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

Knuckle pads, in an epidermal palmoplantar keratoderma patient with Keratin 9 R163W transgrediens expression.

European journal of dermatology : EJD - 1 Jan 2000

Codispoti Andrea, Colombo Enrico, Zocchi Loredana, Serra Valeria, Pertusi Ginevra, Leigheb Giorgio, Tiberio Rossana, Bornacina Guido, Zuccoli Riccardo, Ramponi Antonio, Campione Elena, Melino Gerry, Terrinoni Alessandro

Abstract excerpt

Epidermolytic PalmoPlantar keratoderma (EPPK) Vörner-type is an autosomal dominantly inherited skin disease, characterized by severe thickening of the palms and soles, caused by mutations in the keratin K9 (KRT9) gene. To date, a number of KRT9 mutations have been detected, most of which affect the highly conserved 1A region of the central alpha-helical domain, important for keratin heterodimerization. The most...

Read the complete abstract on PubMed

Topics

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

Share to Fingers
Share to Italy

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation, Missense

Share to Pedigree

Share to Phenotype

Share to Reverse Transcriptase Polymerase Chain Reaction

Share to Sequence Analysis, DNA

Source

Identifiers

PMID: 19106041
DOI: 10.1684/ejd.2008.0575

Genes

KRT9

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

Knuckle pads, in an epidermal palmoplantar keratoderma patient with Keratin 9 R163W transgrediens expression.PMID 19106041Read ↗

The most common mutation of KRT9, c.C487T (p.R163W), in epidermolytic palmoplantar keratoderma in two large Chinese pedigrees.Semantic proximity Read ↗

A novel mutation of keratin 9 in epidermolytic palmoplantar keratoderma combined with knuckle pads.Semantic proximity Read ↗

Six generations of epidermolytic palmoplantar keratoderma, associated with a KRT9 R163W mutation.Semantic proximity Read ↗

Possible anticipation in familial epidermolytic palmoplantar keratoderma with the p.R163W mutation of Keratin 9.Semantic proximity Read ↗

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

R162W mutation of keratin 9 in a family with autosomal dominant palmoplantar keratoderma with unique histologic features.Semantic proximity Read ↗

A novel mutation of keratin 9 gene (R162P) in a Japanese family with epidermolytic palmoplantar keratoderma.Semantic proximity Read ↗

Identification of the keratin K9 R162W mutation in patients of Italian origin with epidermolytic palmoplantar keratoderma.Semantic proximity Read ↗

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

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

Mutations in the keratin 9 gene in Pakistani families with epidermolytic palmoplantar keratoderma.Semantic proximity Read ↗

[Pathological features and gene mutation analysis in two pedigrees of diffuse palmoplantar keratoderma].Semantic proximity Read ↗

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