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

A mutation in the V1 end domain of keratin 1 in non-epidermolytic palmar-plantar keratoderma.

The Journal of investigative dermatology - 1 Dec 1994

Kimonis V, DiGiovanna J J, Yang J M, Doyle S Z, Bale S J, Compton J G

Abstract excerpt

Mutations in keratin 9 have been found in families with an epidermolytic form of palmar-plantar keratoderma (PPK). In another form of PPK (Unna-Thost type), epidermolysis is not observed histologically. We studied a pedigree with this non-epidermolytic form of PPK. By gene linkage analysis, the type I keratin locus could be excluded but complete linkage with the type II keratin region was found. Sequence analysis...

Read the complete abstract on PubMed

Topics

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

Share to Amino Acid Sequence
Share to Base Sequence
Share to Gene Amplification

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

Share to Genetic Linkage

Share to Lysine

Share to Molecular Sequence Data

Share to Mutation

Share to Pedigree

Source

Identifiers

PMID: 7528239
DOI: 10.1111/1523-1747.ep12412771

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

A mutation in the V1 end domain of keratin 1 in non-epidermolytic palmar-plantar keratoderma.PMID 7528239Read ↗

Mutations in the 1A domain of keratin 9 in patients with epidermolytic palmoplantar keratoderma.Semantic proximity Read ↗

Ultrastructural changes resulting from keratin-9 gene mutations in two families with epidermolytic palmoplantar keratoderma.Semantic proximity Read ↗

Mutation S233L in the 1B domain of keratin 1 causes epidermolytic palmoplantar keratoderma with "tonotubular" keratin.Semantic proximity Read ↗

Atypical epidermolytic palmoplantar keratoderma presentation associated with a mutation in the keratin 1 gene.Semantic proximity Read ↗

Epidermolytic palmoplantar keratoderma due to a novel type of keratin mutation, a 3-bp insertion in the keratin 9 helix termination motif.Semantic proximity Read ↗

Keratin 9 mutations in the coil 1A region in epidermolytic palmoplantar keratoderma.Semantic proximity Read ↗

Mutations in the highly conserved 1A rod domain of keratin 9 responsible for epidermolytic palmoplantar keratoderma in four Chinese families.Semantic proximity Read ↗

Keratin 9 gene mutational heterogeneity in patients with epidermolytic palmoplantar keratoderma.Semantic proximity Read ↗

De novo mutation of keratin 9 gene in two Taiwanese patients with epidermolytic palmoplantar keratoderma.Semantic proximity Read ↗

Nonsense mutations in KRT1 caused recessive epidermolytic palmoplantar keratoderma with knuckle pads.Semantic proximity Read ↗

A novel mutation of keratin 9 in a large Chinese family with epidermolytic palmoplantar keratoderma.Semantic proximity Read ↗

Keratin 9 gene mutations in five Korean families with epidermolytic palmoplantar keratoderma.Semantic proximity Read ↗

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