Citations for
1KDM5A, KDM5B, KDM5C
Characterization of a Linked Jumonji Domain of the KDM5/JARID1 Family of Histone H3 Lysine 4 Demethylases.
Horton JR, Engstrom A, Zoeller EL, Liu X, Shanks JR, Zhang X, Johns MA, Vertino PM, Fu H, Cheng X.
J Biol Chem 291(6):2631-46. doi: 10.1074/jbc.M115.698449. Epub 2015 Dec 8. 2016
2ARX, KDM5C, XLMR1
A Regulatory Path Associated with X-Linked Intellectual Disability and Epilepsy Links KDM5C to the Polyalanine Expansions in ARX.
Poeta L, Fusco F, Drongitis D, Shoubridge C, Manganelli G, Filosa S, Paciolla M, Courtney M, Collombat P, Lioi MB, Gecz J, Ursini MV, Miano MG.
Am J Hum Genet 92(1):114-25. doi: 10.1016/j.ajhg.2012.11.008. Epub 2012 Dec 13. 2013
3KDM5C, XLMR1
A novel c.2T > C mutation of the KDM5C/JARID1C gene in one large family with X-linked intellectual disability.
Ounap K, Puusepp-Benazzouz H, Peters M, Vaher U, Rein R, Proos A, Field M, Reimand T.
Eur J Med Genet 55(3):178-84. doi: 10.1016/j.ejmg.2012.01.004. Epub 2012 Jan 21. 2012
4KDM5C, VHL
The von Hippel-Lindau tumor suppressor protein regulates gene expression and tumor growth through histone demethylase JARID1C.
Niu X, Zhang T, Liao L, Zhou L, Lindner DJ, Zhou M, Rini B, Yan Q, Yang H.
Oncogene 31(6):776-86. doi: 10.1038/onc.2011.266. Epub 2011 Jul 4. 2012
5KDM5C, PCNA
Proliferating cell nuclear antigen is required for loading of the SMCX/KMD5C histone demethylase onto chromatin.
Liang Z, Diamond M, Smith JA, Schnell M, Daniel R.
Epigenetics Chromatin 4(1):18. doi: 10.1186/1756-8935-4-18. 2011
6KDM5C, XLMR1
A novel nonsense mutation in KDM5C/JARID1C gene causing intellectual disability, short stature and speech delay.
Santos-Rebouças CB, Fintelman-Rodrigues N, Jensen LR, Kuss AW, Ribeiro MG, Campos M Jr, Santos JM, Pimentel MM.
Neurosci Lett 498(1):67-71. doi: 10.1016/j.neulet.2011.04.065. Epub 2011 May 6. 2011
7KDM5C, XLMR1
Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation.
Rujirabanjerd S, Nelson J, Tarpey PS, Hackett A, Edkins S, Raymond FL, Schwartz CE, Turner G, Iwase S, Shi Y, Futreal PA, Stratton MR, Gecz J.
Eur J Hum Genet 18(3):330-5. Epub 2009 Oct 14.PMID: 19826449 2010
8KDM5C, XLMR1
A novel mutation in JARID1C/SMCX in a patient with autism spectrum disorder (ASD).
Adegbola A, Gao H, Sommer S, Browning M.
Am J Med Genet A 146(4):505-11. 2008
9KDM5C
Repression of Smad3 activity by histone demethylase SMCX/JARID1C.
Kim TD, Shin S, Janknecht R.
Biochem Biophys Res Commun 366(2):563-7. Epub 2007 Dec 17. 2008
10KDM5C, XLMR1
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 45(12):787-93. Epub 2008 Aug 12. 2008
11KDM5C, REST
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 447(7144):601-5. Epub 2007 Apr 29. 2007
12ACSL4, AFF2, AGTR2, ARHGEF6, ARX, ATRX, DLG3, ESMR, FTSJ1, GDI1, IL1RAPL1, KDM5C, MECP2, MRX68, MRX89, MRX90, MRXS31, NLGN3, NLGN4X, OPHN1, PQBP1, RPS6KA3, RTTM, SLC16A2, SLC6A8, SYN1, TSPAN7, ZNF41
X linked mental retardation: a clinical guide.
Raymond FL.
J Med Genet 43(3):193-200. Epub 2005 Aug 23. 2006
13KDM5C, XLMR1
A novel mutation in JARID1C gene associated with mental retardation.
Santos C, Rodriguez-Revenga L, Madrigal I, Badenas C, Pineda M, Mila M.
Eur J Hum Genet 14(5):583-6. 2006
14KDM5C, XLMR1
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 76(2):227-36. Epub 2004 Dec 07. 2005
15KDM5C, KDM5D
Human H-Y : a male-specific histocompatibility antigen derived from the SMCY protein.
Wang W, et al.
Science 269 : 1588-1590. 1995
16KDM5C, KDM5D
Identification of a mouse male-specific transplantation antigen, H-Y.
Scott DM, et al.
Nature 376 : 695-698. 1995
17DXS1008E, DXS1013E, DXS6672E, KDM5C, SMC1A
Three genes that escape X chromosome inactivation are clustered within a6 Mb YAC contig and STS map in Xp11.21-p11.22.
Miller AP, et al.
Hum Mol Genet 4 : 731-739. 1995
18KDM5C
Isolation and characterization of XE169, a novel human gene that escapes X-inactivation.
Wu J, et al.
Hum Mol Genet 3 : 153-160. 1994
19KDM5C, KDM5D
A novel X gene with a widely transcribed Y-linked homologue escapes X-inactivation in mouse and human.
Agulnik AI, et al.
Hum Mol Genet 3 : 879-884. 1994
20KDM5C
The murine Xe169 gene escapes X-inactivation like its human homologue.
Wu J, et al.
Nat Genet 7 : 491-496. 1994