November 2022 in “Frontiers in pediatrics” A girl with skin rashes and low zinc levels improved with zinc supplements and had new gene mutations linked to her condition.
January 2013 in “International Journal of Trichology” A new mutation in the TRPS1 gene was found in a Ukrainian girl with Trichorhinophalangeal syndrome type I.
70 citations
,
December 2004 in “Differentiation” The study identified and characterized new keratin genes linked to hair follicles and epithelial tissues.
2 citations
,
April 2008 in “PubMed” A gene mutation causes monilethrix in a Chinese family.
75 citations
,
September 2016 in “EMBO journal” PRC2 is essential for maintaining intestinal cell balance and aiding regeneration after damage.
15 citations
,
December 2014 in “PLoS ONE” A mutation in the iRhom2 gene causes hairless mice due to abnormal hair follicle development.
February 2025 in “Journal of Clinical Investigation” RNase L hinders hair growth by altering immune signals.
January 1995 in “Adolescent and pediatric gynecology” Mutations in the androgen receptor gene cause different levels of androgen insensitivity, making it hard to create simple tests for the condition.
November 2022 in “Gigascience” A specific genetic deletion in goats affects cashmere yield and thickness.
4 citations
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April 2012 in “The journal of investigative dermatology/Journal of investigative dermatology” Krt16-deficient mice help understand skin disorders like PC and FNEPPK.
Deleting the MAD2L1 gene in mice led to rapid tumor growth despite chromosomal instability.
50 citations
,
February 2016 in “Journal of Investigative Dermatology” A mutation in the KRT25 gene causes a rare hair disorder with thin, woolly hair.
15 citations
,
June 1993 in “Archives of Dermatology” A 22-year-old's gray hair partially turned back to its original color without known causes.
9 citations
,
February 2018 in “The Journal of Dermatology” A new mutation in the LIPH gene was found to cause a rare hair disorder in a Japanese boy.
November 2016 in “The Molecular Biology Society of Japan”
6 citations
,
August 2022 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” New genetic mutations linked to rare skin disorders were found in three newborns.
35 citations
,
May 2019 in “Frontiers in genetics” Non-coding RNAs play key roles in the hair growth cycle of Angora rabbits.
6 citations
,
May 2016 in “Experimental Dermatology” The type of tumor suppressor gene lost affects the behavior of skin cancer.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Targeting impaired Nrf2 signaling might help treat hidradenitis suppurativa early on.
June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” Scientists found new and known long non-coding RNAs in mouse hair follicle stem cells that may be important for stem cell function and could be targets for cancer treatment.
January 2025 in “Turkish Journal of Cerebrovascular Diseases” CARASIL can cause different symptoms even with the same genetic mutation.
13 citations
,
March 2020 in “Genes” Disrupting the FGF5 gene in rabbits leads to longer hair by extending the hair growth phase.
62 citations
,
October 2018 in “Journal of pathology” Keratin 17 is linked to various diseases, including cancer and skin conditions, and may be a target for diagnosis and treatment.
2 citations
,
January 2014 in “Case Reports in Clinical Medicine” Cronkhite-Canada syndrome is a rare condition causing gut polyps, hair loss, skin changes, and nail issues, often with a poor outlook.
July 1993 in “Inpharma Weekly” Dicentrine reduced heart disease risk factors in rats, T-588 protected mice brains without side effects, Provir blocked herpes virus and lessened mouse symptoms, and LY191704 could treat hair loss and prostate issues.
1 citations
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January 2025 in “Frontiers in Oncology” REV7 is crucial for genome stability and cancer treatment, making it a potential target for therapy.
46 citations
,
October 2022 in “Biomaterials” 44 citations
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May 1980 in “Archives of Dermatology” "20-nail dystrophy" can have multiple causes.
17 citations
,
August 2018 in “BMC Genomics” The HOXC13 gene affects different hair proteins in cashmere goats in varied ways and is controlled by a feedback loop and other factors.
January 2016 in “Springer eBooks” A 19-year-old male with delayed puberty was successfully treated for a condition that prevents normal hormone production.