98 citations
,
June 2001 in “Journal of biological chemistry/The Journal of biological chemistry” A cluster of sulfur-rich hair protein genes was found on chromosome 17.
August 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” Normal cells outcompete and remove mutant cells in the pancreas with the help of the EphA2 receptor.
38 citations
,
February 1988 in “Molecular and Cellular Biology” Only one of the two K16 genes on chromosome 17 makes a functional protein for keratin filaments.
September 2017 in “Journal of Investigative Dermatology” LRIG1 protein affects hair growth by regulating skin receptors, leading to hair loss when overexpressed.
4 citations
,
December 2013 in “The Journal of Dermatology” A new mutation in the K6b gene caused a girl's late-appearing nail condition.
93 citations
,
July 2006 in “Journal of Investigative Dermatology” K25, K27, and K28 are found in all inner root sheath layers of hair, while K26 is only in the cuticle.
6 citations
,
April 2005 in “Journal of dermatological science” The study found nine new hair protein genes in human hair follicles.
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.
November 2024 in “Journal of Investigative Dermatology” ATP-sensitive potassium channels are important for hair growth.
87 citations
,
September 2012 in “Journal of Cell Science” Keratins are crucial for tissue strength, and mutations in keratin genes can lead to various diseases, highlighting the need for targeted therapies.
March 2026 in “Adipocyte” Spt4 and Spt6 are essential for fat cell development.
15 citations
,
June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” Mice with extra human KLK14 had hair and skin problems, including weaker cell bonds and inflammation, linked to Netherton syndrome.
61 citations
,
September 1994 in “Journal of Medical Genetics” Pachyonychia congenita is linked to a keratin gene on chromosome 17.
May 2025 in “Proceedings of the National Academy of Sciences” UTX is crucial for skin differentiation and health, especially in females.
1 citations
,
April 2010 in “Digital WPI” CLK1 is needed for skin cells to become epidermal cells but not sebocytes.
52 citations
,
July 2011 in “PubMed” TRPS1 is crucial for bone, kidney, and hair follicle development.
November 2025 in “Journal of Investigative Dermatology” TEDAR is crucial for skin cell differentiation and barrier formation.
84 citations
,
May 2008 in “Biological Chemistry” Human tissue kallikreins help regulate skin barrier functions and affect skin health.
1 citations
,
February 2021 in “Animal biotechnology” Certain changes in the KAP6-1 gene affect the thickness and length of cashmere goat fibers.
42 citations
,
September 2003 in “Journal of Investigative Dermatology” A missing mK6irs1 gene causes hair loss in mice.
11 citations
,
July 2010 in “European Journal of Dermatology” The condition is linked to chromosome 12, but no mutations were found in the known genes.
1 citations
,
August 2024 in “Animals” KRT85 gene variations can help improve wool traits in sheep through selective breeding.
January 2004 in “uO Research (University of Ottawa)” Claudin 6 is crucial for normal skin and hair development.
1 citations
,
January 2023 in “Biochemical and biophysical research communications” Keratin 79 is linked to liver damage and may help diagnose liver diseases.
1 citations
,
December 2018 in “Journal of genetic medicine” A small change in the TRPS1 gene leads to a less severe form of a syndrome affecting hair, nose, and finger development.
January 2017 in “Journal of Chemical Biological and Physical Sciences” Human hair keratin genes have unique simple sequence repeats that may help track genetic variations.
The KRTAP36-2 gene in sheep affects wool yield.
27 citations
,
June 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” The study found that variations in hair protein genes are likely due to evolutionary deletions or duplications.
53 citations
,
September 1999 in “The journal of cell biology/The Journal of cell biology” K16 can partially replace K14 but causes hair loss and skin issues.
29 citations
,
February 2001 in “Proceedings of the National Academy of Sciences” A specific DNA region controls skin cell gene expression by working with certain proteins.