatim, Ahmad, Dong, Beihua, Aquino, Yann, Ogishi, Masato, Pescarmona, Remi, Talouarn, Estelle, Rinchai, Darawan, Zhang, Peng, Perret, Magali, Rice, Charles M., Silverman, Robert H., Zhang, Shen-Ying, Casanova, Jean-Laurent, Liu, Zhiyong, Jordan, Iolanda, Bozdemir, Sefika Elmas, Bayhan, Gulsum Iclal, Beaufils, Camille, Bizien, Lucy, Bisiaux, Aurelie, Lei, Weite, Hasan, Milena, Chen, Jie, Gaughan, Christina, Asthana, Abhishek, Libri, Valentina, Luna, Joseph M., Jaffre, Fabrice, Hoffmann, H-Heinrich, Michailidis, Eleftherios, Moreews, Marion, Seeleuthner, Yoann, Bilguvar, Kaya, Mane, Shrikant, Flores, Carlos, Zhang, Yu, Arias, Andres A., Bailey, Rasheed, Schluter, Agatha, Milisavljevic, Baptiste, Bigio, Benedetta, Le Voyer, Tom, Materna, Marie, Gervais, Adrian, Moncada-Velez, Marcela, Pala, Francesca, Lazarov, Tomi, Levy, Romain, Neehus, Anna-Lena, Rosain, Jeremie, Peel, Jessica, Chan, Yi-Hao, Morin, Marie-Paule, Pino-Ramírez, Rosa María, Belkaya, Serkan, Lorenzo, Lazaro, Anton, Jordi, Delafontaine, Selket, Toubiana, Julie, Bajolle, Fanny, Fumado, Victoria, DeDiego, Marta L., Fidouh, Nadhira, Rozenberg, Flore, Pérez-Tur, Jordi, Chen, Shuibing, Evans, Todd, Geissmann, Frederic, Lebon, Pierre, Weiss, Susan R., Bonnet, Damien, Duval, Xavier, Pan-Hammarström, Qiang, Planas, Anna M., Meyts, Isabelle, Haerynck, Filomeen, Pujol, Aurora, Sancho-Shimizu, Vanessa, Dalgard, Clifford L., Bustamante, Jacinta, Puel, Anne, Boisson-Dupuis, Stéphanie, Boisson, Bertrand, Maniatis, Tom, Zhang, Qian, Bastard, Paul, Notarangelo, Luigi, Beziat, Vivien, Pérez de Diego, Rebeca, Rodriguez-Gallego, Carlos, Su, Helen C., Lifton, Richard P, Jouanguy, Emmanuelle, Cobat, Aurelie, Alsina, Laia, Keles, Sevgi, Haddad, Elie, Abel, Laurent, Belot, Alexandre, Quintana-Murci, Lluis, Howard Hughes Medical Institute, Rockefeller University, St. Giles Foundation, National Institutes of Health (US), Instituto de Salud Carlos III, Ministerio de Ciencia e Innovación (España), Fundación Mapfre, Cabildo de Tenerife, Fundació La Marató de TV3, Centro de Investigación Biomédica en Red Enfermedades Raras (España), Consejo Superior de Investigaciones Científicas (España), European Commission, Pérez-Tur, Jordi [0000-0002-9111-1712], Lee, Danyel, Le Pen, Jeremie, Yatim, Ahmad, Dong, Beihua, Aquino, Yann, Ogishi, Masato, Pescarmona, Remi, Talouarn, Estelle, Rinchai, Darawan, Zhang, Peng, Perret, Magali, Rice, Charles M., Silverman, Robert H., Zhang, Shen-Ying, Casanova, Jean-Laurent, Liu, Zhiyong, Jordan, Iolanda, Bozdemir, Sefika Elmas, Bayhan, Gulsum Iclal, Beaufils, Camille, Bizien, Lucy, Bisiaux, Aurelie, Lei, Weite, Hasan, Milena, Chen, Jie, Gaughan, Christina, Asthana, Abhishek, Libri, Valentina, Luna, Joseph M., Jaffre, Fabrice, Hoffmann, H-Heinrich, Michailidis, Eleftherios, Moreews, Marion, Seeleuthner, Yoann, Bilguvar, Kaya, Mane, Shrikant, Flores, Carlos, Zhang, Yu, Arias, Andres A., Bailey, Rasheed, Schluter, Agatha, Milisavljevic, Baptiste, Bigio, Benedetta, Le Voyer, Tom, Materna, Marie, Gervais, Adrian, Moncada-Velez, Marcela, Pala, Francesca, Lazarov, Tomi, Levy, Romain, Neehus, Anna-Lena, Rosain, Jeremie, Peel, Jessica, Chan, Yi-Hao, Morin, Marie-Paule, Pino-Ramírez, Rosa María, Belkaya, Serkan, Lorenzo, Lazaro, Anton, Jordi, Delafontaine, Selket, Toubiana, Julie, Bajolle, Fanny, Fumado, Victoria, DeDiego, Marta L., Fidouh, Nadhira, Rozenberg, Flore, Pérez-Tur, Jordi, Chen, Shuibing, Evans, Todd, Geissmann, Frederic, Lebon, Pierre, Weiss, Susan R., Bonnet, Damien, Duval, Xavier, Pan-Hammarström, Qiang, Planas, Anna M., Meyts, Isabelle, Haerynck, Filomeen, Pujol, Aurora, Sancho-Shimizu, Vanessa, Dalgard, Clifford L., Bustamante, Jacinta, Puel, Anne, Boisson-Dupuis, Stéphanie, Boisson, Bertrand, Maniatis, Tom, Zhang, Qian, Bastard, Paul, Notarangelo, Luigi, Beziat, Vivien, Pérez de Diego, Rebeca, Rodriguez-Gallego, Carlos, Su, Helen C., Lifton, Richard P, Jouanguy, Emmanuelle, Cobat, Aurelie, Alsina, Laia, Keles, Sevgi, Haddad, Elie, Abel, Laurent, Belot, Alexandre, and Quintana-Murci, Lluis

