Genotype-specific pathogenic effects in human dilated cardiomyopathy

A mutation in the glutamate-rich region of RNA-binding motif protein 20 causes dilated cardiomyopathy through missplicing of titin and impaired Frank–Starling mechanism

(2016) Abdelaziz Beqqali et al.   CARDIOVASCULAR RESEARCH

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples

(2016) Roddy Walsh et al.   GENETICS IN MEDICINE

Interplay between the effects of a Protein Kinase C phosphomimic (T204E) and a dilated cardiomyopathy mutation (K211Δ or R206W) in rat cardiac troponin T blunts the magnitude of muscle length-mediated crossbridge recruitment against the β-myosin heavy chain background

(2016) John Jeshurun Michael et al.   JOURNAL OF MUSCLE RESEARCH AND CELL MOTILITY

Differential impact of mechanical unloading on structural and nonstructural components of the extracellular matrix in advanced human heart failure

(2016) Siva S.V.P. Sakamuri et al.   Translational Research

A Systematic Review of Phenotypic Features Associated With Cardiac Troponin I Mutations in Hereditary Cardiomyopathies

(2015) Jens Mogensen et al.   CANADIAN JOURNAL OF CARDIOLOGY

Length-dependent activation is modulated by cardiac troponin I bisphosphorylation at Ser23 and Ser24 but not by Thr143 phosphorylation

(2014) Paul J. M. Wijnker et al.   AMERICAN JOURNAL OF PHYSIOLOGY-HEART AND CIRCULATORY PHYSIOLOGY

Sexual dimorphic response to exercise in hypertrophic cardiomyopathy-associated MYBPC3-targeted knock-in mice

(2014) Aref Najafi et al.   PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY

Analysis of the Molecular Pathogenesis of Cardiomyopathy-Causing cTnT Mutants I79N, ΔE96, and ΔK210

(2013) Fan Bai et al.   BIOPHYSICAL JOURNAL

Differential changes in titin domain phosphorylation increase myofilament stiffness in failing human hearts

(2013) Sebastian Kötter et al.   CARDIOVASCULAR RESEARCH

Familial dilated cardiomyopathy mutations uncouple troponin I phosphorylation from changes in myofibrillar Ca2+ sensitivity

(2013) Massimiliano Memo et al.   CARDIOVASCULAR RESEARCH

Perturbed Length-Dependent Activation in Human Hypertrophic Cardiomyopathy With Missense Sarcomeric Gene Mutations

(2013) Vasco Sequeira et al.   CIRCULATION RESEARCH

Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: overview of 10 years' experience

(2013) Karin Y. van Spaendonck-Zwarts et al.   EUROPEAN JOURNAL OF HEART FAILURE

Depressed Frank–Starling mechanism in the left ventricular muscle of the knock-in mouse model of dilated cardiomyopathy with troponin T deletion mutation ΔK210

(2013) Takahiro Inoue et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

Dilated cardiomyopathy: the complexity of a diverse genetic architecture

(2013) Ray E. Hershberger et al.   Nature Reviews Cardiology

Impact of site-specific phosphorylation of protein kinase A sites Ser23 and Ser24 of cardiac troponin I in human cardiomyocytes

(2012) Paul J. M. Wijnker et al.   AMERICAN JOURNAL OF PHYSIOLOGY-HEART AND CIRCULATORY PHYSIOLOGY

Disease-associated mutations in the coil 2B domain of human lamin A/C affect structural properties that mediate dimerization and intermediate filament formation

(2012) Fabrizio Gangemi et al.   JOURNAL OF STRUCTURAL BIOLOGY

Truncations of Titin Causing Dilated Cardiomyopathy

(2012) Daniel S. Herman et al.   NEW ENGLAND JOURNAL OF MEDICINE

Contractile Dysfunction Irrespective of the Mutant Protein in Human Hypertrophic Cardiomyopathy With Normal Systolic Function

(2011) Sabine J. van Dijk et al.   Circulation-Heart Failure

Recurrent and founder mutations in the Netherlands: mutation p.K217del in troponin T2, causing dilated cardiomyopathy

(2011) E. Otten et al.   Netherlands Heart Journal

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

Myofilament incorporation determines the stoichiometry of troponin I in transgenic expression and the rescue of a null mutation

(2009) Han-Zhong Feng et al.   ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS

PKC Phosphorylation of Titin’s PEVK Element

(2009) Carlos Hidalgo et al.   CIRCULATION RESEARCH

Identification and Functional Characterization of Cardiac Troponin I As a Novel Disease Gene in Autosomal Dominant Dilated Cardiomyopathy

(2009) Sebastian Carballo et al.   CIRCULATION RESEARCH

Clinical and Functional Characterization of TNNT2 Mutations Identified in Patients With Dilated Cardiomyopathy

(2009) Ray E. Hershberger et al.   Circulation-Cardiovascular Genetics

Lamin A/C mutation analysis in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy

(2008) Sharie B. Parks et al.   AMERICAN HEART JOURNAL

Identification of mutational hot spots in LMNA encoding lamin A/C in patients with familial dilated cardiomyopathy

(2008) Andreas Perrot et al.   BASIC RESEARCH IN CARDIOLOGY

The Role of Cardiac Troponin T Quantity and Function in Cardiac Development and Dilated Cardiomyopathy

(2008) Ferhaan Ahmad et al.   PLoS One

Deletion in TNNI3 gene is associated with restrictive cardiomyopathy

(2007) Anna Kostareva et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY