Related references
Note: Only part of the references are listed.Lamin A/C cardiomyopathy: young onset, high penetrance, and frequent need for heart transplantation
Nina Eide Hasselberg et al.
EUROPEAN HEART JOURNAL (2018)
Toward an effective exome-based genetic testing strategy in pediatric dilated cardiomyopathy
Johanna C. Herkert et al.
GENETICS IN MEDICINE (2018)
Epidemiology and Clinical Aspects of Genetic Cardiomyopathies
Daniele Masarone et al.
HEART FAILURE CLINICS (2018)
Genotype-phenotype associations in dilated cardiomyopathy: meta-analysis on more than 8000 individuals
Elham Kayvanpour et al.
CLINICAL RESEARCH IN CARDIOLOGY (2017)
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples
Roddy Walsh et al.
GENETICS IN MEDICINE (2017)
High proportion of genetic cases in patients with advanced cardiomyopathy including a novel homozygous Plakophilin 2-gene mutation
Baerbel Klauke et al.
PLOS ONE (2017)
Lamin A/C-Related Cardiac Disease Late Onset With a Variable and Mild Phenotype in a Large Cohort of Patients With the Lamin A/C p.(Arg331Gln) Founder Mutation
Edgar T. Hoorntje et al.
CIRCULATION-CARDIOVASCULAR GENETICS (2017)
Diagnostic Yield of Whole Exome Sequencing in Pediatric Dilated Cardiomyopathy
Pamela A. Long et al.
JOURNAL OF CARDIOVASCULAR DEVELOPMENT AND DISEASE (2017)
Current Diagnostic and Treatment Strategies for Specific Dilated Cardiomyopathies: A Scientific Statement From the American Heart Association
Biykem Bozkurt et al.
CIRCULATION (2016)
RNA Splicing Regulation and Dysregulation in the Heart
Maarten M. G. van den Hoogenhof et al.
CIRCULATION RESEARCH (2016)
Proposal for a revised definition of dilated cardiomyopathy, hypokinetic non-dilated cardiomyopathy, and its implications for clinical practice: a position statement of the ESC working group on myocardial and pericardial diseases
Yigal M. Pinto et al.
EUROPEAN HEART JOURNAL (2016)
A novel overlapping phenotype characterized by lipodystrophy, mandibular dysplasia, and dilated cardiomyopathy associated with a new mutation in the LMNA gene
Pierre Ambrosi et al.
INTERNATIONAL JOURNAL OF CARDIOLOGY (2016)
Disruption of the lamin A and matrin-3 interaction by myopathic LMNA mutations
Frederic F. Depreux et al.
HUMAN MOLECULAR GENETICS (2015)
A Novel Mutation in Lamin A/C Causing Familial Dilated Cardiomyopathy Associated With Sudden Cardiac Death
Alexandra Perez-Serra et al.
JOURNAL OF CARDIAC FAILURE (2015)
Targeted 46-gene and clinical exome sequencing for mutations causing cardiomyopathies
Stephan Waldmueller et al.
MOLECULAR AND CELLULAR PROBES (2015)
hnRNP U protein is required for normal pre-mRNA splicing and postnatal heart development and function
Junqiang Ye et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2015)
Repression of the Central Splicing Regulator RBFox2 Is Functionally Linked to Pressure Overload-Induced Heart Failure
Chaoliang Wei et al.
CELL REPORTS (2015)
Atlas of the clinical genetics of human dilated cardiomyopathy
Jan Haas et al.
EUROPEAN HEART JOURNAL (2015)
Clinical and Functional Characterization of a Novel Mutation in Lamin A/C Gene in a Multigenerational Family with Arrhythmogenic Cardiac Laminopathy
Cinzia Forleo et al.
PLOS ONE (2015)
Lamin A/C mutations in dilated cardiomyopathy
Frederique Tesson et al.
CARDIOLOGY JOURNAL (2014)
RBM24 Is a Major Regulator of Muscle-Specific Alternative Splicing
Jiwen Yang et al.
DEVELOPMENTAL CELL (2014)
The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing
Trevor J. Pugh et al.
GENETICS IN MEDICINE (2014)
CaMKIIdelta subtypes: localization and function
Charles B. B. Gray et al.
FRONTIERS IN PHARMACOLOGY (2014)
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
Clyde W. Yancy et al.
CIRCULATION (2013)
Gender-specific differences in major cardiac events and mortality in lamin A/C mutation carriers
Ingrid A. W. van Rijsingen et al.
EUROPEAN JOURNAL OF HEART FAILURE (2013)
Lamin A/C mutation is independently associated with an increased risk of arterial and venous thromboembolic complications
Ingrid A. W. van Rijsingen et al.
INTERNATIONAL JOURNAL OF CARDIOLOGY (2013)
Genetic mutations and mechanisms in dilated cardiomyopathy
Elizabeth M. McNally et al.
JOURNAL OF CLINICAL INVESTIGATION (2013)
Dilated cardiomyopathy: the complexity of a diverse genetic architecture
Ray E. Hershberger et al.