Abstract

Multisystem inflammatory syndrome in children (MIS-C) is a rare and severe condition that follows benign COVID-19. We report autosomal recessive deficiencies of OAS1, OAS2, or RNASEL in five unrelated children with MIS-C. The cytosolic double-stranded RNA (dsRNA)-sensing OAS1 and OAS2 generate 2'-5'-linked oligoadenylates (2-5A) that activate the single-stranded RNA-degrading ribonuclease L (RNase L). Monocytic cell lines and primary myeloid cells with OAS1, OAS2, or RNase L deficiencies produce excessive amounts of inflammatory cytokines upon dsRNA or severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) stimulation. Exogenous 2-5A suppresses cytokine production in OAS1-deficient but not RNase L-deficient cells. Cytokine production in RNase L-deficient cells is impaired by MDA5 or RIG-I deficiency and abolished by mitochondrial antiviral-signaling protein (MAVS) deficiency. Recessive OAS-RNase L deficiencies in these patients unleash the production of SARS-CoV-2-triggered, MAVS-mediated inflammatory cytokines by mononuclear phagocytes, thereby underlying MIS-C

Published
2023

29. Visualizing DIII-D Tokarnak Magnetic Field Lines

Author

Schussman, Greg, Ma, Kwan-Liu, Schissel, David, and Evans, Todd

Subjects
Graphics hardware, haloed lines, illuminated lines, interactive visualization, magnetic field, plasma physics, tokamak
Abstract

We demonstrate the use of a combination of perceptually effective techniques for visualizing magnetic field data from the DIII-D Tokamak. These techniques can be implemented to run very efficiently on machines with hardware support for OpenGL. Interactive speeds facilitate clear communication of magnetic field structure, enhancing fusion scientists' understanding of their data, and thereby accelerating their research.

Published
2000

35. Dual role of lipids for genome stability and pluripotency facilitates full potency of mouse embryonic stem cells

Author

Zhong, Liangwen, primary, Gordillo, Miriam, additional, Wang, Xingyi, additional, Qin, Yiren, additional, Huang, Yuanyuan, additional, Soshnev, Alexey, additional, Kumar, Ritu, additional, Nanjangud, Gouri, additional, James, Daylon, additional, David Allis, C, additional, Evans, Todd, additional, Carey, Bryce, additional, and Wen, Duancheng, additional

Published
2023
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38. Modeling and drug screening of inherited short-coupled polymorphic ventricular tachycardia using patient derived tissue

Author

Sleiman, Yvonne, primary, Reiken, Steven, additional, Charrabi, Azzouz, additional, Jaffré, Fabrice, additional, Sittenfeld, Leah R., additional, Pasquié, Jean-Luc, additional, Lerman, Bruce B., additional, Chen, Shuibing, additional, Marks, Andrew R., additional, Cheung, Jim W., additional, Evans, Todd, additional, Lacampagne, Alain, additional, and Meli, Albano, additional

Published
2022
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39. Colonic organoids derived from human induced pluripotent stem cells for modeling colorectal cancer and drug testing

Author

Crespo, Miguel, Vilar, Eduardo, Tsai, Su-Yi, Chang, Kyle, Amin, Sadaf, Srinivasan, Tara, Zhang, Tuo, Pipalia, Nina H, Chen, Huanhuan Joyce, Witherspoon, Mavee, Gordillo, Miriam, Xiang, Jenny Zhaoying, Maxfield, Frederick R, Lipkin, Steven, Evans, Todd, and Chen, Shuibing

Subjects
Gene expression -- Research, Stem cells -- Analysis -- Models -- Research, Colorectal cancer -- Research -- Drug therapy, Rapamycin -- Dosage and administration, Biological sciences, Health
Abstract

Author(s): Miguel Crespo [1]; Eduardo Vilar [2, 3, 4]; Su-Yi Tsai [1]; Kyle Chang [2]; Sadaf Amin [1, 5]; Tara Srinivasan [6]; Tuo Zhang [7]; Nina H Pipalia [8]; Huanhuan [...]

Published
2017
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40. Inborn errors of OAS–RNase L in SARS-CoV-2–related multisystem inflammatory syndrome in children

