42 citations
,
October 2009 in “The journal of investigative dermatology/Journal of investigative dermatology” Mutations in the KRT85 gene cause hair and nail problems.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A patient with a PLEC mutation has epidermolysis bullosa, muscular dystrophy, and myasthenia gravis, which improved with steroid treatment.
May 2009 in “OPAL (Open@LaTrobe) (La Trobe University)” Suppressing the HGPS mutation may improve symptoms and suggest reversibility.
23 citations
,
April 2016 in “American Journal of Pathology” The research suggests that a specific skin gene can be controlled by signals within and between cells and is wrongly activated in certain skin diseases.
18 citations
,
August 2015 in “Biochemical and Biophysical Research Communications” XEDAR triggers a specific signaling pathway in cells.
11 citations
,
March 2013 in “Gene” A certain genetic variation in the IL1A gene may lower the risk of a hair loss condition in Chinese people.
11 citations
,
September 2016 in “Journal of virological methods” Rabies virus was found in specific skin cells of rabid dogs' muzzles, suggesting these cells could help diagnose rabies.
21 citations
,
April 2014 in “PLoS ONE” A rare gene variant causes hair and nail issues in a family.
23 citations
,
November 2024 in “Nature”
27 citations
,
June 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” The study found that variations in hair protein genes are likely due to evolutionary deletions or duplications.
111 citations
,
October 2008 in “Nature Genetics” Researchers found a new gene area linked to male-pattern baldness, which, along with another gene, significantly increases the risk of hair loss in men.
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.
286 citations
,
April 2009 in “The journal of neuroscience/The Journal of neuroscience” TRPA1 is crucial for mechanical sensitivity in skin sensory neurons.
February 2026 in “International Journal of Molecular Sciences” Muscarinic acetylcholine receptors in skin cells help regulate and promote hair growth.
October 2024 in “Tikrit Journal of Pure Science” High Geh gene expression in Staphylococcus aureus contributes to acne.
42 citations
,
December 2016 in “Cell Death & Differentiation” Damaging mitochondrial DNA in mice speeds up aging due to increased reactive oxygen species, not through the p53/p21 pathway.
March 2010 in “The Journal of Urology” Methylation of the 5-AR2 gene may cause resistance to Finasteride in BPH patients.
6 citations
,
June 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” A mutation in the SREBF1 gene causes both hereditary mucoepithelial dysplasia and IFAP syndrome, which are related conditions.
54 citations
,
July 2017 in “Scientific Reports” JMJD3 and NF-κB activate Notch1, which is essential for skin cell movement and wound healing.
January 2025 in “Fìzìologìčnij žurnal” PDRN may reduce inflammation and complications in revision rhinoplasty for patients with high fibrinogen levels.
99 citations
,
March 2013 in “Journal of Investigative Dermatology” Mutations in the ABCB6 gene cause Dyschromatosis Universalis Hereditaria.
59 citations
,
September 2007 in “Biochemical and Biophysical Research Communications” The TRPV3 gene mutation affects hair growth by keeping mice in the growth phase longer, which could help treat hair loss.
36 citations
,
October 2000 in “British Journal of Dermatology” A different gene near the hairless gene on chromosome 8p21 causes a rare hair loss condition in a German family.
33 citations
,
February 2012 in “British Journal of Dermatology” Mutations in the p63 gene affect skin adhesion, barrier integrity, and hair growth.
11 citations
,
November 2015 in “Carcinogenesis” Deleting TNFα gene reduces skin cancer risk in certain mice.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” HSD11b1 affects skin nerves and increases non-histaminergic itch.
3 citations
,
October 2024 in “Experimental Dermatology” Higher CRHR1 levels in AA patients lead to increased inflammation.
June 2020 in “Journal of Investigative Dermatology” Atopic dermatitis shows a link between skin layers in inflammation, detectable with detailed gene analysis.
December 2025 in “International Journal of Surgery” GBP1 is a key target for treating Epstein-Barr virus-related kidney cancer, and finasteride may help.
39 citations
,
December 1998 in “Journal of Cell Science” The LEF-1 binding site enhances gene expression in hair follicles, with other proteins aiding specific regulation.