(Q33668572)

28 July 2017

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title

Hereditary skin diseases of anchoring fibrils (English)

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28 July 2017

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Bruckner-Tuderman L

1

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28 July 2017

publication date

1 June 1999

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Journal of Dermatological Science

28 July 2017

published in

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28 July 2017

volume

20

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28 July 2017

issue

2

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28 July 2017

page(s)

122-133

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The dermal-epidermal junction

28 July 2017

cites work

1 reference

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7 January 2021

Type VII collagen, anchoring fibrils, and epidermolysis bullosa

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7 January 2021

Genetic diseases of the extracellular matrix: more than just connective tissue disorders

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7 January 2021

Epidermolysis bullosa acquisita: a disease of autoimmunity to type VII collagen

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7 January 2021

Immunodissection of the connective tissue matrix in human skin

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7 January 2021

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

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7 January 2021

cDNA cloning and chromosomal mapping of the mouse type VII collagen gene (Col7a1): evidence for rapid evolutionary divergence of the gene

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7 January 2021

Monoclonal antibodies to anchoring fibrils for the diagnosis of epidermolysis bullosa.

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7 January 2021

Characterization of a 50-kDa component of epithelial basement membranes using GDA-J/F3 monoclonal antibody

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Interactions of the amino-terminal noncollagenous (NC1) domain of type VII collagen with extracellular matrix components. A potential role in epidermal-dermal adherence in human skin

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7 January 2021

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

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7 January 2021

Anchoring fibrils and type VII collagen are absent from skin in severe recessive dystrophic epidermolysis bullosa

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7 January 2021

Biology of anchoring fibrils: lessons from dystrophic epidermolysis bullosa

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7 January 2021

Strategy for identification of sequence variants in COL7A1 and a novel 2-bp deletion mutation in recessive dystrophic epidermolysis bullosa

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Recurrent mutations in the type VII collagen gene (COL7A1) in patients with recessive dystrophic epidermolysis bullosa

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7 January 2021

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

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7 January 2021

Transient bullous dermolysis of the newborn associated with compound heterozygosity for recessive and dominant COL7A1 mutations.

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7 January 2021

Mutation analysis and molecular genetics of epidermolysis bullosa

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7 January 2021

Clustering of COL7A1 mutations in exon 73: implications for mutation analysis in dystrophic epidermolysis bullosa

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7 January 2021

Identification and characterization of genes that are required for the accelerated degradation of mRNAs containing a premature translational termination codon

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7 January 2021

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

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7 January 2021

Collagens: molecular biology, diseases, and potentials for therapy

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Genetic basis of dominantly inherited transient bullous dermolysis of the newborn: a splice site mutation in the type VII collagen gene

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7 January 2021

Deletions within COL7A1 exons distant from consensus splice sites alter splicing and produce shortened polypeptides in dominant dystrophic epidermolysis bullosa

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https://api.crossref.org/works/10.1016%2FS0923-1811%2899%2900018-3

7 January 2021

Deletion of 19 base pairs in intron 13 of the gene for the pro alpha 2(I) chain of type-I procollagen (COL1A2) causes exon skipping in a proband with type-I osteogenesis imperfecta

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7 January 2021

Ehlers-Danlos Syndrome Type IV: A Single Base Substitution of the Last Nucleotide of Exon 34 in COL3A1 Leads to Exon Skipping

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7 January 2021

Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus

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7 January 2021

Gene therapy for genetic skin disease

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7 January 2021

10.1016/S0923-1811(99)00018-3

Identifiers

DOI

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28 July 2017

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