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

Prevalent LIPH founder mutations lead to loss of P2Y5 activation ability of PA-PLA1alpha in autosomal recessive hypotrichosis.

Human mutation - 1 May 2010

Shinkuma Satoru, Akiyama Masashi, Inoue Asuka, Aoki Junken, Natsuga Ken, Nomura Toshifumi, Arita Ken, Abe Riichiro, Ito Kei, Nakamura Hideki, Ujiie Hideyuki, Shibaki Akihiko, Suga Hiraku, Tsunemi Yuichiro, Nishie Wataru, Shimizu Hiroshi

Abstract excerpt

Autosomal recessive hypotrichosis (ARH) is characterized by sparse hair on the scalp without other abnormalities. Three genes, DSG4, LIPH, and LPAR6 (P2RY5), have been reported to underlie ARH. We performed a mutation search for the three candidate genes in five independent Japanese ARH families...

Read the complete abstract on PubMed

Topics

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

Share to Cell Line
Share to Genes, Recessive

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Haplotypes

Share to Hypotrichosis

Share to Linkage Disequilibrium

Share to Lipase

Share to Prevalence

Share to Receptors, Purinergic P2

Source

Identifiers

PMID: 20213768
DOI: 10.1002/humu.21235

Genes

LIPH
DSG4
LPAR6

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-20213768-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Prevalent LIPH founder mutations lead to loss of P2Y5 activation ability of PA-PLA1alpha in autosomal recessive hypotrichosis.PMID 20213768Read ↗

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

Identification of 736T>A mutation of lipase H in Japanese siblings with autosomal recessive woolly hair.Semantic proximity Read ↗

Expression studies of a novel splice site mutation in the LIPH gene 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 ↗

Highly prevalent LIPH founder mutations causing autosomal recessive woolly hair/hypotrichosis in Japan and the genotype/phenotype correlations.Semantic proximity Read ↗

A mutation in the lipase H (LIPH) gene underlie autosomal recessive hypotrichosis.Semantic proximity Read ↗

Prevalent founder mutation c.736T>A of LIPH in autosomal recessive woolly hair of Japanese leads to variable severity of hypotrichosis in adulthood.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 ↗

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

Frameshift Sequence Variants in the Human Lipase-H Gene Causing Hypotrichosis.Semantic proximity Read ↗

A novel deletion mutation in the phospholipase H (LIPH) gene in a consanguineous Pakistani family with autosomal recessive hypotrichosis (LAH2).Semantic proximity Read ↗

Founder mutations in the lipase h gene in families with autosomal recessive woolly hair/hypotrichosis.Semantic proximity Read ↗

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