126 citations
,
October 1998 in “Experimental Dermatology” The hr gene is crucial for skin and hair health, with mutations causing hair disorders.
February 2025 in “bioRxiv (Cold Spring Harbor Laboratory)” Keratin 15 helps keep skin cells in a young, undifferentiated state.
May 2025 in “Experimental Dermatology” A new genetic tool improves the study of hair growth and potential hair disorder treatments.
226 citations
,
January 2006 in “International review of cytology” Keratin-associated proteins are crucial for hair strength and structure.
Sox13 is a marker for early hair follicle development but not essential for skin and hair growth.
482 citations
,
June 1979 in “Proceedings of the National Academy of Sciences” Keratins provide structural strength in epithelial cells and help identify cell origins.
12 citations
,
September 2014 in “Bone” A vitamin D receptor mutation causes rickets and affects immune responses.
5 citations
,
December 2002 in “The journal of investigative dermatology. Symposium proceedings/The Journal of investigative dermatology symposium proceedings” Skin cells might help spread prion diseases like Creutzfeldt-Jakob disease.
5 citations
,
January 2011 in “Archives de Pédiatrie” A severe form of Netherton syndrome caused by a specific gene mutation led to neonatal deaths in a family.
139 citations
,
August 2006 in “Molecular and Cellular Biology” Rac1 is vital for hair follicle health but not needed for skin maintenance.
303 citations
,
October 2000 in “Nature” RXRα is crucial for hair growth and skin cell function.
January 2022 in “International journal of dermatology and venereology” A Chinese man with KID syndrome had a new mutation in the GJB2 gene.
57 citations
,
August 1997 in “Pediatrics International” VDDR I and II are genetic disorders affecting vitamin D use, causing rickets, with VDDR I treatable by vitamin D supplements and VDDR II needing high doses and calcium.
92 citations
,
February 2005 in “Journal of Investigative Dermatology”
156 citations
,
January 1989 in “Genes & Development” Keratin expression reflects cell organization and differentiation, not causes it.
January 2000 in “Acta Academiae Medicine Militaris Tertiae” Different keratins in hair follicles can help identify hair tumor origins.
6 citations
,
May 2016 in “Experimental Dermatology” The type of tumor suppressor gene lost affects the behavior of skin cancer.
April 2013 in “Developmental Cell” Brg1 is crucial for keeping hair follicle stem cells and repairing skin, working with the Sonic Hedgehog pathway to promote hair growth.
5 citations
,
May 2023 in “Microbial Cell Factories” A stable, active version of a growth factor was made in bacteria, showing promise for medical use.
53 citations
,
January 2011 in “Diabetes” People with PCNT mutations often develop severe insulin resistance and early-onset diabetes during childhood or adolescence.
250 citations
,
November 2003 in “The Journal of Cell Biology” BMP receptor IA is essential for proper hair cell differentiation in mice.
175 citations
,
August 1997 in “Nature Genetics” 18 citations
,
September 2003 in “International Journal of Cancer” EBV infection increases a specific keratin variant in carcinoma cells, possibly affecting cell structure and cancer progression.
11 citations
,
March 2020 in “American Journal of Medical Genetics Part A” A mutation in the EDNRA gene causes Oro-Oto-Cardiac syndrome, affecting face and heart development.
3 citations
,
January 2022 in “Burns & Trauma” CTHRC1 helps sweat glands recover by rebuilding nearby blood vessels.
3 citations
,
May 2016 in “Dermatopathology” Lrig1 could be a marker for advanced sebaceous carcinoma.
13 citations
,
August 1985 in “The Journal of Dermatology” HKN-2 antibody targets specific skin and hair cells, showing keratin complexity.
February 2016 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” A new TP63 mutation was found in a baby with EEC syndrome, showing the need for TREC testing to check for immune issues.
January 2012 in “Zhongguo shouyi xuebao” Sheep breeds show different keratin gene expression in the groin, linked to hair follicle density.