Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy
about
Skeletal muscle laminin and MDC1A: pathogenesis and treatment strategies.Absence of basement membranes after targeting the LAMC1 gene results in embryonic lethality due to failure of endoderm differentiationGamma1- and gamma2-syntrophins, two novel dystrophin-binding proteins localized in neuronal cellsForm and function: the laminin family of heterotrimersIdentification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosaMutations in the integrin alpha7 gene cause congenital myopathyType VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contracturesMLC1 is associated with the dystrophin-glycoprotein complex at astrocytic endfeetAbsence of integrin alpha 7 causes a novel form of muscular dystrophyMutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan.Identification of a new locus for a peculiar form of congenital muscular dystrophy with early rigidity of the spine, on chromosome 1p35-36.Mutation in the human acetylcholinesterase-associated collagen gene, COLQ, is responsible for congenital myasthenic syndrome with end-plate acetylcholinesterase deficiency (Type Ic)Assignment of the muscle-eye-brain disease gene to 1p32-p34 by linkage analysis and homozygosity mapping.Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophyDefective expression of plectin/HD1 in epidermolysis bullosa simplex with muscular dystrophyLaminin expression in adult and developing retinae: evidence of two novel CNS lamininsCollagen VI related muscle disordersThe laminin alpha chains: expression, developmental transitions, and chromosomal locations of alpha1-5, identification of heterotrimeric laminins 8-11, and cloning of a novel alpha3 isoformThe expanding phenotype of laminin alpha2 chain (merosin) abnormalities: case series and reviewThe small leucine-rich repeat proteoglycan biglycan binds to alpha-dystroglycan and is upregulated in dystrophic muscleThe zebrafish candyfloss mutant implicates extracellular matrix adhesion failure in laminin alpha2-deficient congenital muscular dystrophy.Diseased muscles that lack dystrophin or laminin-alpha2 have altered compositions and proliferation of mononuclear cell populationsOxidative Stress-Mediated Skeletal Muscle Degeneration: Molecules, Mechanisms, and TherapiesGenetic Engineering of Dystroglycan in Animal Models of Muscular DystrophyProteomic profiling of the dystrophin-deficient mdx phenocopy of dystrophinopathy-associated cardiomyopathyA splice site mutation in laminin-α2 results in a severe muscular dystrophy and growth abnormalities in zebrafishHanging on for the ride: adhesion to the extracellular matrix mediates cellular responses in skeletal muscle morphogenesis and diseaseA role of dystroglycan in schwannoma cell adhesion to lamininMild congenital muscular dystrophy in two patients with an internally deleted laminin alpha2-chainIntegrins (alpha7beta1) in muscle function and survival. Disrupted expression in merosin-deficient congenital muscular dystrophyCongenital muscular dystrophies: a brief reviewStructure 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 dystrophyCOL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humansPrimary structure, developmental expression, and immunolocalization of the murine laminin alpha4 chainGlycosylation defects: a new mechanism for muscular dystrophy?Deletion of the laminin alpha4 chain leads to impaired microvessel maturationDistribution and function of laminins in the neuromuscular system of developing, adult, and mutant micePresence of Laminin 5 Chain and Lack of Laminin 1 Chain during Human Muscle Development and in Muscular DystrophiesAutomated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy.
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P2860
Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy
description
1995 nî lūn-bûn
@nan
1995 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1995 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
1995年の論文
@ja
1995年論文
@yue
1995年論文
@zh-hant
1995年論文
@zh-hk
1995年論文
@zh-mo
1995年論文
@zh-tw
1995年论文
@wuu
name
Mutations in the laminin alpha ...... congenital muscular dystrophy
@ast
Mutations in the laminin alpha ...... congenital muscular dystrophy
@en
Mutations in the laminin alpha ...... congenital muscular dystrophy
@en-gb
Mutations in the laminin alpha ...... congenital muscular dystrophy
@nl
type
label
Mutations in the laminin alpha ...... congenital muscular dystrophy
@ast
Mutations in the laminin alpha ...... congenital muscular dystrophy
@en
Mutations in the laminin alpha ...... congenital muscular dystrophy
@en-gb
Mutations in the laminin alpha ...... congenital muscular dystrophy
@nl
prefLabel
Mutations in the laminin alpha ...... congenital muscular dystrophy
@ast
Mutations in the laminin alpha ...... congenital muscular dystrophy
@en
Mutations in the laminin alpha ...... congenital muscular dystrophy
@en-gb
Mutations in the laminin alpha ...... congenital muscular dystrophy
@nl
P2093
P2860
P921
P3181
P356
P1433
P1476
Mutations in the laminin alpha ...... congenital muscular dystrophy
@en
P2093
A Helbling-Leclerc
H Topaloglu
K Schwartz
K Tryggvason
P2860
P2888
P3181
P356
10.1038/NG1095-216
P407
P577
1995-10-01T00:00:00Z
P6179
1050362390