Literature DB >> 11186938

Expression of HCM causing mutations: lessons learnt from genotype-phenotype studies of the South African founder MYH7 A797T mutation.

J Moolman-Smook, W De Lange, V Corfield, P Brink.   

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Year:  2000        PMID： 11186938      PMCID： PMC1734508          DOI： 10.1136/jmg.37.12.951

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  7 in total

Review 1.  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

2.  Aggregate penetrance of genomic variants for actionable disorders in European and African Americans.

Authors:  Pradeep Natarajan; Nina B Gold; Alexander G Bick; Heather McLaughlin; Peter Kraft; Heidi L Rehm; Gina M Peloso; James G Wilson; Adolfo Correa; Jonathan G Seidman; Christine E Seidman; Sekar Kathiresan; Robert C Green
Journal:  Sci Transl Med       Date:  2016-11-09       Impact factor: 17.956

3.  The MYH7 p.R787H mutation causes hypertrophic cardiomyopathy in two unrelated families.

Authors:  G Purushotham; K Madhumohan; Mohammad Anwaruddin; Ha Nagarajaram; Vuppaladadhiam Hariram; Calambur Narasimhan; Murali D Bashyam
Journal:  Exp Clin Cardiol       Date:  2010

Review 4.  Determined to Fail--the Role of Genetic Mechanisms in Heart Failure.

Authors:  Elham Kayvanpour; Hugo A Katus; Benjamin Meder
Journal:  Curr Heart Fail Rep       Date:  2015-10

5.  Axial distribution of myosin binding protein-C is unaffected by mutations in human cardiac and skeletal muscle.

Authors:  Anupama Vydyanath; Christina A Gurnett; Steve Marston; Pradeep K Luther
Journal:  J Muscle Res Cell Motil       Date:  2012-03-14       Impact factor: 2.698

Review 6.  Mendelian-inherited heart disease: a gateway to understanding mechanisms in heart disease Update on work done at the University of Stellenbosch.

Authors:  P A Brink; J C Moolman-Smook; V A Corfield
Journal:  Cardiovasc J Afr       Date:  2009 Jan-Feb       Impact factor: 1.167

7.  A Dutch MYH7 founder mutation, p.(Asn1918Lys), is associated with early onset cardiomyopathy and congenital heart defects.

Authors:  I H M van der Linde; Y L Hiemstra; R Bökenkamp; A M van Mil; M H Breuning; C Ruivenkamp; S W Ten Broeke; R F Veldkamp; J I van Waning; M A van Slegtenhorst; K Y van Spaendonck-Zwarts; R H Lekanne Deprez; J C Herkert; L Boven; P A van der Zwaag; J D H Jongbloed; M Bootsma; D Q C M Barge-Schaapveld
Journal:  Neth Heart J       Date:  2017-09-01       Impact factor: 2.380
  7 in total

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