April 2019 in “Journal of Investigative Dermatology” Increasing COX-2 in mouse skin causes bigger sebaceous glands and thinner hair, but stopping COX-2 can reverse hair thinning.
16 citations
,
September 2015 in “International Journal of Molecular Sciences” A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.
5 citations
,
February 2003 in “American Journal of Medical Genetics Part A” A chromosomal change may cause ectodermal dysplasia and developmental issues in a child.
Mutant Cx43 causes slower wound healing and hair growth issues in ODDD.
January 2024 in “International journal of molecular sciences” Hoxc13 gene affects wool length in Gansu alpine fine-wool sheep.
3 citations
,
March 2016 in “Experimental Dermatology” A mutation in the hairless gene speeds up severe itchy skin in mice on a special diet.
December 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” Stress can cause a type of hair loss in mice lacking the CCHCR1 gene.
35 citations
,
April 2008 in “Journal of Biological Chemistry” Hirosaki hairless rats lack hair due to missing DNA with key keratin genes.
20 citations
,
January 2002 in “Laboratory Animals” Mutations in the hairless gene cause hair loss and skin cysts in rhesus macaques.
2 citations
,
June 2023 in “Journal of cell science” Mutations in iRhom2 affect hair and skin in mice and are linked to esophageal cancer, with ADAM17 playing a crucial role.
October 2023 in “The American Journal of Gastroenterology” Cronkhite-Canada syndrome is rare, with high mortality and cancer risk, needing more research for treatment guidelines.
26 citations
,
September 2009 in “Clinical genetics” Arab APS1 patients have unique and recurrent AIRE gene mutations.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” HSD11b1 affects skin nerves and increases non-histaminergic itch.
31 citations
,
February 1997 in “The Journal of Clinical Endocrinology and Metabolism” People who carry the 21-Hydroxylase Deficiency gene are not more likely to have excessive male hormone levels.
24 citations
,
December 2013 in “Archives of Dermatological Research” 81 citations
,
February 2014 in “EMBO molecular medicine” Activating Nrf2 in skin cells causes skin disease similar to chloracne in mice.
412 citations
,
January 1998 in “Science” A mutation in the human hairless gene causes alopecia universalis.
103 citations
,
March 2015 in “Nature Communications” A genetic region near the PAX1 gene is linked to a higher risk of scoliosis in females.
13 citations
,
April 1994 in “Baillière's clinical endocrinology and metabolism” Some people have genetic mutations that make them resistant to vitamin D, leading to rickets even with enough vitamin D intake.
November 2025 in “BMC Genomics” Wrinkled skin in Xiang pigs is linked to gene changes related to oxidative stress and the extracellular matrix.
197 citations
,
June 2009 in “American journal of human genetics” WNT10A mutations often cause ectodermal dysplasias, with males showing more tooth issues than females.
48 citations
,
April 2008 in “Human Molecular Genetics” Progerin affects cell shape but not hair or skin in mice.
January 2006 in “Chieh P'ou Hsueh Pao” Beta-catenin boosts hair follicle cell growth by increasing c-myc expression.
April 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” Disrupting the Tsc2 gene in certain cells leads to thicker skin, larger hair, and changes in hair growth signaling, which can be partly reversed with specific treatment.
4 citations
,
May 2024 in “Genes” KRT81 gene variations in sheep affect wool weight but not fiber length or thickness.
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.
1 citations
,
January 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” Increased PHGDH expression causes early melanin buildup in hair follicles.
November 2005 in “PubMed” The hairless gene in Kunming mice is important for hair and skin, and shows genetic variations.
29 citations
,
June 2016 in “Experimental Dermatology” MCHR2 gene duplications may be linked to alopecia areata.
21 citations
,
September 1997 in “British Journal of Dermatology” Monilethrix is linked to the type II keratin gene on chromosome 12q13.