The C5 domain of the collagen VI alpha3(VI) chain is critical for extracellular microfibril formation and is present in the extracellular matrix of cultured cells (Q28307074)

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English	The C5 domain of the collagen VI alpha3(VI) chain is critical for extracellular microfibril formation and is present in the extracellular matrix of cultured cells	scientific article

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The C5 domain of the collagen VI alpha3(VI) chain is critical for extracellular microfibril formation and is present in the extracellular matrix of cultured cells (English)

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extracellular matrix

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Matthias Mörgelin

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Shireen R Lamandé

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Shireen R Lamandé

1

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ORCID Public Data File 2021

author name string

Naomi E Adams

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Carly Selan

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Justin M Allen

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language of work or name

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publication date

16 June 2006

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Journal of Biological Chemistry

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281

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24

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16607-14

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Reduced collagen VI causes Bethlem myopathy: a heterozygous COL6A1 nonsense mutation results in mRNA decay and functional haploinsufficiency

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

1 reference

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

1 reference

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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

1 reference

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

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

1 reference

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New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype

1 reference

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Recombinant expression and properties of the Kunitz-type protease-inhibitor module from human type VI collagen alpha 3(VI) chain.

1 reference

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Electron-microscopical approach to a structural model of intima collagen

1 reference

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Structural diversity and domain composition of a unique collagenous fragment (intima collagen) obtained from human placenta

1 reference

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Kinked collagen VI tetramers and reduced microfibril formation as a result of Bethlem myopathy and introduced triple helical glycine mutations

1 reference

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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

1 reference

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Molecular assembly, secretion, and matrix deposition of type VI collagen

1 reference

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Abnormal type I collagen metabolism by cultured fibroblasts in lethal perinatal osteogenesis imperfecta

1 reference

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The C5 domain of Col6A3 is cleaved off from the Col6 fibrils immediately after secretion

1 reference

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

1 reference

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Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy.

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Collagen VI related muscle disorders

1 reference

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A rule for termination-codon position within intron-containing genes: when nonsense affects RNA abundance

1 reference

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Ullrich disease due to deficiency of collagen VI in the sarcolemma

1 reference

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Structural basis of type VI collagen dimer formation

1 reference

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21 January 2018

Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy

1 reference

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21 January 2018

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10.1074/JBC.M510192200

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