26 citations
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October 1998 in “Experimental Dermatology” This study describes a co-dominant E410D mutation in keratin hHb6 associated with severe hair loss and extensive papules in homozygous individuals, with variable expression in heterozygous family members.
3 citations
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February 2011 in “Journal of Biomedical Research/Journal of biomedical research” This study identified a novel mutation, R430Q in the KRT86 gene, in a Han family with monilethrix, which may contribute to the disease's pathogenic mechanism.
20 citations
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December 1999 in “Journal of Investigative Dermatology” Mutations in the hHb6 gene cause the hair disorder monilethrix.
2 citations
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November 2022 in “Skin research and technology” This study found that the p.E402K mutation in the KRT86 gene is a hotspot in Chinese patients with monilethrix, and treatment with 5% topical minoxidil significantly improved hair density and quality.
318 citations
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January 2022 in “Signal Transduction and Targeted Therapy” This study systematically reviews the Wnt/β-catenin signaling pathway, discussing its origin, composition, function, involvement in tumors and diseases, and the development of small-molecular compounds targeting this pathway for disease treatment.