Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype–phenotype correlation-Reference-Cited by-同舟云学术

Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype–phenotype correlation

Published:2009-10-14 Issue:3 Volume:18 Page:330-335
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Rujirabanjerd Sinitdhorn,Nelson John,Tarpey Patrick S,Hackett Anna,Edkins Sarah,Raymond F Lucy,Schwartz Charles E,Turner Gillian,Iwase Shigeki,Shi Yang,Futreal P Andrew,Stratton Michael R,Gecz Jozef

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg2009175.pdf

Reference22 articles.

1. Kortschak RD, Tucker PW, Saint R : ARID proteins come in from the desert. Trends Biochem Sci 2000; 25: 294–299.

2. Jensen LR, Amende M, Gurok U et al: Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation. Am J Hum Genet 2005; 76: 227–236.

3. Kim TD, Shin S, Janknecht R : Repression of Smad3 activity by histone demethylase SMCX/JARID1C. Biochem Biophys Res Commun 2008; 366: 563–567.

4. Iwase S, Lan F, Bayliss P et al: The X-linked mental retardation gene SMCX/JARID1C defines a family of histone H3 lysine 4 demethylases. Cell 2007; 128: 1077–1088.

5. Tahiliani M, Mei P, Fang R et al: The histone H3K4 demethylase SMCX links REST target genes to X-linked mental retardation. Nature 2007; 447: 601–605.

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