research Functional analyses of a novel missense and other mutations of the vitamin D receptor in association with alopecia 20 citations , July 2017 in “Scientific Reports” A single amino acid change in the vitamin D receptor can disrupt its function and lead to hair loss.
research Mutant laboratory mice with abnormalities in hair follicle morphogenesis, cycling, and/or structure: An update 52 citations , October 2012 in “Journal of Dermatological Science” The document concludes that mouse models are crucial for studying hair biology and that all mutant mice may have hair growth abnormalities that require detailed analysis to identify.
research Non-canonical dimerization of the androgen receptor and other nuclear receptors: implications for human disease 25 citations , June 2019 in “Endocrine Related Cancer” Mutations in certain receptors can cause diseases and offer new treatment options.
research Cutaneous adverse effects of targeted therapies 192 citations , January 2015 in “Journal of the American Academy of Dermatology” Targeted cancer therapies often cause serious skin problems that need careful management.
research 461 Identification of a Novel Pathogenic XPC:c.2420+1G>C Variant in a Patient with Xeroderma Pigmentosum November 2025 in “Journal of Investigative Dermatology” A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.