Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression-Reference-Cited by-同舟云学术

Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression

Published:2010-04-06 Issue:6 Volume:31 Page:722-733
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Zweier Markus,Gregor Anne,Zweier Christiane,Engels Hartmut,Sticht Heinrich,Wohlleber Eva,Bijlsma Emilia K.,Holder Susan E.,Zenker Martin,Rossier Eva,Grasshoff Ute,Johnson Diana S.,Robertson Lisa,Firth Helen V.,Cornelia Kraus ,Ekici Arif B.,Reis André,Rauch Anita

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference42 articles.

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3. FOXG1 is responsible for the congenital variant of Rett syndrome;Ariani;Am J Hum Genet,2008

4. MEF2C, a transcription factor that facilitates learning and memory by negative regulation of synapse numbers and function;Barbosa;Proc Natl Acad Sci USA,2008

5. Nonsense but not missense mutations can decrease the abundance of nuclear mRNA for the mouse major urinary protein, while both types of mutations can facilitate exon skipping;Belgrader;Mol Cell Biol,1994

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