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Results: 1 to 20 of 41

PubMed for Gene (Select 79188)

1.

TMEM43 mutations associated with arrhythmogenic right ventricular cardiomyopathy in non-Newfoundland populations.

Baskin B, Skinner JR, Sanatani S, Terespolsky D, Krahn AD, Ray PN, Scherer SW, Hamilton RM.

Hum Genet. 2013 Nov;132(11):1245-52. doi: 10.1007/s00439-013-1323-2. Epub 2013 Jun 29.

PMID:
23812740
2.

Recurrent missense mutations in TMEM43 (ARVD5) due to founder effects cause arrhythmogenic cardiomyopathies in the UK and Canada.

Haywood AF, Merner ND, Hodgkinson KA, Houston J, Syrris P, Booth V, Connors S, Pantazis A, Quarta G, Elliott P, McKenna W, Young TL.

Eur Heart J. 2013 Apr;34(13):1002-11. doi: 10.1093/eurheartj/ehs383. Epub 2012 Nov 15.

3.

The natural history of a genetic subtype of arrhythmogenic right ventricular cardiomyopathy caused by a p.S358L mutation in TMEM43.

Hodgkinson KA, Connors SP, Merner N, Haywood A, Young TL, McKenna WJ, Gallagher B, Curtis F, Bassett AS, Parfrey PS.

Clin Genet. 2013 Apr;83(4):321-31. doi: 10.1111/j.1399-0004.2012.01919.x. Epub 2012 Aug 13.

PMID:
22725725
4.

Functional effects of the TMEM43 Ser358Leu mutation in the pathogenesis of arrhythmogenic right ventricular cardiomyopathy.

Rajkumar R, Sembrat JC, McDonough B, Seidman CE, Ahmad F.

BMC Med Genet. 2012 Mar 29;13:21. doi: 10.1186/1471-2350-13-21.

5.

TMEM43 mutations in Emery-Dreifuss muscular dystrophy-related myopathy.

Liang WC, Mitsuhashi H, Keduka E, Nonaka I, Noguchi S, Nishino I, Hayashi YK.

Ann Neurol. 2011 Jun;69(6):1005-13. doi: 10.1002/ana.22338. Epub 2011 Mar 9.

PMID:
21391237
6.

Mutation analysis and evaluation of the cardiac localization of TMEM43 in arrhythmogenic right ventricular cardiomyopathy.

Christensen AH, Andersen CB, Tybjaerg-Hansen A, Haunso S, Svendsen JH.

Clin Genet. 2011 Sep;80(3):256-64. doi: 10.1111/j.1399-0004.2011.01623.x. Epub 2011 Jan 24.

PMID:
21214875
7.

Translation of research discoveries to clinical care in arrhythmogenic right ventricular cardiomyopathy in Newfoundland and Labrador: lessons for health policy in genetic disease.

Hodgkinson K, Dicks E, Connors S, Young TL, Parfrey P, Pullman D.

Genet Med. 2009 Dec;11(12):859-65. doi: 10.1097/GIM.0b013e3181c20bb3.

PMID:
20010364
8.

Localization of a gene responsible for arrhythmogenic right ventricular dysplasia to chromosome 3p23.

Ahmad F, Li D, Karibe A, Gonzalez O, Tapscott T, Hill R, Weilbaecher D, Blackie P, Furey M, Gardner M, Bachinski LL, Roberts R.

Circulation. 1998 Dec 22-29;98(25):2791-5.

9.

Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene.

Merner ND, Hodgkinson KA, Haywood AF, Connors S, French VM, Drenckhahn JD, Kupprion C, Ramadanova K, Thierfelder L, McKenna W, Gallagher B, Morris-Larkin L, Bassett AS, Parfrey PS, Young TL.

Am J Hum Genet. 2008 Apr;82(4):809-21. doi: 10.1016/j.ajhg.2008.01.010. Epub 2008 Feb 28.

10.

