Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy
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Three novel collagen VI chains, alpha4(VI), alpha5(VI), and alpha6(VI)Cyclosporin A corrects mitochondrial dysfunction and muscle apoptosis in patients with collagen VI myopathiesCollagen VI related muscle disordersNovel collagen VI mutations identified in Chinese patients with Ullrich congenital muscular dystrophyCongenital muscular dystrophies: a brief reviewThe C5 domain of the collagen VI alpha3(VI) chain is critical for extracellular microfibril formation and is present in the extracellular matrix of cultured cellsA mouse model for dominant collagen VI disorders: heterozygous deletion of Col6a3 Exon 16A structure of a collagen VI VWA domain displays N and C termini at opposite sides of the protein.Diagnostic approach to the congenital muscular dystrophies.Identification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-related myopathiesRecessive COL6A2 C-globular missense mutations in Ullrich congenital muscular dystrophy: role of the C2a splice variant.CMG2/ANTXR2 regulates extracellular collagen VI which accumulates in hyaline fibromatosis syndromeAllele-specific Gene Silencing of Mutant mRNA Restores Cellular Function in Ullrich Congenital Muscular Dystrophy Fibroblasts.Investigation of post-transcriptional gene regulatory networks associated with autism spectrum disorders by microRNA expression profiling of lymphoblastoid cell lines.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 dystrophyMitochondrial dysfunction and defective autophagy in the pathogenesis of collagen VI muscular dystrophies.The expanded collagen VI family: new chains and new questionsTherapy of collagen VI-related myopathies (Bethlem and Ullrich).Defective collagen VI α6 chain expression in the skeletal muscle of patients with collagen VI-related myopathiesAberrant 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?Mitochondrial dysfunction in the pathogenesis of Ullrich congenital muscular dystrophy and prospective therapy with cyclosporinsRecessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia.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.Incidental medical information in whole-exome sequencing.Mosaicism for dominant collagen 6 mutations as a cause for intrafamilial phenotypic variabilityA mutant dec-1 transgene induces dominant female sterility in Drosophila melanogaster.Down Syndrome Related Muscle Hypotonia: Association with COL6A3 Functional SNP rs2270669.Flow cytometry analysis: a quantitative method for collagen VI deficiency screeningSuccessful heart transplantation from a donor with Ullrich congenital muscular dystrophy.Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity.Congenital muscular dystrophy. Part I: a review of phenotypical and diagnostic aspects.Congenital muscular dystrophy. Part II: a review of pathogenesis and therapeutic perspectives.The collagen VI-related myopathies: muscle meets its matrix.Annexin A2 mediates secretion of collagen VI, pulmonary elasticity and apoptosis of bronchial epithelial cells.Muscle Weakness and Fibrosis Due to Cell Autonomous and Non-cell Autonomous Events in Collagen VI Deficient Congenital Muscular DystrophyUllrich Congenital Muscular Dystrophy (UCMD): Clinical and Genetic Correlations.siRNA-mediated Allele-specific Silencing of a COL6A3 Mutation in a Cellular Model of Dominant Ullrich Muscular Dystrophy.The ever-expanding spectrum of congenital muscular dystrophies.
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P2860
Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy
description
im November 2004 veröffentlichter wissenschaftlicher Artikel
@de
scientific article published on 24 November 2004
@en
wetenschappelijk artikel
@nl
наукова стаття, опублікована в листопаді 2004
@uk
name
Dominant collagen VI mutations ...... congenital muscular dystrophy
@en
Dominant collagen VI mutations ...... congenital muscular dystrophy
@nl
type
label
Dominant collagen VI mutations ...... congenital muscular dystrophy
@en
Dominant collagen VI mutations ...... congenital muscular dystrophy
@nl
prefLabel
Dominant collagen VI mutations ...... congenital muscular dystrophy
@en
Dominant collagen VI mutations ...... congenital muscular dystrophy
@nl
P2093
P356
P1476
Dominant collagen VI mutations ...... congenital muscular dystrophy
@en
P2093
Matthias Mörgelin
Naomi L Baker
Nathalie Goemans
Rachel Peat
Shireen R Lamandé
P304
P356
10.1093/HMG/DDI025
P577
2004-11-24T00:00:00Z