Epidermolysis bullosa: a spectrum of clinical phenotypes explained by molecular heterogeneity (Q41633647)

5 October 2017

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title

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

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5 October 2017

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epidermolysis bullosa

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3

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5 October 2017

Uitto J

1

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PubMed ID

9358473

5 October 2017

Pulkkinen L

series ordinal

2

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5 October 2017

1 October 1997

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Trends in Molecular Medicine

5 October 2017

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5 October 2017

3

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5 October 2017

10

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5 October 2017

457-465

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

5 October 2017

1 reference

https://api.crossref.org/works/10.1016%2FS1357-4310%2897%2901112-X

7 January 2021

Molecular biology of the 230-kD bullous pemphigoid antigen. Cloning of the BPAG1 gene and its tissue-specific expression

1 reference

https://api.crossref.org/works/10.1016%2FS1357-4310%2897%2901112-X

7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS1357-4310%2897%2901112-X

7 January 2021

Cloning and primary structural analysis of the bullous pemphigoid autoantigen BP180

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https://api.crossref.org/works/10.1016%2FS1357-4310%2897%2901112-X

7 January 2021

Integrin alpha 6/beta 4 complex is located in hemidesmosomes, suggesting a major role in epidermal cell-basement membrane adhesion

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https://api.crossref.org/works/10.1016%2FS1357-4310%2897%2901112-X

7 January 2021

A new nomenclature for the laminins

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https://api.crossref.org/works/10.1016%2FS1357-4310%2897%2901112-X

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%2FS1357-4310%2897%2901112-X

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

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https://api.crossref.org/works/10.1016%2FS1357-4310%2897%2901112-X

7 January 2021

Intermediate filaments in disease

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https://api.crossref.org/works/10.1016%2FS1357-4310%2897%2901112-X

7 January 2021

Human keratin diseases: hereditary fragility of specific epithelial tissues

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https://api.crossref.org/works/10.1016%2FS1357-4310%2897%2901112-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1357-4310%2897%2901112-X

7 January 2021

Concurrence between the molecular overlap regions in keratin intermediate filaments and the locations of keratin mutations in genodermatoses

1 reference

https://api.crossref.org/works/10.1016%2FS1357-4310%2897%2901112-X

7 January 2021

Deletions in epidermal keratins leading to alterations in filament organization in vivo and in intermediate filament assembly in vitro

1 reference

https://api.crossref.org/works/10.1016%2FS1357-4310%2897%2901112-X

7 January 2021

Epidermolysis Bullosa Simplex (Dowling-Meara Type) Is a Genetic Disease Characterized by an Abnormal Keratin-Filament Network Involving Keratins K5 and K14

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https://api.crossref.org/works/10.1016%2FS1357-4310%2897%2901112-X

7 January 2021

Mutant keratin expression in transgenic mice causes marked abnormalities resembling a human genetic skin disease

1 reference

https://api.crossref.org/works/10.1016%2FS1357-4310%2897%2901112-X

7 January 2021

Effects of keratin 14 ablation on the clinical and cellular phenotype in a kindred with recessive epidermolysis bullosa simplex

1 reference

https://api.crossref.org/works/10.1016%2FS1357-4310%2897%2901112-X

7 January 2021

A mutation in the V1 domain of keratin 5 causes epidermolysis bullosa simplex with mottled pigmentation.

1 reference

https://api.crossref.org/works/10.1016%2FS1357-4310%2897%2901112-X

7 January 2021

Desmosomes and hemidesmosomes: structure and function of molecular components.

1 reference

https://api.crossref.org/works/10.1016%2FS1357-4310%2897%2901112-X

7 January 2021

A homozygous nonsense mutation in the PLEC1 gene in patients with epidermolysis bullosa simplex with muscular dystrophy

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https://api.crossref.org/works/10.1016%2FS1357-4310%2897%2901112-X

7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS1357-4310%2897%2901112-X

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%2FS1357-4310%2897%2901112-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1357-4310%2897%2901112-X

7 January 2021

Targeted disruption of the pemphigus vulgaris antigen (desmoglein 3) gene in mice causes loss of keratinocyte cell adhesion with a phenotype similar to pemphigus vulgaris

1 reference

https://api.crossref.org/works/10.1016%2FS1357-4310%2897%2901112-X

7 January 2021

Localization of a locus for the striated form of palmoplantar keratoderma to chromosome 18q near the desmosomal cadherin gene cluster.

1 reference

https://api.crossref.org/works/10.1016%2FS1357-4310%2897%2901112-X

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%2FS1357-4310%2897%2901112-X

7 January 2021

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/10.1016%2FS1357-4310%2897%2901112-X

7 January 2021

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/10.1016%2FS1357-4310%2897%2901112-X

7 January 2021

Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversion

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https://api.crossref.org/works/10.1016%2FS1357-4310%2897%2901112-X

7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS1357-4310%2897%2901112-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1357-4310%2897%2901112-X

7 January 2021

Novel ITGB4 mutations in a patient with junctional epidermolysis bullosa-pyloric atresia syndrome and altered basement membrane zone immunofluorescence for the alpha6beta4 integrin

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https://api.crossref.org/works/10.1016%2FS1357-4310%2897%2901112-X

7 January 2021

Absence of integrin alpha 6 leads to epidermolysis bullosa and neonatal death in mice.

1 reference

https://api.crossref.org/works/10.1016%2FS1357-4310%2897%2901112-X

7 January 2021

Epithelial detachment due to absence of hemidesmosomes in integrin beta 4 null mice

1 reference

https://api.crossref.org/works/10.1016%2FS1357-4310%2897%2901112-X

7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS1357-4310%2897%2901112-X

7 January 2021

Mutation-based prenatal diagnosis of Herlitz junctional epidermolysis bullosa

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https://api.crossref.org/works/10.1016%2FS1357-4310%2897%2901112-X

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%2FS1357-4310%2897%2901112-X

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%2FS1357-4310%2897%2901112-X

7 January 2021

10.1016/S1357-4310(97)01112-X

Identifiers

DOI

1 reference

5 October 2017

1 reference

PubMed ID

9358473