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Items: 1 to 20 of 36

1.

Molecular mechanics of cardiac myosin-binding protein C in native thick filaments.

Previs MJ, Beck Previs S, Gulick J, Robbins J, Warshaw DM.

Science. 2012 Sep 7;337(6099):1215-8. doi: 10.1126/science.1223602. Epub 2012 Aug 23.

2.

Unexpected myopathy associated with a mutation in MYBPC3 and misplacement of the cardiac myosin binding protein C.

Tajsharghi H, Leren TP, Abdul-Hussein S, Tulinius M, Brunvand L, Dahl HM, Oldfors A.

J Med Genet. 2010 Aug;47(8):575-7. doi: 10.1136/jmg.2009.072710. Epub 2009 Oct 26.

PMID:
19858127
3.

A common MYBPC3 (cardiac myosin binding protein C) variant associated with cardiomyopathies in South Asia.

Dhandapany PS, Sadayappan S, Xue Y, Powell GT, Rani DS, Nallari P, Rai TS, Khullar M, Soares P, Bahl A, Tharkan JM, Vaideeswar P, Rathinavel A, Narasimhan C, Ayapati DR, Ayub Q, Mehdi SQ, Oppenheimer S, Richards MB, Price AL, Patterson N, Reich D, Singh L, Tyler-Smith C, Thangaraj K.

Nat Genet. 2009 Feb;41(2):187-91. doi: 10.1038/ng.309. Epub 2009 Jan 18.

4.

Micro-exons of the cardiac myosin binding protein C gene: flanking introns contain a disproportionately large number of hypertrophic cardiomyopathy mutations.

Frank-Hansen R, Page SP, Syrris P, McKenna WJ, Christiansen M, Andersen PS.

Eur J Hum Genet. 2008 Sep;16(9):1062-9. doi: 10.1038/ejhg.2008.52. Epub 2008 Mar 12.

5.

Homozygosity for a novel splice site mutation in the cardiac myosin-binding protein C gene causes severe neonatal hypertrophic cardiomyopathy.

Xin B, Puffenberger E, Tumbush J, Bockoven JR, Wang H.

Am J Med Genet A. 2007 Nov 15;143A(22):2662-7.

PMID:
17937428
6.

Cardiac myosin-binding protein C is required for complete relaxation in intact myocytes.

Pohlmann L, Kröger I, Vignier N, Schlossarek S, Krämer E, Coirault C, Sultan KR, El-Armouche A, Winegrad S, Eschenhagen T, Carrier L.

Circ Res. 2007 Oct 26;101(9):928-38. Epub 2007 Sep 6.

7.

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
8.

Genome-wide mapping of modifier chromosomal loci for human hypertrophic cardiomyopathy.

Daw EW, Chen SN, Czernuszewicz G, Lombardi R, Lu Y, Ma J, Roberts R, Shete S, Marian AJ.

Hum Mol Genet. 2007 Oct 15;16(20):2463-71. Epub 2007 Jul 25.

9.

Two cases of severe neonatal hypertrophic cardiomyopathy caused by compound heterozygous mutations in the MYBPC3 gene.

Lekanne Deprez RH, Muurling-Vlietman JJ, Hruda J, Baars MJ, Wijnaendts LC, Stolte-Dijkstra I, Alders M, van Hagen JM.

J Med Genet. 2006 Oct;43(10):829-32. Epub 2006 May 5.

10.

Infantile restrictive cardiomyopathy resulting from a mutation in the cardiac troponin T gene.

Peddy SB, Vricella LA, Crosson JE, Oswald GL, Cohn RD, Cameron DE, Valle D, Loeys BL.

Pediatrics. 2006 May;117(5):1830-3.

PMID:
16651346
11.

A cardiac myosin binding protein C mutation in the Maine Coon cat with familial hypertrophic cardiomyopathy.

Meurs KM, Sanchez X, David RM, Bowles NE, Towbin JA, Reiser PJ, Kittleson JA, Munro MJ, Dryburgh K, Macdonald KA, Kittleson MD.

Hum Mol Genet. 2005 Dec 1;14(23):3587-93. Epub 2005 Oct 19.

PMID:
16236761
12.

Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling.

Ingles J, Doolan A, Chiu C, Seidman J, Seidman C, Semsarian C.

J Med Genet. 2005 Oct;42(10):e59.

13.

MYBPC3 polymorphism is a modifier for expression of cardiac hypertrophy in patients with hypertrophic cardiomyopathy.

Wang P, Zou Y, Fu C, Zhou X, Hui R.

Biochem Biophys Res Commun. 2005 Apr 8;329(2):796-9.

PMID:
15737656
14.

Gene mutations in adult Japanese patients with dilated cardiomyopathy.

Shimizu M, Ino H, Yasuda T, Fujino N, Uchiyama K, Mabuchi T, Konno T, Kaneda T, Fujita T, Masuta E, Katoh M, Funada A, Mabuchi H.

Circ J. 2005 Feb;69(2):150-3.

15.

Novel deletions in MYH7 and MYBPC3 identified in Indian families with familial hypertrophic cardiomyopathy.

Waldmüller S, Sakthivel S, Saadi AV, Selignow C, Rakesh PG, Golubenko M, Joseph PK, Padmakumar R, Richard P, Schwartz K, Tharakan JM, Rajamanickam C, Vosberg HP.

J Mol Cell Cardiol. 2003 Jun;35(6):623-36.

PMID:
12788380
16.

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.

17.

Novel mutations in sarcomeric protein genes in dilated cardiomyopathy.

Daehmlow S, Erdmann J, Knueppel T, Gille C, Froemmel C, Hummel M, Hetzer R, Regitz-Zagrosek V.

Biochem Biophys Res Commun. 2002 Oct 18;298(1):116-20.

PMID:
12379228
19.

Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly.

Niimura H, Patton KK, McKenna WJ, Soults J, Maron BJ, Seidman JG, Seidman CE.

Circulation. 2002 Jan 29;105(4):446-51.

20.

A newly created splice donor site in exon 25 of the MyBP-C gene is responsible for inherited hypertrophic cardiomyopathy with incomplete disease penetrance.

Moolman JA, Reith S, Uhl K, Bailey S, Gautel M, Jeschke B, Fischer C, Ochs J, McKenna WJ, Klues H, Vosberg HP.

Circulation. 2000 Mar 28;101(12):1396-402.

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