137 citations
,
October 2009 in “The American journal of pathology” Matriptase is crucial for keeping epithelial tissues healthy and functioning properly.
23 citations
,
August 2018 in “Biochimica and biophysica acta. Molecular and cell biology of lipids” Different sPLA2 enzymes affect immunity, skin and hair health, reproduction, and may be potential targets for therapy.
55 citations
,
November 2010 in “Journal of Allergy and Clinical Immunology” The L412F variant of TLR3 is linked to skin infections, more viral infections, and autoimmune issues.
January 1995 in “Seoul National University Open Repository (Seoul National University)” SSO helps in skin protection and keratinization.
January 2006 in “OpenCommons at University of Connecticut (University of Connecticut)” Overexpressing AVP1 and AtNHX1 in plants improves salt tolerance and root hair development.
October 2024 in “Journal of the Endocrine Society” Certain genetic variants reduce enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
20 citations
,
December 2000 in “Fertility and Sterility” The N363S gene variant does not cause higher adrenal androgen levels in women with polycystic ovary syndrome.
November 2025 in “Journal of Investigative Dermatology” KLHL24-mutant stem cells help understand skin and heart disease.
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.
15 citations
,
June 2012 in “British Journal of Dermatology” A new mutation in the KRT86 gene causes a hair disorder with variable expression.
Controlling Tslp can improve health in AEC syndrome patients.
14 citations
,
May 2017 in “Journal of Investigative Dermatology” A rare gene mutation causes skin fragility and itching without affecting hair or nails.
February 2020 in “Definitions” Mutations in the KRT16 gene can cause skin and nail disorders.
28 citations
,
February 2010 in “Experimental Dermatology” The frizzy mouse and hairless rat mutations are due to changes in the Prss8 gene.
40 citations
,
November 1998 in “The journal of investigative dermatology/Journal of investigative dermatology” S100A3 protein is crucial for hair shaft formation in mice.
12 citations
,
February 2023 in “Applied and Environmental Microbiology” Mutants of CYP154C2 enzyme significantly improved steroid conversion efficiency.
May 2018 in “KU ScholarWorks (The University of Kansas)” Targeting 5α-reductase type 1 may help manage Tourette-like symptoms.
April 2018 in “Journal of Investigative Dermatology” Screening for the NUDT15 gene variant can prevent severe side effects from thiopurine drugs in East-Asian people.
April 2026 in “Cellular and Molecular Immunology” SPT6 prevents excessive skin inflammation by blocking a feedback loop.
March 2023 in “Scientific reports” Hair growth-related cells need the enzyme SCD1 to help maintain the area that supports hair growth.
April 2024 in “The Journal of urology/The journal of urology” SRD5A2 methylation in blood can predict how well someone will respond to finasteride treatment.
October 2025 in “Journal of the Endocrine Society” A rare ovarian tumor was found in a young woman with a genetic fat disorder.
1 citations
,
September 2023 in “Acta dermato-venereologica” Certain genetic variants are linked to frontal fibrosing alopecia in Spanish patients.
May 2025 in “Proceedings of the National Academy of Sciences” UTX is crucial for skin differentiation and health, especially in females.
December 2025 in “Biomolecules” Targeting protein S-palmitoylation could lead to new skin disease treatments.
146 citations
,
May 2002 in “The American journal of pathology” Cathepsin L is essential for normal hair growth and development.
4 citations
,
December 2022 in “Advanced science” SCD1 is important for hair growth by keeping the connection in skin cells where hair stem cells live stable.
113 citations
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June 2010 in “Biological Chemistry” Cathepsin L deficiency causes large, abnormal cell structures and health issues in mice.
11 citations
,
November 2015 in “Carcinogenesis” Deleting TNFα gene reduces skin cancer risk in certain mice.
SLC24A5 shows a clear selective sweep, but no link to UV radiation intensity.