research A missense mutation in the type II hair keratin hHb3 is associated with monilethrix
This study identified a novel heterozygous missense mutation in the hHb3 gene associated with monilethrix, highlighting its role in this hair disorder.
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5 / 50 resultsresearch Sequences and differential expression of three novel human type-II hair keratins
Hair differentiation starts earlier than thought, involving multiple type-II keratins.
research De novo mutations in monilethrix
In this study, researchers identified two de novo germline missense mutations in the hair keratins hHb1 and hHb6 in patients with monilethrix whose parents were not clinically affected.
research A cDNA encoding the human type I hair keratin hHa1
hHb1, hHb3, and hHb6 mRNAs start expressing at the same time in hair follicles.
research The Catalog of Human Hair Keratins
This study cataloged human type II hair keratins, detailing their expression and differentiation roles in hair follicles and comparing them with type I keratins to explore keratin-pairing principles.
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