TU12. COPY NUMBER VARIATION (CNV) IN AUTISM SPECTRUM DISORDERS (ASD) AND CO-OCCURRING EPILEPSY

Autor: Maite La Vega-Talbott, Steven M. Wolf, Eline Koornstra, Judson Belmont, Juliana Laze, Lara V. Marcuse, Christina Layton, Evi Hadjimichael, Madeline C. Fields, Patricia E. McGoldrick, Munazza Malik, Dalila Pinto, Alexander Kolevzon, Orrin Devinsky, Byron Ramirez

Publikováno v: European Neuropsychopharmacology. 51:e100

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::04ff92a2091b2b56a73df6c336c00d71
https://doi.org/10.1016/j.euroneuro.2021.08.015

A PLC-γ1 Feedback Pathway Regulates Lck Substrate Phosphorylation at the T-Cell Receptor and SLP-76 Complex

Autor: Tao Gu, Judson Belmont, Arthur R. Salomon, Ashley Marie Mudd

Publikováno v: Journal of Proteome Research. 16:2729-2742

Phospholipase C gamma 1 (PLC-γ1) occupies a critically important position in the T cell signaling pathway. While its functions as a regulator of both Ca2+ signaling and PKC-family kinases are well characterized, PLC-γ1’s role in the regulation of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::701a6ee7290154cc1ce8d56d1c613898
https://doi.org/10.1021/acs.jproteome.6b01026

Revealing the brain's molecular architecture

Autor: Alexey Kozlenkov, Elizabeth Zharovsky, Tyler M. Borrman, Annie W. Shieh, Harm van Bakel, Leonardo Collado-Torres, Yi Jiang, Dominic Fitzgerald, Patrick F. Sullivan, Prashant Emani, Yooree Chae, David A. Lewis, Mo Yang, Joo Heon Shin, Zhen Li, A. Jeremy Willsey, Thomas G. Beach, Robert R. Kitchen, Shannon Schreiner, Barbara K. Lipska, Mingming Niu, Gabriel E. Hoffman, Michael J. Purcaro, Alexander W. Charney, Olivia Devillers, Zhiping Weng, Stephen Sanders, Diane DelValle, Adrian Camarena, Lingyun Song, Fernando S. Goes, Becky C. Carlyle, Nenad Sestan, Valeria N. Spitsyna, Nikolay A. Ivanov, Tarik Hadzic, Lijun Cheng, Peter P. Zandi, Rivka Jacobov, Mimi Brown, Flora M. Vaccarino, Ran Tao, Chang-Gyu Hahn, Mark Gerstein, Soraya Scuderi, Adriana Cherskov, Matthew W. State, Thomas M. Hyde, Kevin P. White, Daifeng Wang, Mario Skarica, Maree J. Webster, Marija Kundakovic, Jennifer R Wiseman, Dalila Pinto, Nancy Francoeur, Alexej Abyzov, Xu Shi, Mohana Ray, Eugenio Mattei, Anna Szekely, Jill Moore, Damon Polioudakis, Allison E. Ashley-Koch, Daniel J. Miller, Jing Zhang, Royce B. Park, Tianliuyun Gao, Donna M. Werling, Patrick Sullivan, Gabriel Santpere, Paola Giusti-Rodríguez, Kay Grennan, Chao Chen, Sirisha Pochareddy, Shuang Liu, Sherman M. Weissman, Joel E. Kleiman, Kiran Girdhar, Leanne Brown, Angus C. Nairn, Mingfeng Li, Heather Witt, Anahita Amiri, Judson Belmont, André M. M. Sousa, Elie Flatow, Lara M. Mangravite, Ying Zhu, Joon Yong An, Amanda J. Price, Mette A. Peters, Melanie E. Garrett, Vivek Swarup, Declan Clarke, Jaroslav Bendl, Oleg V. Evgrafov, Luis de la Torre Ubieta, Alexias Safi, Amira Kefi, Gamze Gürsoy, Majd Alsayed, Xusheng Wang, Jin P. Szatkiewicz, Yunjung Kim, Miguel Brown, Michael J. Gandal, Yongjun Wang, Jinmyung Choi, Tonya M. Brunetti, Yucheng T. Yang, Christoper Armoskus, Brooke Sheppard, Gianfilippo Coppola, Tanmoy Roychowdhury, Timothy E. Reddy, Chunyu Liu, Jack Huey, Mads E. Hauberg, Feinan Wu, Evi Hadjimichael, Peggy J. Farnham, Julien Bryois, Henry S. Pratt, Brie Wamsley, Fabio C. P. Navarro, Graham D. Johnson, Jonathan Warrell, Stella Dracheva, Suhn K. Rhie, Min Xu, Gregory A. Wray, Bibi Kassim, Thomas Goodman, Rujia Dai, Hyejung Won, Junmin Peng, Gregory E. Crawford, Ramu Vadukapuram, Andrew E. Jaffe, Emily E. Burke, Daniel H. Geschwind, James A. Knowles, Gina Giase, Jessica Mariani, Yan Xia, Panos Roussos, Mengting Gu, Jiani Yin, Vahram Haroutunian, John F. Fullard, Schahram Akbarian, Yan Jiang

Publikováno v: Science. 362:1262-1263

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::8634734a43a6427468491959df1627a9
https://doi.org/10.1126/science.362.6420.1262

Genetic Variation and RNA Binding Proteins: Tools and Techniques to Detect Functional Polymorphisms

Autor: Rachel Soemedi, William G. Fairbrother, Judson Belmont, Sohini Ramachandran, Hugo Vega

Publikováno v: Systems Biology of RNA Binding Proteins ISBN: 9781493912209

At its most fundamental level the goal of genetics is to connect genotype to phenotype. This question is asked at a basic level evaluating the role of genes and pathways in genetic model organism. Increasingly, this question is being asked in the cli

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::715f3ab65ea3aac0467b14d0be702c76
https://doi.org/10.1007/978-1-4939-1221-6_7