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

Mild recessive epidermolytic hyperkeratosis associated with a novel keratin 10 donor splice-site mutation in a family of Norfolk terrier dogs

1 Jul 2005

Abstract excerpt

BACKGROUND: Epidermolytic hyperkeratosis in humans is caused by dominant-negative mutations in suprabasal epidermal keratins 1 and 10. However, spontaneous keratin mutations have not been confirmed in a species other than human. OBJECTIVES: To describe an autosomal recessive, mild, nonpalmar/plantar epidermolytic ichthyosis segregating in an extended pedigree of Norfolk terrier dogs due to a splice-site mutation...

Read the complete abstract on PubMed

Topics

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

Share to Cancer and Skin Lesions
Share to Genetic and rare skin diseases.
Share to Skin and Cellular Biology Research

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 16029326
DOI: 10.1111/j.1365-2133.2005.06735.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mild recessive epidermolytic hyperkeratosis associated with a novel keratin 10 donor splice-site mutation in a family of Norfolk terrier dogsPMID 16029326Read ↗

Lethal autosomal recessive epidermolytic ichthyosis due to a novel donor splice-site mutation in KRT10.Semantic proximity Read ↗

Mutations in KRT10 in epidermolytic acanthoma.Semantic proximity Read ↗

A human keratin 10 knockout causes recessive epidermolytic hyperkeratosis.Semantic proximity Read ↗

Preservation of phenotype in an organotypic cell culture model of a recessive keratinization defect of Norfolk terrier dogs.Semantic proximity Read ↗

Genetics of inherited skin disorders in dogs.Semantic proximity Read ↗

KRT5 in-frame deletion in a family of German Shepherd dogs with split paw pad disease resembling localized epidermolysis bullosa simplex in human patients.Semantic proximity Read ↗

Novel Homozygous ADAMTS2 Variants and Associated Disease Phenotypes in Dogs with Dermatosparactic Ehlers-Danlos Syndrome.Semantic proximity Read ↗

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

Expanding the keratin mutation database: novel and recurrent mutations and genotype-phenotype correlations in 28 patients with epidermolytic ichthyosis.Semantic proximity Read ↗

A de novo variant in the ASPRV1 gene in a dog with ichthyosis.Semantic proximity Read ↗

A de novo variant in the keratin 1 gene (KRT1) in a Chinese shar-pei dog with severe congenital cornification disorder and non-epidermolytic ichthyosis.Semantic proximity Read ↗

Mutations Affecting Keratin 10 Surface-Exposed Residues Highlight the Structural Basis of Phenotypic Variation in Epidermolytic Ichthyosis.Semantic proximity Read ↗

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