47 citations
,
April 2000 in “Experimental Dermatology” A new gene mutation causes a rare type of hair loss.
12 citations
,
December 2013 in “Immunological Investigations” The SNP rs6457452 is linked to a higher risk of alopecia areata in Koreans.
6 citations
,
July 2023 in “Nature cell biology” SOX9 helps determine stem cell roles by interacting with DNA and proteins that control gene activity.
50 citations
,
February 2004 in “Genomics” A gene mutation causes lanceolate hair in rats by disrupting hair shaft integrity.
4 citations
,
January 2016 in “International journal of reproduction, contraception, obstetrics and gynecology” A certain genetic variation is linked to a higher risk of polycystic ovarian syndrome.
3 citations
,
February 2019 in “Animal biotechnology” The PLP2 gene affects cashmere fiber quality in goats and is linked to hair growth and loss.
28 citations
,
November 2018 in “American Journal of Medical Genetics Part A” ODC1 gene mutations cause a neurodevelopmental disorder with large head size, hair loss, and facial abnormalities.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” A girl with Becker naevus syndrome has a genetic variant in the ACTB gene related to her symptoms.
75 citations
,
October 2010 in “Mammalian genome” Sphynx cats are hairless and Devon Rex cats have curly hair due to specific genetic mutations.
Pvalb8 is essential for zebrafish hearing and hair cell development, and its mutation causes hearing loss.
January 2025 in “Repository of Digital Objects for Teaching Research and Culture (University of Valencia)” Non-coding RNAs may be key in diagnosing and treating rare skin disorders.
8 citations
,
January 2022 in “Infectious diseases News Opinions Training” Genetic differences affect COVID-19 severity and treatment effectiveness.
10 citations
,
March 2021 in “Clinical Cosmetic and Investigational Dermatology” Certain gene variants are linked to severe acne, especially in males.
1 citations
,
September 2023 in “British journal of dermatology/British journal of dermatology, Supplement” WNT10A gene mutations cause short anagen hair syndrome.
January 1964 in “OSTI OAI (U.S. Department of Energy Office of Scientific and Technical Information)” CXCL7 is essential for muscle repair by aiding early neutrophil infiltration.
2 citations
,
July 2024 in “International Journal of Molecular Sciences” Csdc2 helps hair growth in cashmere goats by regulating specific genes.
January 2013 in “International Journal of Trichology” A new mutation in the TRPS1 gene was found in a Ukrainian girl with Trichorhinophalangeal syndrome type I.
February 2026 in “Frontiers in Medicine” Personalized sonidegib dosing can effectively treat Gorlin-Goltz syndrome with fewer side effects.
14 citations
,
May 2019 in “Human gene therapy” MC-DNA vector-based gene therapy can temporarily treat CBS deficiency in mice.
27 citations
,
April 2004 in “Biochemical and Biophysical Research Communications” Two new gene clusters important for hair formation were found on human chromosome 11.
60 citations
,
January 2021 in “BMC Genomics” The study mapped genetic variations in sheep, linking them to traits like milk production and growth.
72 citations
,
November 2012 in “PloS one” The protein folliculin, involved in a rare disease, works with another protein to control how cells stick together and their organization, and changes in this interaction can lead to disease symptoms.
477 citations
,
March 2004 in “Proceedings of the National Academy of Sciences” The DMI3 gene is essential for nodule development and symbiosis in certain plants.
January 2026 in “Therapeutics” SCUBE3 is a potential target for cancer and alopecia treatment but is challenging to target due to its varied roles.
61 citations
,
September 1994 in “Journal of Medical Genetics” Pachyonychia congenita is linked to a keratin gene on chromosome 17.
40 citations
,
June 2013 in “Scientific Reports” A gene variant in KRT71 causes the curly fur in Selkirk Rex cats.
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.
74 citations
,
October 2012 in “The American Journal of Human Genetics” Mutations in the HOXC13 gene cause hair and nail development issues.
19 citations
,
January 2015 in “Development” Hoxc8 gene helps start mammary gland development by controlling specific signals.
7 citations
,
May 2021 in “EBioMedicine” Increased methylation of the Filip1l gene may contribute to aggressive skin cancer.