Author

Lee, Danyel, Le Pen, Jérémie, Yatim, Ahmad, Dong, Beihua, Aquino, Yann, Ogishi, Masato, Pescarmona, Rémi, Talouarn, Estelle, Rinchai, Darawan, Zhang, Peng, Perret, Magali, Liu, Zhiyong, Jordan, Iolanda, Elmas Bozdemir, Sefika, Bayhan, Gulsum Iclal, Beaufils, Camille, Bizien, Lucy, Bisiaux, Aurelie, Lei, Weite, Hasan, Milena, Chen, Jie, Gaughan, Christina, Asthana, Abhishek, Libri, Valentina, Luna, Joseph, Jaffré, Fabrice, Hoffmann, H.-Heinrich, Michailidis, Eleftherios, Moreews, Marion, Seeleuthner, Yoann, Bilguvar, Kaya, Mane, Shrikant, Flores, Carlos, Zhang, Yu, Arias, Andrés, Bailey, Rasheed, Schlüter, Agatha, Milisavljevic, Baptiste, Bigio, Benedetta, Le Voyer, Tom, Materna, Marie, Gervais, Adrian, Moncada-Velez, Marcela, Pala, Francesca, Lazarov, Tomi, Levy, Romain, Neehus, Anna-Lena, Rosain, Jérémie, Peel, Jessica, Chan, Yi-Hao, Morin, Marie-Paule, Pino-Ramirez, Rosa Maria, Belkaya, Serkan, Lorenzo, Lazaro, Anton, Jordi, Delafontaine, Selket, Toubiana, Julie, Bajolle, Fanny, Fumadó, Victoria, Dediego, Marta, Fidouh, Nadhira, Rozenberg, Flore, Pérez-Tur, Jordi, Chen, Shuibing, Evans, Todd, Geissmann, Frédéric, Lebon, Pierre, Weiss, Susan, Bonnet, Damien, Duval, Xavier, Pan-Hammarström, Qiang, Planas, Anna, Meyts, Isabelle, Haerynck, Filomeen, Pujol, Aurora, Sancho-Shimizu, Vanessa, Dalgard, Clifford, Bustamante, Jacinta, Puel, Anne, Boisson-Dupuis, Stéphanie, Boisson, Bertrand, Maniatis, Tom, Zhang, Qian, Bastard, Paul, Notarangelo, Luigi, Béziat, Vivien, Perez de Diego, Rebeca, Rodriguez-Gallego, Carlos, Su, Helen, Lifton, Richard, Jouanguy, Emmanuelle, Cobat, Aurélie, Alsina, Laia, Keles, Sevgi, Haddad, Elie, Abel, Laurent, Belot, Alexandre, Quintana-Murci, Lluis, Rice, Charles, Silverman, Robert, Zhang, Shen-Ying, Casanova, Jean-Laurent, Alavoine, Loubna, Behillil, Sylvie, Burdet, Charles, Charpentier, Charlotte, Dechanet, Aline, Descamps, Diane, Ecobichon, Jean-Luc, Enouf, Vincent, Frezouls, Wahiba, Houhou, Nadhira, Kafif, Ouifiya, Lehacaut, Jonathan, Letrou, Sophie, Lina, Bruno, Lucet, Jean-Christophe, Manchon, Pauline, Nouroudine, Mariama, Piquard, Valentine, Quintin, Caroline, Thy, Michael, Tubiana, Sarah, van der Werf, Sylvie, Vignali, Valérie, Visseaux, Benoit, Yazdanpanah, Yazdan, Chahine, Abir, Waucquier, Nawal, Migaud, Maria-Claire, Deplanque, Dominique, Djossou, Félix, Mergeay-Fabre, Mayka, Lucarelli, Aude, Demar, Magalie, Bruneau, Léa, Gérardin, Patrick, Maillot, Adrien, Payet, Christine, Laviolle, Bruno, Laine, Fabrice, Paris, Christophe, Desille-Dugast, Mireille, Fouchard, Julie, Malvy, Denis, Nguyen, Duc, Pistone, Thierry, Perreau, Pauline, Gissot, Valérie, Le Goas, Carole, Montagne, Samatha, Richard, Lucie, Chirouze, Catherine, Bouiller, Kévin, Desmarets, Maxime, Meunier, Alexandre, Lefèvre, Benjamin, Jeulin, Hélène, Legrand, Karine, Lomazzi, Sandra, Tardy, Bernard, Gagneux-Brunon, Amandine, Bertholon, Frédérique, Botelho-Nevers, Elisabeth, Christelle, Kouakam, Nicolas, Leturque, Roufai, Layidé, Amat, Karine, Couffin-Cadiergues, Sandrine, Espérou, Hélène, Hendou, Samia, Abolhassani, Hassan, Aguilera-Albesa, Sergio, Aiuti, Alessandro, Akcan, Ozge Metin, Akcay, Nihal, Alkan, Gulsum, Alkhater, Suzan, Allende, Luis Miguel, Alper, Yosunkaya, Amenzoui, Naima, Anderson, Mark, Arkin, Lisa, Aubart, Melodie, Avramenko, Iryna, Aydemir, Şehnaz, Gayretli Aydin, Zeynep Gökçe, Aytekin, Caner, Aytekin, Gökhan, Erol Aytekin, Selma, Bando, Silvia Yumi, Beland, Kathie, Biggs, Catherine, Bilbao Aburto, Agurtzane, Blanchard-Rohner, Geraldine, Blázquez-Gamero, Daniel, Bloomfield, Marketa, Bogunovic, Dusan, Bondarenko, Anastasia, Borghesi, Alessandro, Bousfiha, Amed Aziz, Boyarchuk, Oksana, Brodin, Petter, Bryceson, Yenan, Bucciol, Giorgia, Calcaterra, Valeria, Casari, Giorgio, Cavalcanti, Andre, Celik, Jale Bengi, Chrousos, George, Colobran, Roger, Condino-Neto, Antonio, Conti, Francesca, Cooper, Megan, Coskuner, Taner, Cyrus, Cyril, D’auria, Enza, Drolet, Beth, Bursal Duramaz, Burcu, El Zein, Loubna, Elnagdy, Marwa, Emiroglu, Melike, Erdeniz, Emine Hafize, Fabi, Marianna, Baris Feldman, Hagit, Fellay, Jacques, Fencl, Filip, Filippatos, Filippos, Freiss, Julie, Fremuth, Jiri, Gagro, Alenka, Garcia-Solis, Blanca, Vergine, Gianluca, González-Montelongo, Rafaela, Gul, Yahya, Gülhan, Belgin, Gultekin, Sara Sebnem Kilic, Gut, Marta, Halwani, Rabih, Hammarström, Lennart, Hatipoğlu, Nevin, Heath, James, Henrickson, Sarah, Hernandez-Brito, Elisa, Hoffman, Ilse, Hoste, Levi, Hsieh, Elena, Íñigo-Campos, Antonio, Itan, Yuval, Jabandziev, Petr, Kandemir, Bahar, Kanık-Yüksek, Saliha, Kapakli, Hasan, Karbuz, Adem, Kasapcopur, Ozgur, Kechiche, Robin, Kendir Demirkol, Yasemin, Kilic, Omer, Hansen, Stella Kim, Klocperk, Adam, Lau, Yu-Lung, Lebl, Jan, Lorenzo-Salazar, José, Lucas, Carrie, Maglorius, Majistor, Marque, Laura, Novoa Medina, Yeray, Montesdeoca Melián, Abián, Mentis, Alexios-Fotios, Pato, Michele, Michos, Athanasios, Milner, Joshua, Mogensen, Trine, Muñoz-Barrera, Adrián, Nepesov, Serdar, Farela Neves, João, Ng, Ashley, Ng, Lisa, Novelli, Antonio, Novelli, Giuseppe, Oz, Fatma Nur, Ocejo-Viñals, J. Gonzalo, Okada, Satoshi, Orbak, Zerrin, Kilic, Ahmet Osman, Ouair, Hind, Öz, Şadiye Kübra Tüter, Özçelik, Tayfun, Özkan, Esra Akyüz, Parlakay, Aslınur Özkaya, Pato, Carlos, Paz-Artal, Estela, Pelham, Simon, Pellier, Isabelle, Philippot, Quentin, Planas-Serra, Laura, Plassart, Samira, Pokorna, Petra, Polat, Meltem, Poli, Cecilia, Prando, Carolina, Renia, Laurent, Rivière, Jacques, Rodríguez-Palmero, Agustí, Roussel, Lucie, Rubio-Rodriguez, Luis, Salifu, Moro, Sasek, Lumir, Sasia, Laura, Scherbina, Anna, Schmitt, Erica, Sediva, Anna, Sevketoglu, Esra, Slaba, Katerina, Slaby, Ondrej, Sobh, Ali, Solé-Violán, Jordi, Soler-Palacin, Pere, de