119 citations
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November 2016 in “American journal of human genetics” This study reports the discovery of mutations in the PADI3, TGM3, and TCHH genes as molecular genetic causes of uncombable hair syndrome in children, indicating an autosomal-recessive inheritance pattern.
67 citations
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December 1990 in “The journal of cell biology/The Journal of cell biology” This study identified two evolutionarily conserved ultra-high-sulfur keratin proteins in human and sheep hair follicles, which are specifically expressed in the hair cuticle during the late stages of fiber development.
53 citations
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June 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” This article reviews extensive genetic polymorphisms in the keratin-associated proteins of human hair, indicating complexity but reporting no new clinical results and calls for further research on their potential impact on hair structure.
27 citations
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April 2004 in “Biochemical and Biophysical Research Communications” In this study, two novel clusters of keratin-associated protein genes on human chromosome 11 were analyzed, suggesting their products are crucial for hair formation due to preferential expression in hair roots.
15 citations
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January 1988 Hair follicles have unique proteins that vary by species and are influenced by nutrition.