Alpha 6 beta 4 integrin abnormalities in junctional epidermolysis bullosa with pyloric atresia. (Q34184714)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11251584%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

title

Alpha 6 beta 4 integrin abnormalities in junctional epidermolysis bullosa with pyloric atresia (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11251584%20AND%20SRC:MED&resulttype=core&format=json

junctional epidermolysis bullosa with pyloric atresia

5 November 2019

main subject

0 references

1 reference

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5 November 2019

G H Ashton

1 reference

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5 November 2019

P Sorelli

1 reference

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5 November 2019

J E Mellerio

1 reference

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5 November 2019

F M Keane

1 reference

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5 November 2019

R A Eady

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5 November 2019

language of work or name

English

0 references

publication date

1 February 2001

1 reference

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British Journal of Dermatology

5 November 2019

published in

1 reference

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5 November 2019

volume

144

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5 November 2019

issue

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5 November 2019

page(s)

408-414

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Molecular pathology of the cutaneous basement membrane zone

5 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.2001.04038.X

Mutation analysis and molecular genetics of epidermolysis bullosa

21 January 2018

1 reference

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Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.2001.04038.X

Homozygous alpha6 integrin mutation in junctional epidermolysis bullosa with congenital duodenal atresia

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.2001.04038.X

The pyloric atresia-junctional epidermolysis bullosa syndrome. Report of a case and review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.2001.04038.X

Splicing modulation of integrin beta4 pre-mRNA carrying a branch point mutation underlies epidermolysis bullosa with pyloric atresia undergoing spontaneous amelioration with ageing

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.2001.04038.X

Beta4 integrin is required for hemidesmosome formation, cell adhesion and cell survival

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.2001.04038.X

Novel ITGB4 mutations in lethal and nonlethal variants of epidermolysis bullosa with pyloric atresia: missense versus nonsense

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.2001.04038.X

Nonsense mutations in the dihydrofolate reductase gene affect RNA processing

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.2001.04038.X

Integrin alpha 6/beta 4 complex is located in hemidesmosomes, suggesting a major role in epidermal cell-basement membrane adhesion

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.2001.04038.X

Linking integrin alpha6beta4-based cell adhesion to the intermediate filament cytoskeleton: direct interaction between the beta4 subunit and plectin at multiple molecular sites.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.2001.04038.X

The beta 4 subunit cytoplasmic domain mediates the interaction of alpha 6 beta 4 integrin with the cytoskeleton of hemidesmosomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.2001.04038.X

Direct interaction between the intracellular domains of bullous pemphigoid antigen 2 (BP180) and beta 4 integrin, hemidesmosomal components of basal keratinocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.2001.04038.X

Hemidesmosome formation is initiated by the beta4 integrin subunit, requires complex formation of beta4 and HD1/plectin, and involves a direct interaction between beta4 and the bullous pemphigoid antigen 180

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.2001.04038.X

Molecular genetic studies of a human epidermal autoantigen (the 180-kD bullous pemphigoid antigen/BP180): identification of functionally important sequences within the BP180 molecule and evidence for an interaction between BP180 and alpha 6 integrin

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.2001.04038.X

Revised classification system for inherited epidermolysis bullosa: Report of the Second International Consensus Meeting on diagnosis and classification of epidermolysis bullosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.2001.04038.X

Pyloric atresia-junctional epidermolysis bullosa syndrome: mutations in the integrin beta4 gene (ITGB4) in two unrelated patients with mild disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.2001.04038.X

A Novel Homozygous Mutation Affecting Integrin α6 in a Case of Junctional Epidermolysis Bullosa with Pyloric Atresia Detected In Utero by Ultrasound Examination

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.2001.04038.X

A homozygous missense mutation in the cytoplasmic tail of beta4 integrin, G931D, that disrupts hemidesmosome assembly and underlies Non-Herlitz junctional epidermolysis bullosa without pyloric atresia?

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.2001.04038.X

Prenatal diagnosis of pyloric atresia-junctional epidermolysis bullosa syndrome in a fetus not known to be at risk

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.2001.04038.X

10.1046/J.1365-2133.2001.04038.X

21 January 2018

Identifiers

DOI

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release_pldk4dcglrdztllch5mgutpyhm

5 November 2019

Fatcat ID

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mapped directly with Wikidata item

24 November 2022

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