(Q40951954)

25 September 2017

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title

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

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25 September 2017

A M Christiano

1

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25 September 2017

J Uitto

series ordinal

2

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25 September 2017

language of work or name

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1 February 1996

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25 September 2017

published in

Experimental Dermatology

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25 September 2017

volume

5

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25 September 2017

issue

1

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25 September 2017

page(s)

1-11

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Genetic Skin Disorders of Keratin

25 September 2017

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.1996.TB00086.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.1996.TB00086.X

Mutations in the gamma 2 chain gene (LAMC2) of kalinin/laminin 5 in the junctional forms of epidermolysis bullosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.1996.TB00086.X

Herlitz's junctional epidermolysis bullosa is linked to mutations in the gene (LAMC2) for the gamma 2 subunit of nicein/kalinin (LAMININ-5)

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.1996.TB00086.X

A Homozygous Nonsense Mutation in the β3 Chain Gene of Laminin 5 (LAMB3) in Herlitz Junctional Epidermolysis Bullosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.1996.TB00086.X

Identification of a homozygous one-basepair deletion in exon 14 of the LAMB3 gene in a patient with Herlitz junctional epidermolysis bullosa and prenatal diagnosis in a family at risk for recurrence

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.1996.TB00086.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/10.1111%2FJ.1600-0625.1996.TB00086.X

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/10.1111%2FJ.1600-0625.1996.TB00086.X

Type VII collagen, anchoring fibrils, and epidermolysis bullosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.1996.TB00086.X

The molecular genetics of basement membrane diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.1996.TB00086.X

Ultrastructural findings in epidermolysis bullosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.1996.TB00086.X

Cloning and primary structural analysis of the bullous pemphigoid autoantigen BP180

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.1996.TB00086.X

Cloning of partial cDNA for mouse 180-kDa bullous pemphigoid antigen (BPAG2), a highly conserved collagenous protein of the cutaneous basement membrane zone

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.1996.TB00086.X

Distinct functions for integrins alpha 3 beta 1 in focal adhesions and alpha 6 beta 4/bullous pemphigoid antigen in a new stable anchoring contact (SAC) of keratinocytes: relation to hemidesmosomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.1996.TB00086.X

Integrins: a family of cell surface receptors

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.1996.TB00086.X

Integrins: versatility, modulation, and signaling in cell adhesion

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.1996.TB00086.X

Kalinin: an epithelium-specific basement membrane adhesion molecule that is a component of anchoring filaments

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.1996.TB00086.X

The new basement membrane antigen recognized by the monoclonal antibody GB3 is a large size glycoprotein: modulation of its expression by retinoic acid

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.1996.TB00086.X

A new nomenclature for the laminins

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.1996.TB00086.X

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.1996.TB00086.X

A truncated laminin chain homologous to the B2 chain: structure, spatial expression, and chromosomal assignment

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.1996.TB00086.X

Cloning of the beta 3 chain gene (LAMB3) of human laminin 5, a candidate gene in junctional epidermolysis bullosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.1996.TB00086.X

Structural organization of the human type VII collagen gene (COL7A1), composed of more exons than any previously characterized gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.1996.TB00086.X

Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: Genetic and functional analyses

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.1996.TB00086.X

Identification of a leucine-to-proline mutation in the keratin 5 gene in a family with the generalized Köbner type of epidermolysis bullosa simplex

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.1996.TB00086.X

A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blistering

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.1996.TB00086.X

Ultrastructural clues to genetic disorders of skin: the dermal-epidermal junction.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.1996.TB00086.X

Desmosomes and hemidesmosomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.1996.TB00086.X

par-1, a gene required for establishing polarity in C. elegans embryos, encodes a putative Ser/Thr kinase that is asymmetrically distributed

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.1996.TB00086.X

The genomic structure of an insertional mutation in the dystonia musculorum locus.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.1996.TB00086.X

The mouse dystonia musculorum gene is a neural isoform of bullous pemphigoid antigen 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.1996.TB00086.X

Autosomal recessive epidermolysis bullosa simplex. Generalized phenotypic features suggestive of junctional or dystrophic epidermolysis bullosa, and association with neuromuscular diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.1996.TB00086.X

Cytoskeletal protein abnormalities in neurodegenerative diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.1996.TB00086.X

Hemidesmosomes: extracellular matrix/intermediate filament connectors

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.1996.TB00086.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/10.1111%2FJ.1600-0625.1996.TB00086.X

A recombinant tail-less integrin beta 4 subunit disrupts hemidesmosomes, but does not suppress alpha 6 beta 4-mediated cell adhesion to laminins.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.1996.TB00086.X

Evaluation of anchoring fibrils and other components of the dermal-epidermal junction in dystrophic epidermolysis bullosa by a quantitative ultrastructural technique

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.1996.TB00086.X

Molecular basis for the dystrophic forms of epidermolysis bullosa: mutations in the type VII collagen gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.1996.TB00086.X

A missense mutation in type VII collagen in two affected siblings with recessive dystrophic epidermolysis bullosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.1996.TB00086.X

A glycine-to-arginine substitution in the triple-helical domain of type VII collagen in a family with dominant dystrophic epidermolysis bullosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.1996.TB00086.X

Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.1996.TB00086.X

DNA-based prenatal diagnosis of heritable skin diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.1996.TB00086.X

Ribozyme-mediated repair of defective mRNA by targeted, trans-splicing

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.1996.TB00086.X

10.1111/J.1600-0625.1996.TB00086.X

21 January 2018

Identifiers

DOI

1 reference

25 September 2017

1 reference