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Items: 1 to 20 of 116

1.
2.

PLN-encoded phospholamban mutation in a large cohort of hypertrophic cardiomyopathy cases: summary of the literature and implications for genetic testing.

Landstrom AP, Adekola BA, Bos JM, Ommen SR, Ackerman MJ.

Am Heart J. 2011 Jan;161(1):165-71. doi: 10.1016/j.ahj.2010.08.001.

PMID:
21167350
3.

A mutation in TNNC1-encoded cardiac troponin C, TNNC1-A31S, predisposes to hypertrophic cardiomyopathy and ventricular fibrillation.

Parvatiyar MS, Landstrom AP, Figueiredo-Freitas C, Potter JD, Ackerman MJ, Pinto JR.

J Biol Chem. 2012 Sep 14;287(38):31845-55. doi: 10.1074/jbc.M112.377713. Epub 2012 Jul 18.

PMID:
22815480
4.

Molecular and functional characterization of novel hypertrophic cardiomyopathy susceptibility mutations in TNNC1-encoded troponin C.

Landstrom AP, Parvatiyar MS, Pinto JR, Marquardt ML, Bos JM, Tester DJ, Ommen SR, Potter JD, Ackerman MJ.

J Mol Cell Cardiol. 2008 Aug;45(2):281-8. doi: 10.1016/j.yjmcc.2008.05.003. Epub 2008 May 11.

PMID:
18572189
5.

Mutations in JPH2-encoded junctophilin-2 associated with hypertrophic cardiomyopathy in humans.

Landstrom AP, Weisleder N, Batalden KB, Bos JM, Tester DJ, Ommen SR, Wehrens XH, Claycomb WC, Ko JK, Hwang M, Pan Z, Ma J, Ackerman MJ.

J Mol Cell Cardiol. 2007 Jun;42(6):1026-35. Epub 2007 Apr 18.

PMID:
17509612
6.

Desensitization of myofilaments to Ca2+ as a therapeutic target for hypertrophic cardiomyopathy with mutations in thin filament proteins.

Alves ML, Dias FA, Gaffin RD, Simon JN, Montminy EM, Biesiadecki BJ, Hinken AC, Warren CM, Utter MS, Davis RT 3rd, Sadayappan S, Robbins J, Wieczorek DF, Solaro RJ, Wolska BM.

Circ Cardiovasc Genet. 2014 Apr;7(2):132-43. doi: 10.1161/CIRCGENETICS.113.000324. Epub 2014 Feb 28.

PMID:
24585742
7.

Phospholamban gene mutations are not associated with hypertrophic cardiomyopathy in a Northern Greek population.

Kalemi T, Efthimiadis G, Zioutas D, Lambropoulos A, Mitakidou A, Giannakoulas G, Vassilikos V, Karvounis H, Kotsis A, Parharidis G, Louridas G.

Biochem Genet. 2005 Dec;43(11-12):637-42.

PMID:
16382369
8.

Genetic screening of calcium regulation genes in familial hypertrophic cardiomyopathy.

Chiu C, Tebo M, Ingles J, Yeates L, Arthur JW, Lind JM, Semsarian C.

J Mol Cell Cardiol. 2007 Sep;43(3):337-43. Epub 2007 Jun 30.

PMID:
17655857
9.

The molecular genetic basis for hypertrophic cardiomyopathy.

Marian AJ, Roberts R.

J Mol Cell Cardiol. 2001 Apr;33(4):655-70. Review.

PMID:
11273720
10.

Mechanisms of disease: hypertrophic cardiomyopathy.

Frey N, Luedde M, Katus HA.

Nat Rev Cardiol. 2011 Oct 25;9(2):91-100. doi: 10.1038/nrcardio.2011.159. Review.

PMID:
22027658
11.

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
12.

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.

PMID:
16352453
13.

Junctophilin-2 expression silencing causes cardiocyte hypertrophy and abnormal intracellular calcium-handling.

Landstrom AP, Kellen CA, Dixit SS, van Oort RJ, Garbino A, Weisleder N, Ma J, Wehrens XH, Ackerman MJ.

Circ Heart Fail. 2011 Mar;4(2):214-23. doi: 10.1161/CIRCHEARTFAILURE.110.958694. Epub 2011 Jan 7.

PMID:
21216834
14.

Mutations in Troponin that cause HCM, DCM AND RCM: what can we learn about thin filament function?

Willott RH, Gomes AV, Chang AN, Parvatiyar MS, Pinto JR, Potter JD.

J Mol Cell Cardiol. 2010 May;48(5):882-92. doi: 10.1016/j.yjmcc.2009.10.031. Epub 2009 Nov 12. Review.

PMID:
19914256
15.

Hypertrophic cardiomyopathy caused by a novel alpha-tropomyosin mutation (V95A) is associated with mild cardiac phenotype, abnormal calcium binding to troponin, abnormal myosin cycling, and poor prognosis.

Karibe A, Tobacman LS, Strand J, Butters C, Back N, Bachinski LL, Arai AE, Ortiz A, Roberts R, Homsher E, Fananapazir L.

Circulation. 2001 Jan 2;103(1):65-71.

PMID:
11136687
16.

[Familial hypertrophic cardiomyopathy: genes, mutations and animal models. A review].

Ramírez CD, Padrón R.

Invest Clin. 2004 Mar;45(1):69-99. Review. Spanish.

PMID:
15058760
17.

Mutation of junctophilin type 2 associated with hypertrophic cardiomyopathy.

Matsushita Y, Furukawa T, Kasanuki H, Nishibatake M, Kurihara Y, Ikeda A, Kamatani N, Takeshima H, Matsuoka R.

J Hum Genet. 2007;52(6):543-8. Epub 2007 May 3.

PMID:
17476457
18.

Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy.

Erdmann J, Daehmlow S, Wischke S, Senyuva M, Werner U, Raible J, Tanis N, Dyachenko S, Hummel M, Hetzer R, Regitz-Zagrosek V.

Clin Genet. 2003 Oct;64(4):339-49.

PMID:
12974739
19.

Genetic basis of hypertrophic cardiomyopathy: from bench to the clinics.

Alcalai R, Seidman JG, Seidman CE.

J Cardiovasc Electrophysiol. 2008 Jan;19(1):104-10. Epub 2007 Oct 4. Review.

PMID:
17916152
20.

Emerging role of junctophilin-2 as a regulator of calcium handling in the heart.

Garbino A, Wehrens XH.

Acta Pharmacol Sin. 2010 Sep;31(9):1019-21. doi: 10.1038/aps.2010.116. Epub 2010 Aug 9. Review.

PMID:
20694023

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