(Q33657782)

28 July 2017

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title

Mutation analysis and molecular genetics of epidermolysis bullosa (English)

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28 July 2017

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epidermolysis bullosa

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Pulkkinen L

1

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28 July 2017

Uitto J

series ordinal

2

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28 July 2017

publication date

1 February 1999

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28 July 2017

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28 July 2017

volume

18

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28 July 2017

issue

1

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28 July 2017

page(s)

29-42

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Hemidesmosomes: roles in adhesion, signaling and human diseases

28 July 2017

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0945-053X%2898%2900005-5

7 January 2021

Defective integrin alpha 6 beta 4 expression in the skin of patients with junctional epidermolysis bullosa and pyloric atresia

1 reference

https://api.crossref.org/works/10.1016%2FS0945-053X%2898%2900005-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0945-053X%2898%2900005-5

7 January 2021

Type VII collagen, anchoring fibrils, and epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1016%2FS0945-053X%2898%2900005-5

7 January 2021

A new nomenclature for the laminins

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https://api.crossref.org/works/10.1016%2FS0945-053X%2898%2900005-5

7 January 2021

Epiligrin, a new cell adhesion ligand for integrin alpha 3 beta 1 in epithelial basement membranes

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https://api.crossref.org/works/10.1016%2FS0945-053X%2898%2900005-5

7 January 2021

Human amnion contains a novel laminin variant, laminin 7, which like laminin 6, covalently associates with laminin 5 to promote stable epithelial-stromal attachment

1 reference

https://api.crossref.org/works/10.1016%2FS0945-053X%2898%2900005-5

7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS0945-053X%2898%2900005-5

7 January 2021

The large non-collagenous domain (NC-1) of type VII collagen is amino-terminal and chimeric. Homology to cartilage matrix protein, the type III domains of fibronectin and the A domains of von Willebrand factor

1 reference

https://api.crossref.org/works/10.1016%2FS0945-053X%2898%2900005-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0945-053X%2898%2900005-5

7 January 2021

Dominant dystrophic epidermolysis bullosa: identification of a Gly-->Ser substitution in the triple-helical domain of type VII collagen

1 reference

https://api.crossref.org/works/10.1016%2FS0945-053X%2898%2900005-5

7 January 2021

Premature termination codons in the type VII collagen gene (COL7A1) underlie severe, mutilating recessive dystrophic epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1016%2FS0945-053X%2898%2900005-5

7 January 2021

Prenatal diagnosis for recessive dystrophic epidermolysis bullosa in 10 families by mutation and haplotype analysis in the type VII collagen gene (COL7A1)

1 reference

https://api.crossref.org/works/10.1016%2FS0945-053X%2898%2900005-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0945-053X%2898%2900005-5

7 January 2021

Premature termination codon mutations in the type VII collagen gene in recessive dystrophic epidermolysis bullosa result in nonsense-mediated mRNA decay and absence of functional protein

1 reference

https://api.crossref.org/works/10.1016%2FS0945-053X%2898%2900005-5

7 January 2021

Mutation-based prenatal diagnosis of Herlitz junctional epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1016%2FS0945-053X%2898%2900005-5

7 January 2021

The CpG dinucleotide and human genetic disease

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https://api.crossref.org/works/10.1016%2FS0945-053X%2898%2900005-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0945-053X%2898%2900005-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0945-053X%2898%2900005-5

7 January 2021

Plectin transcript diversity: identification and tissue distribution of variants with distinct first coding exons and rodless isoforms

1 reference

https://api.crossref.org/works/10.1016%2FS0945-053X%2898%2900005-5

7 January 2021

Revised clinical and laboratory criteria for subtypes of inherited epidermolysis bullosa. A consensus report by the Subcommittee on Diagnosis and Classification of the National Epidermolysis Bullosa Registry

1 reference

https://api.crossref.org/works/10.1016%2FS0945-053X%2898%2900005-5

7 January 2021

Defective expression of plectin/HD1 in epidermolysis bullosa simplex with muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0945-053X%2898%2900005-5

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

1 reference

https://api.crossref.org/works/10.1016%2FS0945-053X%2898%2900005-5

7 January 2021

Cloning and primary structural analysis of the bullous pemphigoid autoantigen BP180

