PMC Links for Nucleotide (Select 1676318083) - PMC

Select item 62617991.

PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic features

Raida Khalil, Connor Kenny, R. Sean Hill, Ganeshwaran H. Mochida, Ramzi H. Nasir, Jennifer N. Partlow, Brenda J. Barry, Muna Al-Saffar, Chloe Egan, Christine R. Stevens, Stacey B. Gabriel, A. James Barkovich, Jay W. Ellison, Lihadh Al-Gazali, Christopher A. Walsh, Maria H. Chahrour

Am J Med Genet B Neuropsychiatr Genet. Author manuscript; available in PMC 2019 Dec 1.

Published in final edited form as: Am J Med Genet B Neuropsychiatr Genet. 2018 Dec; 177(8): 736–745. Published online 2018 Nov 13. doi: 10.1002/ajmg.b.32688

PMCID:: PMC6261799

Abstract Article PDF–652K

Select item 55316112.

Architecture of the human interactome defines protein communities and disease networks

Edward L. Huttlin, Raphael J. Bruckner, Joao A. Paulo, Joe R. Cannon, Lily Ting, Kurt Baltier, Greg Colby, Fana Gebreab, Melanie P. Gygi, Hannah Parzen, John Szpyt, Stanley Tam, Gabriela Zarraga, Laura Pontano-Vaites, Sharan Swarup, Anne E. White, Devin K. Schweppe, Ramin Rad, Brian K. Erickson, Robert A. Obar, K.G. Guruharsha, Kejie Li, Spyros Artavanis-Tsakonas, Steven P. Gygi, J. Wade Harper

Nature. Author manuscript; available in PMC 2017 Nov 17.

Published in final edited form as: Nature. 2017 May 25; 545(7655): 505–509. Published online 2017 May 17. doi: 10.1038/nature22366

PMCID:: PMC5531611

Abstract Article PDF–2.7M

Select item 52946713.

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

Sébastien Küry, Thomas Besnard, Frédéric Ebstein, Tahir N. Khan, Tomasz Gambin, Jessica Douglas, Carlos A. Bacino, Stephan J. Sanders, Andrea Lehmann, Xénia Latypova, Kamal Khan, Mathilde Pacault, Stephanie Sacharow, Kimberly Glaser, Eric Bieth, Laurence Perrin-Sabourin, Marie-Line Jacquemont, Megan T. Cho, Elizabeth Roeder, Anne-Sophie Denommé-Pichon, Kristin G. Monaghan, Bo Yuan, Fan Xia, Sylvain Simon, Dominique Bonneau, Philippe Parent, Brigitte Gilbert-Dussardier, Sylvie Odent, Annick Toutain, Laurent Pasquier, Deborah Barbouth, Chad A. Shaw, Ankita Patel, Janice L. Smith, Weimin Bi, Sébastien Schmitt, Wallid Deb, Mathilde Nizon, Sandra Mercier, Marie Vincent, Caroline Rooryck, Valérie Malan, Ignacio Briceño, Alberto Gómez, Kimberly M. Nugent, James B. Gibson, Benjamin Cogné, James R. Lupski, Holly A.F. Stessman, Evan E. Eichler, Kyle Retterer, Yaping Yang, Richard Redon, Nicholas Katsanis, Jill A. Rosenfeld, Peter-Michael Kloetzel, Christelle Golzio, Stéphane Bézieau, Paweł Stankiewicz, Bertrand Isidor

Am J Hum Genet. 2017 Feb 2; 100(2): 352–363. Published online 2017 Jan 26. doi: 10.1016/j.ajhg.2017.01.003

Correction in:: Am J Hum Genet. 2017 Apr 6; 100(4): 689.

PMCID:: PMC5294671

Abstract Article PDF–1.8M

Select item 48821904.

Widespread expansion of protein interaction capabilities by alternative splicing

Xinping Yang, Jasmin Coulombe-Huntington, Shuli Kang, Gloria M. Sheynkman, Tong Hao, Aaron Richardson, Song Sun, Fan Yang, Yun A. Shen, Ryan R. Murray, Kerstin Spirohn, Bridget E. Begg, Miquel Duran-Frigola, Andrew MacWilliams, Samuel J. Pevzner, Quan Zhong, Shelly A. Wanamaker, Stanley Tam, Lila Ghamsari, Nidhi Sahni, Song Yi, Maria D. Rodriguez, Dawit Balcha, Guihong Tan, Michael Costanzo, Brenda Andrews, Charles Boone, Xianghong J. Zhou, Kourosh Salehi-Ashtiani, Benoit Charloteaux, Alyce A. Chen, Michael A. Calderwood, Patrick Aloy, Frederick P. Roth, David E. Hill, Lilia M. Iakoucheva, Yu Xia, Marc Vidal

Cell. Author manuscript; available in PMC 2017 Feb 11.

Published in final edited form as: Cell. 2016 Feb 11; 164(4): 805–817. doi: 10.1016/j.cell.2016.01.029

PMCID:: PMC4882190

Abstract Article PDF–1.9M

Select item 44512435.

Identification of Novel Proteins Co-Purifying with Cockayne Syndrome Group B (CSB) Reveals Potential Roles for CSB in RNA Metabolism and Chromatin Dynamics

Serena Nicolai, Silvia Filippi, Manuela Caputo, Lubos Cipak, Juraj Gregan, Gustav Ammerer, Mattia Frontini, Daniela Willems, Giorgio Prantera, Adayabalam S. Balajee, Luca Proietti-De-Santis

PLoS One. 2015; 10(6): e0128558. Published online 2015 Jun 1. doi: 10.1371/journal.pone.0128558

PMCID:: PMC4451243

Abstract Article PDF–2.6M

Select item 1106086.

An Endogenous Inhibitor of Human Immunodeficiency Virus in Human Lymphocytes Is Overcome by the Viral Vif Protein

Navid Madani, David Kabat

J Virol. 1998 Dec; 72(12): 10251–10255. doi: 10.1128/jvi.72.12.10251-10255.1998

PMCID:: PMC110608

Abstract Article PDF–1.3M

Select item 41142627.

HumanViCe: host ceRNA network in virus infected cells in human

Suman Ghosal, Shaoli Das, Rituparno Sen, Jayprokas Chakrabarti

Front Genet. 2014; 5: 249. Published online 2014 Jul 29. doi: 10.3389/fgene.2014.00249

PMCID:: PMC4114262

Abstract Article PDF–4.0M

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