September 2013 in “Helda (University of Helsinki)” This study explored the genetics of inherited developmental defects in dogs and identified novel mutations affecting traits like caudal dysplasia, ectodermal dysplasia, and mucopolysaccharidosis VII, suggesting dogs as models to study human diseases.
8 citations
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December 2016 in “Hormone Research in Paediatrics” This study reported a series of eight children with hereditary vitamin D-resistant rickets in Tunisia, identifying both common and novel mutations in the vitamin D receptor gene, and noting significant improvement with intravenous calcium treatment in most patients.
April 2023 in “Journal of Investigative Dermatology” This study found that sebaceous glands can regenerate after PPARg deletion in adult skin, relying on the hair cycle and FGFR signaling.
February 1989 in “PubMed” This study found a genetic electrophoretic variant in high-sulfur proteins from human hair, which was more prevalent in the Japanese samples compared to Caucasian samples, suggesting an autosomal inheritance pattern.
20 citations
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January 2017 in “Genetica” This study suggests that the methylation degree of HOXC8 exon 1 in the hair follicle may influence cashmere fiber growth in Liaoning cashmere goats.