PMC Links for OMIM (Select 604488) - PMC

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Items: 4

Select item 35261641.

A critical role for Telethonin in regulating t-tubule structure and function in the mammalian heart

Michael Ibrahim, Urszula Siedlecka, Byambajav Buyandelger, Mutsuo Harada, Christopher Rao, Alexey Moshkov, Anamika Bhargava, Michael Schneider, Magdi H. Yacoub, Julia Gorelik, Ralph Knöll, Cesare M. Terracciano

Hum Mol Genet. 2013 Jan 15; 22(2): 372–383. Published online 2012 Oct 25. doi: 10.1093/hmg/dds434

PMCID:: PMC3526164

Abstract Article PDF–514K

Select item 28653792.

Functional muscle analysis of the Tcap knockout mouse

C.D. Markert, M.P. Meaney, K.A. Voelker, R.W. Grange, H.W. Dalley, J.K. Cann, M. Ahmed, B. Bishwokarma, S.J. Walker, S.X. Yu, M. Brown, M.W. Lawlor, A.H. Beggs, M.K. Childers

Hum Mol Genet. 2010 Jun 1; 19(11): 2268–2283. Published online 2010 Mar 16. doi: 10.1093/hmg/ddq105

PMCID:: PMC2865379

Abstract Article PDF–623K

Select item 27581433.

Depletion of zebrafish Tcap leads to muscular dystrophy via disrupting sarcomere–membrane interaction, not sarcomere assembly

Ruilin Zhang, Jingchun Yang, Jin Zhu, Xiaolei Xu

Hum Mol Genet. 2009 Nov 1; 18(21): 4130–4140. Published online 2009 Aug 12. doi: 10.1093/hmg/ddp362

PMCID:: PMC2758143

Abstract Article PDF–437K

Select item 27565114.

Genotype—phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin

J. Martijn Bos, Rainer N. Poley, Melissa Ny, David J. Tester, Xiaolei Xu, Matteo Vatta, Jeffrey A. Towbin, Bernard J. Gersh, Steve R. Ommen, Michael J. Ackerman

Mol Genet Metab. Author manuscript; available in PMC 2009 Oct 4.

Published in final edited form as: Mol Genet Metab. 2006 May; 88(1): 78–85. Published online 2005 Dec 13. doi: 10.1016/j.ymgme.2005.10.008