PMC Links for Nucleotide (Select 1519244873) - PMC

Select item 37388251.

XLID-Causing Mutations and Associated Genes Challenged in Light of Data From Large-Scale Human Exome Sequencing

Amélie Piton, Claire Redin, Jean-Louis Mandel

Am J Hum Genet. 2013 Aug 8; 93(2): 368–383. doi: 10.1016/j.ajhg.2013.06.013

Correction in:: Am J Hum Genet. 2013 Aug 8; 93(2): 406.

PMCID:: PMC3738825

Abstract Article PDF–990K

Select item 34594702.

An X-linked channelopathy with cardiomegaly due to a CLIC2 mutation enhancing ryanodine receptor channel activity

Kyoko Takano, Dan Liu, Patrick Tarpey, Esther Gallant, Alex Lam, Shawn Witham, Emil Alexov, Alka Chaubey, Roger E. Stevenson, Charles E. Schwartz, Philip G. Board, Angela F. Dulhunty

Hum Mol Genet. 2012 Oct 15; 21(20): 4497–4507. Published online 2012 Jul 19. doi: 10.1093/hmg/dds292

PMCID:: PMC3459470

Abstract Article PDF–385K

Select item 31322933.

A Missense Mutation in CLIC2 Associated with Intellectual Disability is Predicted by In Silico Modeling to Affect Protein Stability and Dynamics

Shawn Witham, Kyoko Takano, Charles Schwartz, Emil Alexov

Proteins. Author manuscript; available in PMC 2012 Aug 1.

Published in final edited form as: Proteins. 2011 Aug; 79(8): 2444–2454. Published online 2011 May 31. doi: 10.1002/prot.23065

PMCID:: PMC3132293

Abstract Article PDF–1.1M

Select item 23397514.

Expression, purification, crystallization and preliminary X-ray diffraction analysis of chloride intracellular channel 2 (CLIC2)

Brett A. Cromer, Michael A. Gorman, Guido Hansen, Julian J. Adams, Marjorie Coggan, Philip G. Board, Michael W. Parker

Acta Crystallogr Sect F Struct Biol Cryst Commun. 2007 Nov 1; 63(Pt 11): 961–963. Published online 2007 Oct 24. doi: 10.1107/S1744309107049159

PMCID:: PMC2339751

Abstract Article PDF–177K

Select item 10837325.

Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing

Jeremy C. Simpson, Ruth Wellenreuther, Annemarie Poustka, Rainer Pepperkok, Stefan Wiemann

EMBO Rep. 2000 Sep 15; 1(3): 287–292. doi: 10.1093/embo-reports/kvd058

PMCID:: PMC1083732

Abstract Article PDF–375K

Select item 67363046.

Host cell depletion of tryptophan by IFNγ-induced Indoleamine 2,3-dioxygenase 1 (IDO1) inhibits lysosomal replication of Coxiella burnetii

Sandhya Ganesan, Craig R. Roy

PLoS Pathog. 2019 Aug; 15(8): e1007955. Published online 2019 Aug 28. doi: 10.1371/journal.ppat.1007955

PMCID:: PMC6736304

Abstract Article PDF–3.1M

Select item 66607007.

A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing

Ye Cao, Mari J. Tokita, Edward S. Chen, Rajarshi Ghosh, Tiansheng Chen, Yanming Feng, Elizabeth Gorman, Federica Gibellini, Patricia A. Ward, Alicia Braxton, Xia Wang, Linyan Meng, Rui Xiao, Weimin Bi, Fan Xia, Christine M. Eng, Yaping Yang, Tomasz Gambin, Chad Shaw, Pengfei Liu, Pawel Stankiewicz

Genome Med. 2019; 11: 48. Published online 2019 Jul 26. doi: 10.1186/s13073-019-0658-2

PMCID:: PMC6660700

Abstract Article PDF–980K

Select item 44326178.

Gene Expression Changes in Residual Advanced Cervical Cancer after Radiotherapy: Indicators of Poor Prognosis and Radioresistance?

Zhi-chao Fu, Feng-mei Wang, Jian-ming Cai

Med Sci Monit. 2015; 21: 1276–1287. Published online 2015 May 5. doi: 10.12659/MSM.893689

PMCID:: PMC4432617

Abstract Article PDF–1.2M

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