PMC Links for Gene (Select 4761) - PMC

Select item 106344301.

NEUROD2 function is dispensable for human pancreatic β cell specification

Perla Cota, Lama Saber, Damla Taskin, Changying Jing, Aimée Bastidas-Ponce, Matthew Vanheusden, Alireza Shahryari, Michael Sterr, Ingo Burtscher, Mostafa Bakhti, Heiko Lickert

Front Endocrinol (Lausanne) 2023; 14: 1286590. Published online 2023 Oct 25. doi: 10.3389/fendo.2023.1286590

PMCID:: PMC10634430

Abstract Article PDF–3.7M

Select item 82124142.

An expansion of NEUROD2 phenotypes to include developmental delay without seizures

Emily K. Mis, Annalisa G. Sega, Rebecca H. Signer, Tracy Cartwright, Weizhen Ji, Julian A. Martinez-Agosto, Stanley F. Nelson, Christina G. S. Palmer, Hane Lee, Thomas Mitzelfelt, Monica Konstantino, Undiagnosed Diseases Network, Lauren Jeffries, Mustafa K. Khokha, Elysa Marco, Martin G. Martin, Saquib A. Lakhani

Am J Med Genet A. Author manuscript; available in PMC 2022 Apr 1.

Published in final edited form as: Am J Med Genet A. 2021 Apr; 185(4): 1076–1080. Published online 2021 Jan 13. doi: 10.1002/ajmg.a.62064

PMCID:: PMC8212414

Abstract Article PDF–519K

Select item 34720903.

Novel neurodevelopmental information revealed in amniotic fluid supernatant transcripts from fetuses with trisomies 18 and 21

Lisa Hui, Donna K. Slonim, Heather C. Wick, Kirby L. Johnson, Keiko Koide, Diana W. Bianchi

Hum Genet. Author manuscript; available in PMC 2013 Nov 1.

Published in final edited form as: Hum Genet. 2012 Nov; 131(11): 1751–1759. Published online 2012 Jul 3. doi: 10.1007/s00439-012-1195-x

PMCID:: PMC3472090

Abstract Article PDF–754K

Select item 2315804.

NeuroD2 and neuroD3: distinct expression patterns and transcriptional activation potentials within the neuroD gene family.

M B McCormick, R M Tamimi, L Snider, A Asakura, D Bergstrom, S J Tapscott

Mol Cell Biol. 1996 Oct; 16(10): 5792–5800. doi: 10.1128/mcb.16.10.5792

PMCID:: PMC231580

Summary PDF–613K

Select item 87600615.

Disruption of NEUROD2 causes a neurodevelopmental syndrome with autistic features via cell-autonomous defects in forebrain glutamatergic neurons

Karen Runge, Rémi Mathieu, Stéphane Bugeon, Sahra Lafi, Corinne Beurrier, Surajit Sahu, Fabienne Schaller, Arthur Loubat, Leonard Herault, Stéphane Gaillard, Emilie Pallesi-Pocachard, Aurélie Montheil, Andreas Bosio, Jill A. Rosenfeld, Eva Hudson, Kristin Lindstrom, Saadet Mercimek-Andrews, Lauren Jeffries, Arie van Haeringen, Olivier Vanakker, Audrey Van Hecke, Dina Amrom, Sebastien Küry, Chana Ratner, Reena Jethva, Candace Gamble, Bernard Jacq, Laurent Fasano, Gabriel Santpere, Belen Lorente-Galdos, Nenad Sestan, Antoinette Gelot, Sylvie Giacuzz, Sandra Goebbels, Alfonso Represa, Carlos Cardoso, Harold Cremer, Antoine de Chevigny

Mol Psychiatry. 2021; 26(11): 6125–6148. Published online 2021 Jun 29. doi: 10.1038/s41380-021-01179-x

Correction in:: Mol Psychiatry. 2021; 26(12): 7852.

PMCID:: PMC8760061

Abstract Article PDF–5.3M

Select item 23607596.

HapMap-based study of the 17q21 ERBB2 amplicon in susceptibility to breast cancer

P R Benusiglio, P D Pharoah, P L Smith, F Lesueur, D Conroy, R N Luben, G Dew, C Jordan, A Dunning, D F Easton, B A J Ponder

Br J Cancer. 2006 Dec 18; 95(12): 1689–1695. Published online 2006 Nov 21. doi: 10.1038/sj.bjc.6603473

PMCID:: PMC2360759

Abstract Article PDF–114K

Select item 26550777.

Common Genetic Variation in Candidate Genes and Susceptibility to Sub-types of Breast Cancer

Nasim Mavaddat, Alison M Dunning, Bruce AJ Ponder, Douglas F Easton, Paul D Pharoah

Cancer Epidemiol Biomarkers Prev. Author manuscript; available in PMC 2009 Jul 1.

Published in final edited form as: Cancer Epidemiol Biomarkers Prev. 2009 Jan; 18(1): 255–259. doi: 10.1158/1055-9965.EPI-08-0704

PMCID:: PMC2655077

Abstract Article PDF–791K

Select item 80090488.

Impact of cytosine methylation on DNA binding specificities of human transcription factors

Yimeng Yin, Ekaterina Morgunova, Arttu Jolma, Eevi Kaasinen, Biswajyoti Sahu, Syed Khund-Sayeed, Pratyush K. Das, Teemu Kivioja, Kashyap Dave, Fan Zhong, Kazuhiro R. Nitta, Minna Taipale, Alexander Popov, Paul A. Ginno, Silvia Domcke, Jian Yan, Dirk Schübeler, Charles Vinson, Jussi Taipale

Science. Author manuscript; available in PMC 2021 Mar 30.

Published in final edited form as: Science. 2017 May 5; 356(6337): eaaj2239. doi: 10.1126/science.aaj2239

PMCID:: PMC8009048

Abstract Article PDF–2.6M

Select item 93485769.

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