1 reference

https://api.crossref.org/works/10.1016%2FS0945-053X%2898%2900005-5

7 January 2021

Comparative structural analysis of desmoplakin, bullous pemphigoid antigen and plectin: members of a new gene family involved in organization of intermediate filaments

1 reference

https://api.crossref.org/works/10.1016%2FS0945-053X%2898%2900005-5

7 January 2021

Gene targeting of BPAG1: abnormalities in mechanical strength and cell migration in stratified epithelia and neurologic degeneration

1 reference

https://api.crossref.org/works/10.1016%2FS0945-053X%2898%2900005-5

7 January 2021

Identification of a new hemidesmosomal protein, HD1: a major, high molecular mass component of isolated hemidesmosomes

1 reference

https://api.crossref.org/works/10.1016%2FS0945-053X%2898%2900005-5

7 January 2021

Generalized atrophic benign epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1016%2FS0945-053X%2898%2900005-5

7 January 2021

Rapid detection of BRCA1 mutations by the protein truncation test

1 reference

https://api.crossref.org/works/10.1016%2FS0945-053X%2898%2900005-5

7 January 2021

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/10.1016%2FS0945-053X%2898%2900005-5

7 January 2021

Genetic linkage of recessive dystrophic epidermolysis bullosa to the type VII collagen gene

1 reference

https://api.crossref.org/works/10.1016%2FS0945-053X%2898%2900005-5

7 January 2021

DNA-Based Prenatal Diagnosis of Generalized Recessive Dystrophic Epidermolysis Bullosa in Six Pregnancies at Risk for Recurrence

1 reference

https://api.crossref.org/works/10.1016%2FS0945-053X%2898%2900005-5

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

1 reference

https://api.crossref.org/works/10.1016%2FS0945-053X%2898%2900005-5

7 January 2021

Molecular basis of dystrophic epidermolysis bullosa: mutations in the type VII collagen gene (COL7A1)

1 reference

https://api.crossref.org/works/10.1016%2FS0945-053X%2898%2900005-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0945-053X%2898%2900005-5

7 January 2021

Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversion

1 reference

https://api.crossref.org/works/10.1016%2FS0945-053X%2898%2900005-5

7 January 2021

Type VII collagen forms an extended network of anchoring fibrils

1 reference

https://api.crossref.org/works/10.1016%2FS0945-053X%2898%2900005-5

7 January 2021

Cutaneous gene therapy

1 reference

https://api.crossref.org/works/10.1016%2FS0945-053X%2898%2900005-5

7 January 2021

Mutational hotspots in the LAMB3 gene in the lethal (Herlitz) type of junctional epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1016%2FS0945-053X%2898%2900005-5

7 January 2021

Novel glycine substitution mutations in COL7A1 reveal that the Pasini and Cockayne-Touraine variants of dominant dystrophic epidermolysis bullosa are allelic

1 reference

https://api.crossref.org/works/10.1016%2FS0945-053X%2898%2900005-5

7 January 2021

Human plectin: organization of the gene, sequence analysis, and chromosome localization (8q24)

1 reference

https://api.crossref.org/works/10.1016%2FS0945-053X%2898%2900005-5

7 January 2021

Localization of laminin-5 in the epidermal basement membrane

1 reference

https://api.crossref.org/works/10.1016%2FS0945-053X%2898%2900005-5

7 January 2021

Preimplantation genetic diagnosis of severe inherited skin diseases

1 reference

https://api.crossref.org/works/10.1016%2FS0945-053X%2898%2900005-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0945-053X%2898%2900005-5

7 January 2021

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/10.1016%2FS0945-053X%2898%2900005-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0945-053X%2898%2900005-5

7 January 2021

Compound heterozygosity for nonsense ans missense mutations in the LAMB3 gene in nonlethal junctional epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1016%2FS0945-053X%2898%2900005-5

7 January 2021

Loss of plectin causes epidermolysis bullosa with muscular dystrophy: cDNA cloning and genomic organization

