Literature DB >> 10826991

Methyl-CpG-binding protein 2 mutations in Rett syndrome.

I B Van den Veyver1, H Y Zoghbi.   

Abstract

The X-linked methyl-CpG-binding protein 2 gene (MECP2) encodes a protein that links DNA methylation to transcriptional repression mediated by histone deacetylases. Mutations in MECP2 have been found in 76% of classic Rett syndrome patients. Favourable nonrandom X chromosome inactivation ameliorates the phenotype.

Entities:  

Mesh：

Substances：

Year:  2000        PMID： 10826991     DOI： 10.1016/s0959-437x(00)00083-6

Source DB:  PubMed          Journal:  Curr Opin Genet Dev        ISSN： 0959-437X            Impact factor:   5.578


  35 in total

Review 1.  Genetic insights into schizophrenia.

Authors:  A S Bassett; E W Chow; D M Waterworth; L Brzustowicz
Journal:  Can J Psychiatry       Date:  2001-03       Impact factor: 4.356

Review 2.  Rett syndrome and the MECP2 gene.

Authors:  T Webb; F Latif
Journal:  J Med Genet       Date:  2001-04       Impact factor: 6.318

3.  Functional consequences of Rett syndrome mutations on human MeCP2.

Authors:  T M Yusufzai; A P Wolffe
Journal:  Nucleic Acids Res       Date:  2000-11-01       Impact factor: 16.971

Review 4.  Above and within the genome: epigenetics past and present.

Authors:  F D Urnov; A P Wolffe
Journal:  J Mammary Gland Biol Neoplasia       Date:  2001-04       Impact factor: 2.673

5.  Methylation-dependent silencing at the H19 imprinting control region by MeCP2.

Authors:  Robert A Drewell; Carolyn J Goddard; Jean O Thomas; M Azim Surani
Journal:  Nucleic Acids Res       Date:  2002-03-01       Impact factor: 16.971

6.  Segregation of a totally skewed pattern of X chromosome inactivation in four familial cases of Rett syndrome without MECP2 mutation: implications for the disease.

Authors:  L Villard; N Lévy; F Xiang; A Kpebe; V Labelle; C Chevillard; Z Zhang; C E Schwartz; M Tardieu; J Chelly; M Anvret; M Fontès
Journal:  J Med Genet       Date:  2001-07       Impact factor: 6.318

Review 7.  DNA modifications and neurological disorders.

Authors:  Yi-Lan Weng; Ran An; Jaehoon Shin; Hongjun Song; Guo-li Ming
Journal:  Neurotherapeutics       Date:  2013-10       Impact factor: 7.620

Review 8.  Modeling psychiatric disorders at the cellular and network levels.

Authors:  K J Brennand; A Simone; N Tran; F H Gage
Journal:  Mol Psychiatry       Date:  2012-04-03       Impact factor: 15.992

9.  Inhibitors of differentiation (ID1, ID2, ID3 and ID4) genes are neuronal targets of MeCP2 that are elevated in Rett syndrome.

Authors:  Sailaja Peddada; Dag H Yasui; Janine M LaSalle
Journal:  Hum Mol Genet       Date:  2006-05-08       Impact factor: 6.150

Review 10.  Mouse models of neurodevelopmental disease of the basal ganglia and associated circuits.

Authors:  Samuel S Pappas; Daniel K Leventhal; Roger L Albin; William T Dauer
Journal:  Curr Top Dev Biol       Date:  2014       Impact factor: 4.897
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.