PMC Links for Nucleotide (Select 1677530019) - PMC

Select item 63813111.

A neuronal enhancer network upstream of MEF2C is compromised in patients with Rett-like characteristics

Eva D’haene, Reut Bar-Yaacov, Inbar Bariah, Lies Vantomme, Sien Van Loo, Francisco Avila Cobos, Karen Verboom, Reut Eshel, Rawan Alatawna, Björn Menten, Ramon Y Birnbaum, Sarah Vergult

Hum Mol Genet. 2019 Mar 1; 28(5): 818–827. Published online 2018 Nov 15. doi: 10.1093/hmg/ddy393

Correction in:: Hum Mol Genet. 2020 Mar 1; 29(5): 879–880.

PMCID:: PMC6381311

Abstract Article PDF–2.4M

Select item 62080862.

Novel MEF2C point mutations in Chinese patients with Rett (−like) syndrome or non-syndromic intellectual disability: insights into genotype-phenotype correlation

Jiaping Wang, Qingping Zhang, Yan Chen, Shujie Yu, Xiru Wu, Xinhua Bao, Yongxin Wen

BMC Med Genet. 2018; 19: 191. Published online 2018 Oct 30. doi: 10.1186/s12881-018-0699-1

PMCID:: PMC6208086

Abstract Article PDF–816K

Select item 28488403.

MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations

Nathalie Le Meur, Muriel Holder-Espinasse, Sylvie Jaillard, Alice Goldenberg, Sylvie Joriot, Patrizia Amati-Bonneau, Agnès Guichet, Magalie Barth, Aude Charollais, Hubert Journel, Stéphane Auvin, Cécile Boucher, Jean-Pierre Kerckaert, Véronique David, Sylvie Manouvrier-Hanu, Pascale Saugier-Veber, Thierry Frébourg, Christèle Dubourg, Joris Andrieux, Dominique Bonneau

J Med Genet. Author manuscript; available in PMC 2011 Jan 1.

Published in final edited form as: J Med Genet. 2010 Jan; 47(1): 22–29. Published online 2009 Jul 9. doi: 10.1136/jmg.2009.069732

PMCID:: PMC2848840

Abstract Article

Select item 5150344.

Phosphorylation and Alternative Pre-mRNA Splicing Converge To Regulate Myocyte Enhancer Factor 2C Activity

Bangmin Zhu, Tod Gulick

Mol Cell Biol. 2004 Sep; 24(18): 8264–8275. doi: 10.1128/MCB.24.18.8264-8275.2004

PMCID:: PMC515034

Abstract Article PDF–522K

Select item 3595885.

hMEF2C gene encodes skeletal muscle- and brain-specific transcription factors.

J C McDermott, M C Cardoso, Y T Yu, V Andres, D Leifer, D Krainc, S A Lipton, B Nadal-Ginard

Mol Cell Biol. 1993 Apr; 13(4): 2564–2577. doi: 10.1128/mcb.13.4.2564

PMCID:: PMC359588

Summary Page Browse PDF–3.9M

Select item 459116.

MEF2C, a MADS/MEF2-family transcription factor expressed in a laminar distribution in cerebral cortex.

D Leifer, D Krainc, Y T Yu, J McDermott, R E Breitbart, J Heng, R L Neve, B Kosofsky, B Nadal-Ginard, S A Lipton

Proc Natl Acad Sci U S A. 1993 Feb 15; 90(4): 1546–1550. doi: 10.1073/pnas.90.4.1546

PMCID:: PMC45911

Summary Page Browse PDF–1.5M

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