NATURE REVIEWS CARDIOLOGY (2013)
The nuclear lamins: flexibility in function
Brian Burke et al.
NATURE REVIEWS MOLECULAR CELL BIOLOGY (2013)
A Census of Human Soluble Protein Complexes
Pierre C. Havugimana et al.
CELL (2012)
Abnormal Termination of Ca2+ Release Is a Common Defect of RyR2 Mutations Associated With Cardiomyopathies
Yijun Tang et al.
CIRCULATION RESEARCH (2012)
Genetic variation in the alternative splicing regulator RBM20 is associated with dilated cardiomyopathy
Marwan M. Refaat et al.
HEART RHYTHM (2012)
A promiscuous biotin ligase fusion protein identifies proximal and interacting proteins in mammalian cells
Kyle J. Roux et al.
JOURNAL OF CELL BIOLOGY (2012)
Quantitative Expression of the Mutated Lamin A/C Gene in Patients With Cardiolaminopathy
Nupoor Narula et al.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2012)
Risk Factors for Malignant Ventricular Arrhythmias in Lamin A/C Mutation Carriers A European Cohort Study
Ingrid A. W. van Rijsingen et al.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2012)
Truncations of Titin Causing Dilated Cardiomyopathy
Daniel S. Herman et al.
NEW ENGLAND JOURNAL OF MEDICINE (2012)
A truncated lamin A in the Lmna-/- mouse line Implications for the understanding of laminopathies
Daniel Jahn et al.
NUCLEUS-AUSTIN (2012)
Cardiomyopathy Classification: Ongoing Debate in the Genomics Era
Charles McCartan et al.
BIOCHEMISTRY RESEARCH INTERNATIONAL (2012)
Clinical and genetic heterogeneity in laminopathies
Anne T. Bertrand et al.
BIOCHEMICAL SOCIETY TRANSACTIONS (2011)
Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy
Gilles Millat et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2011)
Desmosomal protein gene mutations in patients with idiopathic dilated cardiomyopathy undergoing cardiac transplantation: a clinicopathological study
Pablo Garcia-Pavia et al.
HEART (2011)
Update 2011: Clinical and Genetic Issues in Familial Dilated Cardiomyopathy
Ray E. Hershberger et al.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2011)
Rare variant mutations identified in pediatric patients with dilated cardiomyopathy
Evadnie Rampersaud et al.
PROGRESS IN PEDIATRIC CARDIOLOGY (2011)
Identification of Novel Mutations in RBM20 in Patients with Dilated Cardiomyopathy
Duanxiang Li et al.
CTS-CLINICAL AND TRANSLATIONAL SCIENCE (2010)
Direct interaction between hnRNP-M and CDC5L/PLRG1 proteins affects alternative splice site choice
David Lleres et al.
EMBO REPORTS (2010)
A novel custom resequencing array for dilated cardiomyopathy
Rebekah S. Zimmerman et al.
GENETICS IN MEDICINE (2010)
Familial Dilated Cardiomyopathy Secondary to Dystrophin Splice Site Mutation
Dita Obler et al.
JOURNAL OF CARDIAC FAILURE (2010)
Validation of high-resolution DNA melting analysis for mutation scanning of the LMNA gene
Gilles Millat et al.
CLINICAL BIOCHEMISTRY (2009)
SRp38 Regulates Alternative Splicing and Is Required for Ca2+ Handling in the Embryonic Heart
Ying Feng et al.
DEVELOPMENTAL CELL (2009)
Mutations in Ribonucleic Acid Binding Protein Gene Cause Familial Dilated Cardiomyopathy
Katharine M. Brauch et al.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2009)
Lamin A/C mutation analysis in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy
Sharie B. Parks et al.
AMERICAN HEART JOURNAL (2008)
The human intermediate filament database: Comprehensive information on a gene family involved in many human diseases
Ildiko Szeverenyi et al.
HUMAN MUTATION (2008)
Long-term outcome and risk stratification in dilated cardiolaminopathies
Michele Pasotti et al.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2008)
Alternative isoform regulation in human tissue transcriptomes
Eric T. Wang et al.
NATURE (2008)
The splicing factor SC35 has an active role in transcriptional elongation
Shengrong Lin et al.
NATURE STRUCTURAL & MOLECULAR BIOLOGY (2008)
Classification of the cardiomyopathies: a position statement from the european society of cardiology working group on myocardial and pericardial diseases
Perry Elliott et al.
EUROPEAN HEART JOURNAL (2008)
Laminopathies: A wide spectrum of human diseases
Howard J. Worman et al.
EXPERIMENTAL CELL RESEARCH (2007)
Alternative splicing of ryanodine receptors modulates cardiomyocyte Ca2+ signaling and susceptibility to apoptosis
Christopher H. George et al.
CIRCULATION RESEARCH (2007)
Prevalence of desmin mutations in dilated cardiomyopathy
Matthew R. G. Taylor et al.
