PMC Links for Gene (Select 203190) - PMC

Select item 95020701.

A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode

Dana Marafi, Nina Kozar, Ruizhi Duan, Stephen Bradley, Kenji Yokochi, Fuad Al Mutairi, Nebal Waill Saadi, Sandra Whalen, Theresa Brunet, Urania Kotzaeridou, Daniela Choukair, Boris Keren, Caroline Nava, Mitsuhiro Kato, Hiroshi Arai, Tawfiq Froukh, Eissa Ali Faqeih, Ali M. AlAsmari, Mohammed M. Saleh, Filippo Pinto e Vairo, Pavel N. Pichurin, Eric W. Klee, Christopher T. Schmitz, Christopher M. Grochowski, Tadahiro Mitani, Isabella Herman, Daniel G. Calame, Jawid M. Fatih, Haowei Du, Zeynep Coban-Akdemir, Davut Pehlivan, Shalini N. Jhangiani, Richard A. Gibbs, Satoko Miyatake, Naomichi Matsumoto, Laura J. Wagstaff, Jennifer E. Posey, James R. Lupski, Dies Meijer, Matias Wagner

Am J Hum Genet. 2022 Sep 1; 109(9): 1713–1723. Published online 2022 Aug 9. doi: 10.1016/j.ajhg.2022.07.006

PMCID:: PMC9502070

Abstract Article PDF–2.4M

Select item 39176052.

Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci

Daphna Weissglas-Volkov, Carlos A. Aguilar-Salinas, Elina Nikkola, Kerry A. Deere, Ivette Cruz-Bautista, Olimpia Arellano-Campos, Linda Liliana Muñoz-Hernandez, Lizeth Gomez-Munguia, Maria Luisa Ordoñez-Sánchez, Prasad MV Linga Reddy, Aldons J. Lusis, Niina Matikainen, Marja-Riitta Taskinen, Laura Riba, Rita M. Cantor, Janet S. Sinsheimer, Teresa Tusie-Luna, Päivi Pajukanta

J Med Genet. Author manuscript; available in PMC 2014 May 1.

Published in final edited form as: J Med Genet. 2013 May; 50(5): 298–308. Published online 2013 Mar 15. doi: 10.1136/jmedgenet-2012-101461

PMCID:: PMC3917605

Abstract Article PDF–575K

Select item 4036973.

The Secreted Protein Discovery Initiative (SPDI), a Large-Scale Effort to Identify Novel Human Secreted and Transmembrane Proteins: A Bioinformatics Assessment

Hilary F. Clark, Austin L. Gurney, Evangeline Abaya, Kevin Baker, Daryl Baldwin, Jennifer Brush, Jian Chen, Bernard Chow, Clarissa Chui, Craig Crowley, Bridget Currell, Bethanne Deuel, Patrick Dowd, Dan Eaton, Jessica Foster, Christopher Grimaldi, Qimin Gu, Philip E. Hass, Sherry Heldens, Arthur Huang, Hok Seon Kim, Laura Klimowski, Yisheng Jin, Stephanie Johnson, James Lee, Lhney Lewis, Dongzhou Liao, Melanie Mark, Edward Robbie, Celina Sanchez, Jill Schoenfeld, Somasekar Seshagiri, Laura Simmons, Jennifer Singh, Victoria Smith, Jeremy Stinson, Alicia Vagts, Richard Vandlen, Colin Watanabe, David Wieand, Kathryn Woods, Ming-Hong Xie, Daniel Yansura, Sothy Yi, Guoying Yu, Jean Yuan, Min Zhang, Zemin Zhang, Audrey Goddard, William I. Wood, Paul Godowski

Genome Res. 2003 Oct; 13(10): 2265–2270. doi: 10.1101/gr.1293003

Correction in:: Genome Res. 2003 Dec; 13(12): 2759.

PMCID:: PMC403697

Abstract Article PDF–120K

Select item 93485764.

Chr21 protein–protein interactions: enrichment in proteins involved in intellectual disability, autism, and late-onset Alzheimer’s disease

Julia Viard, Yann Loe-Mie, Rachel Daudin, Malik Khelfaoui, Christine Plancon, Anne Boland, Francisco Tejedor, Richard L Huganir, Eunjoon Kim, Makoto Kinoshita, Guofa Liu, Volker Haucke, Thomas Moncion, Eugene Yu, Valérie Hindie, Henri Bléhaut, Clotilde Mircher, Yann Herault, Jean-François Deleuze, Jean-Christophe Rain, Michel Simonneau, Aude-Marie Lepagnol-Bestel

Life Sci Alliance. 2022 Dec; 5(12): e202101205. Published online 2022 Aug 1. doi: 10.26508/lsa.202101205