research Recurrent Missense Mutations in the Hair Keratin Gene HHb6 in Monilethrix
Mutations in the hHb6 gene cause the hair disorder monilethrix.
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research Detection of a Novel Missense Mutation in Atrichia with Papular Lesions
Researchers found a new mutation in the HR gene linked to a rare hair loss condition.
research Two Novel MBTPS2 Missense Mutations Impairing S2P Proteolytic Activity Lead to IFAP Syndrome With New Phenotypic Anomalies
New mutations in MBTPS2 reduce its function and cause IFAP syndrome with unusual symptoms.
research Functional Analyses of a Novel Missense and Other Mutations of the Vitamin D Receptor in Association with Alopecia
A single amino acid change in the vitamin D receptor can disrupt its function and lead to hair loss.
research Loss-Of-Function Mutations of an Inhibitory Upstream ORF in the Human Hairless Transcript Cause Marie Unna Hereditary Hypotrichosis
Certain mutations in a hair growth-related gene cause a type of genetic hair loss.
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