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 Defect in NIPAL4 Is Associated with Autosomal Recessive Congenital Ichthyosis in American Bulldogs.

PloS one - 1 Jan 2017

Casal Margret L, Wang Ping, Mauldin Elizabeth A, Lin Gloria, Henthorn Paula S

Abstract excerpt

Autosomal recessive congenital ichthyosis in the American bulldog is characterized by generalized scaling and erythema with adherent scale on the glabrous skin. We had previously linked this disorder to NIPAL4, which encodes the protein ichthyin. Sequencing of NIPAL4 revealed a homozygous single base deletion (CanFam3.1 canine reference genome sequence NC_06586.3 g.52737379del), the 157th base (cytosine) in exon...

Read the complete abstract on PubMed

Topics

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

Share to Alleles
Share to Dog Diseases
Share to Dogs

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genes, Recessive

Share to Ichthyosis

Share to Mutation

Share to Receptors, Cell Surface

Share to Skin and Cellular Biology Research

Source

Open in PubMed Open full text

Identifiers

PMID: 28122049
DOI: 10.1371/journal.pone.0170708
PMCID: PMC5266318

Genes

NIPAL4

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

A Defect in NIPAL4 Is Associated with Autosomal Recessive Congenital Ichthyosis in American Bulldogs.PMID 28122049Read ↗

Autosomal Recessive Congenital Ichthyosis in American Bulldogs Is Associated With NIPAL4 (ICHTHYIN) Deficiency.Semantic proximity Read ↗

Prevalence and genotypic distribution of non-epidermolytic ichthyosis in Italian Golden Retrievers.Semantic proximity Read ↗

Heterozygous DSP in-frame deletion in a poodle with syndromic ichthyosis involving additional hair and tooth abnormalities.Semantic proximity Read ↗

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

A Novel SLC27A4 Splice Acceptor Site Mutation in Great Danes with Ichthyosis.Semantic proximity Read ↗

[Spontaneous models of human diseases in dogs: ichthyoses as an example].Semantic proximity Read ↗

Parallel mapping and simultaneous sequencing reveals deletions in BCAN and FAM83H associated with discrete inherited disorders in a domestic dog breed.Semantic proximity Read ↗

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

Manifestation of diffuse yellowish keratoderma on the palms and soles in autosomal recessive congenital ichthyosis patients may be indicative of mutations in NIPAL4.Semantic proximity Read ↗

Dog10K: an international sequencing effort to advance studies of canine domestication, phenotypes and healthSemantic proximity Read ↗

Sequencing of ABCA12 gene in severe congenital skin diseaseSemantic proximity Read ↗

Identification of a novel missense mutation in NIPAL4 gene: First 3D model construction predicted its pathogenicity.Semantic proximity Read ↗

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