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Items: 1 to 20 of 161

1.

A novel genetic variant in the transcription factor Islet-1 exerts gain of function on myocyte enhancer factor 2C promoter activity.

Friedrich FW, Dilanian G, Khattar P, Juhr D, Gueneau L, Charron P, Fressart V, Vilquin JT, Isnard R, Gouya L, Richard P, Hammoudi N, Komajda M, Bonne G, Eschenhagen T, Dubourg O, Villard E, Carrier L.

Eur J Heart Fail. 2013 Mar;15(3):267-76. doi: 10.1093/eurjhf/hfs178. Epub 2012 Nov 14.

2.

New polymorphisms in human MEF2C gene as potential modifier of hypertrophic cardiomyopathy.

Alonso-Montes C, Naves-Diaz M, Fernandez-Martin JL, Rodriguez-Reguero J, Moris C, Coto E, Cannata-Andia JB, Rodriguez I.

Mol Biol Rep. 2012 Sep;39(9):8777-85. doi: 10.1007/s11033-012-1740-7. Epub 2012 Jun 21.

PMID:
22718505
3.

A novel missense mutation in the myosin binding protein-C gene is responsible for hypertrophic cardiomyopathy with left ventricular dysfunction and dilation in elderly patients.

Konno T, Shimizu M, Ino H, Matsuyama T, Yamaguchi M, Terai H, Hayashi K, Mabuchi T, Kiyama M, Sakata K, Hayashi T, Inoue M, Kaneda T, Mabuchi H.

J Am Coll Cardiol. 2003 Mar 5;41(5):781-6.

4.

Genetic fate mapping identifies second heart field progenitor cells as a source of adipocytes in arrhythmogenic right ventricular cardiomyopathy.

Lombardi R, Dong J, Rodriguez G, Bell A, Leung TK, Schwartz RJ, Willerson JT, Brugada R, Marian AJ.

Circ Res. 2009 May 8;104(9):1076-84. doi: 10.1161/CIRCRESAHA.109.196899. Epub 2009 Apr 9.

5.

Mef2c is a direct transcriptional target of ISL1 and GATA factors in the anterior heart field during mouse embryonic development.

Dodou E, Verzi MP, Anderson JP, Xu SM, Black BL.

Development. 2004 Aug;131(16):3931-42. Epub 2004 Jul 14.

6.

Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease.

Fatkin D, MacRae C, Sasaki T, Wolff MR, Porcu M, Frenneaux M, Atherton J, Vidaillet HJ Jr, Spudich S, De Girolami U, Seidman JG, Seidman C, Muntoni F, Müehle G, Johnson W, McDonough B.

N Engl J Med. 1999 Dec 2;341(23):1715-24.

7.

Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy.

Gueneau L, Bertrand AT, Jais JP, Salih MA, Stojkovic T, Wehnert M, Hoeltzenbein M, Spuler S, Saitoh S, Verschueren A, Tranchant C, Beuvin M, Lacene E, Romero NB, Heath S, Zelenika D, Voit T, Eymard B, Ben Yaou R, Bonne G.

Am J Hum Genet. 2009 Sep;85(3):338-53. doi: 10.1016/j.ajhg.2009.07.015. Epub 2009 Aug 27.

8.

Resequencing the whole MYH7 gene (including the intronic, promoter, and 3' UTR sequences) in hypertrophic cardiomyopathy.

Coto E, Reguero JR, Palacín M, Gómez J, Alonso B, Iglesias S, Martín M, Tavira B, Díaz-Molina B, Morales C, Morís C, Rodríguez-Lambert JL, Corao AI, Díaz M, Alvarez V.

J Mol Diagn. 2012 Sep;14(5):518-24. doi: 10.1016/j.jmoldx.2012.04.001. Epub 2012 Jul 2.

PMID:
22765922
9.

Whole exome sequencing identifies a novel EMD mutation in a Chinese family with dilated cardiomyopathy.

Zhang M, Chen J, Si D, Zheng Y, Jiao H, Feng Z, Hu Z, Duan R.

BMC Med Genet. 2014 Jul 5;15:77. doi: 10.1186/1471-2350-15-77.

10.

Novel correlations between the genotype and the phenotype of hypertrophic and dilated cardiomyopathy: results from the German Competence Network Heart Failure.

