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Items: 1 to 20 of 97

1.

MLP-deficient human pluripotent stem cell derived cardiomyocytes develop hypertrophic cardiomyopathy and heart failure phenotypes due to abnormal calcium handling.

Li X, Lu WJ, Li Y, Wu F, Bai R, Ma S, Dong T, Zhang H, Lee AS, Wang Y, Lan F.

Cell Death Dis. 2019 Aug 13;10(8):610. doi: 10.1038/s41419-019-1826-4.

2.

Deficient cMyBP-C protein expression during cardiomyocyte differentiation underlies human hypertrophic cardiomyopathy cellular phenotypes in disease specific human ES cell derived cardiomyocytes.

Monteiro da Rocha A, Guerrero-Serna G, Helms A, Luzod C, Mironov S, Russell M, Jalife J, Day SM, Smith GD, Herron TJ.

J Mol Cell Cardiol. 2016 Oct;99:197-206. doi: 10.1016/j.yjmcc.2016.09.004. Epub 2016 Sep 10.

3.

Mutant Muscle LIM Protein C58G causes cardiomyopathy through protein depletion.

Ehsan M, Kelly M, Hooper C, Yavari A, Beglov J, Bellahcene M, Ghataorhe K, Poloni G, Goel A, Kyriakou T, Fleischanderl K, Ehler E, Makeyev E, Lange S, Ashrafian H, Redwood C, Davies B, Watkins H, Gehmlich K.

J Mol Cell Cardiol. 2018 Aug;121:287-296. doi: 10.1016/j.yjmcc.2018.07.248. Epub 2018 Jul 23.

4.

Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy.

Geier C, Gehmlich K, Ehler E, Hassfeld S, Perrot A, Hayess K, Cardim N, Wenzel K, Erdmann B, Krackhardt F, Posch MG, Osterziel KJ, Bublak A, Nägele H, Scheffold T, Dietz R, Chien KR, Spuler S, Fürst DO, Nürnberg P, Ozcelik C.

Hum Mol Genet. 2008 Sep 15;17(18):2753-65. doi: 10.1093/hmg/ddn160. Epub 2008 May 27. Erratum in: Hum Mol Genet. 2008 Nov 1;17(21):3436. Osterziel, Karl J [added].

PMID:
18505755
5.

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

Bos JM, Poley RN, Ny M, Tester DJ, Xu X, Vatta M, Towbin JA, Gersh BJ, Ommen SR, Ackerman MJ.

Mol Genet Metab. 2006 May;88(1):78-85. Epub 2005 Dec 13.

6.

Drug screening using a library of human induced pluripotent stem cell-derived cardiomyocytes reveals disease-specific patterns of cardiotoxicity.

Liang P, Lan F, Lee AS, Gong T, Sanchez-Freire V, Wang Y, Diecke S, Sallam K, Knowles JW, Wang PJ, Nguyen PK, Bers DM, Robbins RC, Wu JC.

Circulation. 2013 Apr 23;127(16):1677-91. doi: 10.1161/CIRCULATIONAHA.113.001883. Epub 2013 Mar 21.

7.

Modelling diastolic dysfunction in induced pluripotent stem cell-derived cardiomyocytes from hypertrophic cardiomyopathy patients.

Wu H, Yang H, Rhee JW, Zhang JZ, Lam CK, Sallam K, Chang ACY, Ma N, Lee J, Zhang H, Blau HM, Bers DM, Wu JC.

Eur Heart J. 2019 Jun 20. pii: ehz326. doi: 10.1093/eurheartj/ehz326. [Epub ahead of print]

PMID:
31219556
8.

MLP-deficient mice exhibit a disruption of cardiac cytoarchitectural organization, dilated cardiomyopathy, and heart failure.

Arber S, Hunter JJ, Ross J Jr, Hongo M, Sansig G, Borg J, Perriard JC, Chien KR, Caroni P.

Cell. 1997 Feb 7;88(3):393-403.

9.

Abnormal calcium handling properties underlie familial hypertrophic cardiomyopathy pathology in patient-specific induced pluripotent stem cells.

Lan F, Lee AS, Liang P, Sanchez-Freire V, Nguyen PK, Wang L, Han L, Yen M, Wang Y, Sun N, Abilez OJ, Hu S, Ebert AD, Navarrete EG, Simmons CS, Wheeler M, Pruitt B, Lewis R, Yamaguchi Y, Ashley EA, Bers DM, Robbins RC, Longaker MT, Wu JC.

Cell Stem Cell. 2013 Jan 3;12(1):101-13. doi: 10.1016/j.stem.2012.10.010.

10.

Study familial hypertrophic cardiomyopathy using patient-specific induced pluripotent stem cells.

