24 citations
,
July 2014 in “Journal of Investigative Dermatology” This study reports that a widespread founder SERPINB7 mutation underlies Nagashima-type palmoplantar keratosis, which is a common form of palmoplantar keratosis in Asian populations.
65 citations
,
September 2014 in “BMC genomics” This research found that variations in the KRTAP gene family are likely responsible for the diverse hair phenotypes seen among mammals, influenced by gene repertoire differences, expression, and evolutionary factors.
62 citations
,
January 2004 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified 16 novel high sulfur KAP genes and two KAP pseudogenes on chromosome 21q23, showing expression in a specific region of the hair fiber cuticle.
38 citations
,
October 2011 in “Analytical biochemistry” This study used proteomic techniques to analyze human hair proteins, revealing keratin heterogeneity and identifying posttranslational modifications, such as cysteine trioxidation and methylation.
16 citations
,
January 2018 in “Advances in experimental medicine and biology” This review discusses the diversity of keratins and keratin-associated proteins in wool and hair, noting significant variation in their families, with no new results reported; the authors detail known protein structures without experimental findings.