1 reference

https://api.crossref.org/works/10.1016%2FS0945-053X%2898%2900005-5

7 January 2021

Human type VII collagen: cDNA cloning and chromosomal mapping of the gene

1 reference

https://api.crossref.org/works/10.1016%2FS0945-053X%2898%2900005-5

7 January 2021

Detection of BRCA1 mutations by the protein truncation test

1 reference

https://api.crossref.org/works/10.1016%2FS0945-053X%2898%2900005-5

7 January 2021

Diminished expression of the extracellular domain of bullous pemphigoid antigen 2 (BPAG2) in the epidermal basement membrane of patients with generalized atrophic benign epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1016%2FS0945-053X%2898%2900005-5

7 January 2021

Hemidesmosomal variants of epidermolysis bullosa. Mutations in the alpha6beta4 integrin and the 180-kD bullous pemphigoid antigen/type XVII collagen genes

1 reference

https://api.crossref.org/works/10.1016%2FS0945-053X%2898%2900005-5

7 January 2021

Detection of sequence variants in the gene encoding the beta 3 chain of laminin 5 (LAMB3)

1 reference

https://api.crossref.org/works/10.1016%2FS0945-053X%2898%2900005-5

7 January 2021

Homozygous deletion mutations in the plectin gene (PLEC1) in patients with epidermolysis bullosa simplex associated with late-onset muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0945-053X%2898%2900005-5

7 January 2021

Predominance of the recurrent mutation R635X in the LAMB3 gene in European patients with Herlitz junctional epidermolysis bullosa has implications for mutation detection strategy

1 reference

https://api.crossref.org/works/10.1016%2FS0945-053X%2898%2900005-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0945-053X%2898%2900005-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0945-053X%2898%2900005-5

7 January 2021

A homozygous mutation in the integrin alpha6 gene in junctional epidermolysis bullosa with pyloric atresia

1 reference

https://api.crossref.org/works/10.1016%2FS0945-053X%2898%2900005-5

7 January 2021

Plectin deficiency results in muscular dystrophy with epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1016%2FS0945-053X%2898%2900005-5

7 January 2021

Four novel plectin gene mutations in Japanese patients with epidermolysis bullosa with muscular dystrophy disclosed by heteroduplex scanning and protein truncation tests

1 reference

https://api.crossref.org/works/10.1016%2FS0945-053X%2898%2900005-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0945-053X%2898%2900005-5

7 January 2021

Molecular genetics of the cutaneous basement membrane zone. Perspectives on epidermolysis bullosa and other blistering skin diseases

1 reference

https://api.crossref.org/works/10.1016%2FS0945-053X%2898%2900005-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0945-053X%2898%2900005-5

7 January 2021

Plectin and human genetic disorders of the skin and muscle. The paradigm of epidermolysis bullosa with muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0945-053X%2898%2900005-5

7 January 2021

Epidermolysis bullosa: a spectrum of clinical phenotypes explained by molecular heterogeneity

1 reference

https://api.crossref.org/works/10.1016%2FS0945-053X%2898%2900005-5

7 January 2021

Integrin beta 4 mutations associated with junctional epidermolysis bullosa with pyloric atresia

1 reference

https://api.crossref.org/works/10.1016%2FS0945-053X%2898%2900005-5

7 January 2021

Plectin: general overview and appraisal of its potential role as a subunit protein of the cytomatrix

1 reference

https://api.crossref.org/works/10.1016%2FS0945-053X%2898%2900005-5

7 January 2021

Occurrence and immunolocalization of plectin in tissues

1 reference

https://api.crossref.org/works/10.1016%2FS0945-053X%2898%2900005-5

7 January 2021

Anchorage mediated by integrin alpha6beta4 to laminin 5 (epiligrin) regulates tyrosine phosphorylation of a membrane-associated 80-kD protein

1 reference

https://api.crossref.org/works/10.1016%2FS0945-053X%2898%2900005-5

7 January 2021

10.1016/S0945-053X(98)00005-5

Identifiers

DOI

1 reference

release_p3wt73kuiba4lgkxsbhmlikrnu

28 July 2017

Fatcat ID

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Fatcat

https://api.fatcat.wiki/v0/release/p3wt73kuiba4lgkxsbhmlikrnu

24 November 2022

mapped directly with Wikidata item

1 reference