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

Autosomal recessive woolly hair with hypotrichosis caused by a novel homozygous mutation in the P2RY5 gene.

Experimental dermatology - 1 Mar 2009

Shimomura Yutaka, Garzon Maria C, Kristal Leonard, Shapiro Lawrence, Christiano Angela M

Abstract excerpt

During the last decade, several causative genes for hereditary hair diseases have been identified, which have disclosed the molecular mechanisms involved in hair follicle morphogenesis and cycling. We and others recently reported that mutations in the P2RY5 gene, encoding an orphan G protein-coupled receptor, underlie autosomal recessive woolly hair (WH)/hypotrichosis. Although these findings clearly reveal the...

Read the complete abstract on PubMed

Topics

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

Share to Hair
Share to Homozygote
Share to Hypotrichosis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Lipase

Share to Lysophospholipids

Share to Pedigree

Share to Receptors, Purinergic P2

Source

Open in PubMed Open full text

Identifiers

PMID: 18803659
DOI: 10.1111/j.1600-0625.2008.00788.x
PMCID: PMC2914544

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.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Autosomal recessive woolly hair with hypotrichosis caused by a novel homozygous mutation in the P2RY5 gene.PMID 18803659Read ↗

Genome-wide linkage analysis of an autosomal recessive hypotrichosis identifies a novel P2RY5 mutation.Semantic proximity Read ↗

Novel mutations in the P2RY5 gene in one Turkish and two Indian patients presenting with hypotrichosis and woolly hair.Semantic proximity Read ↗

Mutations in the P2RY5 gene underlie autosomal recessive hypotrichosis in 13 Pakistani families.Semantic proximity Read ↗

Disruption of P2RY5, an orphan G protein–coupled receptor, underlies autosomal recessive woolly hairSemantic proximity Read ↗

A novel deletion mutation in P2RY5/LPA(6) gene cause autosomal recessive woolly hair with hypotrichosis.Semantic proximity Read ↗

Mutations in LPAR6/P2RY5 and LIPH are associated with woolly hair and/or hypotrichosis.Semantic proximity Read ↗

[Genetic hair diseases. An update].Semantic proximity Read ↗

Mutations in the lipase H gene underlie autosomal recessive woolly hair/hypotrichosis.Semantic proximity Read ↗

Hair shaft abnormalities in localized autosomal recessive hypotrichosis 2 and a review of other non-syndromic human alopecias.Semantic proximity Read ↗

Update of recent findings in genetic hair disorders.Semantic proximity Read ↗

Novel mutations in the lipase H gene lead to secretion defects of LIPH in Chinese patients with autosomal recessive woolly hair/hypotrichosis (ARWH/HT).Semantic proximity Read ↗

Novel small-insertion mutation in the LIPH gene in a patient with autosomal recessive woolly hair/hypotrichosis.Semantic proximity Read ↗

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