Waldmüller S, Erdmann J, Binner P, Gelbrich G, Pankuweit S, Geier C, Timmermann B, Haremza J, Perrot A, Scheer S, Wachter R, Schulze-Waltrup N, Dermintzoglou A, Schönberger J, Zeh W, Jurmann B, Brodherr T, Börgel J, Farr M, Milting H, Blankenfeldt W, Reinhardt R, Özcelik C, Osterziel KJ, Loeffler M, Maisch B, Regitz-Zagrosek V, Schunkert H, Scheffold T; German Competence Network Heart Failure.

Eur J Heart Fail. 2011 Nov;13(11):1185-92. doi: 10.1093/eurjhf/hfr074. Epub 2011 Jul 12.

11.

Composite polymorphisms in the ryanodine receptor 2 gene associated with arrhythmogenic right ventricular cardiomyopathy.

Milting H, Lukas N, Klauke B, Körfer R, Perrot A, Osterziel KJ, Vogt J, Peters S, Thieleczek R, Varsányi M.

Cardiovasc Res. 2006 Aug 1;71(3):496-505. Epub 2006 Apr 18.

PMID:
16769042
12.

Alpha-myosin heavy chain: a sarcomeric gene associated with dilated and hypertrophic phenotypes of cardiomyopathy.

Carniel E, Taylor MR, Sinagra G, Di Lenarda A, Ku L, Fain PR, Boucek MM, Cavanaugh J, Miocic S, Slavov D, Graw SL, Feiger J, Zhu XZ, Dao D, Ferguson DA, Bristow MR, Mestroni L.

Circulation. 2005 Jul 5;112(1):54-9.

13.

Mutational analysis of fukutin gene in dilated cardiomyopathy and hypertrophic cardiomyopathy.

Arimura T, Hayashi YK, Murakami T, Oya Y, Funabe S, Arikawa-Hirasawa E, Hattori N, Nishino I, Kimura A.

Circ J. 2009 Jan;73(1):158-61. Epub 2008 Nov 17.

14.

GATA6 loss-of-function mutations contribute to familial dilated cardiomyopathy.

Xu L, Zhao L, Yuan F, Jiang WF, Liu H, Li RG, Xu YJ, Zhang M, Fang WY, Qu XK, Yang YQ, Qiu XB.

Int J Mol Med. 2014 Nov;34(5):1315-22. doi: 10.3892/ijmm.2014.1896. Epub 2014 Aug 13.

PMID:
25119427
15.

Molecular genetic and functional characterization implicate muscle-restricted coiled-coil gene (MURC) as a causal gene for familial dilated cardiomyopathy.

Rodriguez G, Ueyama T, Ogata T, Czernuszewicz G, Tan Y, Dorn GW 2nd, Bogaev R, Amano K, Oh H, Matsubara H, Willerson JT, Marian AJ.

Circ Cardiovasc Genet. 2011 Aug 1;4(4):349-58. doi: 10.1161/CIRCGENETICS.111.959866. Epub 2011 Jun 3.

16.

New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants.

Andreasen C, Nielsen JB, Refsgaard L, Holst AG, Christensen AH, Andreasen L, Sajadieh A, Haunsø S, Svendsen JH, Olesen MS.

Eur J Hum Genet. 2013 Sep;21(9):918-28. doi: 10.1038/ejhg.2012.283. Epub 2013 Jan 9.

17.

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.

PMID:
23161701
18.

ISL1 directly regulates FGF10 transcription during human cardiac outflow formation.

Golzio C, Havis E, Daubas P, Nuel G, Babarit C, Munnich A, Vekemans M, Zaffran S, Lyonnet S, Etchevers HC.

PLoS One. 2012;7(1):e30677. doi: 10.1371/journal.pone.0030677. Epub 2012 Jan 27.

19.

Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene.

Bonne G, Mercuri E, Muchir A, Urtizberea A, Bécane HM, Recan D, Merlini L, Wehnert M, Boor R, Reuner U, Vorgerd M, Wicklein EM, Eymard B, Duboc D, Penisson-Besnier I, Cuisset JM, Ferrer X, Desguerre I, Lacombe D, Bushby K, Pollitt C, Toniolo D, Fardeau M, Schwartz K, Muntoni F.

Ann Neurol. 2000 Aug;48(2):170-80.

PMID:
10939567
20.

Nucleotide sequence and variations of the bovine myocyte enhancer factor 2C (MEF2C) gene promoter in Bos taurus cattle.

Juszczuk-Kubiak E, Flisikowski K, Wicińska K.

Mol Biol Rep. 2011 Feb;38(2):1269-76. doi: 10.1007/s11033-010-0226-8. Epub 2010 Jun 29.

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