Han L, Li Y, Tchao J, Kaplan AD, Lin B, Li Y, Mich-Basso J, Lis A, Hassan N, London B, Bett GC, Tobita K, Rasmusson RL, Yang L.

Cardiovasc Res. 2014 Nov 1;104(2):258-69. doi: 10.1093/cvr/cvu205. Epub 2014 Sep 10.

11.

Differences in Contractile Function of Myofibrils within Human Embryonic Stem Cell-Derived Cardiomyocytes vs. Adult Ventricular Myofibrils Are Related to Distinct Sarcomeric Protein Isoforms.

Iorga B, Schwanke K, Weber N, Wendland M, Greten S, Piep B, Dos Remedios CG, Martin U, Zweigerdt R, Kraft T, Brenner B.

Front Physiol. 2018 Jan 19;8:1111. doi: 10.3389/fphys.2017.01111. eCollection 2017.

12.

Mutations in the human muscle LIM protein gene in families with hypertrophic cardiomyopathy.

Geier C, Perrot A, Ozcelik C, Binner P, Counsell D, Hoffmann K, Pilz B, Martiniak Y, Gehmlich K, van der Ven PF, Fürst DO, Vornwald A, von Hodenberg E, Nürnberg P, Scheffold T, Dietz R, Osterziel KJ.

Circulation. 2003 Mar 18;107(10):1390-5.

PMID:
12642359
13.

A Premature Termination Codon Mutation in MYBPC3 Causes Hypertrophic Cardiomyopathy via Chronic Activation of Nonsense-Mediated Decay.

Seeger T, Shrestha R, Lam CK, Chen C, McKeithan WL, Lau E, Wnorowski A, McMullen G, Greenhaw M, Lee J, Oikonomopoulos A, Lee S, Yang H, Mercola M, Wheeler M, Ashley EA, Yang F, Karakikes I, Wu JC.

Circulation. 2019 Feb 5;139(6):799-811. doi: 10.1161/CIRCULATIONAHA.118.034624.

PMID:
30586709
14.

MLP (muscle LIM protein) as a stress sensor in the heart.

Buyandelger B, Ng KE, Miocic S, Piotrowska I, Gunkel S, Ku CH, Knöll R.

Pflugers Arch. 2011 Jul;462(1):135-42. doi: 10.1007/s00424-011-0961-2. Epub 2011 Apr 13. Review.

15.

Hearts of surviving MLP-KO mice show transient changes of intracellular calcium handling.

Kemecsei P, Miklós Z, Bíró T, Marincsák R, Tóth BI, Komlódi-Pásztor E, Barnucz E, Mirk E, Van der Vusse GJ, Ligeti L, Ivanics T.

Mol Cell Biochem. 2010 Sep;342(1-2):251-60. doi: 10.1007/s11010-010-0492-8. Epub 2010 May 19.

PMID:
20490897
16.

Pharmacological Modulation of Calcium Homeostasis in Familial Dilated Cardiomyopathy: An In Vitro Analysis From an RBM20 Patient-Derived iPSC Model.

Wyles SP, Hrstka SC, Reyes S, Terzic A, Olson TM, Nelson TJ.

Clin Transl Sci. 2016 Jun;9(3):158-67. doi: 10.1111/cts.12393. Epub 2016 Apr 22.

17.

Deletion of the β2-adrenergic receptor prevents the development of cardiomyopathy in mice.

Fajardo G, Zhao M, Urashima T, Farahani S, Hu DQ, Reddy S, Bernstein D.

J Mol Cell Cardiol. 2013 Oct;63:155-64. doi: 10.1016/j.yjmcc.2013.07.016. Epub 2013 Aug 3.

18.

Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy.

Hayashi T, Arimura T, Itoh-Satoh M, Ueda K, Hohda S, Inagaki N, Takahashi M, Hori H, Yasunami M, Nishi H, Koga Y, Nakamura H, Matsuzaki M, Choi BY, Bae SW, You CW, Han KH, Park JE, Knöll R, Hoshijima M, Chien KR, Kimura A.

J Am Coll Cardiol. 2004 Dec 7;44(11):2192-201.

19.

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.

20.

Hypertrophic cardiomyopathy-linked mutation in troponin T causes myofibrillar disarray and pro-arrhythmic action potential changes in human iPSC cardiomyocytes.

Wang L, Kim K, Parikh S, Cadar AG, Bersell KR, He H, Pinto JR, Kryshtal DO, Knollmann BC.

J Mol Cell Cardiol. 2018 Jan;114:320-327. doi: 10.1016/j.yjmcc.2017.12.002. Epub 2017 Dec 5.

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