ArticleThe Journal of investigative dermatology2009
Founder mutations in the lipase h gene in families with autosomal recessive woolly hair/hypotrichosis.
Article in The Journal of investigative dermatology, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 34 citations in OpenAlex.
- Diagnosis and treatment of isolated autosomal recessive woolly hair/hypotrichosis.Frontiers in medicine · 2025Review
- Complete defect in PA-PLAFrontiers in genetics · 2025Article
- Unusual Clinical Presentation of Autosomal Recessive Woolly Hair.Skin appendage disorders · 2020Article
- Cytogenomic identification and long-read single molecule real-time (SMRT) sequencing of aNPJ genomic medicine · 2018Article
- Human hair shaft proteomic profiling: individual differences, site specificity and cuticle analysis.PeerJ · 2014Article
- A case of autosomal recessive woolly hair/hypotrichosis with alternation in severity: deterioration and improvement with age.Case reports in dermatology · 2013Article
- Localization of hair shaft protein VSIG8 in the hair follicle, nail unit, and oral cavity.The Journal of investigative dermatology · 2011Article
- Autosomal recessive hypotrichosis simplex with woolly hair: a report of a new family.Dermatology reports · 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
- Proteomic analysis of human nail plate.Journal of proteome research · 2010Article
- Aiming drug discovery at lysophosphatidic acid targets.British journal of pharmacology · 2010Review
- Mutations in the LIPH gene in three Japanese families with autosomal recessive woolly hair/hypotrichosis.Journal of dermatological science · 2009Article
- Distinguishing mouse strains by proteomic analysis of pelage hair.The Journal of investigative dermatology · 2009Article
- Proteomic analysis of hair shaft and nail plate.Journal of cosmetic scienceArticle
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 2 countries.
Funding
Abstract
Autosomal-recessive woolly hair (ARWH)/hypotrichosis is a hereditary hair disorder which is characterized by tightly curled hair and is associated with sparse hair. ARWH can be caused by mutations in the P2RY5 or lipase H (LIPH) gene. Disruption of either gene results in phenotypes with features of both wooly hair (WH) and hypotrichosis. In this study, we identified two Guyanese families with ARWH. Both families are of recent Indian descent. Mutation analysis resulted in the identification of mutations in the LIPH gene in both families. Affected individuals in the first family carry compound heterozygous mutations Ex7_8del and 1303_1309dupGAAAACG in the LIPH gene, while those in the second family have a homozygous mutation 659_660delTA in the LIPH gene. The mutations Ex7_8del and 659_660delTA were identified earlier in several Pakistani families with ARWH. Haplotype analysis using microsatellite markers close to the LIPH gene defined a founder haplotype shared in families from Pakistan and Guyana. Proteomic analysis of hair shaft samples from one of the families revealed no substantial changes among the proteins identified, indicating that the syndrome does not involve global alterations in protein expression. Our results further suggest a crucial role of LIPH gene in hair growth.
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