PMC Links for OMIM (Select 300019) - PMC

Select item 42911271.

Interaction of HCF-1 with a Cellular Nuclear Export Factor

Shahana S. Mahajan, Markus M. Little, Rafael Vazquez, Angus C. Wilson

J Biol Chem. Author manuscript; available in PMC 2015 Jan 12.

Published in final edited form as: J Biol Chem. 2002 Nov 15; 277(46): 44292–44299. Published online 2002 Sep 15. doi: 10.1074/jbc.M205440200

PMCID:: PMC4291127

Abstract Article PDF–3.6M

Select item 39300582.

HCF-1 is cleaved in the active site of O-GlcNAc transferase

Michael B. Lazarus, Jiaoyang Jiang, Vaibhav Kapuria, Tanja Bhuiyan, John Janetzko, Wesley F. Zandberg, David J. Vocadlo, Winship Herr, Suzanne Walker

Science. Author manuscript; available in PMC 2014 Dec 6.

Published in final edited form as: Science. 2013 Dec 6; 342(6163): 1235–1239. doi: 10.1126/science.1243990

PMCID:: PMC3930058

Abstract Article PDF–2.5M

Select item 37699683.

An X-Linked Cobalamin Disorder Caused by Mutations in Transcriptional Coregulator HCFC1

Hung-Chun Yu, Jennifer L. Sloan, Gunter Scharer, Alison Brebner, Anita M. Quintana, Nathan P. Achilly, Irini Manoli, Curtis R. Coughlin, II, Elizabeth A. Geiger, Una Schneck, David Watkins, Terttu Suormala, Johan L.K. Van Hove, Brian Fowler, Matthias R. Baumgartner, David S. Rosenblatt, Charles P. Venditti, Tamim H. Shaikh

Am J Hum Genet. 2013 Sep 5; 93(3): 506–514. doi: 10.1016/j.ajhg.2013.07.022

PMCID:: PMC3769968

Abstract Article PDF–737K

Select item 34846514.

A Noncoding, Regulatory Mutation Implicates HCFC1 in Nonsyndromic Intellectual Disability

Lingli Huang, Lachlan A. Jolly, Saffron Willis-Owen, Alison Gardner, Raman Kumar, Evelyn Douglas, Cheryl Shoubridge, Dagmar Wieczorek, Andreas Tzschach, Monika Cohen, Anna Hackett, Michael Field, Guy Froyen, Hao Hu, Stefan A. Haas, Hans-Hilger Ropers, Vera M. Kalscheuer, Mark A. Corbett, Jozef Gecz

Am J Hum Genet. 2012 Oct 5; 91(4): 694–702. doi: 10.1016/j.ajhg.2012.08.011

PMCID:: PMC3484651

Abstract Article PDF–994K

Select item 27835735.

Inhibition of the histone demethylase LSD1 blocks a-herpesvirus lytic replication and reactivation from latency

Yu Liang, Jodi L. Vogel, Aarthi Narayanan, Hua Peng, Thomas M. Kristie

Nat Med. Author manuscript; available in PMC 2010 May 1.

Published in final edited form as: Nat Med. 2009 Nov; 15(11): 1312–1317. Published online 2009 Oct 25. doi: 10.1038/nm.2051

PMCID:: PMC2783573

Abstract Article PDF–1.7M

Select item 10169006.

Localisation of the MRX3 gene for non-specific X linked mental retardation.

A Gedeon, B Kerr, J Mulley, G Turner

J Med Genet. 1991 Jun; 28(6): 372–377. doi: 10.1136/jmg.28.6.372

PMCID:: PMC1016900

Summary Page Browse PDF–965K

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