Somer, Lien, Sözeri, Betül, Spaan, András, Stepanovskiy, Yuriy, Tangye, Stuart, Tanir, Gonul, Tatsi, Elizabeth Barbara, Thorball, Christian, Hancerli Torun, Selda, Turvey, Stuart, Uddin, Mohammed, Uyar, Emel, Valencia-Ramos, Juan, van den Rym, Ana Maria, Vatansev, Hulya, Castillo de Vera, Martín, Vermeulen, François, Vinh, Donald, Volokha, Alla, von Bernuth, Horst, Wouters, Carine, Yahşi, Aysun, Yarar, Volkan, Yesilbas, Osman, Yıldız, Mehmet, Zatz, Mayana, Zawadzki, Pawel, Zuccotti, Gianvincenzo, Rockefeller University [New York], Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Institut de génétique humaine (IGH), Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Génomique évolutive, modélisation et santé (GEMS), Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), Centre International de Recherche en Infectiologie (CIRI), École normale supérieure de Lyon (ENS de Lyon)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre de référence des rhumatismes inflammatoires et maladies auto-immunes systémiques rares de l’enfant / National Referee Centre for Rheumatic and AutoImmune and Systemic Diseases in Children [Lyon] (RAISE), Hospices Civils de Lyon (HCL), Centre Hospitalier Lyon Sud [CHU - HCL] (CHLS), Génétique Physiologie et Systèmes d'Elevage (GenPhySE ), Ecole Nationale Vétérinaire de Toulouse (ENVT), Institut National Polytechnique (Toulouse) (Toulouse INP), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National Polytechnique (Toulouse) (Toulouse INP), Université de Toulouse (UT)-Université de Toulouse (UT)-École nationale supérieure agronomique de Toulouse (ENSAT), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Sidra Medicine [Doha, Qatar], BIOASTER Technology Research Institute, Lyon, France, St. Giles Laboratory of Human Genetics of Infectious Diseases, Department of Paediatrics and Intensive Care, Hospital Universitari Sant Joan de Deu, Human genetics of infectious diseases : Mendelian predisposition (Equipe Inserm U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Département de Pédiatrie et maladies infectieuses [CHU Necker], CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Génétique Evolutive Humaine - Human Evolutionary Genetics, Centre de Recherche Translationnelle - Center for Translational Science (CRT), Institut Pasteur [Paris] (IP)-Université Paris Cité (UPCité), Shanghai Jiaotong University, Sheffield Hallam University, Institut Jean Lamour (IJL), Institut de Chimie du CNRS (INC)-Université de Lorraine (UL)-Centre National de la Recherche Scientifique (CNRS), Institut Pasteur [Paris] (IP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Infection, Anti-microbiens, Modélisation, Evolution (IAME (UMR_S_1137 / U1137)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité)-Université Sorbonne Paris Nord, Centre d'investigation Clinique [CHU Bichat] - Épidémiologie clinique (CIC 1425), AP-HP - Hôpital Bichat - Claude Bernard [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM), Biodiversité et Epidémiologie des Bactéries pathogènes - Biodiversity and Epidemiology of Bacterial Pathogens, Centre d'Investigation Clinique - Innovation Technologique de Lille - CIC 1403 - CIC 9301 (CIC Lille), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Centre d'Investigation Clinique Antilles-Guyane (CIC - Antilles Guyane), Université des Antilles et de la Guyane (UAG)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pointe-à-Pitre/Abymes [Guadeloupe] -CHU de Fort de France-Centre Hospitalier Andrée Rosemon [Cayenne, Guyane Française], Centre d'Investigation Clinique de La Réunion - INSERM (CIC 1410), Université de La Réunion (UR)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre Hospitalier Universitaire de La Réunion (CHU La Réunion), Centre d'Investigation Clinique [Rennes] (CIC), Université de Rennes (UR)-Hôpital Pontchaillou-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Pontchaillou [Rennes], The Laboratory of Human Genetics of Infectious Diseases is supported by the Howard Hughes Medical Institute, the Rockefeller University, the St. Giles Foundation, the National Institutes of Health (NIH) (R01AI088364 and R21AI160576), the National Center for Advancing Translational Sciences (NCATS), NIH Clinical and Translational Science Award (CTSA) program (UL1TR001866), the Yale Center for Mendelian Genomics and the GSP Coordinating Center funded by the National Human Genome Research Institute (NHGRI) (UM1HG006504 and U24HG008956), the Yale High-Performance Computing Center (S10OD018521), the Fisher Center for Alzheimer’s Research Foundation, the Meyer Foundation, the JBP Foundation, the French National Research Agency (ANR) under the 'Investments for the Future' program (ANR-10-IAHU-01), the Integrative Biology of Emerging Infectious Diseases Laboratory of Excellence (ANR-10-LABX-62-IBEID), the French Foundation for Medical Research (FRM) (EQU201903007798), the ANR GenMISC (ANR-21-COVR-039), the ANRS-COV05, ANR GENVIR (ANR-20-CE93-003) and ANR AABIFNCOV (ANR-20-CO11-0001) projects, the ANR-RHU program (ANR-21-RHUS-08), the European Union’s Horizon 2020 research and innovation program under grant agreement 824110 (EASI-genomics), the HORIZON-HLTH-2021-DISEASE-04 program under grant agreement 01057100 (UNDINE), the ANR-RHU Program ANR-21-RHUS-08 (COVIFERON), the Square Foundation, Grandir – Fonds de solidarité pour l’enfance, the Fondation du Souffle, the SCOR Corporate Foundation for Science, the French Ministry of Higher Education, Research, and Innovation (MESRI-COVID-19), Institut National de la Santé et de la Recherche Médicale (INSERM), and Paris Cité University. We