ArticleExperimental dermatology2009
Autosomal recessive woolly hair with hypotrichosis caused by a novel homozygous mutation in the P2RY5 gene.
Article in Experimental dermatology, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 33 citations in OpenAlex.
- Diagnosis and treatment of isolated autosomal recessive woolly hair/hypotrichosis.Frontiers in medicine · 2025Review
- Roles of lysophosphatidic acid (LPA) receptor-mediated signaling in cancer cell biology.Journal of bioenergetics and biomembranes · 2024Review
- Pleotropic Roles of Autotaxin in the Nervous System Present Opportunities for the Development of Novel Therapeutics for Neurological Diseases.Molecular neurobiology · 2020Review
- Production of extracellular lysophosphatidic acid in the regulation of adipocyte functions and liver fibrosis.World journal of gastroenterology · 2018Review
- A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair.Journal of medical genetics · 2015Article
- Lysophospholipid receptor nomenclature review: IUPHAR Review 8.British journal of pharmacology · 2014Review
- LPA receptor signaling: pharmacology, physiology, and pathophysiology.Journal of lipid research · 2014Review
- Mutations in the cholesterol transporter gene ABCA5 are associated with excessive hair overgrowth.PLoS genetics · 2014Article
- To the Root of the Curl: A Signature of a Recent Selective Sweep Identifies a Mutation That Defines the Cornish Rex Cat Breed.PloS one · 2013Article
- Article
- Identification and characterization of a novel lysophosphatidic acid receptor, p2y5/LPA6.The Journal of biological chemistry · 2009Article
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
Abstract
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 involvement of P2RY5 mutations in hereditary hair diseases, the clinical manifestations of P2RY5 mutations have not completely been elucidated because of limited information to date. In this study, we ascertained a consanguineous family of Iranian origin with an affected girl showing sparse and hypopigmented scalp hair. She exhibited the WH phenotype with normal hair density at birth, but progressed with age to develop hypotrichosis. Direct sequencing analysis resulted in the identification of a novel homozygous mutation in the P2RY5 gene of the patient, which results in a non-conservative amino acid change, G146R, at the protein level. Our findings extend the mutation spectrum of P2RY5 mutations, and further support a crucial role of P2Y5 in hair growth in humans.
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