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Hutchinson-Gilford progeria patient-derived cardiomyocyte model of carrying LMNA gene variant c.1824 C > T
Cardiovascular diseases, atherosclerosis, and strokes are the most common causes of death in patients with Hutchinson-Gilford progeria syndrome...
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Emerin deficiency does not exacerbate cardiomyopathy in a murine model of Emery–Dreifuss muscular dystrophy caused by an LMNA gene mutation
Emery–Dreifuss muscular dystrophy (EDMD), caused by mutations in genes encoding nuclear envelope proteins, is clinically characterized by muscular...
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An alpha-helix variant p.Arg156Pro in LMNA as a cause of hereditary dilated cardiomyopathy: genetics and bioinfomatics exploration
LMNA gene encodes lamin A/C protein which participates in the construction of nuclear lamina, the mutations of LMNA result in a wide variety of...
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Systematic in vivo candidate evaluation uncovers therapeutic targets for LMNA dilated cardiomyopathy and risk of Lamin A toxicity
BackgroundDilated cardiomyopathy (DCM) is a severe, non-ischemic heart disease which ultimately results in heart failure (HF). Decades of research on...
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PRMT6/LMNA/CXCL12 signaling pathway regulated the osteo/odontogenic differentiation ability in dental stem cells isolated from apical papilla
Tooth loss and maxillofacial bone defect are common diseases, which seriously affect people’s health. Effective tooth and maxillofacial bone tissue...
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A Study of Gene Expression, Structure, and Contractility of iPSC-Derived Cardiac Myocytes from a Family with Heart Disease due to LMNA Mutation
Genetic mutations to the Lamin A/C gene ( LMNA ) can cause heart disease, but the mechanisms making cardiac tissues uniquely vulnerable to the...
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Integrated analysis reveals the alterations that LMNA interacts with euchromatin in LMNA mutation-associated dilated cardiomyopathy
BackgroundDilated cardiomyopathy (DCM) is a serious cardiac heterogeneous pathological disease, which may be caused by mutations in the LMNA gene....
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Gene expression profiling of fibroblasts in a family with LMNA-related cardiomyopathy reveals molecular pathways implicated in disease pathogenesis
BackgroundIntermediate filament proteins that construct the nuclear lamina of a cell include the Lamin A/C proteins encoded by the LMNA gene, and...
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Decoding Dystrophin Gene Mutations: Unraveling the Mysteries of Muscular Dystrophy
Muscular dystrophies are a group of human monogenic disorders causing muscle weaknesses and affecting mobility. Mutations in different genes cause...
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Nuclear Factor-κB Pathway Mediates the Molecular Pathogenesis of LMNA-Related Muscular Dystrophies
LMNA -related muscular dystrophies are caused by mutations of the LMNA gene. Inflammatory changes and cellular apoptosis are significant pathological...
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Targeting unfolded protein response reverts ER stress and ER Ca2+ homeostasis in cardiomyocytes expressing the pathogenic variant of Lamin A/C R321X
BackgroundWe previously demonstrated that an Italian family affected by a severe dilated cardiomyopathy (DCM) with history of sudden deaths at young...
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Somatic and germinal mosaicism in a Han Chinese family with laminopathies
“Laminopathies” refers to a wide spectrum of myopathies caused by mutations in the LMNA gene. These myopathies include limb girdle muscular dystrophy...
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Diagnostic and prognostic relevance of using large gene panels in the genetic testing of patients with dilated cardiomyopathy
It was previously suggested that increasing the number of genes on diagnostic gene panels could increase the genetic yield in patient with dilated...
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Genetic heterogeneity of cardiomyopathy and its correlation with patient care
BackgroundCardiomyopathy, which is a genetically and phenotypically heterogeneous pathological condition, is associated with increased morbidity and...
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Beyond gene-disease validity: capturing structured data on inheritance, allelic requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions
BackgroundAs the availability of genomic testing grows, variant interpretation will increasingly be performed by genomic generalists, rather than...
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Genetic characterization of dilated cardiomyopathy patients undergoing heart transplantation in the Chinese population by whole-exome sequencing
BackgroundDilated cardiomyopathy (DCM) is one of the most frequent causes of heart failure and heart transplantation (HTx). The genetic basis of DCM...
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Identification and functional characterization of BICD2 as a candidate disease gene in an consanguineous family with dilated cardiomyopathy
BackgroundFamilial dilated cardiomyopathy (DCM) is a genetic cardiomyopathy that is associated with reduced left ventricle function or systolic...
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LMNA-Related Muscular Dystrophy with Clinical Intrafamilial Variability
The LMNA gene is associated to a huge broad of phenotypes, including congenital Emery-Dreifuss muscular dystrophy and late-onset LMNA-related...
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Molecular investigation in individuals with orofacial clefts and microphthalmia-anophthalmia-coloboma spectrum
This study describes genomic findings among individuals with both orofacial clefts (OC) and microphthalmia/anophthalmia/coloboma (MAC) recorded in...
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Human Genetics of Cardiomyopathies
The identification of a disease-causing variant in a patient diagnosed with cardiomyopathy allows for presymptomatic testing in at risk relatives....