Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Truncated typeXVII collagen expression in a patient with non-herlitz junctional epidermolysis bullosa caused by a homozygous splice-site mutation.

Laboratory investigation; a journal of technical methods and pathology - 1 Jun 2001

van Leusden M R, Pas H H, Gedde-Dahl T, Sonnenberg A, Jonkman M F

Abstract excerpt

SUMMARY: Type XVII collagen (180-kDa bullous pemphigoid antigen) is a structural component of hemidesmosomes. Mutations in the type XVII collagen gene (COL17A1) have been established to be the molecular basis of non-Herlitz junctional epidermolysis bullosa (JEB-nH), an inherited skin blistering disorder. Here we report for the first time truncated type XVII collagen expression, caused by homozygosity for a...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Collagen
Share to DNA, Recombinant

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Epidermolysis Bullosa

Share to Fluorescent Antibody Technique

Share to Homozygote

Share to Immunoblotting

Share to Peptide Fragments

Share to RNA, Messenger

Source

Identifiers

PMID: 11406649
DOI: 10.1038/labinvest.3780297

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Truncated typeXVII collagen expression in a patient with non-herlitz junctional epidermolysis bullosa caused by a homozygous splice-site mutation.PMID 11406649Read ↗

A Homozygous Nonsense Mutation in Type XVII Collagen Gene (COL17A1) Uncovers an Alternatively Spliced mRNA Accounting for an Unusually Mild Form of Non-Herlitz Junctional Epidermolysis BullosaSemantic proximity Read ↗

Type XVII collagen gene mutations in junctional epidermolysis bullosa and prospects for gene therapy.Semantic proximity Read ↗

Molecular mechanisms of phenotypic variability in junctional epidermolysis bullosa.Semantic proximity Read ↗

Cloning of the human type XVII collagen gene (COL17A1), and detection of novel mutations in generalized atrophic benign epidermolysis bullosa.Semantic proximity Read ↗

Features of epidermolysis bullosa simplex due to mutations in the ectodomain of type XVII collagen.Semantic proximity Read ↗

Junctional epidermolysis bullosa of late onset explained by mutations in COL17A1.Semantic proximity Read ↗

Amino acid duplication in the coiled-coil structure of collagen XVII alters its maturation and trimerization causing mild junctional epidermolysis bullosa.Semantic proximity Read ↗

Analysis of the COL17A1 in non-Herlitz junctional epidermolysis bullosa and amelogenesis imperfecta.Semantic proximity Read ↗

Localized and generalized forms of blistering in junctional epidermolysis bullosa due to COL17A1 mutations in the Netherlands.Semantic proximity Read ↗

Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa.Semantic proximity Read ↗

Heterogeneity of severe dystrophic epidermolysis bullosa: overexpression of collagen VII by cutaneous cells from a patient with mutilating disease.Semantic proximity Read ↗

Deletion of the cytoplasmatic domain of BP180/collagen XVII causes a phenotype with predominant features of epidermolysis bullosa simplex.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.