June 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” KIF18B is important for correctly positioning cell division machinery in skin cells, affecting hair follicle development.
100 citations
,
December 2002 in “Journal of biological chemistry/The Journal of biological chemistry” Researchers mapped and categorized specific keratin-associated protein genes on human chromosome 21q22.1.
1 citations
,
March 2023 in “Frontiers in Cardiovascular Medicine” A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
June 2024 in “British Journal of Dermatology” KRT14 gene variants cause dermatopathia pigmentosa reticularis, affecting nails, teeth, and hair.
February 2025 in “bioRxiv (Cold Spring Harbor Laboratory)” Keratin 15 helps keep skin cells in a young, undifferentiated state.
3 citations
,
July 2021 in “Life science alliance” PNKP is essential for keeping adult mouse progenitor cells healthy and growing normally.
22 citations
,
August 1999 in “Mechanisms of Development” Pmg-1 and Pmg-2 are new genes important for skin and mammary gland development.
14 citations
,
August 2014 in “The FASEB Journal” CAP1/Prss8 does not activate PAR2 or inhibit PN-1.
October 2021 in “Journal of Investigative Dermatology” Blocking IL-12 can help treat alopecia areata by preventing hair follicle immune issues.
22 citations
,
December 2015 in “The journal of investigative dermatology/Journal of investigative dermatology” A mouse gene mutation increases the risk of skin cancer.
245 citations
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January 1998 in “Genes & Development” Hoxc13 gene is essential for hair, nail, and papilla development.
December 2025 in “The Journal of Cell Biology” Keratin 15 helps maintain skin cell growth and repair.
32 citations
,
January 2020 in “Journal of Molecular Histology” K31 can identify clear secretory cells in human sweat glands.
13 citations
,
July 1994 in “PubMed” Keratins K6 and K16 are expressed more freely in regenerating mouse skin than K1 and K10.
16 citations
,
June 2015 in “The journal of investigative dermatology/Journal of investigative dermatology” The enzyme DHHC13 is essential for healthy hair and skin, and its deficiency leads to hair loss and skin problems.
32 citations
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November 1998 in “Journal of Biological Chemistry” Mouse and human keratin 16 can both form filaments, with differences likely due to the tail domain, not the helical domain.
61 citations
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September 1994 in “Journal of Medical Genetics” Pachyonychia congenita is linked to a keratin gene on chromosome 17.
114 citations
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May 2001 in “Development” Overexpression of Hoxc13 in hair cells causes hair loss and skin issues.
April 1996 in “Journal of Dermatological Science” 4 citations
,
May 1998 in “PubMed” The Bsk mutation doesn't involve keratin gene recombination and its cause is unknown.
76 citations
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February 1993 in “Journal of Biological Chemistry” KAP6 genes are conserved across species and active in hair follicles.
4 citations
,
January 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A faulty KLHL24 gene leads to hair loss by damaging hair follicle stem cells.
April 2018 in “Journal of Investigative Dermatology”
11 citations
,
September 2011 in “British Journal of Dermatology” New ABCA12 gene mutations were linked to a skin condition with scaling and hair loss, and a treatment helped with hair loss in a related case.
28 citations
,
January 2015 in “Journal of Cell Science” PINCH-1 is crucial for skin cell adhesion and movement, working with EPLIN and ILK.
94 citations
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October 1994 in “The Journal of Cell Biology” Too much keratin 16 in mice skin causes abnormal skin thickening and structure.
8 citations
,
September 2020 in “Genes & Genomics” 30 citations
,
January 2013 in “Human Mutation” A mutation in the HOXC13 gene causes hair and nail problems in a Syrian family.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” p120-catenin helps control skin inflammation by regulating cadherin levels.