ArticleHuman genetics2007
A mutation in the lipase H (LIPH) gene underlie autosomal recessive hypotrichosis.
Article in Human genetics, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 70 citations in OpenAlex.
- Diagnosis and treatment of isolated autosomal recessive woolly hair/hypotrichosis.Frontiers in medicine · 2025Review
- Autosomal Recessive Woolly Hair Caused byClinical, cosmetic and investigational dermatology · 2025Article
- Association of AHSG with alopecia and mental retardation (APMR) syndrome.Human genetics · 2017Article
- Genetic dissection of two Pakistani families with consanguineous localized autosomal recessive hypotrichosis (LAH).Iranian journal of basic medical sciences · 2014Article
- Article
- Enpp2/Autotaxin in dermal papilla precursors is dispensable for hair follicle morphogenesis.The Journal of investigative dermatology · 2013Article
- Sequence and expression of the chicken membrane-associated phospholipases A1 alpha (LIPH) and beta (LIPI).Molecular biology reports · 2012Article
- Article
- A novel mutation in the Lipase H gene underlies autosomal recessive hypotrichosis and woolly hair.Scientific reports · 2012Article
- The heterotrimeric G protein subunits Gα(q) and Gβ(1) have lysophospholipase D activity.The Biochemical journal · 2011Article
- A deletion in exon 9 of the LIPH gene is responsible for the rex hair coat phenotype in rabbits (Oryctolagus cuniculus).PloS one · 2011Article
- Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families.Human genetics · 2011Article
- Genetic mapping of a novel hypotrichosis locus to chromosome 7p21.3-p22.3 in a Pakistani family and screening of the candidate genes.Human genetics · 2010Article
- Mapping of a novel autosomal recessive hypotrichosis locus on chromosome 10q11.23–22.3.Human genetics · 2010Article
- Mutations in the LIPH gene in three Japanese families with autosomal recessive woolly hair/hypotrichosis.Journal of dermatological science · 2009Article
- Founder mutations in the lipase h gene in families with autosomal recessive woolly hair/hypotrichosis.The Journal of investigative dermatology · 2009Article
- Identification and characterization of a novel lysophosphatidic acid receptor, p2y5/LPA6.The Journal of biological chemistry · 2009Article
- Autosomal recessive woolly hair with hypotrichosis caused by a novel homozygous mutation in the P2RY5 gene.Experimental dermatology · 2009Article
- Novel mutations in G protein-coupled receptor gene (P2RY5) in families with autosomal recessive hypotrichosis (LAH3).Human genetics · 2008Article
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hereditary hypotrichosis is a rare autosomal recessive disorder characterized by sparse hair on scalp and rest of the body of affected individuals. Two forms of such hypotrichosis LAH and AH have been mapped on chromosome 18q12.1 and 3q27, respectively. Mutations in desmogelin 4 (DSG4) gene have been reported to underlie LAH. Recently, a deletion mutation in Lipase H (LIPH) gene, located at AH locus, has been identified in two ethnic groups of Russian population. In the present study, a four generation Pakistani family with AH phenotype has been mapped to chromosome 3q27. Sequence analysis of candidate gene LIPH revealed a novel five base pair deletion mutation (c.346-350delATATA) in exon 2 of the gene leading to frameshift and downstream premature termination codon. The mutation reported in the family, presented here, is the second mutation identified in LIPH gene. The identification of a genetic defect in LIPH suggests that this enzyme regulates hair growth.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.