10 citations
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January 2001 in “Bioscience Biotechnology and Biochemistry” This study found that partial protein extraction from keratinized tissues, such as hair and nails, reveals protein patterns distinct from whole protein extracts, including the presence of ubiquitin.
May 2024 in “JCI insight” In this study, researchers discovered a dominant variant in the ADAM17 gene that causes hypotrichosis with woolly hair, where the mutation leads to hair follicle stem cell exhaustion and abnormal hair follicles, resulting in alopecia.
31 citations
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October 2016 in “PLoS ONE” This study suggests that UMPP activation is a key signaling pathway in differentiating primary and secondary hair follicles in cashmere goats.
April 2017 in “Journal of Investigative Dermatology” This study identified that dominant mutations in the KLHL24 gene cause epidermolysis bullosa through dysregulated autoubiquitination, leading to excessive degradation of keratin 14.
In this study, researchers explored ubiquitination patterns in healthy human skin and CYLD cutaneous syndrome tumors, identifying extensive ubiquitin sites and differential protein ubiquitination linked to tumor pathology, highlighting the role of ubiquitination in tissue architecture and disease mechanisms.