TLDR Krt16-deficient mice help understand skin disorders like PC and FNEPPK.
Researchers Lessard and Coulombe developed a Krt16-deficient mouse model to study palmoplantar keratoderma, a key feature of pachyonychia congenita (PC) and focal non-epidermolytic palmoplantar keratoderma (FNEPPK). These mice exhibited reduced birth weight, high early postnatal mortality due to hyperplastic tongue lesions, and developed painful calluses on their paws, mirroring human symptoms. The study suggested that both mutant and absent KRT16 proteins lead to similar palmoplantar lesions, highlighting the importance of KRT16 in skin structure and function. However, the Krt16-null mice did not show other PC characteristics like nail dystrophy, indicating different underlying mechanisms for various symptoms.
185 citations
,
December 2010 in “Archives of Biochemistry and Biophysics” Keratin gene mutations cause various skin and hair disorders, but new research offers hope for future treatments.
438 citations
,
October 2010 in “Oncogene” Keratins help protect cells, aid in cancer diagnosis, and influence cancer behavior and treatment.
46 citations
,
September 2007 in “Journal of Investigative Dermatology” 
122 citations
,
June 2002 in “Genes & Development” Keratin 17 is crucial for early hair strength and cell survival.
101 citations
,
August 2001 in “The Journal of Cell Biology” A new keratin 6 type in mice explains why some mice without certain keratin genes still have normal hair and nails.
68 citations
,
April 2012 in “Journal of Investigative Dermatology” The conclusion is that Fgf18 and Tgf-ß signaling could be targeted for hair loss treatments.
1 citations
,
July 2021 in “IntechOpen eBooks” Environmental factors can cause mutations in skin proteins, leading to skin disorders.
21 citations
,
January 2018 in “PLoS Genetics” Certain genetic variants in keratins increase the risk of tooth decay.
5 citations
,
July 2022 in “Orphanet journal of rare diseases” RSPO1 mutations in certain patients lead to skin cells that don't develop properly and are more likely to become invasive, increasing the risk of skin cancer.
3 citations
,
June 2022 in “European journal of human genetics” A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
