Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy
about
Gamma1- and gamma2-syntrophins, two novel dystrophin-binding proteins localized in neuronal cellsDesmuslin, an intermediate filament protein that interacts with alpha -dystrobrevin and desminSarcoglycan subcomplex expression in normal human smooth muscleFunctional defects of a muscle-specific calpain, p94, caused by mutations associated with limb-girdle muscular dystrophy type 2AAbsence of gamma-sarcoglycan (35 DAG) in autosomal recessive muscular dystrophy linked to chromosome 13q12Interaction of p85 subunit of PI 3-kinase with insulin and IGF-1 receptors analysed by using the two-hybrid systemHILS1 is a spermatid-specific linker histone H1-like protein implicated in chromatin remodeling during mammalian spermiogenesisMutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D)A first missense mutation in the delta sarcoglycan gene associated with a severe phenotype and frequency of limb-girdle muscular dystrophy type 2F (LGMD2F) in Brazilian sarcoglycanopathies.A gene for autosomal recessive limb-girdle muscular dystrophy in Manitoba Hutterites maps to chromosome region 9q31-q33: evidence for another limb-girdle muscular dystrophy locus.Sarcospan-deficient mice maintain normal muscle functionDefective expression of plectin/HD1 in epidermolysis bullosa simplex with muscular dystrophyA high-coverage genome sequence from an archaic Denisovan individualmyotilin Mutation found in second pedigree with LGMD1AFilamin 2 (FLN2): A muscle-specific sarcoglycan interacting proteinCandidate-gene testing for orphan limb-girdle muscular dystrophiesEvidence for linkage disequilibrium in chromosome 13-linked Duchenne-like muscular dystrophy (LGMD2C)Mild and severe muscular dystrophy caused by a single gamma-sarcoglycan mutationThe seventh form of autosomal recessive limb-girdle muscular dystrophy is mapped to 17q11-12Adhalin gene mutations in patients with autosomal recessive childhood onset muscular dystrophy with adhalin deficiencyMultiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical originsDisruption of heart sarcoglycan complex and severe cardiomyopathy caused by beta sarcoglycan mutationsMolecular organization of sarcoglycan complex in mouse myotubes in cultureBrain dystrophin-glycoprotein complex: persistent expression of beta-dystroglycan, impaired oligomerization of Dp71 and up-regulation of utrophins in animal models of muscular dystrophyAnalysis of human sarcospan as a candidate gene for CFEOM1Muscle regeneration in dystrophin-deficient mdx mice studied by gene expression profilingGenetic Engineering of Dystroglycan in Animal Models of Muscular DystrophyExpression of gamma -sarcoglycan in smooth muscle and its interaction with the smooth muscle sarcoglycan-sarcospan complexPrivate beta- and gamma-sarcoglycan gene mutations: evidence of a founder effect in Northern ItalySarcoglycan isoforms in skeletal muscleLimb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethoninMutations in the caveolin-3 gene: When are they pathogenic?Dystrophin-glycoprotein complex and Ras and Rho GTPase signaling are altered in muscle atrophyStructure of the human laminin alpha2-chain gene (LAMA2), which is affected in congenital muscular dystrophyCharacterization of delta-sarcoglycan, a novel component of the oligomeric sarcoglycan complex involved in limb-girdle muscular dystrophyAge-related dystrophin-glycoprotein complex structure and function in the rat extensor digitorum longus and soleus muscleLimb-girdle muscular dystrophies: where next after six decades from the first proposal (Review).Genetic epidemiology of muscular dystrophies resulting from sarcoglycan gene mutations.How the magnitude of clinical severity and recurrence risk affects reproductive decisions in adult males with different forms of progressive muscular dystrophy.Abnormalities of dystrophin, the sarcoglycans, and laminin alpha2 in the muscular dystrophies.
P2860
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P2860
Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy
description
1994 nî lūn-bûn
@nan
1994 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
1994 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
1994年の論文
@ja
1994年論文
@yue
1994年論文
@zh-hant
1994年論文
@zh-hk
1994年論文
@zh-mo
1994年論文
@zh-tw
1994年论文
@wuu
name
Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy
@ast
Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy
@en
Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy
@en-gb
Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy
@nl
type
label
Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy
@ast
Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy
@en
Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy
@en-gb
Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy
@nl
prefLabel
Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy
@ast
Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy
@en
Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy
@en-gb
Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy
@nl
P2093
P3181
P1433
P1476
Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy
@en
P2093
M Jeanpierre
N B Romero
R D Anderson
V Allamand
P304
P3181
P356
10.1016/0092-8674(94)90527-4
P407
P577
1994-08-26T00:00:00Z