(Q33690047)

28 July 2017

1 reference

title

Update on inherited bullous dermatoses (English)

1 reference

28 July 2017

Marinkovich MP

1

1 reference

28 July 2017

publication date

1 July 1999

1 reference

28 July 2017

1 reference

28 July 2017

volume

17

1 reference

28 July 2017

issue

3

1 reference

28 July 2017

page(s)

473-85, vii

1 reference

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

28 July 2017

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8635%2805%2970102-9

7 January 2021

A perspective on the role of collagenase in recessive dystrophic epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8635%2805%2970102-9

7 January 2021

Epidermolysis Bullosa Simplex: Evidence in Two Families for Keratin Gene Abnormalities

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8635%2805%2970102-9

7 January 2021

Role of the bullous pemphigoid antigen 180 (BP180) in the assembly of hemidesmosomes and cell adhesion--reexpression of BP180 in generalized atrophic benign epidermolysis bullosa keratinocytes.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8635%2805%2970102-9

7 January 2021

The localization of bullous pemphigoid antigen 180 (BP180) in hemidesmosomes is mediated by its cytoplasmic domain and seems to be regulated by the beta4 integrin subunit

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8635%2805%2970102-9

7 January 2021

The dermal-epidermal junction

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8635%2805%2970102-9

7 January 2021

The structure and function of type VII collagen

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8635%2805%2970102-9

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%2FS0733-8635%2805%2970102-9

7 January 2021

A human keratin 14 "knockout": the absence of K14 leads to severe epidermolysis bullosa simplex and a function for an intermediate filament protein

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8635%2805%2970102-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8635%2805%2970102-9

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

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8635%2805%2970102-9

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%2FS0733-8635%2805%2970102-9

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%2FS0733-8635%2805%2970102-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8635%2805%2970102-9

7 January 2021

Sustainable cutaneous gene delivery

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8635%2805%2970102-9

7 January 2021

Epidermolysis bullosa resembling juvenile dermatitis herpetiformis

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8635%2805%2970102-9

7 January 2021

Developmental expression of BPAG1-n: insights into the spastic ataxia and gross neurologic degeneration in dystonia musculorum mice

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8635%2805%2970102-9

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%2FS0733-8635%2805%2970102-9

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%2FS0733-8635%2805%2970102-9

7 January 2021

Genetic Skin Disorders of Keratin

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8635%2805%2970102-9

7 January 2021

The expression of keratin genes in epidermis and cultured epidermal cells

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8635%2805%2970102-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8635%2805%2970102-9

7 January 2021

Functional Re-expression of laminin-5 in laminin-gamma2-deficient human keratinocytes modifies cell morphology, motility, and adhesion

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8635%2805%2970102-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8635%2805%2970102-9

7 January 2021

Cloning and primary structural analysis of the bullous pemphigoid autoantigen BP180

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8635%2805%2970102-9

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%2FS0733-8635%2805%2970102-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8635%2805%2970102-9

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%2FS0733-8635%2805%2970102-9

7 January 2021

Gene transfer into cultured human epidermis and its transplantation onto immunodeficient mice: an experimental model for somatic gene therapy

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8635%2805%2970102-9

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%2FS0733-8635%2805%2970102-9

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%2FS0733-8635%2805%2970102-9

7 January 2021

Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversion

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8635%2805%2970102-9

7 January 2021

A homozygous nonsense mutation in the alpha 3 chain gene of laminin 5 (LAMA3) in lethal (Herlitz) junctional epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8635%2805%2970102-9

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%2FS0733-8635%2805%2970102-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8635%2805%2970102-9

7 January 2021

The basal keratin network of stratified squamous epithelia: defining K15 function in the absence of K14.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8635%2805%2970102-9

7 January 2021

The dermal-epidermal junction of human skin contains a novel laminin variant

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8635%2805%2970102-9

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%2FS0733-8635%2805%2970102-9

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%2FS0733-8635%2805%2970102-9

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%2FS0733-8635%2805%2970102-9

7 January 2021

Hemidesmosomes show abnormal association with the keratin filament network in junctional forms of epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8635%2805%2970102-9

7 January 2021

Kalinin is abnormally expressed in epithelial basement membranes of Herlitz's junctional epidermolysis bullosa patients

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8635%2805%2970102-9

7 January 2021

Establishment and characterization of cell line LSV5 that retains the altered adhesive properties of human junctional epidermolysis bullosa keratinocytes

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8635%2805%2970102-9

7 January 2021

The alpha 6 beta 4 integrin is a receptor for both laminin and kalinin

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8635%2805%2970102-9

7 January 2021

Studies on the pathogenesis of epidermolysis bullosa.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8635%2805%2970102-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8635%2805%2970102-9

7 January 2021

A homozygous nonsense mutation in the beta 3 chain gene of laminin 5 (LAMB3) in Herlitz junctional epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8635%2805%2970102-9

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%2FS0733-8635%2805%2970102-9

7 January 2021

Linking integrin alpha6beta4-based cell adhesion to the intermediate filament cytoskeleton: direct interaction between the beta4 subunit and plectin at multiple molecular sites.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8635%2805%2970102-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8635%2805%2970102-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8635%2805%2970102-9

7 January 2021

A functional "knockout" of human keratin 14

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8635%2805%2970102-9

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%2FS0733-8635%2805%2970102-9

7 January 2021

BP180 gene delivery in junctional epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8635%2805%2970102-9

7 January 2021

Intra-epidermal retention of type VII collagen in a patient with recessive dystrophic epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8635%2805%2970102-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8635%2805%2970102-9

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%2FS0733-8635%2805%2970102-9

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%2FS0733-8635%2805%2970102-9

7 January 2021

Hemidesmosome heterogeneity in junctional epidermolysis bullosa revealed by morphometric analysis

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8635%2805%2970102-9

7 January 2021

Molecular basis of the dystrophic and junctional forms of epidermolysis bullosa: mutations in the type VII collagen and kalinin (laminin 5) genes

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8635%2805%2970102-9

7 January 2021

The genetic basis of epidermolysis bullosa simplex with mottled pigmentation

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8635%2805%2970102-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8635%2805%2970102-9

7 January 2021

Surgical treatment of contracture and syndactyly of children with epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8635%2805%2970102-9

7 January 2021

10.1016/S0733-8635(05)70102-9

Identifiers

DOI

1 reference

28 July 2017

1 reference