The β9 Loop Domain of PA-PLA1α Has a Crucial Role in Autosomal Recessive Woolly Hair/Hypotrichosis

April 2012 in “ Journal of Investigative Dermatology ”

Satoru Shinkuma, Asuka Inoue, Junken Aoki, Wataru Nishie, Ken Natsuga, Hideyuki Ujiie, Toshifumi Nomura, Riichiro Abe, Masashi Akiyama, Hiroshi Shimizu

PA-PLA1α autosomal recessive woolly hair hypotrichosis LPA6 β9-loop domain missense mutation enzyme hydrolytic activity woolly hair hair growth

Studysummary A specific mutation in PA-PLA1α causes abnormal hair growth.

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research LPA-Producing Enzyme PA-PLA1α Regulates Hair Follicle Development by Modulating EGFR Signaling

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The enzyme PA-PLA1α is important for proper hair follicle development.

research Disruption of P2RY5, an Orphan G Protein–Coupled Receptor, Underlies Autosomal Recessive Woolly Hair

210 citations , February 2008 in “Nature genetics”

This study found mutations in the P2RY5 gene that are linked to autosomal recessive woolly hair in Pakistani families, implicating it in hair texture determination.

research Human Hair Growth Deficiency Is Linked to a Genetic Defect in the Phospholipase Gene LIPH

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This study identified a gene mutation in the LIPH gene associated with inherited hair loss and hair growth defects in certain populations, suggesting lipase H plays a role in hair development.