PMC Links for Gene (Select 311026) - PMC

Select item 47564761.

Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities

Jennelle C. Hodge, Elyse Mitchell, Vamsee Pillalamarri, Tomi L. Toler, Frank Bartel, Hutton M. Kearney, Ying S. Zou, Wen-Hann Tan, Carrie Hanscom, Salman Kirmani, Rae R. Hanson, Steven A. Skinner, Curtis Rogers, David B. Everman, Ellen Boyd, Sureni V. Mullegama, Debra Keelean-Fuller, Cynthia M. Powell, Sarah H. Elsea, Cynthia C. Morton, James F. Gusella, Barbara DuPont, Alka Chaubey, Angela E. Lin, Michael E. Talkowski

Mol Psychiatry. Author manuscript; available in PMC 2016 Feb 17.

Published in final edited form as: Mol Psychiatry. 2014 Mar; 19(3): 368–379. Published online 2013 Apr 16. doi: 10.1038/mp.2013.42

PMCID:: PMC4756476

Abstract Article PDF–1.4M

Select item 47552342.

The methyl binding domain containing protein MBD5 is a transcriptional regulator responsible for 2q23.1 deletion syndrome

Katherina Walz, Juan I Young

Rare Dis. 2014; 2(1): e967151. Published online 2014 Nov 3. doi: 10.4161/2167549X.2014.967151

PMCID:: PMC4755234

Abstract Article PDF–185K

Select item 38654023.

Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder

Sureni V Mullegama, Jill A Rosenfeld, Carmen Orellana, Bregje W M van Bon, Sara Halbach, Elena A Repnikova, Lauren Brick, Chumei Li, Lucie Dupuis, Monica Rosello, Swaroop Aradhya, D James Stavropoulos, Kandamurugu Manickam, Elyse Mitchell, Jennelle C Hodge, Michael E Talkowski, James F Gusella, Kory Keller, Jonathan Zonana, Stuart Schwartz, Robert E Pyatt, Darrel J Waggoner, Lisa G Shaffer, Angela E Lin, Bert B A de Vries, Roberto Mendoza-Londono, Sarah H Elsea

Eur J Hum Genet. 2014 Jan; 22(1): 57–63. Published online 2013 May 1. doi: 10.1038/ejhg.2013.67

PMCID:: PMC3865402

Abstract Article PDF–843K

Select item 38310654.

Extended spectrum of MBD5 mutations in neurodevelopmental disorders

Céline Bonnet, Asma Ali Khan, Emmanuel Bresso, Charlène Vigouroux, Mylène Béri, Sarah Lejczak, Bénédicte Deemer, Joris Andrieux, Christophe Philippe, Anne Moncla, Irina Giurgea, Marie-Dominique Devignes, Bruno Leheup, Philippe Jonveaux

Eur J Hum Genet. 2013 Dec; 21(12): 1457–1461. Published online 2013 Feb 20. doi: 10.1038/ejhg.2013.22

PMCID:: PMC3831065

Abstract Article PDF–1.2M

Select item 34718305.

The Essential Role of Mbd5 in the Regulation of Somatic Growth and Glucose Homeostasis in Mice

Yarui Du, Bo Liu, Fan Guo, Guifang Xu, Yuqiang Ding, Yong Liu, Xin Sun, Guoliang Xu

PLoS One. 2012; 7(10): e47358. Published online 2012 Oct 15. doi: 10.1371/journal.pone.0047358

PMCID:: PMC3471830

Abstract Article PDF–665K

Select item 29173646.

The Human Proteins MBD5 and MBD6 Associate with Heterochromatin but They Do Not Bind Methylated DNA

Sophie Laget, Michael Joulie, Florent Le Masson, Nobuhiro Sasai, Elisabeth Christians, Sriharsa Pradhan, Richard J. Roberts, Pierre-Antoine Defossez

PLoS One. 2010; 5(8): e11982. Published online 2010 Aug 6. doi: 10.1371/journal.pone.0011982

PMCID:: PMC2917364

Abstract Article PDF–1.5M

Select item 35287987.

The Expanding Role of MBD Genes in Autism: Identification of a MECP2 Duplication and Novel Alterations in MBD5, MBD6, and SETDB1

Holly N. Cukier, Joycelyn M. Lee, Deqiong Ma, Juan I. Young, Vera Mayo, Brittany L. Butler, Sandhya S. Ramsook, Joseph A. Rantus, Alexander J. Abrams, Patrice L. Whitehead, Harry H. Wright, Ruth K. Abramson, Jonathan L. Haines, Michael L. Cuccaro, Margaret A. Pericak-Vance, John R. Gilbert

Autism Res. Author manuscript; available in PMC 2013 Dec 1.

Published in final edited form as: Autism Res. 2012 Dec; 5(6): 385–397. Published online 2012 Oct 10. doi: 10.1002/aur.1251

PMCID:: PMC3528798

Abstract Article PDF–1.8M

Select item 26370508.

Large-Scale Proteomics and Phosphoproteomics of Urinary Exosomes

Patricia A. Gonzales, Trairak Pisitkun, Jason D. Hoffert, Dmitry Tchapyjnikov, Robert A. Star, Robert Kleta, Nam Sun Wang, Mark A. Knepper

J Am Soc Nephrol. 2009 Feb; 20(2): 363–379. doi: 10.1681/ASN.2008040406

PMCID:: PMC2637050

Abstract Article

Select item 1392419.

Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences

Mammalian Gene Collection (MGC) Program Team

Proc Natl Acad Sci U S A. 2002 Dec 24; 99(26): 16899–16903. Published online 2002 Dec 11. doi: 10.1073/pnas.242603899

PMCID:: PMC139241

Abstract Article PDF–118K

Select item 317805910.

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas

Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042

PMCID:: PMC3178059

Abstract Article PDF–1.0M

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