Literature DB >> 8268932

Identification of a new missense mutation at Arg403, a CpG mutation hotspot, in exon 13 of the beta-myosin heavy chain gene in hypertrophic cardiomyopathy.

J C Moolman1, P A Brink, V A Corfield.   

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Year:  1993        PMID： 8268932     DOI： 10.1093/hmg/2.10.1731

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN： 0964-6906            Impact factor:   6.150


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  11 in total

Review 1.  Sarcomeric proteins and familial hypertrophic cardiomyopathy: linking mutations in structural proteins to complex cardiovascular phenotypes.

Authors:  Jil C Tardiff
Journal:  Heart Fail Rev       Date:  2005-09       Impact factor: 4.214

2.  The in vitro motility activity of beta-cardiac myosin depends on the nature of the beta-myosin heavy chain gene mutation in hypertrophic cardiomyopathy.

Authors:  G Cuda; L Fananapazir; N D Epstein; J R Sellers
Journal:  J Muscle Res Cell Motil       Date:  1997-06       Impact factor: 2.698

3.  Cryo-EM structure of a human cytoplasmic actomyosin complex at near-atomic resolution.

Authors:  Julian von der Ecken; Sarah M Heissler; Salma Pathan-Chhatbar; Dietmar J Manstein; Stefan Raunser
Journal:  Nature       Date:  2016-06-20       Impact factor: 49.962

Review 4.  Genetics of inherited cardiomyopathies in Africa.

Authors:  Gasnat Shaboodien; Timothy F Spracklen; Stephen Kamuli; Polycarp Ndibangwi; Carla Van Niekerk; Ntobeko A B Ntusi
Journal:  Cardiovasc Diagn Ther       Date:  2020-04

5.  Identification of a new missense mutation in MyBP-C associated with hypertrophic cardiomyopathy.

Authors:  J C Moolman-Smook; B Mayosi; P Brink; V A Corfield
Journal:  J Med Genet       Date:  1998-03       Impact factor: 6.318

6.  The origins of hypertrophic cardiomyopathy-causing mutations in two South African subpopulations: a unique profile of both independent and founder events.

Authors:  J C Moolman-Smook; W J De Lange; E C Bruwer; P A Brink; V A Corfield
Journal:  Am J Hum Genet       Date:  1999-11       Impact factor: 11.025

7.  Coexistence of mitochondrial DNA and beta myosin heavy chain mutations in hypertrophic cardiomyopathy with late congestive heart failure.

Authors:  E Arbustini; R Fasani; P Morbini; M Diegoli; M Grasso; B Dal Bello; E Marangoni; P Banfi; N Banchieri; O Bellini; G Comi; J Narula; C Campana; A Gavazzi; C Danesino; M Viganò
Journal:  Heart       Date:  1998-12       Impact factor: 5.994

8.  Identification and genetic analysis of rare variants in myosin family genes in 412 Han Chinese congenital heart disease patients.

Authors:  Yunqian Zhang; Rui Peng; Hongyan Wang
Journal:  Mol Genet Genomic Med       Date:  2022-08-22       Impact factor: 2.473

9.  Clinical and prognostic evaluation of familial hypertrophic cardiomyopathy in two South African families with different cardiac beta myosin heavy chain gene mutations.

Authors:  B M Posen; J C Moolman; V A Corfield; P A Brink
Journal:  Br Heart J       Date:  1995-07

10.  The cardiac myosin heavy chain Arg-403-->Gln mutation that causes hypertrophic cardiomyopathy does not affect the actin- or ATP-binding capacities of two size-limited recombinant myosin heavy chain fragments.

Authors:  P Eldin; M Le Cunff; D Mornet; J J Leger
Journal:  Biochem J       Date:  1995-03-01       Impact factor: 3.857
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