acknowledge support from the National Institute of Allergy and Infectious Diseases (NIAID) of the NIH under award R01AI104887 to R.H.S. and S.R.W. The Laboratory of Human Evolutionary Genetics (Institut Pasteur) is supported by the Institut Pasteur, the Collège de France, the French Government’s Investissement d’Avenir program, Laboratoires d’Excellence 'Integrative Biology of Emerging Infectious Diseases' (ANR-10-LABX-62-IBEID) and 'Milieu Intérieur' (ANR-10-LABX-69-01), the Fondation de France (no. 00106080), the FRM (Equipe FRM DEQ20180339214 team), and the ANR COVID-19-POPCELL (ANR-21-CO14-0003-01). A.Puj. is supported by ACCI20-759 CIBERER, EasiGenomics H2020 Marató TV3 COVID 2021-31-33, the HORIZON-HLTH-2021-ID: 101057100 (UNDINE), the Horizon 2020 program under grant no. 824110 (EasiGenomics grant no. COVID-19/PID12342), and the CERCA Program/Generalitat de Catalunya. The Canarian Health System sequencing hub was funded by the Instituto de Salud Carlos III (COV20_01333 and COV20_01334), the Spanish Ministry of Science and Innovation (RTC-2017-6471-1, AEI/FEDER, UE), Fundación MAPFRE Guanarteme (OA21/131), and Cabildo Insular de Tenerife (CGIEU0000219140 and 'Apuestas científicas del ITER para colaborar en la lucha contra la COVID-19'). The CoV-Contact Cohort was funded by the French Ministry of Health and the European Commission (RECOVER project). Our studies are also funded by the Ministry of Health of the Czech Republic Conceptual Development of Research Organization (FNBr, 65269705) and ANID COVID0999 funding in Chile. G. Novelli and A. Novelli are supported by Regione Lazio (Research Group Projects 2020) No. A0375-2020-36663, GecoBiomark. A.M.P., M.L.D., and J.P.-T. are supported by the Inmungen-CoV2 project of CSIC. This work was supported in part by the Intramural Research Program of the NIAID, NIH. The research work of A.M.P, M.L.D., and J.P.-T. was funded by the European Commission –NextGenerationEU (Regulation EU 2020/2094), through CSIC’s Global Health Platform (PTI Salud Global). I.M. is a senior clinical investigator at FWO Vlaanderen supported by a VIB GC PID grant, by FWO grants G0B5120N (DADA2) and G0E8420N, and by the Jeffrey Modell Foundation. I.M. holds an ERC-StG MORE2ADA2 grant and is also supported by ERN-RITA.​ A.Y. is supported by fellowships from the European Academy of Dermatology and Venereology and the Swiss National Science Foundation and by an Early Career Award from the Thrasher Research Fund. Y.-H.C. is supported by an A*STAR International Fellowship (AIF). M.O. was supported by the David Rockefeller Graduate Program, the New York Hideyo Noguchi Memorial Society (HNMS), the Funai Foundation for Information Technology (FFIT), the Honjo International Scholarship Foundation (HISF), and the National Cancer Institute (NCI) F99 Award (F99CA274708). A.A.A. was supported by Ministerio de Ciencia Tecnología e Innovación MINCIENCIAS, Colombia (111584467551/CT 415-2020). D.L. is supported by a fellowship from the FRM for medical residents and fellows. E.H. received funding from the Bank of Montreal Chair of Pediatric Immunology, Foundation of CHU Sainte-Justine, CIHR grants PCC-466901 and MM1-181123, and a Canadian Pediatric Society IMPACT study. Q.P.-H. received funding from the European Union’s Horizon 2020 research and innovation program (ATAC, 101003650), the Swedish Research Council, and the Knut and Alice Wallenberg Foundation. Work in the Laboratory of Virology and Infectious Disease was supported by NIH grants P01AI138398-S1, 2U19AI111825, R01AI091707-10S1, and R01AI161444, a George Mason University Fast Grant, the G. Harold and Leila Y. Mathers Charitable Foundation, the Meyer Foundation, and the Bawd Foundation. R.P.L. is on the board of directors of both Roche and the Roche subsidiary Genentech. J.L.P. was supported by a Francois Wallace Monahan Postdoctoral Fellowship at the Rockefeller University and by a European Molecular Biology Organization Long-Term Fellowship (ALTF 380-2018)., ANR-10-IAHU-0001,Imagine,Institut Hospitalo-Universitaire Imagine(2010), ANR-10-LABX-0062,IBEID,Integrative Biology of Emerging Infectious Diseases(2010), ANR-21-COVR-0039,GenMIS-C,Recherche des Déficits immunitaires innées monogéniques prédisposant au syndrome inflammatoire multisystémique chez l'enfant.(2021), ANR-20-CE93-0003,GENVIR,Analyse multi-omique de l'immunité anti-virale: de l'identification des circuits biologiques pertinents à la découverte de défauts monogéniques héréditaires de l'immunité chez les patients avec infections virales sévères(2020), ANR-20-CO11-0001,AABIFNCOV,Bases génétiques et immunologiques des auto-anticorps contre les interférons de type I prédisposant aux formes sévères de COVID-19.(2020), ANR-21-RHUS-0008,COVIFERON,Covid-19 and interferons: from discovery to therapy(2021), ANR-10-LABX-0069,MILIEU INTERIEUR,GENETIC & ENVIRONMENTAL CONTROL OF IMMUNE PHENOTYPE VARIANCE: ESTABLISHING A PATH TOWARDS PERSONALIZED MEDICINE(2010), ANR-21-CO14-0003,COVID-19-POPCELL,Facteurs génétiques et infectieux à l'origine de la variabilité populationnelle de la réponse immunitaire à l'infection par le SARS-CoV-2(2021), European Project: 824110,H2020-INFRAIA-2018-1,EASI-Genomics(2019), European Project: 101057100,UNDINE, Howard Hughes Medical Institute, Rockefeller University, St. Giles Foundation, National Institutes of Health (US), Instituto de Salud Carlos III, Ministerio de Ciencia e Innovación (España), Fundación Mapfre, Cabildo de Tenerife, Fundació La Marató de TV3, Centro de Investigación Biomédica en Red Enfermedades Raras (España), Consejo Superior de Investigaciones Científicas (España), European Commission, and Pérez-Tur, Jordi

