November 2025 in “Journal of Investigative Dermatology” TEDAR is crucial for skin cell differentiation and barrier formation.
75 citations
,
October 2010 in “Mammalian genome” Sphynx cats are hairless and Devon Rex cats have curly hair due to specific genetic mutations.
4 citations
,
July 2012 in “Genesis” The Megsin-Cre transgene is a new tool for genetic manipulation in the skin and upper digestive tract.
15 citations
,
April 2011 in “Biological Chemistry” Cathepsin E is crucial for normal skin cell differentiation and development.
The trichohyalin gene is located at chromosomal region 1q21 with other skin-related protein genes.
19 citations
,
May 2001 in “Endocrinology” Mrp3 may aid in wound healing and hair growth.
9 citations
,
February 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” The document concludes that the human keratin gene cluster is complex, with a need for updated naming to reflect over 50 functional genes important for hair and skin biology.
April 2026 in “Cellular and Molecular Immunology” SPT6 prevents excessive skin inflammation by blocking a feedback loop.
21 citations
,
January 2018 in “PLoS Genetics” Certain genetic variants in keratins increase the risk of tooth decay.
January 1999 in “American Journal of Medical Genetics Part A” The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.
44 citations
,
August 1990 in “PubMed” Keratins K1 and K10 are found in the inner root sheath and cuticle of human hair follicles.
11 citations
,
June 2017 in “Journal of cell science” AGD1's PH domain is essential for its role in root hair growth and polarity.
13 citations
,
July 2016 in “Indian Journal of Dermatology” DPR can show different hair characteristics, as seen in two brothers with normal hair.
21 citations
,
December 2006 in “Archives of dermatology” A kidney transplant patient developed pink skin bumps with spiny centers on her face and limbs.
19 citations
,
April 2024 in “Nature Cell Biology” 14 citations
,
November 2024 in “International Journal of Molecular Sciences” YAP and TAZ proteins control skin cell growth and repair.
3 citations
,
December 2014 in “Annals of Laboratory Medicine” A Korean baby with nevus sebaceus syndrome was found to have a KRAS gene mutation.
July 2024 in “Journal of Investigative Dermatology” ATR04-484 ointment shows promise for treating skin issues from cancer therapies.
July 2022 in “Journal of Investigative Dermatology” A specific mutation in Kras causes abnormal tissue changes by making a cell signal continuously active, which disrupts normal cell coordination.
28 citations
,
March 1993 in “Journal of Cell Science” Keratins K4 and K13 form stable dimers in mature esophageal cells, aiding cell stability.
99 citations
,
July 2012 in “PLoS Genetics” A mutation in the KRT75 gene causes frizzle feathers in chickens.
April 2024 in “Anais Brasileiros de Dermatologia”
5 citations
,
September 2013 in “The Journal of Dermatology” Researchers found a new mutation in the HR gene causing hair loss and skin bumps in a Pakistani family.
2 citations
,
May 2022 in “International journal of molecular sciences” Changes in KRT17 gene activity linked to wool production in Angora rabbits.
175 citations
,
September 1998 in “British Journal of Dermatology” Keratin 17 gene mutations cause both steatocystoma multiplex and pachyonychia congenita type 2.
14 citations
,
September 1999 in “Journal of Investigative Dermatology” Lack of TrkC receptor delays hair follicle development.
52 citations
,
February 2012 in “PloS one” Lack of Ctip2 in skin cells delays wound healing and disrupts hair follicle stem cell markers in mice.
40 citations
,
December 2010 in “Human Genetics” 30 citations
,
June 2000 in “Journal of dermatological science” Human keratinocytes do not naturally respond to androgens.
10 citations
,
September 2021 in “The FASEB Journal” ACKR2 helps prevent skin scarring and hair loss by controlling inflammation.