(Q32052839)

English

Some, but not all, glycine substitution mutations in COL7A1 result in intracellular accumulation of collagen VII, loss of anchoring fibrils, and skin blistering

scientific article

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

5 July 2017

Some, but not all, glycine substitution mutations in COL7A1 result in intracellular accumulation of collagen VII, loss of anchoring fibrils, and skin blistering (English)

1 reference

Europe PubMed Central

PubMed publication ID

5 July 2017

author name string

Hammami-Hauasli N

1

1 reference

Europe PubMed Central

PubMed publication ID

5 July 2017

Schumann H

2

1 reference

Europe PubMed Central

PubMed publication ID

5 July 2017

Raghunath M

3

1 reference

Europe PubMed Central

PubMed publication ID

5 July 2017

Kilgus O

4

1 reference

Europe PubMed Central

PubMed publication ID

5 July 2017

Lüthi U

5

1 reference

Europe PubMed Central

PubMed publication ID

5 July 2017

Luger T

6

1 reference

Europe PubMed Central

PubMed publication ID

5 July 2017

Bruckner-Tuderman L

7

1 reference

Europe PubMed Central

PubMed publication ID

5 July 2017

language of work or name

0 references

publication date

1 July 1998

1 reference

Europe PubMed Central

PubMed publication ID

5 July 2017

Journal of Biological Chemistry

1 reference

Europe PubMed Central

PubMed publication ID

5 July 2017

273

1 reference

Europe PubMed Central

PubMed publication ID

5 July 2017

30

1 reference

Europe PubMed Central

PubMed publication ID

5 July 2017

19228-19234

1 reference

Europe PubMed Central

PubMed publication ID

5 July 2017

Type VII collagen, anchoring fibrils, and epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1074%2FJBC.273.30.19228

21 January 2018

Immunohistochemical and mutation analyses demonstrate that procollagen VII is processed to collagen VII through removal of the NC-2 domain

1 reference

https://api.crossref.org/works/10.1074%2FJBC.273.30.19228

21 January 2018

Laminin 5 binds the NC-1 domain of type VII collagen

1 reference

https://api.crossref.org/works/10.1074%2FJBC.273.30.19228

21 January 2018

Cross-linking of the dermo-epidermal junction of skin regenerating from keratinocyte autografts. Anchoring fibrils are a target for tissue transglutaminase.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.273.30.19228

21 January 2018

Blistering skin diseases: models for studies on epidermal-dermal adhesion

1 reference

https://api.crossref.org/works/10.1074%2FJBC.273.30.19228

21 January 2018

Structural variations in anchoring fibrils in dystrophic epidermolysis bullosa: correlation with type VII collagen expression

1 reference

https://api.crossref.org/works/10.1074%2FJBC.273.30.19228

21 January 2018

Molecular complexity of the cutaneous basement membrane zone. Revelations from the paradigms of epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1074%2FJBC.273.30.19228

21 January 2018

A combination of a common splice site mutation and a frameshift mutation in the COL7A1 gene: absence of functional collagen VII in keratinocytes and skin

1 reference

https://api.crossref.org/works/10.1074%2FJBC.273.30.19228

21 January 2018

Modulation of disease severity of dystrophic epidermolysis bullosa by a splice site mutation in combination with a missense mutation in the COL7A1 gene

1 reference

https://api.crossref.org/works/10.1074%2FJBC.273.30.19228

21 January 2018

Collagens: molecular biology, diseases, and potentials for therapy

1 reference

https://api.crossref.org/works/10.1074%2FJBC.273.30.19228

21 January 2018

New insights into the function of collagens from genetic analysis

1 reference

https://api.crossref.org/works/10.1074%2FJBC.273.30.19228

21 January 2018

Immunofluorescence Mapping of Antigenic Determinants within the Dermal-epidermal Junction in Mechanobullous Diseases

1 reference

https://api.crossref.org/works/10.1074%2FJBC.273.30.19228

21 January 2018

Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes

1 reference

https://api.crossref.org/works/10.1074%2FJBC.273.30.19228

21 January 2018

Transforming growth factor-beta stimulates collagen VII expression by cutaneous cells in vitro