Subjects
Multidisciplinary, Settore MED/03, [SDV]Life Sciences [q-bio], Medicine and Health Sciences, CoV-Contact Cohort§
Abstract

62 páginas, 5 figuras, 2 tablas, Multisystem inflammatory syndrome in children (MIS-C) is a rare and severe condition that follows benign COVID-19. We report autosomal recessive deficiencies of OAS1, OAS2, or RNASEL in five unrelated children with MIS-C. The cytosolic double-stranded RNA (dsRNA)-sensing OAS1 and OAS2 generate 2'-5'-linked oligoadenylates (2-5A) that activate the single-stranded RNA-degrading ribonuclease L (RNase L). Monocytic cell lines and primary myeloid cells with OAS1, OAS2, or RNase L deficiencies produce excessive amounts of inflammatory cytokines upon dsRNA or severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) stimulation. Exogenous 2-5A suppresses cytokine production in OAS1-deficient but not RNase L-deficient cells. Cytokine production in RNase L-deficient cells is impaired by MDA5 or RIG-I deficiency and abolished by mitochondrial antiviral-signaling protein (MAVS) deficiency. Recessive OAS-RNase L deficiencies in these patients unleash the production of SARS-CoV-2-triggered, MAVS-mediated inflammatory cytokines by mononuclear phagocytes, thereby underlying MIS-C, The Laboratory of Human Genetics of Infectious Diseases is supported by the Howard Hughes Medical Institute, the Rockefeller University, the St. Giles Foundation, the National Institutes of Health (NIH) (R01AI088364 and R21AI160576), the National Center for Advancing Translational Sciences (NCATS), NIH Clinical and Translational Science Award (CTSA) program (UL1TR001866), the Yale Center for Mendelian Genomics and the GSP Coordinating Center funded by the National Human Genome Research Institute (NHGRI) (UM1HG006504 and U24HG008956), the Yale High-Performance Computing Center (S10OD018521), the Fisher Center for Alzheimer’s Research Foundation, the Meyer Foundation, the JBP Foundation, the French National Research Agency (ANR) under the “Investments for the Future” program (ANR-10-IAHU-01), the Integrative Biology of Emerging Infectious Diseases Laboratory of Excellence (ANR-10- LABX-62-IBEID), the French Foundation for Medical Research (FRM) (EQU201903007798), the ANR GenMISC (ANR-21-COVR-039), the ANRS-COV05, ANR GENVIR (ANR-20-CE93-003) and ANR AABIFNCOV (ANR-20-CO11-0001) projects, the ANR-RHU program (ANR-21-RHUS-08), the European Union’s Horizon 2020 research and innovation program under grant agreement 824110 (EASI-genomics), the HORIZON-HLTH-2021-DISEASE-04 program under grant agreement 01057100 (UNDINE), the ANR-RHU Program ANR-21- RHUS-08 (COVIFERON), the Square Foundation, Grandir – Fonds de solidarité pour l’enfance, the Fondation du Souffle, the SCOR Corporate Foundation for Science, the French Ministry of Higher Education, Research, and Innovation (MESRI-COVID-19), Institut National de la Santé et de la Recherche Médicale (INSERM), and Paris Cité University. We acknowledge support from the National Institute of Allergy and Infectious Diseases (NIAID) of the NIH under award R01AI104887 to R.H.S. and S.R.W. The Laboratory of Human Evolutionary Genetics (Institut Pasteur) is supported by the Institut Pasteur, the Collège de France, the French Government’s Investissement d’Avenir program, Laboratoires d’Excellence “Integrative Biology of Emerging Infectious Diseases” (ANR-10-LABX-62-IBEID) and “Milieu Intérieur” (ANR-10-LABX-69-01), the Fondation de France (no. 00106080), the FRM (Equipe FRM DEQ20180339214 team), and the ANR COVID-19-POPCELL (ANR-21-CO14-0003-01). A.Puj. is supported by ACCI20-759 CIBERER, EasiGenomics H2020 Marató TV3 COVID 2021-31-33, the HORIZON-HLTH-2021-ID: 101057100 (UNDINE), the Horizon 2020 program under grant no. 824110 (EasiGenomics grant no. COVID-19/PID12342), and the CERCA Program/Generalitat de Catalunya. The Canarian Health System sequencing hub was funded by the Instituto de Salud Carlos III (COV20_01333 and COV20_01334), the Spanish Ministry of Science and Innovation (RTC-2017-6471-1; AEI/FEDER, UE), Fundación MAPFRE Guanarteme (OA21/131), and Cabildo Insular de Tenerife (CGIEU0000219140 and “Apuestas científicas del ITER para colaborar en la lucha contra la COVID-19”). The CoV-Contact Cohort was funded by the French Ministry of Health and the European Commission (RECOVER project). Our studies are also funded by the Ministry of Health of the Czech Republic Conceptual Development of Research Organization (FNBr, 65269705) and ANID COVID0999 funding in Chile. G. Novelli and A. Novelli are supported by Regione Lazio (Research Group Projects 2020) No. A0375-2020-36663, GecoBiomark. A.M.P., M.L.D., and J.P.-T. are supported by the Inmungen-CoV2 project of CSIC. This work was supported in part by the Intramural Research Program of the NIAID, NIH. The research work of A.M..P, M.L.D., and J.P.-T. was funded by the European Commission –NextGenerationEU (Regulation EU 2020/2094), through CSIC’s Global Health Platform (PTI Salud Global). I.M. is a senior clinical investigator at FWO Vlaanderen supported by a VIB GC PID grant, by FWO grants G0B5120N (DADA2) and G0E8420N, and by the Jeffrey Modell Foundation. I.M. holds an ERC-StG MORE2ADA2 grant and is also supported by ERN-RITA. A.Y. is supported by fellowships from the European Academy of Dermatology and Venereology and the Swiss National Science Foundation and by an Early Career Award from the Thrasher Research Fund. Y.-H.C. is supported by an A*STAR International Fellowship (AIF). M.O. was supported by the David Rockefeller Graduate Program, the New York Hideyo Noguchi Memorial Society (HNMS), the Funai Foundation for Information Technology (FFIT), the Honjo International Scholarship Foundation (HISF), and the National Cancer Institute (NCI) F99 Award (F99CA274708). A.A.A. was supported by Ministerio de Ciencia Tecnología e Innovación MINCIENCIAS, Colombia (111584467551/CT 415-2020). D.L. is supported by a fellowship from the FRM for medical residents and fellows. E.H. received funding from the Bank of Montreal Chair of Pediatric Immunology, Foundation of CHU Sainte-Justine, CIHR grants PCC-466901 and MM1-181123, and a Canadian Pediatric Society IMPACT study. Q.P.-H. received funding from the European Union’s Horizon 2020 research and innovation program (ATAC, 101003650), the Swedish Research Council, and the Knut and Alice Wallenberg Foundation. Work in the Laboratory of Virology and Infectious Disease was supported by NIH grants P01AI138398-S1, 2U19AI111825, R01AI091707-10S1, and R01AI161444; a George Mason University Fast Grant; the G. Harold and Leila Y. Mathers Charitable Foundation; the Meyer Foundation; and the Bawd Foundation. R.P.L. is on the board of directors of both Roche and the Roche subsidiary Genentech. J.L.P. was supported by a Francois Wallace Monahan Postdoctoral Fellowship at the Rockefeller University and by a European Molecular Biology Organization Long-Term Fellowship (ALTF 380-2018).

