3 citations
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February 2020 in “The journal of gene medicine” A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.
69 citations
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January 2015 in “Cell & tissue research/Cell and tissue research” Keratin mutations cause skin diseases and could lead to new treatments.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” A girl with Becker naevus syndrome has a genetic variant in the ACTB gene related to her symptoms.
7 citations
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April 2004 in “International Journal of Dermatology” The newborn's skin blistering is due to a genetic condition called epidermolytic hyperkeratosis.
1 citations
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January 2025 in “Therapeutic Advances in Drug Safety” Antituberculosis drugs can cause severe skin reactions, requiring careful diagnosis and treatment.
March 2023 in “The Journal of Urology” Higher SRD5A2 expression predicts better response to finasteride in treating urinary symptoms.
6 citations
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December 2022 in “International Journal of Molecular Sciences” EZH2 is crucial for uterine gland development and female fertility.
30 citations
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February 2021 in “Journal of Medical Virology” TMPRSS2 affects COVID-19 severity and treatment options.
3 citations
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January 2014 in “The Journal of Dermatology” Squaric acid dibutylester for alopecia areata can cause benign skin lymphoid growths.
January 2024 in “Genetics in Medicine Open” Adults with Tatton-Brown-Rahman syndrome may have serious heart problems and need lifelong heart monitoring.
December 2025 in “Molecular Pain” Targeting the MC-5-HT-HTR2A axis may help treat chronic itching.
April 2026 in “Communications Biology” The development of breeding tubercles in male zebrafish relies on a specific enzyme that processes hormones.
VDAC2 promotes cell death in cashmere goat hair follicles through the P53 pathway.
55 citations
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November 2018 in “American journal of human genetics” Mutations in the LSS gene cause a rare type of hereditary hair loss.
23 citations
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June 2010 in “Journal of Investigative Dermatology” A mutation in the Soat1 gene causes hair structure defects and other health issues in AKR/J mice.
1 citations
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May 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” The fer-ts mutation in plants prevents root hair growth at high temperatures.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” Most patients experienced mild to moderate skin problems during a trial for a desmoid tumor treatment.
114 citations
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July 2003 in “PubMed” Lack of KSR1 stops certain skin tumors in mice.
40 citations
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January 2017 in “Intestinal Research” Genotyping for NUDT15 p.Arg139Cys can help predict thiopurine side effects in Japanese IBD patients.
Loss of the p53 gene alone causes tumors, and losing both p53 and Rb genes speeds up aggressive skin cancer.
2 citations
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July 2024 in “International Journal of Molecular Sciences” Csdc2 helps hair growth in cashmere goats by regulating specific genes.
4 citations
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January 2006 in “PubMed” DHT deficiency may disrupt rat epididymis function by affecting estrogen receptors.
2 citations
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April 2010 in “The Open Dermatology Journal” Corneodesmosin is essential for skin and hair health, and its dysfunction can lead to skin and hair disorders.
112 citations
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January 2013 in “Experimental dermatology” Faulty Notch signalling may cause hair follicle changes and inflammation in hidradenitis suppurativa.
7 citations
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January 2018 in “Neurodegenerative Diseases” Researchers found a new ABCD1 gene mutation linked to a rare brain and nerve disorder with unusual brain changes.
70 citations
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April 2014 in “Annales d'endocrinologie” New genes and pathways are important for testosterone production and male sexual development.
37 citations
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January 2006 in “Carcinogenesis” Antizyme slows skin tumor growth by reducing cell growth in mice.
2 citations
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August 2022 in “Animals” Different versions of the KRTAP6-2 gene in goats can lead to thinner cashmere fibers.
47 citations
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April 2000 in “Experimental Dermatology” A new gene mutation causes a rare type of hair loss.
7 citations
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March 2012 in “European Journal of Pediatrics” A boy with a rare skin condition and kidney disease improved with cyclosporine after steroids failed, suggesting a new treatment approach.