PubMed

A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5C.

Jensen LR, Bartenschlager H, Rujirabanjerd S, Tzschach A, Nümann A, Janecke AR, Spörle R, Stricker S, Raynaud M, Nelson J, Hackett A, Fryns JP, Chelly J, de Brouwer AP, Hamel B, Gecz J, Ropers HH, Kuss AW.

Pathogenetics. 2010 Feb 2;3(1):2.PMID: 20181063 [PubMed - in process]Free PMC ArticleFree textRelated citations

The X-linked mental retardation gene SMCX/JARID1C defines a family of histone H3 lysine 4 demethylases.

Iwase S, Lan F, Bayliss P, de la Torre-Ubieta L, Huarte M, Qi HH, Whetstine JR, Bonni A, Roberts TM, Shi Y.

Cell. 2007 Mar 23;128(6):1077-88. Epub 2007 Feb 22.PMID: 17320160 [PubMed - indexed for MEDLINE]Related citations

Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation.

Jensen LR, Amende M, Gurok U, Moser B, Gimmel V, Tzschach A, Janecke AR, Tariverdian G, Chelly J, Fryns JP, Van Esch H, Kleefstra T, Hamel B, Moraine C, Gecz J, Turner G, Reinhardt R, Kalscheuer VM, Ropers HH, Lenzner S.

Am J Hum Genet. 2005 Feb;76(2):227-36. Epub 2004 Dec 7.PMID: 15586325 [PubMed - indexed for MEDLINE]Free PMC ArticleFree textRelated citations

[Monogenic causes of X-linked mental retardation]

Guillén-Navarro E, Glóver-López G.

Rev Neurol. 2006 Jan 7;42 Suppl 1:S45-9. Review. Spanish. PMID: 16506132 [PubMed - indexed for MEDLINE]Free ArticleRelated citations

Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia.

Abidi FE, Holloway L, Moore CA, Weaver DD, Simensen RJ, Stevenson RE, Rogers RC, Schwartz CE.

J Med Genet. 2008 Dec;45(12):787-93. Epub 2008 Aug 12.PMID: 18697827 [PubMed - indexed for MEDLINE]Related citations

The histone H3K4 demethylase SMCX links REST target genes to X-linked mental retardation.

Tahiliani M, Mei P, Fang R, Leonor T, Rutenberg M, Shimizu F, Li J, Rao A, Shi Y.

Nature. 2007 May 31;447(7144):601-5. Epub 2007 Apr 29.PMID: 17468742 [PubMed - indexed for MEDLINE]Related citations

The genetics of autism.

Muhle R, Trentacoste SV, Rapin I.

Pediatrics. 2004 May;113(5):e472-86. Review.PMID: 15121991 [PubMed - indexed for MEDLINE]Free ArticleRelated citations

Whole genome microarray analysis of gene expression in subjects with fragile X syndrome.

Bittel DC, Kibiryeva N, Butler MG.

Genet Med. 2007 Jul;9(7):464-72.PMID: 17666893 [PubMed - indexed for MEDLINE]Related citations

Alport syndrome. Molecular genetic aspects.

Hertz JM.

Dan Med Bull. 2009 Aug;56(3):105-52.PMID: 19728970 [PubMed - indexed for MEDLINE]Related citations

Characterization of novel isoforms and evaluation of SNF2L/SMARCA1 as a candidate gene for X-linked mental retardation in 12 families linked to Xq25-26.

Lazzaro MA, Todd MA, Lavigne P, Vallee D, De Maria A, Picketts DJ.

BMC Med Genet. 2008 Feb 26;9:11.PMID: 18302774 [PubMed - indexed for MEDLINE]Free PMC ArticleFree textRelated citations

Novel JARID1C/SMCX mutations in patients with X-linked mental retardation.

Tzschach A, Lenzner S, Moser B, Reinhardt R, Chelly J, Fryns JP, Kleefstra T, Raynaud M, Turner G, Ropers HH, Kuss A, Jensen LR.

Hum Mutat. 2006 Apr;27(4):389.PMID: 16541399 [PubMed - indexed for MEDLINE]Related citations

Rett syndrome: the complex nature of a monogenic disease.

Renieri A, Meloni I, Longo I, Ariani F, Mari F, Pescucci C, Cambi F.

J Mol Med. 2003 Jun;81(6):346-54. Epub 2003 May 16. Review.PMID: 12750821 [PubMed - indexed for MEDLINE]Related citations

Sex-specific expression of the X-linked histone demethylase gene Jarid1c in brain.

Xu J, Deng X, Disteche CM.

PLoS One. 2008 Jul 2;3(7):e2553.PMID: 18596936 [PubMed - indexed for MEDLINE]Free PMC ArticleFree textRelated citations

X-linked mental retardation: further lumping, splitting and emerging phenotypes.

Kleefstra T, Hamel BC.

Clin Genet. 2005 Jun;67(6):451-67. Review. Erratum in: Clin Genet. 2006 Feb;69(2):197. PMID: 15857409 [PubMed - indexed for MEDLINE]Related citations

Expression profiling and gene discovery in the mouse lens.

Wride MA, Mansergh FC, Adams S, Everitt R, Minnema SE, Rancourt DE, Evans MJ.

Mol Vis. 2003 Aug 22;9:360-96.PMID: 12942050 [PubMed - indexed for MEDLINE]Free ArticleRelated citations

[Non-specific X-linked mental retardation]

Martínez-Castellano F.

Rev Neurol. 2006 Jan 7;42 Suppl 1:S77-83. Review. Spanish. PMID: 16506138 [PubMed - indexed for MEDLINE]Free ArticleRelated citations

X linked mental retardation.

Rejeb I, Ben Jemaa L, Chaabouni H.

Tunis Med. 2009 May;87(5):311-8. Review.PMID: 19927760 [PubMed - indexed for MEDLINE]Free ArticleRelated citations

Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation.

Shoichet SA, Hoffmann K, Menzel C, Trautmann U, Moser B, Hoeltzenbein M, Echenne B, Partington M, Van Bokhoven H, Moraine C, Fryns JP, Chelly J, Rott HD, Ropers HH, Kalscheuer VM.

Am J Hum Genet. 2003 Dec;73(6):1341-54. Epub 2003 Nov 18.PMID: 14628291 [PubMed - indexed for MEDLINE]Free PMC ArticleFree textRelated citations

Involvement of the multiple tumor suppressor genes and 12-lipoxygenase in human prostate cancer. Therapeutic implications.

Gao X, Porter AT, Honn KV.

Adv Exp Med Biol. 1997;407:41-53. Review.PMID: 9321930 [PubMed - indexed for MEDLINE]Related citations

FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation.

Meloni I, Muscettola M, Raynaud M, Longo I, Bruttini M, Moizard MP, Gomot M, Chelly J, des Portes V, Fryns JP, Ropers HH, Magi B, Bellan C, Volpi N, Yntema HG, Lewis SE, Schaffer JE, Renieri A.

Nat Genet. 2002 Apr;30(4):436-40. Epub 2002 Mar 11.PMID: 11889465 [PubMed - indexed for MEDLINE]Related citations