Identification of MYLK3 mutations in familial dilated cardiomyopathy

[1]  L. Calò,et al.  Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies. , 2016, Journal of the American College of Cardiology.

[2]  X. Puente,et al.  Congenital dilated cardiomyopathy caused by biallelic mutations in Filamin C , 2016, European Journal of Human Genetics.

[3]  Gaelen T. Hess,et al.  Translation readthrough mitigation , 2016, Nature.

[4]  Tsippi Iny Stein,et al.  The GeneCards Suite: From Gene Data Mining to Disease Genome Sequence Analyses , 2016, Current protocols in bioinformatics.

[5]  J. Eppig,et al.  Inferring gene-to-phenotype and gene-to-disease relationships at Mouse Genome Informatics: challenges and solutions , 2016, J. Biomed. Semant..

[6]  K. Okamura,et al.  Human genetic variation database, a reference database of genetic variations in the Japanese population , 2016, Journal of Human Genetics.

[7]  James Y. Zou Analysis of protein-coding genetic variation in 60,706 humans , 2015, Nature.

[8]  Y. Gondo,et al.  Degradation of Stop Codon Read-through Mutant Proteins via the Ubiquitin-Proteasome System Causes Hereditary Disorders* , 2015, The Journal of Biological Chemistry.

[9]  Gabor T. Marth,et al.  A global reference for human genetic variation , 2015, Nature.

[10]  Kengo Kinoshita,et al.  Rare variant discovery by deep whole-genome sequencing of 1,070 Japanese individuals , 2015, Nature Communications.

[11]  D. G. MacArthur,et al.  Guidelines for investigating causality of sequence variants in human disease , 2014, Nature.

[12]  J. Shendure,et al.  A general framework for estimating the relative pathogenicity of human genetic variants , 2014, Nature Genetics.

[13]  T. Burghardt,et al.  Ventricular myosin modifies in vitro step-size when phosphorylated. , 2014, Journal of molecular and cellular cardiology.

[14]  M. Drazner,et al.  2013 ACCF/AHA guideline for the management of heart failure: executive summary: a report of the American College of Cardiology Foundation/American Heart Association Task Force on practice guidelines. , 2013, Circulation.

[15]  M. Drazner,et al.  2013 ACCF/AHA guideline for the management of heart failure: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines. , 2013, Journal of the American College of Cardiology.

[16]  K. Boycott,et al.  Rare-disease genetics in the era of next-generation sequencing: discovery to translation , 2013, Nature Reviews Genetics.

[17]  Heng Li Aligning sequence reads, clone sequences and assembly contigs with BWA-MEM , 2013, 1303.3997.

[18]  P. Robinson,et al.  Doubly heterozygous LMNA and TTN mutations revealed by exome sequencing in a severe form of dilated cardiomyopathy , 2013, European Journal of Human Genetics.

[19]  E. McNally,et al.  Genetic mutations and mechanisms in dilated cardiomyopathy. , 2013, The Journal of clinical investigation.

[20]  M. Swanson,et al.  Myosin Light Chain Phosphorylation Is Critical for Adaptation to Cardiac Stress , 2012, Circulation.

[21]  Barry J Maron,et al.  Genetics of hypertrophic cardiomyopathy after 20 years: clinical perspectives. , 2012, Journal of the American College of Cardiology.

[22]  T. Inada,et al.  Dom34:hbs1 plays a general role in quality-control systems by dissociation of a stalled ribosome at the 3' end of aberrant mRNA. , 2012, Molecular cell.

[23]  R. Hershberger,et al.  Update 2011: clinical and genetic issues in familial dilated cardiomyopathy. , 2011, Journal of the American College of Cardiology.

[24]  Marco Merlo,et al.  Prevalence and prognostic significance of left ventricular reverse remodeling in dilated cardiomyopathy receiving tailored medical treatment. , 2011, Journal of the American College of Cardiology.

[25]  Helga Thorvaldsdóttir,et al.  Integrative Genomics Viewer , 2011, Nature Biotechnology.

[26]  J. Stull,et al.  Cardiac Myosin Light Chain Kinase Is Necessary for Myosin Regulatory Light Chain Phosphorylation and Cardiac Performance in Vivo* , 2010, The Journal of Biological Chemistry.

[27]  Gonçalo R. Abecasis,et al.  The Sequence Alignment/Map format and SAMtools , 2009, Bioinform..

[28]  N. Sato,et al.  Identification of Cardiac-Specific Myosin Light Chain Kinase , 2008, Circulation research.

[29]  K. Kawakami,et al.  A cardiac myosin light chain kinase regulates sarcomere assembly in the vertebrate heart. , 2007, The Journal of clinical investigation.

[30]  E. Kinoshita,et al.  Phosphate-binding Tag, a New Tool to Visualize Phosphorylated Proteins*S , 2006, Molecular & Cellular Proteomics.

[31]  R. Hershberger,et al.  Clinical and genetic issues in familial dilated cardiomyopathy. , 2005, Journal of the American College of Cardiology.

[32]  Roy Parker,et al.  Exosome-Mediated Recognition and Degradation of mRNAs Lacking a Termination Codon , 2002, Science.

[33]  H. Wen,et al.  The Overall Pattern of Cardiac Contraction Depends on a Spatial Gradient of Myosin Regulatory Light Chain Phosphorylation , 2001, Cell.

[34]  R. Hershberger,et al.  Clinical profiles of four large pedigrees with familial dilated cardiomyopathy: preliminary recommendations for clinical practice. , 1999, Journal of the American College of Cardiology.

[35]  J. Stull,et al.  Myosin light chain phosphorylation in vertebrate striated muscle: regulation and function. , 1993, The American journal of physiology.

[36]  J. Clegg,et al.  Haemoglobin Constant Spring—A Chain Termination Mutant ? , 1971, Nature.

[37]  Biykem Bozkurt,et al.  2013 ACCF/AHA guideline for the management of heart failure: a report of the American College of Cardiology Foundation/American Heart Association Task Force on practice guidelines. , 2013, Circulation.

[38]  Kenneth A Ellenbogen,et al.  2011 ACCF/AHA/HRS focused update on the management of patients with atrial fibrillation (Updating the 2006 Guideline): a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines. , 2011, Journal of the American College of Cardiology.

[39]  Z. Papp,et al.  Increased Ca2+-sensitivity of the contractile apparatus in end-stage human heart failure results from altered phosphorylation of contractile proteins. , 2003, Cardiovascular research.

[40]  J. Nietupski,et al.  CHALLENGES AND SOLUTIONS , 2001 .

[41]  K. Kinzler,et al.  A simplified system for generating recombinant adenoviruses. , 1998, Proceedings of the National Academy of Sciences of the United States of America.