Diagnostic yield, interpretation, and clinical utility of mutation screening of sarcomere encoding genes in Danish hypertrophic cardiomyopathy patients and relatives.
Andersen, Paal Skytt; Havndrup, Ole; Hougs, Lotte; Sørensen, Karina M; Jensen, Morten; Larsen, Lars Allan; Hedley, Paula; Thomsen, Alex Rojas Bie; Moolman-Smook, Johanna; Christiansen, Michael; Bundgaard, Henning.
; 30(3): 363-70, 2009 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-19035361
Perturbed length-dependent activation in human hypertrophic cardiomyopathy with missense sarcomeric gene mutations.
Genetics of hypertrophic cardiomyopathy.
Somatic MYH7, MYBPC3, TPM1, TNNT2 and TNNI3 mutations in sporadic hypertrophic cardiomyopathy.
Interaction between cardiac myosin-binding protein C and formin Fhod3.
Allosteric effects of cardiac troponin TNT1 mutations on actomyosin binding: a novel pathogenic mechanism for hypertrophic cardiomyopathy.
The cMyBP-C HCM variant L348P enhances thin filament activation through an increased shift in tropomyosin position.
Genetic Pathogenesis of Hypertrophic and Dilated Cardiomyopathy.
Genetics of hypertrophic cardiomyopathy: A review of current state.
Rilevanza clinica del test genetico nella cardiomiopatia ipertrofica.
Troponin C Mutations Partially Stabilize the Active State of Regulated Actin and Fully Stabilize the Active State When Paired with Δ14 TnT.