Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy.
about
Multiple novel nesprin-1 and nesprin-2 variants act as versatile tissue-specific intracellular scaffoldsThe nuclear envelopathies and human diseasesMutant GlialCAM causes megalencephalic leukoencephalopathy with subcortical cysts, benign familial macrocephaly, and macrocephaly with retardation and autismThe inner nuclear membrane protein emerin regulates beta-catenin activity by restricting its accumulation in the nucleusProgeria: a rare genetic premature ageing disorderMutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathyMandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/CA novel homozygous p.Arg527Leu LMNA mutation in two unrelated Egyptian families causes overlapping mandibuloacral dysplasia and progeria syndromeHomozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouseLamin A/C truncation in dilated cardiomyopathy with conduction diseaseExpression and localization of nuclear proteins in autosomal-dominant Emery-Dreifuss muscular dystrophy with LMNA R377H mutationSkeletal Muscle Laminopathies: A Review of Clinical and Molecular FeaturesStructure of the globular tail of nuclear laminGenetic Variations Leading to Familial Dilated CardiomyopathyThe nuclear envelope in muscular dystrophy and cardiovascular diseasesMutations in the caveolin-3 gene: When are they pathogenic?Life at the edge: the nuclear envelope and human diseaseInherited conduction system abnormalities--one group of diseases, many genesLaminopathies and the long strange trip from basic cell biology to therapyMuscular dystrophy-associated SUN1 and SUN2 variants disrupt nuclear-cytoskeletal connections and myonuclear organizationFHL1 protein isoforms in Emery-Dreifuss muscular dystrophyActivation of MAPK pathways links LMNA mutations to cardiomyopathy in Emery-Dreifuss muscular dystrophy.Diseases of the nuclear envelope.A novel mutation in LRSAM1 causes axonal Charcot-Marie-Tooth disease with dominant inheritanceDeletion of the lmna gene induces growth delay and serum biochemical changes in C57BL/6 miceEmerinopathy and laminopathy clinical, pathological and molecular features of muscular dystrophy with nuclear envelopathy in Japan."Laminopathies": a wide spectrum of human diseases.Inner nuclear membrane proteins: impact on human disease.A promiscuous biotin ligase fusion protein identifies proximal and interacting proteins in mammalian cells.Polymorphisms in LMNA and near a SERPINA gene cluster are associated with cognitive function in older people.Several novel nuclear envelope transmembrane proteins identified in skeletal muscle have cytoskeletal associations.Molecular diagnosis of myocardial disease.Nuclear envelope proteins and neuromuscular diseases.Systematic identification of pathological lamin A interactors.From proteins to genes: immunoanalysis in the diagnosis of muscular dystrophies.LMNA cardiomyopathy: cell biology and genetics meet clinical medicine.Emerin in health and disease.Diagnostic immunohistochemistry in neuromuscular disorders.Nuclear mechanics in diseaseDilated cardiomyopathy: a tale of cytoskeletal proteins and beyond.
P2860
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P2860
Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy.
description
2000 nî lūn-bûn
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2000年の論文
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name
Different mutations in the LMN ...... ry-Dreifuss muscular dystrophy
@nl
Different mutations in the LMN ...... y-Dreifuss muscular dystrophy.
@ast
Different mutations in the LMN ...... y-Dreifuss muscular dystrophy.
@en
type
label
Different mutations in the LMN ...... ry-Dreifuss muscular dystrophy
@nl
Different mutations in the LMN ...... y-Dreifuss muscular dystrophy.
@ast
Different mutations in the LMN ...... y-Dreifuss muscular dystrophy.
@en
prefLabel
Different mutations in the LMN ...... ry-Dreifuss muscular dystrophy
@nl
Different mutations in the LMN ...... y-Dreifuss muscular dystrophy.
@ast
Different mutations in the LMN ...... y-Dreifuss muscular dystrophy.
@en
P2093
P2860
P50
P3181
P356
P1476
Different mutations in the LMN ...... ry-Dreifuss muscular dystrophy
@en
P2093
Biancalana V
Galluzzi G
Housmanowa-Petrusewicz I
Orstavik KH
Raffaele Di Barletta M
Romorini A
Schwartz K
P2860
P304
P3181
P356
10.1086/302869
P407
P577
2000-03-16T00:00:00Z