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Items: 1 to 20 of 109

1.

Patient-specific induced-pluripotent stem cells-derived cardiomyocytes recapitulate the pathogenic phenotypes of dilated cardiomyopathy due to a novel DES mutation identified by whole exome sequencing.

Tse HF, Ho JC, Choi SW, Lee YK, Butler AW, Ng KM, Siu CW, Simpson MA, Lai WH, Chan YC, Au KW, Zhang J, Lay KW, Esteban MA, Nicholls JM, Colman A, Sham PC.

Hum Mol Genet. 2013 Apr 1;22(7):1395-403. doi: 10.1093/hmg/dds556. Epub 2013 Jan 8. Erratum in: Hum Mol Genet. 2014 Apr 15;23(8):2332-3.

PMID:
23300193
2.

Functional characterization of the novel DES mutation p.L136P associated with dilated cardiomyopathy reveals a dominant filament assembly defect.

Brodehl A, Dieding M, Biere N, Unger A, Klauke B, Walhorn V, Gummert J, Schulz U, Linke WA, Gerull B, Vorgert M, Anselmetti D, Milting H.

J Mol Cell Cardiol. 2016 Feb;91:207-14. doi: 10.1016/j.yjmcc.2015.12.015. Epub 2015 Dec 23.

PMID:
26724190
3.
4.

Modeling structural and functional deficiencies of RBM20 familial dilated cardiomyopathy using human induced pluripotent stem cells.

Wyles SP, Li X, Hrstka SC, Reyes S, Oommen S, Beraldi R, Edwards J, Terzic A, Olson TM, Nelson TJ.

Hum Mol Genet. 2016 Jan 15;25(2):254-65. doi: 10.1093/hmg/ddv468. Epub 2015 Nov 24.

5.

Prevalence of desmin mutations in dilated cardiomyopathy.

Taylor MR, Slavov D, Ku L, Di Lenarda A, Sinagra G, Carniel E, Haubold K, Boucek MM, Ferguson D, Graw SL, Zhu X, Cavanaugh J, Sucharov CC, Long CS, Bristow MR, Lavori P, Mestroni L; Familial Cardiomyopathy Registry; BEST (Beta-Blocker Evaluation of Survival Trial) DNA Bank.

Circulation. 2007 Mar 13;115(10):1244-51. Epub 2007 Feb 26.

6.

Characterization of the canine desmin (DES) gene and evaluation as a candidate gene for dilated cardiomyopathy in the Dobermann.

Stabej P, Imholz S, Versteeg SA, Zijlstra C, Stokhof AA, Domanjko-Petric A, Leegwater PA, van Oost BA.

Gene. 2004 Oct 13;340(2):241-9.

PMID:
15475165
7.

Patient-specific induced pluripotent stem cells as a model for familial dilated cardiomyopathy.

Sun N, Yazawa M, Liu J, Han L, Sanchez-Freire V, Abilez OJ, Navarrete EG, Hu S, Wang L, Lee A, Pavlovic A, Lin S, Chen R, Hajjar RJ, Snyder MP, Dolmetsch RE, Butte MJ, Ashley EA, Longaker MT, Robbins RC, Wu JC.

Sci Transl Med. 2012 Apr 18;4(130):130ra47. doi: 10.1126/scitranslmed.3003552.

8.

TNNI3K mutation in familial syndrome of conduction system disease, atrial tachyarrhythmia and dilated cardiomyopathy.

Theis JL, Zimmermann MT, Larsen BT, Rybakova IN, Long PA, Evans JM, Middha S, de Andrade M, Moss RL, Wieben ED, Michels VV, Olson TM.

Hum Mol Genet. 2014 Nov 1;23(21):5793-804. doi: 10.1093/hmg/ddu297. Epub 2014 Jun 11.

9.

Modeling of lamin A/C mutation premature cardiac aging using patient‐specific induced pluripotent stem cells.

Siu CW, Lee YK, Ho JC, Lai WH, Chan YC, Ng KM, Wong LY, Au KW, Lau YM, Zhang J, Lay KW, Colman A, Tse HF.

Aging (Albany NY). 2012 Nov;4(11):803-822.

10.

Epigenetic Regulation of Phosphodiesterases 2A and 3A Underlies Compromised β-Adrenergic Signaling in an iPSC Model of Dilated Cardiomyopathy.