Published
2023

41. Reduced DOCK4 expression leads to erythroid dysplasia in myelodysplastic syndromes

Author

Sundaravel, Sriram, Duggan, Ryan, Bhagat, Tushar, Ebenezer, David L., Liu, Hui, Yu, Yiting, Bartenstein, Matthias, Unnikrishnan, Madhu, Karmakar, Subhradip, Liu, Ting-Chun, Torregroza, Ingrid, Quenon, Thomas, Anastasi, John, McGraw, Kathy L., Pellagatti, Andrea, Boultwood, Jacqueline, Yajnik, Vijay, Artz, Andrew, Le Beau, Michelle M., Steidl, Ulrich, List, Alan F., Evans, Todd, Verma, Amit, and Wickrema, Amittha

Published
2015

42. Development and Validation of a Novel Knee-Specific Patient-Reported Outcomes Measure.

Author

Farnsworth II, James L., Evans, Todd, Binkley, Helen, and Kang, Minsoo

Subjects
*KNEE physiology, *STATISTICAL correlation, *EXPERIMENTAL design, *KNEE injuries, *RESEARCH methodology, *HEALTH outcome assessment, *PSYCHOMETRICS, *STATISTICAL sampling, *SPORTS injuries, *STATISTICS, *T-test (Statistics), *UNIVERSITIES & colleges, *QUALITATIVE research, *PILOT projects, *DATA analysis, *MULTITRAIT multimethod techniques, *CROSS-sectional method, *RESEARCH methodology evaluation, *DATA analysis software, *STATISTICAL models, *DESCRIPTIVE statistics, *EVALUATION, RESEARCH evaluation
Abstract

Context: Previous research suggests that several kneespecific patient -reported outcome measures have poor measurement properties. The patient-reported outcomes knee assessment tool (PROKAT) was created to improve assessment of knee-specific function. Examination of the measurement properties of this new measure is critical to determine its clinical value . Objective : Examine the measurement properties of the PROKAT. Design: Cross - sectional study . Setting: Clinical athletic training setting . Patients or Other Participants : The pilot study included 32 studentathletes ( mean age = 20.78 [ 1 . 011, males = 56 . 30%). The full study included 203 student-athletes (mean age = 21.46 [4.641, mates = 54.70%) from 3 separate institutions. The participants were recruited for both the pilot and full study using face-to-face and electronic (eg, email and social media sites) communications . Intervention(s ): Evaluation of the measurement properties of the PROKAT occurred using the Rasch partial-credit model . Main Outcome Measures : Infit and outfit statistics, item step difficulties, person ability parameters, category function, item and test information functions, and Cronbach alpha. An independent samples t test was used to evaluate the differences in injured and noninjured athletes' scores. Results: The Rasch partial-credit model analysis of pilot test items and qualitative participant feedback were used to modify the initial PROKAT. Evaluation of the revised PROKAT (32 items) indicated 27 items had acceptable model-data fit. The injured athletes scored significantly worse than the noninjured athletes (488= 12.89; P<.01).The ceiling effects for the PROKAT were minimal (3.9%). Conclusions: A major advantage of this study was the use of the Rasch measurement and the targeted population. Compared with alternative knee-specific patient-reported outcome measures (eg, Knee Injury Osteoarthritis Outcome Score, International Knee Documentation Committee Subjective Knee Form), the PROKAT has low ceiling effects in athletic populations. In addition, evidence suggests the measure may be capable of distinguishing between injured and noninjured athletes. [ABSTRACT FROM AUTHOR]

Published
2021
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43. Evaluation of Knee-Specific Patient-Reported Outcome Measures Using Rasch Analysis.

