May 2015 in “Journal of Dermatological Science” Researchers found a new area on chromosome 2 linked to a genetic hair loss condition.
6 citations
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September 2015 in “Journal of Medicinal Chemistry” This study synthesized and verified the structures of Setipiprant's major and minor metabolites, confirming their regio- and enantioselectivity from earlier proposals in a clinical study.
19 citations
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July 2020 in “EBioMedicine” In this study, the researchers identified a variant in the CCHCR1 gene associated with an alopecia areata subtype characterized by impaired keratinization and autoimmune events.
20 citations
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August 2003 in “Clinical and Experimental Dermatology” In this study, a novel E583V missense mutation in the hairless gene was identified in an Italian family with atrichia with papular lesions, reinforcing the significance of zinc-finger and LXXLL domains in this condition.
December 2022 in “American journal of medical genetics. Part A” This case report describes an instance of autosomal recessive uncombable hair syndrome caused by maternal uniparental disomy of chromosome 1.