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Article

Expression studies of a novel splice site mutation in the LIPH gene identified in a Japanese patient with autosomal recessive woolly hair.

The Journal of dermatology - 1 Oct 2014

Hayashi Ryota, Inui Shigeki, Farooq Muhammad, Ito Masaaki, Shimomura Yutaka

Abstract excerpt

Autosomal recessive woolly hair (ARWH) is characterized by short and tightly curled scalp hair without any obvious complications. The disease is known to be caused by either lipase H (LIPH) or LPAR6 genes. Proteins encoded by these two genes are closely related to each other in a lipid-signaling pathway that is believed to play crucial roles in hair follicle development and hair growth. In the Japanese...

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Source

Identifiers

PMID: 25271093
DOI: 10.1111/1346-8138.12623

Genes

LIPH
LPAR6

Variants

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.

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Expression studies of a novel splice site mutation in the LIPH gene identified in a Japanese patient with autosomal recessive woolly hair.PMID 25271093Read ↗

Identification of a novel splice site mutation in the LIPH gene in a Japanese family with autosomal recessive woolly hair.Semantic proximity Read ↗

Novel splice site mutation in LIPH identified in a Japanese patient with autosomal recessive woolly hair.Semantic proximity Read ↗

Analysis of unique mutations in the LPAR6 gene identified in a Japanese family with autosomal recessive woolly hair/hypotrichosis: Establishment of a useful assay system for LPA6.Semantic proximity Read ↗

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