1 reference

https://api.crossref.org/works/10.1074%2FJBC.273.30.19228

21 January 2018

Three novel homozygous point mutations and a new polymorphism in the COL17A1 gene: relation to biological and clinical phenotypes of junctional epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1074%2FJBC.273.30.19228

21 January 2018

Tissue form of type VII collagen from human skin and dermal fibroblasts in culture

1 reference

https://api.crossref.org/works/10.1074%2FJBC.273.30.19228

21 January 2018

Isolation of alpha 6 beta 1 integrins from platelets and adherent cells by affinity chromatography on mouse laminin fragment E8 and human laminin pepsin fragment

1 reference

https://api.crossref.org/works/10.1074%2FJBC.273.30.19228

21 January 2018

Delayed triple helix formation of mutant collagen from patients with osteogenesis imperfecta.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.273.30.19228

21 January 2018

Novel glycine substitution mutations in COL7A1 reveal that the Pasini and Cockayne-Touraine variants of dominant dystrophic epidermolysis bullosa are allelic

1 reference

https://api.crossref.org/works/10.1074%2FJBC.273.30.19228

21 January 2018

Characterization of 18 new mutations in COL7A1 in recessive dystrophic epidermolysis bullosa provides evidence for distinct molecular mechanisms underlying defective anchoring fibril formation

1 reference

https://api.crossref.org/works/10.1074%2FJBC.273.30.19228

21 January 2018

Glycine substitution mutations in the type VII collagen gene (COL7A1) in dystrophic epidermolysis bullosa: implications for genetic counseling

1 reference

https://api.crossref.org/works/10.1074%2FJBC.273.30.19228

21 January 2018

The carboxyl-terminal half of type VII collagen, including the non-collagenous NC-2 domain and intron/exon organization of the corresponding region of the COL7A1 gene

1 reference

https://api.crossref.org/works/10.1074%2FJBC.273.30.19228

21 January 2018

Cloning of mouse type VII collagen reveals evolutionary conservation of functional protein domains and genomic organization

1 reference

https://api.crossref.org/works/10.1074%2FJBC.273.30.19228

21 January 2018

Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus

1 reference

https://api.crossref.org/works/10.1074%2FJBC.273.30.19228

21 January 2018

Lack of type VII collagen in unaffected skin of patients with severe recessive dystrophic epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1074%2FJBC.273.30.19228

21 January 2018

A homozygous insertion-deletion in the type VII collagen gene (COL7A1) in Hallopeau-Siemens dystrophic epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1074%2FJBC.273.30.19228

21 January 2018

Clinicopathological correlations of compound heterozygous COL7A1 mutations in recessive dystrophic epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1074%2FJBC.273.30.19228

21 January 2018

Molecular basis of recessive dystrophic epidermolysis bullosa: genotype/phenotype correlation in a case of moderate clinical severity

1 reference

https://api.crossref.org/works/10.1074%2FJBC.273.30.19228

21 January 2018

Premature termination codons in the type VII collagen gene (COL7A1) underlie severe, mutilating recessive dystrophic epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1074%2FJBC.273.30.19228

21 January 2018

Intracellular accumulation of collagen VII in cultured keratinocytes from a patient with dominant dystrophic epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1074%2FJBC.273.30.19228

21 January 2018

Proteolytic enzymes as probes for the triple-helical conformation of procollagen

1 reference

https://api.crossref.org/works/10.1074%2FJBC.273.30.19228

21 January 2018

Delayed helix formation of mutant collagen

1 reference

https://api.crossref.org/works/10.1074%2FJBC.273.30.19228

21 January 2018

Lack of photoprotection against UVB-induced erythema by immediate pigmentation induced by 382 nm radiation

1 reference

https://api.crossref.org/works/10.1074%2FJBC.273.30.19228

21 January 2018

Identifiers

10.1074/JBC.273.30.19228

1 reference

Europe PubMed Central

PubMed publication ID

5 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

5 July 2017

ResearchGate publication ID

0 references

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=Q32052839&oldid=1541460992"