Evidence for troponin C (TNNC1) as a gene for autosomal recessive restrictive cardiomyopathy with fatal outcome in infancy

Does p.Q247X in TRIM63 Cause Human Hypertrophic Cardiomyopathy?

(2014) Rafał Płoski et al.   CIRCULATION RESEARCH

Effects of Calcium Binding and the Hypertrophic Cardiomyopathy A8V Mutation on the Dynamic Equilibrium between Closed and Open Conformations of the Regulatory N-Domain of Isolated Cardiac Troponin C

(2013) Nicole M. Cordina et al.   BIOCHEMISTRY

Titin Mutation in Familial Restrictive Cardiomyopathy

(2013) Yael Peled et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

Furthering the link between the sarcomere and primary cardiomyopathies: Restrictive cardiomyopathy associated with multiple mutations in genes previously associated with hypertrophic or dilated cardiomyopathy

(2011) Colleen Caleshu et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

HRS/EHRA Expert Consensus Statement on the State of Genetic Testing for the Channelopathies and Cardiomyopathies: This document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA)

(2011) M. J. Ackerman et al.   EUROPACE

Functional Characterization ofTNNC1Rare Variants Identified in Dilated Cardiomyopathy

(2011) Jose Renato Pinto et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Hypertrophic Cardiomyopathy-Linked Mutation D145E Drastically Alters Calcium Binding by the C-Domain of Cardiac Troponin C

(2010) Nicholas Swindle et al.   BIOCHEMISTRY

Coding Sequence Rare Variants Identified in MYBPC3 , MYH6 , TPM1 , TNNC1 , and TNNI3 From 312 Patients With Familial or Idiopathic Dilated Cardiomyopathy

(2010) Ray E. Hershberger et al.   Circulation-Cardiovascular Genetics

Strong Cross-bridges Potentiate the Ca2+Affinity Changes Produced by Hypertrophic Cardiomyopathy Cardiac Troponin C Mutants in Myofilaments

(2010) Jose Renato Pinto et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Cardiomyopathy: A Systematic Review of Disease-Causing Mutations in Myosin Heavy Chain 7 and Their Phenotypic Manifestations

(2009) R. Walsh et al.   CARDIOLOGY

A Functional and Structural Study of Troponin C Mutations Related to Hypertrophic Cardiomyopathy

(2009) Jose Renato Pinto et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Genetic and clinical profile of Indian patients of idiopathic restrictive cardiomyopathy with and without hypertrophy

(2009) Taranjit Singh Rai et al.   MOLECULAR AND CELLULAR BIOCHEMISTRY

A Novel Mutant Cardiac Troponin C Disrupts Molecular Motions Critical for Calcium Binding Affinity and Cardiomyocyte Contractility

(2008) Chee Chew Lim et al.   BIOPHYSICAL JOURNAL

Idiopathic restrictive cardiomyopathy in children is caused by mutations in cardiac sarcomere protein genes

(2008) J P Kaski et al.   HEART

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

(2008) Andrew P. Landstrom et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY