23 citations
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February 2015 in “The American journal of pathology” Keratosis pilaris is often linked to genetic mutations and causes skin and hair abnormalities, regardless of those mutations.
28 citations
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December 2015 in “Journal of biological chemistry/The Journal of biological chemistry” Prostasin has two roles in skin: one for normal skin development without needing activation, and another for proper hair growth that requires activation.
39 citations
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April 2019 in “The journal of immunology/The Journal of immunology” Malt1 protease is essential for regulatory T cell function and could be targeted to boost antitumor immunity.
46 citations
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December 2010 in “The journal of investigative dermatology/Journal of investigative dermatology” Disrupting Acvr1b in mice causes severe hair loss and thicker skin.
November 2025 in “Journal of Investigative Dermatology” KLHL24-mutant stem cells help understand skin and heart disease.
76 citations
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May 2011 in “Cell death and differentiation” A20 protein is crucial for normal skin and hair development.
8 citations
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August 1987 in “The Journal of Dermatology” BKN-1 antibody targets specific keratin in basal cell epithelioma and normal skin basal cells.
RIPK1 inhibitors might help prevent alopecia areata.
April 2016 in “Journal of Investigative Dermatology” Mutations in the TSPEAR gene cause a new form of ectodermal dysplasia affecting hair and tooth development.
10 citations
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January 2013 in “Journal of skin cancer” PKC ε increases hair follicle stem cell turnover and may raise skin cancer risk.
151 citations
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August 2011 in “The EMBO Journal” The enzyme PA-PLA1α is important for proper hair follicle development.
105 citations
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February 1996 in “Journal of biological chemistry/The Journal of biological chemistry” The TGM3 gene's promoter region is key for skin and hair cell function and may aid gene therapy.
July 2023 in “British journal of dermatology/British journal of dermatology, Supplement” HPV8 E6 gene causes growth of certain skin stem cells.
January 2011 in “Anhui nongye kexue” The vector successfully directed specific gene expression in hair follicles.
2 citations
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August 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific mutation in the K25 gene causes a rare genetic disorder with curly hair at birth and later hair loss, along with dental issues.
3 citations
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March 2016 in “Experimental Dermatology” A mutation in the hairless gene speeds up severe itchy skin in mice on a special diet.
70 citations
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September 2017 in “Expert opinion on therapeutic patents” The review suggests that while many AKR1C3 inhibitors show promise for treating certain cancers, more research is needed to confirm their effectiveness in humans.
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.
June 2010 in “Chinese Journal of Dermatology” A new gene mutation is linked to monilethrix in the studied family.
93 citations
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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.
3 citations
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January 2019 in “Journal of Dermatology” The p.P25L mutation in the KRT5 gene causes a rare skin condition that worsens over time and may lead to hair loss starting in young adulthood.
November 2025 in “Journal of Investigative Dermatology” Genetic variants in specific genes cause central centrifugal cicatricial alopecia.
3 citations
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March 2009 in “Hirosaki University Repository for Academic Resources (Hirosaki University)” Hirosaki hairless rats have sparse, twisted hair due to missing hair keratin genes.
20 citations
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May 2007 in “Asian-Australasian Journal of Animal Sciences” KAP8.2 gene variations affect cashmere quality in goats.
37 citations
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October 2006 in “Archives of Biochemistry and Biophysics” A unique gene mutation causes vitamin D-resistant rickets without causing hair loss.
19 citations
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April 2024 in “Nature Cell Biology” 47 citations
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January 2024 in “iScience” Stress keratins are expressed less in diseased skin and are linked to differentiation, inflammation, and immunity.
7 citations
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June 2011 in “Movement Disorders” A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.
11 citations
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November 2019 in “The FASEB Journal” A mutation in the MAP2 gene causes reduced hair follicle density, leading to hairlessness.
4 citations
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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.