相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。Phenotype-driven molecular autopsy for sudden cardiac death
F. Cann et al.
CLINICAL GENETICS (2017)
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples
Roddy Walsh et al.
GENETICS IN MEDICINE (2017)
Age of heart disease presentation and dysmorphic nuclei in patients with LMNA mutations
Jason Q. Core et al.
PLOS ONE (2017)
Hutchinson-Gilford Progeria Syndrome: A premature aging disease caused by LMNA gene mutations
Susana Gonzalo et al.
AGEING RESEARCH REVIEWS (2017)
Hypertrophic remodelling in cardiac regulatory myosin light chain (MYL2) founder mutation carriers
Godelieve R. F. Claes et al.
EUROPEAN HEART JOURNAL (2016)
Familial partial lipodystrophy presenting as metabolic syndrome
Darwin Chan et al.
JOURNAL OF CLINICAL LIPIDOLOGY (2016)
Long-Term Arrhythmic and Nonarrhythmic Outcomes of Lamin A/C Mutation Carriers
Saurabh Kumar et al.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2016)
Analyses of more than 60,000 exomes questions the role of numerous genes previously associated with dilated cardiomyopathy
Nina Nouhravesh et al.
MOLECULAR GENETICS & GENOMIC MEDICINE (2016)
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
Sue Richards et al.
GENETICS IN MEDICINE (2015)
Identification of Medically Actionable Secondary Findings in the 1000 Genomes
Emily Olfson et al.
PLOS ONE (2015)
A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block
Francesco Villa et al.
IMMUNITY & AGEING (2014)
Structural Alterations of Lamin A Protein in Dilated Cardiomyopathy
Pritha Bhattacharjee et al.
BIOCHEMISTRY (2013)
Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: overview of 10 years' experience
Karin Y. van Spaendonck-Zwarts et al.
EUROPEAN JOURNAL OF HEART FAILURE (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)
Cytoplasmic localization of PML particles in laminopathies
F. Houben et al.
HISTOCHEMISTRY AND CELL BIOLOGY (2013)
Disease-associated mutations in the coil 2B domain of human lamin A/C affect structural properties that mediate dimerization and intermediate filament formation
Fabrizio Gangemi et al.
JOURNAL OF STRUCTURAL BIOLOGY (2013)
Mutations in LMNA Modulate the Lamin A - Nesprin-2 Interaction and Cause LINC Complex Alterations
Liu Yang et al.
PLOS ONE (2013)
Viscoelastic Behavior of Human Lamin A Proteins in the Context of Dilated Cardiomyopathy
Avinanda Banerjee et al.
PLOS ONE (2013)
Variants of the Lamin A/C (LMNA) Gene in Non-Valvular Atrial Fibrillation Patients A Possible Pathogenic Role of the Thr528Met Mutation
Michal Saj et al.
MOLECULAR DIAGNOSIS & THERAPY (2012)
Repetitive disruptions of the nuclear envelope invoke temporary loss of cellular compartmentalization in laminopathies
Winnok H. De Vos et al.
HUMAN MOLECULAR GENETICS (2011)
Novel LMNA Mutations in Patients With Emery-Dreifuss Muscular Dystrophy and Functional Characterization of Four LMNA Mutations
Juergen Scharner et al.
HUMAN MUTATION (2011)
Genetic and ultrastructural studies in dilated cardiomyopathy patients: a large deletion in the lamin A/C gene is associated with cardiomyocyte nuclear envelope disruption
Pallavi Gupta et al.
BASIC RESEARCH IN CARDIOLOGY (2010)
Loss of a DNA binding site within the tail of prelamin A contributes to altered heterochromatin anchorage by progerin
Francine Bruston et al.
FEBS LETTERS (2010)
Monoclonal Antibodies Specific for Disease-Associated Point-Mutants: Lamin A/C R453W and R482W
Marko Roblek et al.
PLOS ONE (2010)
The role of Lamin A/C mutations in Danish patients with idiopathic dilated cardiomyopathy
Daniel Vega Moller et al.
EUROPEAN JOURNAL OF HEART FAILURE (2009)
The R439C mutation in LMNA causes lamin oligomerization and susceptibility to oxidative stress
Valerie L. R. M. Verstraeten et al.
JOURNAL OF CELLULAR AND MOLECULAR MEDICINE (2009)
Obliteration of cardiomyocyte nuclear architecture in a patient with LMNA gene mutation
Anna Fidzianska et al.
JOURNAL OF THE NEUROLOGICAL SCIENCES (2008)
Heart-hand syndrome of Slovenian type: a new kind of laminopathy
L. Renou et al.
JOURNAL OF MEDICAL GENETICS (2008)
New metabolic phenotypes in laminopathies:: LMNA mutations in patients with severe metabolic syndrome
Aurélie Decaudain et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2007)
Phenotypic clustering of lamin A/C mutations in neuromuscular patients
S. Benedetti et al.
NEUROLOGY (2007)
Role of nuclear lamina-cytoskeleton interactions in the maintenance of cellular strength
F. Houben et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH (2007)
Compound heterozygosity for mutations in LMNA causes a Progeria syndrome without prelamin A accumulation
Valerie L. R. M. Verstraeten et al.
HUMAN MOLECULAR GENETICS (2006)
Both lamin A and lamin C mutations cause lamina instability as well as loss of internal nuclear lamin organization
JLV Broers et al.
EXPERIMENTAL CELL RESEARCH (2005)
Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations
A Muchir et al.
MUSCLE & NERVE (2004)
Nuclear envelope alterations in fibroblasts from LGMD1B patients carrying nonsense Y259X heterozygous or homozygous mutation in lamin A/C gene
A Muchir et al.
EXPERIMENTAL CELL RESEARCH (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)
Lamin A truncation in Hutchinson-Gilford progeria
A De Sandre-Giovannoli et al.
SCIENCE (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)
A new clinical condition linked to a novel mutation in lamins A and C with generalized lipoatrophy, insulin-resistant diabetes, disseminated leukomelanodermic papules, liver steatosis, and cardiomyopathy
F Caux et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2003)
Expression of lamin A mutated in the carboxyl-terminal tail generates an aberrant nuclear phenotype similar to that observed in cells from patients with Dunnigan-type partial lipodystrophy and Emery-Dreifuss muscular dystrophy
C Favreau et al.
EXPERIMENTAL CELL RESEARCH (2003)
Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes
M Vytopil et al.
JOURNAL OF MEDICAL GENETICS (2003)
Hauptmann-Thannhauser muscular dystrophy and differential diagnosis of myopathies associated with contractures
F Hanisch et al.
NERVENARZT (2002)
Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C
G Novelli et al.
AMERICAN JOURNAL OF HUMAN GENETICS (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)
Lamin A/C gene mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement
GL Brodsky et al.
CIRCULATION (2000)
LMNA, encoding lamin A/C, is mutated in partial lipodystrophy
S Shackleton et al.
NATURE GENETICS (2000)