Truncated typeXVII collagen expression in a patient with non-herlitz junctional epidermolysis bullosa caused by a homozygous splice-site mutation (Q95721410)

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English	Truncated typeXVII collagen expression in a patient with non-herlitz junctional epidermolysis bullosa caused by a homozygous splice-site mutation	No description defined

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11406649%20AND%20SRC:MED&resulttype=core&format=json

29 May 2020

Truncated typeXVII collagen expression in a patient with non-herlitz junctional epidermolysis bullosa caused by a homozygous splice-site mutation (English)

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11406649%20AND%20SRC:MED&resulttype=core&format=json

29 May 2020

junctional epidermolysis bullosa

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author name string

M R van Leusden

1

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29 May 2020

H H Pas

2

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29 May 2020

T Gedde-Dahl

3

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29 May 2020

A Sonnenberg

4

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29 May 2020

M F Jonkman

5

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29 May 2020

publication date

1 June 2001

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29 May 2020

Laboratory Investigation

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29 May 2020

81

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29 May 2020

6

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29 May 2020

887-894

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29 May 2020

Properties of the Collagen Type XVII Ectodomain: EVIDENCE FOR N- TO C-TERMINAL TRIPLE HELIX FOLDING

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3780297

7 January 2021

based on heuristic

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A Recombinant Form of the Human BP180 Ectodomain Forms a Collagen-like Homotrimeric Complex

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3780297

7 January 2021

based on heuristic

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The localization of bullous pemphigoid antigen 180 (BP180) in hemidesmosomes is mediated by its cytoplasmic domain and seems to be regulated by the beta4 integrin subunit

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3780297

7 January 2021

based on heuristic

inferred from DOI database lookup

Fluorescence overlay antigen mapping of the epidermal basement membrane zone: I. Geometric errors

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3780297

7 January 2021

based on heuristic

inferred from DOI database lookup

A homozygous in-frame deletion in the collagenous domain of bullous pemphigoid antigen BP180 (type XVII collagen) causes generalized atrophic benign epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3780297

7 January 2021

based on heuristic

inferred from DOI database lookup

Premature termination codons are present on both alleles of the bullous pemphigoid antigen 2/type XVII collagen gene in five Austrian families with generalized atrophic benign epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3780297

7 January 2021

based on heuristic

inferred from DOI database lookup

Cycloheximide facilitates the identification of aberrant transcripts resulting from a novel splice-site mutation in COL17A1 in a patient with generalized atrophic benign epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3780297

7 January 2021

based on heuristic

inferred from DOI database lookup

Novel homozygous and compound heterozygous COL17A1 mutations associated with junctional epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3780297

7 January 2021

based on heuristic

inferred from DOI database lookup

Junctional epidermolysis bullosa inversa (locus EBR2A) assigned to 1q31 by linkage and association to LAMC1

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3780297

7 January 2021

based on heuristic

inferred from DOI database lookup

Cloning and primary structural analysis of the bullous pemphigoid autoantigen BP180

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3780297

7 January 2021

based on heuristic

inferred from DOI database lookup

Demonstration of the molecular shape of BP180, a 180-kDa bullous pemphigoid antigen and its potential for trimer formation

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3780297

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3780297

7 January 2021

based on heuristic

inferred from DOI database lookup

The N terminus of the transmembrane protein BP180 interacts with the N-terminal domain of BP230, thereby mediating keratin cytoskeleton anchorage to the cell surface at the site of the hemidesmosome

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3780297

7 January 2021

based on heuristic

inferred from DOI database lookup

180-kD bullous pemphigoid antigen (BP180) is deficient in generalized atrophic benign epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3780297

7 January 2021

based on heuristic

inferred from DOI database lookup

Expression of integrin alpha 6 beta 4 in junctional epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3780297

7 January 2021

based on heuristic

inferred from DOI database lookup

Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversion

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3780297

7 January 2021

based on heuristic

inferred from DOI database lookup

180-kDa bullous pemphigoid antigen defective generalized atrophic benign epidermolysis bullosa: report of four cases with an unusually mild phenotype

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3780297

7 January 2021

based on heuristic

inferred from DOI database lookup

A homozygous deletion mutation in the gene encoding the 180-kDa bullous pemphigoid antigen (BPAG2) in a family with generalized atrophic benign epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3780297

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3780297

7 January 2021

based on heuristic

inferred from DOI database lookup

HD4, a 180 kDa bullous pemphigoid antigen, is a major transmembrane glycoprotein of the hemidesmosome

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3780297

7 January 2021

based on heuristic

inferred from DOI database lookup

Signals for the selection of a splice site in pre-mRNA. Computer analysis of splice junction sequences and like sequences

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3780297

7 January 2021

based on heuristic

inferred from DOI database lookup

Bullous pemphigoid and linear IgA dermatosis sera recognize a similar 120-kDa keratinocyte collagenous glycoprotein with antigenic cross-reactivity to BP180

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3780297

7 January 2021

based on heuristic

inferred from DOI database lookup

Type XVII collagen (BP180) and LAD-1 are present as separate trimeric complexes

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3780297

7 January 2021

based on heuristic

inferred from DOI database lookup

Compound heterozygosity for an out-of-frame deletion and a splice site mutation in the LAMB3 gene causes nonlethal junctional epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3780297

7 January 2021

based on heuristic

inferred from DOI database lookup

Compound heterozygosity for novel splice site mutations in the BPAG2/COL17A1 gene underlies generalized atrophic benign epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3780297

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3780297

7 January 2021

based on heuristic

inferred from DOI database lookup

Implications of intragenic marker homozygosity and haplotype sharing in a rare autosomal recessive disorder: the example of the collagen type XVII (COL17A1) locus in generalised atrophic benign epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3780297

7 January 2021

based on heuristic

inferred from DOI database lookup

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/10.1038%2FLABINVEST.3780297

7 January 2021

based on heuristic

inferred from DOI database lookup

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3780297

7 January 2021

based on heuristic

inferred from DOI database lookup

New insights into the immunoultrastructural organization of cutaneous basement membrane zone molecules

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3780297

7 January 2021

based on heuristic

inferred from DOI database lookup

The 97 kDa linear IgA bullous dermatosis antigen is not expressed in a patient with generalized atrophic benign epidermolysis bullosa with a novel homozygous G258X mutation in COL17A1.

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3780297

7 January 2021

based on heuristic

inferred from DOI database lookup

Hemizygosity for a glycine substitution in collagen XVII: unfolding and degradation of the ectodomain

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3780297

7 January 2021

based on heuristic

inferred from DOI database lookup

Compound heterozygosity for a recessive glycine substitution and a splice site mutation in the COL7A1 gene causes an unusually mild form of localized recessive dystrophic epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3780297

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1038/LABINVEST.3780297

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11406649%20AND%20SRC:MED&resulttype=core&format=json

29 May 2020

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11406649%20AND%20SRC:MED&resulttype=core&format=json

29 May 2020

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