Wu H, Lee J, Vincent LG, Wang Q, Gu M, Lan F, Churko JM, Sallam KI, Matsa E, Sharma A, Gold JD, Engler AJ, Xiang YK, Bers DM, Wu JC.

Cell Stem Cell. 2015 Jul 2;17(1):89-100. doi: 10.1016/j.stem.2015.04.020. Epub 2015 Jun 18.

11.

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.

12.

A substitution mutation in cardiac ubiquitin ligase, FBXO32, is associated with an autosomal recessive form of dilated cardiomyopathy.

Al-Hassnan ZN, Shinwari ZM, Wakil SM, Tulbah S, Mohammed S, Rahbeeni Z, Alghamdi M, Rababh M, Colak D, Kaya N, Al-Fayyadh M, Alburaiki J.

BMC Med Genet. 2016 Jan 14;17:3. doi: 10.1186/s12881-016-0267-5.

13.

Homozygosity mapping and exome sequencing reveal GATAD1 mutation in autosomal recessive dilated cardiomyopathy.

Theis JL, Sharpe KM, Matsumoto ME, Chai HS, Nair AA, Theis JD, de Andrade M, Wieben ED, Michels VV, Olson TM.

Circ Cardiovasc Genet. 2011 Dec;4(6):585-94. doi: 10.1161/CIRCGENETICS.111.961052. Epub 2011 Sep 30.

14.

Differential responses of induced pluripotent stem cell-derived cardiomyocytes to anisotropic strain depends on disease status.

Chun YW, Voyles DE, Rath R, Hofmeister LH, Boire TC, Wilcox H, Lee JH, Bellan LM, Hong CC, Sung HJ.

J Biomech. 2015 Nov 5;48(14):3890-6. doi: 10.1016/j.jbiomech.2015.09.028. Epub 2015 Oct 8.

15.

Exome Sequencing Identifies a Novel DES Mutation (R227C) in a Chinese Dilated Cardiomyopathy Family.

Yu R, Liu L, Chen C, Shen JM.

Cardiology. 2017;137(2):78-82. doi: 10.1159/000455181. Epub 2017 Feb 8.

PMID:
28171858
16.

Exome Sequencing Identifies Pathogenic and Modifier Mutations in a Child With Sporadic Dilated Cardiomyopathy.

Long PA, Larsen BT, Evans JM, Olson TM.

J Am Heart Assoc. 2015 Dec 9;4(12). pii: e002443. doi: 10.1161/JAHA.115.002443.

17.

[Correlation between desmin gene, platelet-activating factor acetylhydrolase gene and dilated cardiomyopathy].

Wang B, Rao L, Zhang L, Zhou B, Wang YP, Chen XY.

Sichuan Da Xue Xue Bao Yi Xue Ban. 2006 May;37(3):391-4. Chinese.

PMID:
16761416
18.

Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathy.

Norton N, Li D, Rieder MJ, Siegfried JD, Rampersaud E, Züchner S, Mangos S, Gonzalez-Quintana J, Wang L, McGee S, Reiser J, Martin E, Nickerson DA, Hershberger RE.

Am J Hum Genet. 2011 Mar 11;88(3):273-82. doi: 10.1016/j.ajhg.2011.01.016. Epub 2011 Feb 25.

19.

Generation of patient-specific induced pluripotent stem cell-derived cardiomyocytes as a cellular model of arrhythmogenic right ventricular cardiomyopathy.

Ma D, Wei H, Lu J, Ho S, Zhang G, Sun X, Oh Y, Tan SH, Ng ML, Shim W, Wong P, Liew R.

Eur Heart J. 2013 Apr;34(15):1122-33. doi: 10.1093/eurheartj/ehs226. Epub 2012 Jul 13.

PMID:
22798562
20.

Whole exome sequencing identifies a KCNJ12 mutation as a cause of familial dilated cardiomyopathy.

Yuan HX, Yan K, Hou DY, Zhang ZY, Wang H, Wang X, Zhang J, Xu XR, Liang YH, Zhao WS, Xu L, Zhang L.

Medicine (Baltimore). 2017 Aug;96(33):e7727. doi: 10.1097/MD.0000000000007727.

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