(Q35056805)

6 August 2017

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title

Type XVII collagen gene mutations in junctional epidermolysis bullosa and prospects for gene therapy (English)

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junctional epidermolysis bullosa

6 August 2017

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author name string

J W Bauer

series ordinal

1

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6 August 2017

C Lanschuetzer

series ordinal

2

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6 August 2017

publication date

1 January 2003

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Clinical and Experimental Dermatology

6 August 2017

published in

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6 August 2017

volume

28

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6 August 2017

issue

1

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6 August 2017

page(s)

53-60

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

6 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2230.2003.01192.X

Altered laminin 5 expression due to mutations in the gene encoding the beta 3 chain (LAMB3) in generalized atrophic benign epidermolysis bullosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2230.2003.01192.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.1365-2230.2003.01192.X

Generalized atrophic benign epidermolysis bullosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2230.2003.01192.X

Deletion of the cytoplasmatic domain of BP180/collagen XVII causes a phenotype with predominant features of epidermolysis bullosa simplex

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2230.2003.01192.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2230.2003.01192.X

BP180 gene delivery in junctional epidermolysis bullosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2230.2003.01192.X

Isolating a pure population of epidermal stem cells for use in tissue engineering

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2230.2003.01192.X

Evidence for keratinocyte stem cells in vitro: long term engraftment and persistence of transgene expression from retrovirus-transduced keratinocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2230.2003.01192.X

Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversion

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2230.2003.01192.X

Moderation of phenotypic severity in dystrophic and junctional forms of epidermolysis bullosa through in-frame skipping of exons containing non-sense or frameshift mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2230.2003.01192.X

Restoration of hemoglobin A synthesis in erythroid cells from peripheral blood of thalassemic patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2230.2003.01192.X

Htra2-beta 1 stimulates an exonic splicing enhancer and can restore full-length SMN expression to survival motor neuron 2 (SMN2)

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2230.2003.01192.X

Ribozyme-mediated repair of sickle beta-globin mRNAs in erythrocyte precursors

21 January 2018

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https://api.crossref.org/works/10.1046%2FJ.1365-2230.2003.01192.X

Spliceosome-mediated RNA trans-splicing as a tool for gene therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2230.2003.01192.X

Repair of CFTR mRNA by spliceosome-mediated RNA trans-splicing

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2230.2003.01192.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2230.2003.01192.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2230.2003.01192.X

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.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2230.2003.01192.X

Prognostic implications of determining 180 kDa bullous pemphigoid antigen (BPAG2) gene/protein pathology in neonatal junctional epidermolysis bullosa.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2230.2003.01192.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2230.2003.01192.X

A novel homozygous point mutation in the COL17A1 gene in a Chinese family with generalized atrophic benign epidermolysis bullosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2230.2003.01192.X

Digenic junctional epidermolysis bullosa: mutations in COL17A1 and LAMB3 genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2230.2003.01192.X

In vivo restoration of laminin 5 beta 3 expression and function in junctional epidermolysis bullosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2230.2003.01192.X

Gene correction of integrin beta4-dependent pyloric atresia-junctional epidermolysis bullosa keratinocytes establishes a role for beta4 tyrosines 1422 and 1440 in hemidesmosome assembly

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2230.2003.01192.X

Stable integration of large (>100 kb) PAC constructs in HaCaT keratinocytes using an integrin-targeting peptide delivery system.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2230.2003.01192.X

10.1046/J.1365-2230.2003.01192.X

21 January 2018

Identifiers

DOI

1 reference

6 August 2017

1 reference