CIRCULATION (2007)
Incidence, causes, and outcomes of dilated cardiomyopathy in children
Jeffrey A. Towbin et al.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2006)
Nuclear lamins: Laminopathies and their role in premature ageing
J. L. V. Broers et al.
PHYSIOLOGICAL REVIEWS (2006)
Contemporary definitions and classification of the cardiomyopathies - An American Heart Association Scientific Statement from the Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups; And Council on Epidemiology and Prevention
BJ Maron et al.
CIRCULATION (2006)
Novel progerin-interactive partner proteins hnRNP E1, EGF, Mel 18, and UBC9 interact with lamin A/C
N Zhong et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2005)
Electrophysiological and histopathological characteristics of progressive atrioventricular block accompanied by familial dilated cardiomyopathy caused by a novel mutation of lamin A/C gene
J Otomo et al.
JOURNAL OF CARDIOVASCULAR ELECTROPHYSIOLOGY (2005)
ASF/SF2-Regulated CaMKIIδ alternative splicing temporally reprograms excitation-contraction coupling in cardiac muscle
XD Xu et al.
CELL (2005)
Meta-analysis of clinical characteristics of 299 carriers of LMNA gene mutations: do lamin A/C mutations portend a high risk of sudden death?
JH van Berlo et al.
JOURNAL OF MOLECULAR MEDICINE-JMM (2005)
The nuclear lamina comes of age
Y Gruenbaum et al.
NATURE REVIEWS MOLECULAR CELL BIOLOGY (2005)
Dilated cardiomyopathy caused by tissue-specific ablation of SC35 in the heart
JH Ding et al.
EMBO JOURNAL (2004)
Altered titin expression, myocardial stiffness, and left ventricular function in patients with dilated cardiomyopathy
SF Nagueh et al.
CIRCULATION (2004)
A subset of human 35S U5 proteins, including Prp19, function prior to catalytic step 1 of splicing
OV Makarova et al.
EMBO JOURNAL (2004)
Formation of nuclear splicing factor compartments is independent of lamins A/C
J Vecerová et al.
MOLECULAR BIOLOGY OF THE CELL (2004)
Passive stiffness changes caused by upregulation of compliant titin isoforms in human dilated cardiomyopathy hearts
I Makarenko et al.
CIRCULATION RESEARCH (2004)
Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction
M Vatta et al.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2003)
Mutations in the muscle LIM protein and α-actinin-2 genes in dilated cardiomyopathy and endocardial fibroelastosis
B Mohapatra et al.
MOLECULAR GENETICS AND METABOLISM (2003)
Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations
P Sébillon et al.
JOURNAL OF MEDICAL GENETICS (2003)
Natural history of dilated cardiomyopathy due to lamin A/C gene mutations
MRG Taylor et al.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2003)
Dilated cardiomyopathy and heart failure caused by a mutation in phospholamban
JP Schmitt et al.
SCIENCE (2003)
Lamin A/C speckles mediate spatial organization of splicing factor compartments and RNA polymerase II transcription
RI Kumaran et al.
JOURNAL OF CELL BIOLOGY (2002)
Molecular mechanisms of inherited cardiomyopathies
D Fatkin et al.
PHYSIOLOGICAL REVIEWS (2002)
L-type Ca2+ channel density and regulation are altered in failing human ventricular myocytes and recover after support with mechanical assist devices
XW Chen et al.
CIRCULATION RESEARCH (2002)
Autosomal dominant dilated cardiomyopathy with atrioventricular block: A lamin A/C defect-related disease
E Arbustini et al.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2002)
Alteration of nuclear lamin organization inhibits RNA polymerase II-dependent transcription
TP Spann et al.
JOURNAL OF CELL BIOLOGY (2002)
The complete gene sequence of titin, expression of an unusual ≈700-kDa titin isoform, and its interaction with obscurin identify a novel Z-line to I-band linking system
ML Bang et al.
CIRCULATION RESEARCH (2001)
Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy
CA Brown et al.
AMERICAN JOURNAL OF MEDICAL GENETICS (2001)
Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy
M Kamisago et al.
NEW ENGLAND JOURNAL OF MEDICINE (2000)
Functional analysis of the human CDC5L complex and identification of its components by mass spectrometry
P Ajuh et al.
EMBO JOURNAL (2000)
High incidence of sudden death with conduction system and myocardial disease due to lamins A and C gene mutation
HM Bécane et al.
PACE-PACING AND CLINICAL ELECTROPHYSIOLOGY (2000)
Protein-protein interaction among hnRNPs shuttling between nucleus and cytoplasm
JH Kim et al.
JOURNAL OF MOLECULAR BIOLOGY (2000)
A novel marker for vertebrate embryonic heart, the EH-myomesin isoform
I Agarkova et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2000)
Lamin A/C gene mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement
GL Brodsky et al.
CIRCULATION (2000)
Nuclear lamin A/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy
H Cao et al.
HUMAN MOLECULAR GENETICS (2000)
Share Paper
