ArticleHuman genetics2008
Novel mutations in G protein-coupled receptor gene (P2RY5) in families with autosomal recessive hypotrichosis (LAH3).
Article in Human genetics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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15 citing papers in PubMed, 49 citations in OpenAlex.
- Investigating the role of keratin proteins and microbial associations in hereditary and pathogenic alopecia.Archives of dermatological research · 2024Article
- Autotaxin⁻Lysophosphatidic Acid Signaling in Alzheimer's Disease.International journal of molecular sciences · 2018Review
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- Promising pharmacological directions in the world of lysophosphatidic Acid signaling.Biomolecules & therapeutics · 2015Review
- Genetic dissection of two Pakistani families with consanguineous localized autosomal recessive hypotrichosis (LAH).Iranian journal of basic medical sciences · 2014Article
- In silico analysis of missense mutations in LPAR6 reveals abnormal phospholipid signaling pathway leading to hypotrichosis.PloS one · 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
- 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
- Amino acid residues critical for endoplasmic reticulum export and trafficking of platelet-activating factor receptor.The Journal of biological chemistry · 2010Article
- A homozygous nonsense mutation in the human desmocollin-3 (DSC3) gene underlies hereditary hypotrichosis and recurrent skin vesicles.American journal of human genetics · 2009Article
- Identification and characterization of a novel lysophosphatidic acid receptor, p2y5/LPA6.The Journal of biological chemistry · 2009Article
- Molecular genetics of bladder cancer: Emerging mechanisms of tumor initiation and progression.Urologic oncologyReview
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Authors and funding
13 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Autosomal recessive hypotrichosis (LAH3) is a rare hair disorder characterized by sparse hair on scalp and the rest of the body of affected individuals. Recently mutations in a G protein-coupled receptor gene, P2RY5, located at LAH3 locus, have been reported in several families with autosomal recessive hypotrichosis simplex and woolly hair. For the present study, 22 Pakistani families with autosomal recessive hypotrichosis were enrolled. Genotyping using microsatellite markers linked to three autosomal recessive forms of hypotrichosis (LAH1, LAH2, LAH3) showed the linkage of 2 families to the LAH2 locus and 14 to the LAH3 locus. The remaining 6 families were not linked to any of the three loci. Families linked to LAH3 locus were further subjected to screening of the P2RY5 gene with direct DNA sequencing. Three previously reported variants, c.69insCATG (p.24insHfs52), c.188A > T (p.D63V) and c.565G > A (p.E189K) were observed in eight families. Four novel nonsynonymous sequence variants, c.8G > C (p.S3T), c.36insA (p.D13RfsX16), c.160insA (p.N54TfsX58) and c.436G > A (p.G146R) were found to segregate within six families.
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