40 citations
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November 2021 in “International Journal of Molecular Sciences” Mutant keratins cause inflammation in Epidermolysis Bullosa Simplex, suggesting targeting them could help treat the disorder.
19 citations
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February 2016 in “Journal of Biological Chemistry” KCNQ potassium channels help control the sensitivity of touch receptors in the skin.
372 citations
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December 2004 in “Nature Genetics” 26 citations
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May 2007 in “Differentiation” Foxn1 helps skin cells mature by controlling a specific protein's activity.
9 citations
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January 2023 in “International Journal of Biological Sciences” CTHRC1 is essential for healing and preventing heart rupture after a heart attack.
October 2023 in “Psychiatry research. Case reports” A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.
9 citations
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February 2001 in “Journal of Dermatological Science” p21waf1/cip1 and p27kip1 help in hair follicle differentiation in rats.
52 citations
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May 2006 in “Journal of Structural Biology” Keratin-associated proteins help link filaments and affect keratin's strength.
6 citations
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January 2010 in “Journal of Biochemical and Molecular Toxicology” The ID2 gene can help distinguish between sensitizers and irritants in skin cells.
January 2022 in “Function” Studying rare genetic disorders can help us understand and treat common diseases better.
6 citations
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January 2004 in “DNA Research” A mutation in the Sgkl gene causes defective hair growth in mice.
77 citations
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March 2000 in “Journal of Investigative Dermatology” The research identified six functional hair keratin genes and four pseudogenes, providing insights into hair formation and gene organization.
January 2001 in “Acta Academiae Medicine Militaris Tertiae” K14 expression in young rats differs from adults.
30 citations
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October 1999 in “Differentiation” Mutant MK6a transgenes in mice cause blistering, hair loss, and potential human alopecia.
1 citations
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July 2025 in “JCI Insight” Hair follicle stem cells help maintain skin health by moving to and supporting the skin's surface layers.
Keratinocytes can reverse the effects of the GNAQ oncogene, inhibiting melanoma cell growth.
5 citations
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June 2023 in “BMC genomics” A specific gene mutation causes long hair in Angora rabbits.
April 1996 in “Journal of Dermatological Science” 21 citations
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March 2015 in “Neurological Sciences” A new genetic mutation linked to CARASIL syndrome and small artery disease was found in a Chinese family.
1 citations
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April 2022 in “Journal of cosmetic dermatology” Krox20 overexpression in fibroblasts may play a role in abnormal scar formation and could be a target for new treatments.
25 citations
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September 1995 in “Biochemistry and Cell Biology” High levels of human keratin 16 in mice cause skin lesions and abnormal skin development.
44 citations
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January 2017 in “Journal of Investigative Dermatology” Mutations in the KLHL24 gene cause skin blistering in epidermolysis bullosa simplex.
2 citations
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March 2019 in “Journal of Histochemistry and Cytochemistry” Neuronatin is found in specific cells within rat testis, hair follicles, tongue, and pancreas, suggesting it has various roles in tissue development and function.
17 citations
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November 2015 in “Oxidative Medicine and Cellular Longevity” Fibroblast Growth Factor-9 helps repair heart damage after a heart attack by creating new blood vessels, especially in diabetics.
188 citations
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June 1998 in “Molecular cell” Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.
100 citations
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November 1997 in “Human Genetics” A new mutation in the hHb1 keratin gene is linked to the hair disorder monilethrix.
24 citations
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July 2014 in “Journal of Investigative Dermatology” Nagashima-type palmoplantar keratosis in Asians is caused by a SERPINB7 gene mutation.
August 2024 in “Advanced Healthcare Materials” RK81 can help promote hair growth.
53 citations
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August 2005 in “The Journal of Cell Biology” Sgk3 is essential for normal hair follicle growth and maintenance.
32 citations
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April 2014 in “The journal of investigative dermatology/Journal of investigative dermatology” Loss of keratin K2 causes skin problems and inflammation.