(Q43798580)

English

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

scientific article published on 13 November 2001

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

26 November 2017

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

1 reference

Europe PubMed Central

26 November 2017

Bethlem myopathy

1 reference

based on heuristic

inferred from title

5

1 reference

Europe PubMed Central

26 November 2017

John F. Bateman

6

1 reference

Europe PubMed Central

26 November 2017

author name string

Shireen R Lamandé

1

1 reference

Europe PubMed Central

26 November 2017

Matthias Mörgelin

2

1 reference

Europe PubMed Central

26 November 2017

Carly Selan

3

1 reference

Europe PubMed Central

26 November 2017

G Joost Jöbsis

4

1 reference

Europe PubMed Central

26 November 2017

language of work or name

0 references

publication date

13 November 2001

1 reference

Europe PubMed Central

26 November 2017

number of pages

8

1 reference

based on heuristic

inferred from page(s)

Journal of Biological Chemistry

1 reference

Europe PubMed Central

26 November 2017

277

1 reference

Europe PubMed Central

26 November 2017

1949-1956

1 reference

Europe PubMed Central

26 November 2017

3

1 reference

Europe PubMed Central

26 November 2017

Benign myopathy, with autosomal dominant inheritance. A report on three pedigrees

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M109932200

21 January 2018

Bethlem myopathy: a slowly progressive congenital muscular dystrophy with contractures

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M109932200

21 January 2018

Genetic localization of Bethlem myopathy

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M109932200

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M109932200

21 January 2018

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

https://api.crossref.org/works/10.1074%2FJBC.M109932200

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M109932200

21 January 2018

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

https://api.crossref.org/works/10.1074%2FJBC.M109932200

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M109932200

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M109932200

21 January 2018

Biglycan and decorin bind close to the n-terminal region of the collagen VI triple helix

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M109932200

21 January 2018

Beaded filaments and long-spacing fibrils: Relation to type VI collagen

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M109932200

21 January 2018

The C-propeptide domain of procollagen can be replaced with a transmembrane domain without affecting trimer formation or collagen triple helix folding during biosynthesis

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M109932200

21 January 2018

Amino acid propensities for the collagen triple-helix

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M109932200

21 January 2018

A new twist in the collagen story--the type VI segmented supercoil

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M109932200

21 January 2018

Electron-microscopical approach to a structural model of intima collagen

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M109932200

21 January 2018

Substitution of cysteine for glycine-alpha 1-691 in the pro alpha 1(I) chain of type I procollagen in a proband with lethal osteogenesis imperfecta destabilizes the triple helix at a site C-terminal to the substitution

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M109932200

21 January 2018

Three muscular dystrophies: loss of cytoskeleton-extracellular matrix linkage.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M109932200

21 January 2018

Absence of integrin alpha 7 causes a novel form of muscular dystrophy

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M109932200

21 January 2018

Evidence for locus heterogeneity in the Bethlem myopathy and linkage to 2q37

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M109932200

21 January 2018

A novel de novo mutation in the triple helix of the COL6A3 gene in a two-generation Italian family affected by Bethlem myopathy. A diagnostic approach in the mutations' screening of type VI collagen

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M109932200

21 January 2018

Identifiers

10.1074/JBC.M109932200

1 reference

Europe PubMed Central

26 November 2017

1 reference

Europe PubMed Central

26 November 2017

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q43798580&oldid=2119493925"