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

Familial pityriasis rubra pilaris is caused by mutations in CARD14.

American journal of human genetics - 13 Jul 2012

Fuchs-Telem Dana, Sarig Ofer, van Steensel Maurice A M, Isakov Ofer, Israeli Shirli, Nousbeck Janna, Richard Katharina, Winnepenninckx Veronique, Vernooij Marigje, Shomron Noam, Uitto Jouni, Fleckman Philip, Richard Gabriele, Sprecher Eli

Abstract excerpt

Pityriasis rubra pilaris (PRP) is a papulosquamous disorder phenotypically related to psoriasis. The disease has been occasionally shown to be inherited in an autosomal-dominant fashion. To identify the genetic cause of familial PRP, we ascertained four unrelated families affected by autosomal-dominant PRP. We initially mapped PRP to 17q25.3, a region overlapping with psoriasis susceptibility locus 2 (PSORS2 [MIM...

Read the complete abstract on PubMed

Topics

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

Share to Base Sequence
Share to CARD Signaling Adaptor Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Child, Preschool

Share to Guanylate Cyclase

Share to Membrane Proteins

Share to Pedigree

Source

Open in PubMed Open full text

Identifiers

PMID: 22703878
DOI: 10.1016/j.ajhg.2012.05.010
PMCID: PMC3397268

Genes

CARD14

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

Familial pityriasis rubra pilaris is caused by mutations in CARD14.PMID 22703878Read ↗

CARD14-associated papulosquamous eruption: A spectrum including features of psoriasis and pityriasis rubra pilaris.Semantic proximity Read ↗

Activating CARD14 Mutations Are Associated with Generalized Pustular Psoriasis but Rarely Account for Familial Recurrence in Psoriasis Vulgaris.Semantic proximity Read ↗

PSORS2 is due to mutations in CARD14.Semantic proximity Read ↗

A novel mutation in a CARD14-associated papulosquamous eruption.Semantic proximity Read ↗

Beneficial effect of ustekinumab in familial pityriasis rubra pilaris with a new missense mutation in CARD14Semantic proximity Read ↗

IL-17 axis is a significant driver of skin inflammation in Card14 mutant pityriasis rubra pilaris model miceSemantic proximity Read ↗

Pityriasis Rubra Pilaris Type V as an Autoinflammatory Disease by CARD14 Mutations.Semantic proximity Read ↗

Rare and common variants in CARD14, encoding an epidermal regulator of NF-kappaB, in psoriasis.Semantic proximity Read ↗

CARD 14 Glu138 mutation in familial pityriasis rubra pilaris does not warrant differentiation from familial psoriasisSemantic proximity Read ↗

Updating and identifying three novel variants of the CARD14 gene in Chinese Han patients with psoriasis.Semantic proximity Read ↗

Autosomal dominant familial generalized pustular psoriasis caused by a CARD14 mutation.Semantic proximity Read ↗

Whole exome sequencing approach to childhood onset familial erythrodermic psoriasis unravels a novel mutation of CARD14 requiring unusual high doses of ustekinumabSemantic proximity Read ↗

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