Author

Farnsworth II, James L., Evans, Todd, Binkley, Helen, and Kang, Minsoo

Subjects
*KNEE physiology, *ATHLETES, *CHI-squared test, *STATISTICAL correlation, *KNEE injuries, *HEALTH outcome assessment, *PSYCHOMETRICS, *QUESTIONNAIRES, *STATISTICAL sampling, *STATISTICS, *UNIVERSITIES & colleges, *DATA analysis, *SOCIAL media, *CROSS-sectional method, *PHYSICAL activity, *DATA analysis software, *FUNCTIONAL assessment, *DESCRIPTIVE statistics, *EVALUATION
Abstract

Context: Documentation of patient outcomes following injury is critical to ensure that patients are receiving the best care. Several patient-reported outcome measures (PROMs) have been developed to assess knee-related function following injury; however, there is limited data investigating the measurement properties of these instruments using Rasch model analyses. Objective: To evaluate the measurement properties of several PROMs through application of the Rasch measurement model . Design: Crosssectional study . Setting: Clinical setting. atients or Other Participants: A convenience sample of 160 adults (mean age = 28.08 [10.95] y; male = 38.10%) were recruited for this study. Data collected were combined with existing pilot data from an earlier study containing de-identified Knee Injury and Osteoarthritis Outcome Score (KOOS) data from 79 adults with knee injuries resulting in a total sample size of 239 adults . Intervention(s) Psychometric evaluation of the KOOS, International Knee Documentation Committee subjective knee form, and the Marx Activity Rating Scale using the Rasch partial credit model. Main Outcome Measures : Infit and outfit statistics, item step difficulties, person ability parameters, category function, and item and test information functions. Results : Large ceiling effects were present in the KOOS and International Knee Documentation Committee subjective knee form. Of the 65 items examined in this study, 35 items showed poor measurement properties. Item step difficulty for the remaining 30 items ranged from -5.45 (least difficult) to 0.57 logits (most difficult). The 5-category response options did not function well. Measurement precision decreased significantly as ability score increased beyond 0.30 logits. Conclusions: Despite their use in clinical practice. several items showed poor measurement properties. Future studies are needed to develop and evaluate novel items that are suitable for measuring knee-related function in high-functioning populations to ensure continuity of PROMs as individuals recover from injuries. [ABSTRACT FROM AUTHOR]

Published
2021
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44. A human iPSC-array-based GWAS identifies a virus susceptibility locus in the NDUFA4 gene and functional variants

Author

Han, Yuling, primary, Tan, Lei, additional, Zhou, Ting, additional, Yang, Liuliu, additional, Carrau, Lucia, additional, Lacko, Lauretta A., additional, Saeed, Mohsan, additional, Zhu, Jiajun, additional, Zhao, Zeping, additional, Nilsson-Payant, Benjamin E., additional, Lira Neto, Filipe Tenorio, additional, Cahir, Clare, additional, Giani, Alice Maria, additional, Chai, Jin Chou, additional, Li, Yang, additional, Dong, Xue, additional, Moroziewicz, Dorota, additional, Paull, Daniel, additional, Zhang, Tuo, additional, Koo, Soyeon, additional, Tan, Christina, additional, Danziger, Ron, additional, Ba, Qian, additional, Feng, Lingling, additional, Chen, Zhengming, additional, Zhong, Aaron, additional, Wise, Gilbert J., additional, Xiang, Jenny Z., additional, Wang, Hui, additional, Schwartz, Robert E., additional, tenOever, Benjamin R., additional, Noggle, Scott A., additional, Rice, Charles M., additional, Qi, Qibin, additional, Evans, Todd, additional, and Chen, Shuibing, additional

Published
2022
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47. A targetable pathway to eliminate TRA-1-60+/TRA-1-81+ chemoresistant cancer cells.

Author

Tan, Lei, Duan, Xiaohua, Mutyala, Pratyusha, Zhou, Ting, Amin, Sadaf, Zhang, Tuo, Herbst, Brian, Askan, Gokce, Itkin, Tomer, Xiang, Zhaoying, Michelassi, Fabrizio, Lieberman, Michael D, Iacobuzio-Donahue, Christine A, Leach, Steven D, Evans, Todd, and Chen, Shuibing

Abstract

Chemoresistance is a primary cause of treatment failure in pancreatic cancer. Identifying cell surface markers specifically expressed in chemoresistant cancer cells (CCCs) could facilitate targeted therapies to overcome chemoresistance. We performed an antibody-based screen and found that TRA-1-60 and TRA-1-81, two 'stemness' cell surface markers, are highly enriched in CCCs. Furthermore, TRA-1-60+/TRA-1-81+ cells are chemoresistant compared to TRA-1-60–/TRA-1-81– cells. Transcriptome profiling identified UGT1A10 , shown to be both necessary and sufficient to maintain TRA-1-60/TRA-1-81 expression and chemoresistance. From a high-content chemical screen, we identified Cymarin, which downregulates UGT1A10 , eliminates TRA-1-60/TRA-1-81 expression, and increases chemosensitivity both in vitro and in vivo. Finally, TRA-1-60/TRA-1-81 expression is highly specific in primary cancer tissue and positively correlated with chemoresistance and short survival, which highlights their potentiality for targeted therapy. Therefore, we discovered a novel CCC surface marker regulated by a pathway that promotes chemoresistance, as well as a leading drug candidate to target this pathway. [ABSTRACT FROM AUTHOR]

Published
2023
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50. Lipids Maintain Genomic Stability and Developmental Potency of Murine Pluripotent Stem Cells

Author

Zhong, Liangwen, primary, Gordillo, Miriam, additional, Wang, Xingyi, additional, Qin, Yiren, additional, Huang, Yuanyuan, additional, Soshnev, Alexey, additional, Kumar, Ritu, additional, Nanjangud, Gouri, additional, James, Daylon, additional, Allis, C. David, additional, Evans, Todd, additional, Carey, Bryce, additional, and Wen, Duancheng, additional

Published
2022
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