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

Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa.

American journal of human genetics - 1 Oct 2005

Jonkman Marcel F, Pasmooij Anna M G, Pasmans Suzanne G M A, van den Berg Maarten P, Ter Horst Henk J, Timmer Albertus, Pas Hendri H

Abstract excerpt

The cytoplasmic plaque protein desmoplakin (DP), which is located in desmosomes, plays a major role in epithelial and muscle cell adhesion by linking the transmembrane cadherins to the cytoplasmic intermediate filament network. Mutations of DP may cause striate palmoplantar keratoderma, arrhythmogenic right ventricular dysplasia, skin fragility/woolly hair syndrome, Naxos-like disease, and Carvajal syndrome. DP...

Read the complete abstract on PubMed

Topics

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

Share to Cytoskeletal Proteins
Share to Desmoplakins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Desmosomes

Share to Epidermolysis Bullosa

Share to Fatal Outcome

Share to Fluorescent Antibody Technique

Share to Genes, Lethal

Share to Microscopy, Electron

Source

Open in PubMed Open full text

Identifiers

PMID: 16175511
DOI: 10.1086/496901
PMCID: PMC1275614

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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

Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa.PMID 16175511Read ↗

Lethal acantholytic epidermolysis bullosa due to a novel homozygous deletion in DSP: expanding the phenotype and implications for desmoplakin function in skin and heart.Semantic proximity Read ↗

Lethal acantholytic epidermolysis bullosa.Semantic proximity Read ↗

Korean Monozygotic Twins with Lethal Acantholytic Epidermolysis Bullosa Caused by Two Novel DSP Mutations.Semantic proximity Read ↗

Desmosomal genodermatoses.Semantic proximity Read ↗

Mutations in genes encoding desmosomal proteins: spectrum of cutaneous and extracutaneous abnormalities.Semantic proximity Read ↗

Compound heterozygous desmoplakin mutations result in a phenotype with a combination of myocardial, skin, hair, and enamel abnormalities.Semantic proximity Read ↗

Insights from a Desmoplakin Mutation Identified in Lethal Acantholytic Epidermolysis BullosaSemantic proximity Read ↗

Novel homozygous mutation in DSP causing skin fragility-woolly hair syndrome: report of a large family and review of the desmoplakin-related phenotypes.Semantic proximity Read ↗

Molecular abnormalities of the desmosomal protein desmoplakin in human disease.Semantic proximity Read ↗

Lack of plakoglobin leads to lethal congenital epidermolysis bullosa: a novel clinico-genetic entitySemantic proximity Read ↗

The Desmosomal Plaque Proteins of the Plakophilin FamilySemantic proximity Read ↗

Unique epidermolytic bullous dermatosis with associated lethal cardiomyopathy related to novel desmoplakin mutations.Semantic proximity Read ↗

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