research Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2 175 citations , September 1998 in “British Journal of Dermatology” Keratin 17 gene mutations cause both steatocystoma multiplex and pachyonychia congenita type 2.
research Pachyonychia congenita: Sporadic onset with mutation analysis January 2023 in “Indian dermatology online journal” A boy with Pachyonychia congenita has a confirmed gene mutation, highlighting the need for a local genetic database in India.
research Exploiting the Keratin 17 Gene Promoter To Visualize Live Cells in Epithelial Appendages of Mice 58 citations , July 2005 in “Molecular and Cellular Biology” A specific gene segment can make mouse skin cells glow, helping study hair growth and gene effects.
research The in vitro Assembly of Hair Follicle Keratins: Comparison of Cortex and Companion Layer Keratins 13 citations , January 2002 in “Biological chemistry” Different conditions affect how hair proteins assemble, and certain mutations can change their structure.
research Homozygous Dominant Missense Mutation in Keratin 17 Leads to Alopecia in Addition to Severe Pachyonychia Congenita 22 citations , February 2012 in “Journal of Investigative Dermatology” A specific gene mutation causes severe skin and nail issues and hair loss.