The locus of a novel gene responsible for arrhythmogenic right-ventricular dysplasia characterized by early onset and high penetrance maps to chromosome 10p12-p14.

Li D, Ahmad F, Gardner MJ, Weilbaecher D, Hill R, Karibe A, Gonzalez O, Tapscott T, Sharratt GP, Bachinski LL, Roberts R.

Am J Hum Genet. 2000 Jan;66(1):148-56.

11.

LUMA interacts with emerin and influences its distribution at the inner nuclear membrane.

Bengtsson L, Otto H.

J Cell Sci. 2008 Feb 15;121(Pt 4):536-48. doi: 10.1242/jcs.019281. Epub 2008 Jan 29.

12.

Role of genetic testing in arrhythmogenic right ventricular cardiomyopathy/dysplasia.

Barahona-Dussault C, Benito B, Campuzano O, Iglesias A, Leung TL, Robb L, Talajic M, Brugada R.

Clin Genet. 2010 Jan;77(1):37-48. doi: 10.1111/j.1399-0004.2009.01282.x. Epub 2009 Oct 15.

PMID:
19863551
13.

Nuclear envelope proteomics: novel integral membrane proteins of the inner nuclear membrane.

Dreger M, Bengtsson L, Sch├Âneberg T, Otto H, Hucho F.

Proc Natl Acad Sci U S A. 2001 Oct 9;98(21):11943-8. Epub 2001 Oct 2.

14.

Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy.

McNally E, MacLeod H, Dellefave-Castillo L.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015.
2005 Apr 18 [updated 2014 Jan 9].

15.

Antiviral inhibition targeting the HCMV kinase pUL97 requires pUL27-dependent degradation of Tip60 acetyltransferase and cell-cycle arrest.

Reitsma JM, Savaryn JP, Faust K, Sato H, Halligan BD, Terhune SS.

Cell Host Microbe. 2011 Feb 17;9(2):103-14. doi: 10.1016/j.chom.2011.01.006.

16.

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

Green RC, Berg JS, Grody WW, Kalia SS, Korf BR, Martin CL, McGuire AL, Nussbaum RL, O'Daniel JM, Ormond KE, Rehm HL, Watson MS, Williams MS, Biesecker LG; American College of Medical Genetics and Genomics.

Genet Med. 2013 Jul;15(7):565-74. doi: 10.1038/gim.2013.73. Epub 2013 Jun 20.

17.

MMS19 assembles iron-sulfur proteins required for DNA metabolism and genomic integrity.

Stehling O, Vashisht AA, Mascarenhas J, Jonsson ZO, Sharma T, Netz DJ, Pierik AJ, Wohlschlegel JA, Lill R.

Science. 2012 Jul 13;337(6091):195-9. doi: 10.1126/science.1219723. Epub 2012 Jun 7.

18.

Defining human ERAD networks through an integrative mapping strategy.

Christianson JC, Olzmann JA, Shaler TA, Sowa ME, Bennett EJ, Richter CM, Tyler RE, Greenblatt EJ, Harper JW, Kopito RR.

Nat Cell Biol. 2011 Nov 27;14(1):93-105. doi: 10.1038/ncb2383.

19.

Hsp90 cochaperone Aha1 downregulation rescues misfolding of CFTR in cystic fibrosis.

Wang X, Venable J, LaPointe P, Hutt DM, Koulov AV, Coppinger J, Gurkan C, Kellner W, Matteson J, Plutner H, Riordan JR, Kelly JW, Yates JR 3rd, Balch WE.

Cell. 2006 Nov 17;127(4):803-15.

20.

TRIM65 regulates microRNA activity by ubiquitination of TNRC6.

Li S, Wang L, Fu B, Berman MA, Diallo A, Dorf ME.

Proc Natl Acad Sci U S A. 2014 May 13;111(19):6970-5. doi: 10.1073/pnas.1322545111. Epub 2014 Apr 28.

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