ArticleScientific reports2012
A novel mutation in the Lipase H gene underlies autosomal recessive hypotrichosis and woolly hair.
Article in Scientific reports, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 12 citations in OpenAlex.
- Autosomal recessive woolly hair/hypotrichosis with homozygous mutation in theDermatology reports · 2026Article
- Diagnosis and treatment of isolated autosomal recessive woolly hair/hypotrichosis.Frontiers in medicine · 2025Review
- The history of Coast Salish "woolly dogs" revealed by ancient genomics and Indigenous Knowledge.Science (New York, N.Y.) · 2023Article
- Lipase member H is a novel secreted protein associated with a poor prognosis for breast cancer patients.Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine · 2014Article
- A splice variant in KRT71 is associated with curly coat phenotype of Selkirk Rex cats.Scientific reports · 2013Article
- To the Root of the Curl: A Signature of a Recent Selective Sweep Identifies a Mutation That Defines the Cornish Rex Cat Breed.PloS one · 2013Article
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Authors and funding
5 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mutations in the lipase member H (LIPH) gene cause autosomal recessive hypotrichosis with woolly hair. We report herein on five consanguineous families from Pakistan segregating hypotrichosis and woolly hair. Genetic investigation using polymorphic microsatellite markers revealed homozygosity for a region spanning the HYPT7 locus on chromosome 3 in affected individuals of all five families. Sequence analysis of the LIPH gene revealed a novel nonsense mutation (p.Arg260X) associated with hypotrichosis without woolly hair in one family. In the remaining four families we identified previously described mutations in a homozygous state in affected members. These findings extend the spectrum of known LIPH mutations in the Pakistani population.
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