January 2025 in “Open Life Sciences” Overexpression of the HE4 gene in mice causes eye inflammation and cloudiness.
17 citations
,
October 2006 in “Molecular and Cellular Endocrinology” The L457(3.43)R mutation in the human lutropin receptor causes increased activity and hormone insensitivity, leading to precocious puberty.
36 citations
,
July 1996 in “The journal of investigative dermatology/Journal of investigative dermatology” Mice with the 'lanceolate hair' mutation have abnormal hair and skin similar to human Netherton's syndrome.
30 citations
,
June 2016 in “Journal of Human Genetics” Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.
12 citations
,
January 2016 in “Journal of Assisted Reproduction and Genetics” Certain gene variations are linked to higher male hormone levels in Chinese women with PCOS and insulin resistance.
5 citations
,
May 2024 in “BMC Genomics” Different genes affect hair length in yaks.
March 2024 in “Research Square (Research Square)” Sex steroids affect the MafB gene differently in male and female hamsters.
June 2005 in “Journal of Investigative Dermatology” A bull with a gene mutation was asymptomatic, synthetic retinoids cause hair loss, and new therapeutic targets were identified for skin diseases.
2 citations
,
August 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific mutation in the K25 gene causes a rare genetic disorder with curly hair at birth and later hair loss, along with dental issues.
23 citations
,
July 2022 in “Nature Cell Biology” Targeting THY1 can improve skin repair and healing.
17 citations
,
June 2019 in “The journal of immunology/The Journal of immunology” A specific DNA region is crucial for Foxn1 gene expression in thymus cells but not in hair follicles.
3 citations
,
March 2009 in “Hirosaki University Repository for Academic Resources (Hirosaki University)” Hirosaki hairless rats have sparse, twisted hair due to missing hair keratin genes.
7 citations
,
January 2020 in “Journal of Dermatology” Cantu syndrome, which causes excessive hair growth and skin issues, is due to a mutation in the ABCC9 gene, and understanding this could help develop new treatments for hair diseases.
April 2017 in “Journal of Investigative Dermatology” The BMP/Smads pathway and Id2 gene control hair follicle stem cells, affecting their rest and growth phases.
11 citations
,
January 2018 in “Royal Society Open Science” Scientists found genes linked to the growth of high-quality brush hair in Chinese Haimen goats.
November 2025 in “Frontiers in Cell and Developmental Biology” The study maps goat hair follicle cells, revealing key genes and pathways involved in hair growth and cell death.
March 2025 in “Clinical Cosmetic and Investigational Dermatology” The Tru9I variant in the VDR gene may influence alopecia areata risk and vitamin D levels.
7 citations
,
August 2017 in “Genetic testing and molecular biomarkers” A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.
21 citations
,
April 2014 in “PLoS ONE” A rare gene variant causes hair and nail issues in a family.
January 2025 in “Pakistan Journal of Health Sciences” The Cyp11a1 gene variation has a weak link to PCOS, but higher di-hydro-testosterone levels are found in PCOS patients.
4 citations
,
February 2023 in “International Journal of Stem Cells” The FTO gene hinders stem cells in hair follicles from becoming pigment cells.
4 citations
,
December 2013 in “The Journal of Dermatology” A new mutation in the K6b gene caused a girl's late-appearing nail condition.
September 2024 in “Frontiers in Genetics” A specific genetic marker is linked to male pattern baldness in Han Chinese men.
43 citations
,
September 2001 in “Annals of Neurology” Hair root analysis can effectively detect somatic mosaicism in double cortex syndrome.
3 citations
,
April 2012 in “Bioinformation” Two specific SNPs in the TRPS1 gene cause excessive hair growth by altering the protein's structure.
50 citations
,
April 2014 in “Nature Communications” The research identified new skin traits in mice, some linked to human skin conditions.
April 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” MPZL3 protein is important for controlling hair growth cycles.
Defective nuclear transport may cause gene expression changes in Progeria.
October 2017 in “The Indian Journal of Animal Sciences” The prolactin gene polymorphism doesn't affect cashmere quality in these goats.
6 citations
,
January 2020 in “Czech Journal of Animal Science” The FAT1 gene and its variations can help improve wool quality in Chinese Merino sheep through selective breeding.