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

Mutations in KRT5 and KRT14 cause epidermolysis bullosa simplex in 75% of the patients.

The British journal of dermatology - 1 Mar 2011

Bolling M C, Lemmink H H, Jansen G H L, Jonkman M F

Abstract excerpt

BACKGROUND: Epidermolysis bullosa simplex (EBS) is a mechanobullous genodermatosis that may be caused by mutations in the genes KRT5 and KRT14 encoding the basal epidermal keratins 5 (K5) and 14 (K14). Three main clinical subtypes of EBS exist, differing in onset, distribution and severity of skin blistering. Previous reports of KRT5 and KRT14 mutations suggest a correlation between the location of the mutation...

Read the complete abstract on PubMed

Topics

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

Share to Epidermolysis Bullosa Simplex
Share to Family
Share to Genetic Predisposition to Disease

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Genotype

Share to Keratin-14

Share to Keratin-5

Share to Phenotype

Share to Sequence Analysis, DNA

Source

Identifiers

PMID: 21375516
DOI: 10.1111/j.1365-2133.2010.10146.x

Genes

KRT14
KRT5

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. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutations in KRT5 and KRT14 cause epidermolysis bullosa simplex in 75% of the patients.PMID 21375516Read ↗

Identification of novel and known KRT5 and KRT14 mutations in 53 patients with epidermolysis bullosa simplex: correlation between genotype and phenotype.Semantic proximity Read ↗

Novel sporadic and recurrent mutations in KRT5 and KRT14 genes in Polish epidermolysis bullosa simplex patients: further insights into epidemiology and genotype-phenotype correlation.Semantic proximity Read ↗

Keratins and epidermolysis bullosa simplexSemantic proximity Read ↗

Novel and recurrent mutations in keratin KRT5 and KRT14 genes in epidermolysis bullosa simplex: implications for disease phenotype and keratin filament assembly.Semantic proximity Read ↗

Epidermolysis bullosa simplex in Scotland caused by a spectrum of keratin mutations.Semantic proximity Read ↗

Novel and recurrent mutations in Keratin 5 and 14 in Korean patients with Epidermolysis bullosa simplex.Semantic proximity Read ↗

A Review of 52 Pedigrees with Epidermolysis Bullosa Simplex Identifying Ten Novel Mutations in KRT5 and KRT14 in Australia.Semantic proximity Read ↗

Clinical heterogeneity in recessive epidermolysis bullosa due to mutations in the keratin 14 gene, KRT14.Semantic proximity Read ↗

Mutation analysis of the entire keratin 5 and 14 genes in patients with epidermolysis bullosa simplex and identification of novel mutations.Semantic proximity Read ↗

Novel keratin 5 and 14 gene mutations in patients with epidermolysis bullosa simplex from Poland.Semantic proximity Read ↗

Pathological Mechanisms Involved in Epidermolysis Bullosa Simplex: Current Knowledge and Therapeutic Perspectives.Semantic proximity Read ↗

Recently Identified Forms of Epidermolysis BullosaSemantic proximity Read ↗

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