227 citations
,
January 1998 in “Journal of biological chemistry/The Journal of biological chemistry” Mutations at Val-889 and Arg-752 disrupt key interactions in the androgen receptor, affecting its function.
52 citations
,
July 2011 in “PubMed” TRPS1 is crucial for bone, kidney, and hair follicle development.
25 citations
,
February 2021 in “Diabetes” Dock5 is important for skin healing and could help treat diabetic wounds.
77 citations
,
April 2005 in “Journal of Investigative Dermatology” Repetin is a protein involved in skin and hair development, binding calcium and compensating for other proteins when needed.
July 2025 in “Journal of Investigative Dermatology” BrdU speeds up hair follicle aging and reduces hair quality.
June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” A mutation in the KRT82 gene is significantly associated with Alopecia Areata.
6 citations
,
November 2022 in “Antioxidants” OR2AT4 helps reduce aging and cell damage in human skin cells.
85 citations
,
March 2008 in “Journal of Cell Science” The mutation causing Hutchinson-Gilford progeria syndrome leads to severe skin problems and early death in mice.
April 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” A gene variant causes patched hair loss in mice, similar to alopecia areata in humans.
Defective nuclear transport may cause gene expression changes in Progeria.
100 citations
,
December 2002 in “Journal of biological chemistry/The Journal of biological chemistry” Researchers mapped and categorized specific keratin-associated protein genes on human chromosome 21q22.1.
148 citations
,
May 2012 in “The American Journal of Human Genetics” Cantú syndrome is caused by mutations in the ABCC9 gene.
The AMHR2-482A>G gene change is linked to higher PCOS risk.
1 citations
,
September 2020 in “Journal of dermatology” Researchers found a new mutation in the LIPH gene of a woman with a rare hair condition.
15 citations
,
May 2013 in “American Journal of Medical Genetics - Part A” People with X-linked hypohidrotic ectodermal dysplasia have no sweat ducts and less, thinner hair.
19 citations
,
July 2020 in “EBioMedicine” A gene variant increases the risk of a type of hair loss by affecting hair protein production.
36 citations
,
March 2002 in “Journal of Biological Chemistry” Food deprivation increases MST enzyme in the brain, possibly affecting energy balance.
19 citations
,
February 2016 in “Journal of Biological Chemistry” KCNQ potassium channels help control the sensitivity of touch receptors in the skin.
2 citations
,
July 2021 in “UNC Libraries” Mutations at Val-889 and Arg-752 disrupt key interactions in androgen receptor dimerization.
4 citations
,
July 2023 in “Frontiers in Microbiology” HGF combined with ADA is highly accurate for diagnosing tuberculous pleural effusion, especially in younger females.
7 citations
,
July 2023 in “International Journal of Molecular Sciences” Hyaluronic acid reduces cell damage from DMSO in preserved human cells.
12 citations
,
August 2020 in “Frontiers in Genetics” H19 boosts hair growth potential by activating Wnt signaling, possibly helping treat hair loss.
5 citations
,
September 2015 in “BMC Medical Genetics” The EDAR gene mutation leads to thinner and more deformed hair shafts.
22 citations
,
August 2021 in “Frontiers in medicine” Immune cells in Hidradenitis suppurativa become more inflammatory and may be important for treatment targets.
12 citations
,
December 2011 in “Journal of Dermatological Science” The C-terminal tail of AHF/trichohyalin is essential for organizing keratin filaments in keratinocytes.
29 citations
,
March 2000 in “Journal of Investigative Dermatology” The gene for Marie Unna hereditary hypotrichosis is located on chromosome 8p21.
22 citations
,
December 2020 in “mSphere” A fungal enzyme was used to make compounds more soluble, aiding drug discovery and crop protection.
2 citations
,
June 2013 in “Journal of Clinical Pathology” The LMNA mutation affects skin structure even in asymptomatic carriers.
April 2019 in “Journal of Investigative Dermatology” Stabilizing HIF1A in hair follicles may boost hair growth by enhancing energy production and blood vessel formation.
4 citations
,
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.