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Article

Mutations in LPAR6/P2RY5 and LIPH are associated with woolly hair and/or hypotrichosis.

Journal of the European Academy of Dermatology and Venereology : JEADV - 1 May 2013

Kurban M, Wajid M, Shimomura Y, Christiano A M

Abstract excerpt

BACKGROUND: Woolly hair (WH) belongs to a family of disorders characterized by hair shaft anomalies that clinically presents with tightly curled hair, which can be divided into syndromic and non-syndromic forms of WH. We have recently identified mutations in both LPAR6/P2RY5 and LIPH that are associated with autosomal recessive woolly hair (ARWH). OBJECTIVE: To study the underlying genetic causes of autosomal...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 22385360
DOI: 10.1111/j.1468-3083.2012.04472.x
PMCID: PMC4296312

Genes

LPAR6
LIPH

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

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Mutations in LPAR6/P2RY5 and LIPH are associated with woolly hair and/or hypotrichosis.PMID 22385360Read ↗

Mutations in the LPAR6 and LIPH genes underlie autosomal recessive hypotrichosis/woolly hair in 17 consanguineous families from Pakistan.Semantic proximity Read ↗

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

Novel sequence variants in the LIPH and LPAR6 genes underlies autosomal recessive woolly hair/hypotrichosis in consanguineous families.Semantic proximity Read ↗

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

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

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

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Isolated autosomal recessive woolly hair/hypotrichosis: genetics, pathogenesis and therapies.Semantic proximity Read ↗

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

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