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 (Q34236492)

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English	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	scientific article

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11 February 2020

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 (English)

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11 February 2020

congenital disorder

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Ullrich congenital muscular dystrophy

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John F. Bateman

7

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11 February 2020

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11 February 2020

Shireen R Lamandé

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11 February 2020

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Kathryn N North

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11 February 2020

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Leona D Tooley

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11 February 2020

Laura K Zamurs

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11 February 2020

Nicola Beecher

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11 February 2020

Naomi L Baker

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11 February 2020

Rachel A Peat

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11 February 2020

Naomi E Adams

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11 February 2020

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21 August 2010

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11 February 2020

Journal of Biological Chemistry

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11 February 2020

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11 February 2020

43

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11 February 2020

33567-33576

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11 February 2020

describes a project that uses

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11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2963345/fullTextXML

based on heuristic

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Recessive COL6A2 C-globular missense mutations in Ullrich congenital muscular dystrophy: role of the C2a splice variant.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2963345

6 July 2018

Autosomal recessive Bethlem myopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2963345

6 July 2018

Autosomal recessive inheritance of classic Bethlem myopathy

1 reference

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6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2963345

6 July 2018

Three novel collagen VI chains, alpha4(VI), alpha5(VI), and alpha6(VI)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2963345

6 July 2018

The Strep-tag system for one-step purification and high-affinity detection or capturing of proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2963345

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2963345

6 July 2018

Multiple epiphyseal dysplasia mutations in MATN3 cause misfolding of the A-domain and prevent secretion of mutant matrilin-3

1 reference

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6 July 2018

Collagen VI related muscle disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2963345

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2963345

6 July 2018

Ullrich disease due to deficiency of collagen VI in the sarcolemma

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2963345

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2963345

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2963345

6 July 2018

Collagen X chains harboring Schmid metaphyseal chondrodysplasia NC1 domain mutations are selectively retained and degraded in stably transfected cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2963345

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2963345

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Interaction between collagen and the alpha(2) I-domain of integrin alpha(2)beta(1). Critical role of conserved residues in the metal ion-dependent adhesion site (MIDAS) region

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2963345

6 July 2018

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

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2963345

6 July 2018

A novel divalent cation-binding site in the A domain of the beta 2 integrin CR3 (CD11b/CD18) is essential for ligand binding

1 reference

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6 July 2018

Electron-microscopical approach to a structural model of intima collagen

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2963345

6 July 2018

Type VI collagen in extracellular, 100-nm periodic filaments and fibrils: identification by immunoelectron microscopy

1 reference

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6 July 2018

Amino acid sequence of the triple-helical domain of human collagen type VI

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2963345

6 July 2018

Alpha 1 chain of chick type VI collagen. The complete cDNA sequence reveals a hybrid molecule made of one short collagen and three von Willebrand factor type A-like domains

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2963345

6 July 2018

Sequence analysis of alpha 1(VI) and alpha 2(VI) chains of human type VI collagen reveals internal triplication of globular domains similar to the A domains of von Willebrand factor and two alpha 2(VI) chain variants that differ in the carboxy termi

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2963345

6 July 2018

Multiple forms of chicken alpha 3(VI) collagen chain generated by alternative splicing in type A repeated domains

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2963345

6 July 2018

Mosaic structure of globular domains in the human type VI collagen alpha 3 chain: similarity to von Willebrand factor, fibronectin, actin, salivary proteins and aprotinin type protease inhibitors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2963345

6 July 2018

Three novel collagen VI chains with high homology to the alpha3 chain

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M110.152520

21 January 2018

The supramolecular organization of collagen VI microfibrils

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M110.152520

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M110.152520

21 January 2018

Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M110.152520

21 January 2018

Autosomal recessive myosclerosis myopathy is a collagen VI disorder

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M110.152520

21 January 2018

Mutation of a ligand binding domain of beta 3 integrin. Integral role of oxygenated residues in alpha IIb beta 3 (GPIIb-IIIa) receptor function.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2963345

28 October 2018

Identification of putative ligand binding sites within I domain of integrin alpha 2 beta 1 (VLA-2, CD49b/CD29)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2963345

28 October 2018

Molecular consequences of dominant Bethlem myopathy collagen VI mutations

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M110.152520

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M110.152520

21 January 2018

Novel COL6A1 splicing mutation in a family affected by mild Bethlem myopathy

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M110.152520

21 January 2018

Variable penetrance of COL6A1 null mutations: Implications for prenatal diagnosis and genetic counselling in Ullrich congenital muscular dystrophy families

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M110.152520

21 January 2018

Effects on Collagen VI mRNA Stability and Microfibrillar Assembly of ThreeCOL6A2Mutations in Two Families with Ullrich Congenital Muscular Dystrophy

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M110.152520

21 January 2018

Bethlem myopathy and engineered collagen VI triple helical deletions prevent intracellular multimer assembly and protein secretion

1 reference

https://pubmed.ncbi.nlm.nih.gov/20729548

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based on heuristic

inferred from PubMed ID database lookup

A Bethlem myopathy Gly to Glu mutation in the von Willebrand factor A domain N2 of the collagen alpha3(VI) chain interferes with protein folding

1 reference

https://pubmed.ncbi.nlm.nih.gov/20729548

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The N-terminal N5 subdomain of the alpha 3(VI) chain is important for collagen VI microfibril formation

1 reference

https://pubmed.ncbi.nlm.nih.gov/20729548

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The role of the C1 and C2 a-domains in type VI collagen assembly

1 reference

https://pubmed.ncbi.nlm.nih.gov/20729548

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based on heuristic

inferred from PubMed ID database lookup

Ullrich disease: collagen VI deficiency: EM suggests a new basis for muscular weakness

1 reference

https://pubmed.ncbi.nlm.nih.gov/20729548

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Type VI collagen beaded microfibrils from bovine cornea depolymerize at acidic pH, and depolymerization and polymerization are not influenced by hyaluronan

1 reference

https://pubmed.ncbi.nlm.nih.gov/20729548

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Alternative splicing of VWFA modules generates variants of type VI collagen alpha 3 chain with a distinctive expression pattern in embryonic chicken tissues and potentially different adhesive function

1 reference

https://pubmed.ncbi.nlm.nih.gov/20729548

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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10.1074/JBC.M110.152520

1 reference

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11 February 2020

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11 February 2020

PubMed publication ID

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11 February 2020

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