Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity. - Wikidata - wikimedia - TriplyDB

Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity.

Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity.

http://www.wikidata.org/entity/Q37346820

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Novel collagen VI mutations identified in Chinese patients with Ullrich congenital muscular dystrophy Congenital muscular dystrophies: a brief review Diagnostic approach to the congenital muscular dystrophies.Recessive COL6A2 C-globular missense mutations in Ullrich congenital muscular dystrophy: role of the C2a splice variant.Zebrafish models of collagen VI-related myopathies Whole-genome sequencing and the clinician: a tale of two cities The collagen VI-related myopathies Ullrich congenital muscular dystrophy and Bethlem myopathy.Collagen VI microfibril formation is abolished by an {alpha}2(VI) von Willebrand factor type A domain mutation in a patient with Ullrich congenital muscular dystrophy Characterization of a rare case of Ullrich congenital muscular dystrophy due to truncating mutations within the COL6A1 gene C-terminal domain: a case report.Aberrant mitochondria in a Bethlem myopathy patient with a homozygous amino acid substitution that destabilizes the collagen VI α2(VI) chain.ColVI myopathies: where do we stand, where do we go?Position of glycine substitutions in the triple helix of COL6A1, COL6A2, and COL6A3 is correlated with severity and mode of inheritance in collagen VI myopathies.Bethlem myopathy: An autosomal dominant myopathy with flexion contractures, keloids, and follicular hyperkeratosis Congenital muscular dystrophy. Part II: a review of pathogenesis and therapeutic perspectives.Consensus statement on standard of care for congenital muscular dystrophies.The collagen VI-related myopathies: muscle meets its matrix.Ullrich Congenital Muscular Dystrophy (UCMD): Clinical and Genetic Correlations.The collagenopathies: review of clinical phenotypes and molecular correlations.Skeletal muscle fibroblasts in health and disease.Dominant-negative effects of COL7A1 mutations can be rescued by controlled overexpression of normal collagen VII.Early onset collagen VI myopathies: Genetic and clinical correlations.Hedgehog signaling and laminin play unique and synergistic roles in muscle development.Clinical, Pathologic, and Genetic Features of Collagen VI-Related Myopathy in Korea.Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy.Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders.

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P2860

Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity.

http://www.wikidata.org/entity/Q37346820

description

article científic

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article scientifique

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articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on September 2008

@en

vedecký článok

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vetenskaplig artikel

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videnskabelig artikel

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vědecký článek

@cs

name

Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity.

@en

Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity.

@nl

type

label

Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity.

@en

Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity.

@nl

prefLabel

Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity.

@en

Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity.

@nl

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Annals of Neurology

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Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity.

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David Mowat

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Kathryn N North

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Laura Zamurs

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Matthias Mörgelin

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Melita Irving

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Naomi E Adams

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Naomi L Baker

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Nicholas J C Smith

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Phillipa J Lamont

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Rachel A Peat

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P2860

Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures

Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy

Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI

Collagen VI related muscle disorders

Bethlem myopathy: a slowly progressive congenital muscular dystrophy with contractures

A heterozygous splice site mutation in COL6A1 leading to an in-frame deletion of the alpha1(VI) collagen chain in an italian family affected by bethlem myopathy

Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype

Collagen type VI and related disorders: Bethlem myopathy and Ullrich scleroatonic muscular dystrophy

The role of the alpha3(VI) chain in collagen VI assembly. Expression of an alpha3(VI) chain lacking N-terminal modules N10-N7 restores collagen VI assembly, secretion, and matrix deposition in an alpha3(VI)-deficient cell line

Missense mutation in a von Willebrand factor type A domain of the alpha 3(VI) collagen gene (COL6A3) in a family with Bethlem myopathy

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294-303

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scholarly article

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10.1002/ANA.21439

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3

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64

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John F. Bateman

Katherine Mathews

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2008-09-01T00:00:00Z

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