6 citations
,
November 2019 in “The application of clinical genetics” The study found that a specific genetic variation in the TNFα gene is significantly linked to Alopecia Areata in the Jordanian Arab population.
30 citations
,
July 2019 in “Endocrinology” Certain HSD3B1 gene types are linked to worse prostate cancer outcomes and affect treatment response and other health conditions.
19 citations
,
July 2020 in “EBioMedicine” A gene variant increases the risk of a type of hair loss by affecting hair protein production.
29 citations
,
February 2001 in “Proceedings of the National Academy of Sciences” A specific DNA region controls skin cell gene expression by working with certain proteins.
3 citations
,
July 2022 in “Brain and Behavior” The HtrA1L364P mutation causes brain dysfunction and blood vessel damage.
30 citations
,
December 2011 in “Journal of biological chemistry/The Journal of biological chemistry” Keratin 17 is modified by RSK1 in response to growth and stress, affecting skin growth and stress response.
3 citations
,
March 2014 in “Journal of Industrial Microbiology & Biotechnology” Scientists found a new gene in a bacterium that can modify an immunosuppressant drug, potentially helping to treat hair loss.
May 2024 in “JAMA Dermatology” Oral contraceptive use may increase the risk of frontal fibrosing alopecia in women with a specific CYP1B1 gene variant.
2 citations
,
January 2024 in “Revista Paulista de Pediatria” A rare genetic mutation caused severe symptoms in a 6-year-old girl with mandibuloacral dysplasia type A.
March 2025 in “American Journal of Medical Genetics Part A” A rare genetic variant linked to skin cysts was found in blood DNA, suggesting its role in cyst formation.
11 citations
,
April 2012 in “Journal of Investigative Dermatology” A specific mutation in PA-PLA1α causes abnormal hair growth.
8 citations
,
October 2019 in “Immunological investigations” The AIRE gene variant rs2075876 is linked to a higher risk of alopecia areata in males.
A rare genetic mutation causes Woodhouse-Sakati syndrome symptoms.
26 citations
,
March 2006 in “Endocrine, metabolic & immune disorders. Drug targets” This enzyme helps metabolize fatty acids and isoleucine, and could be key in treating neurological diseases and certain cancers.
9 citations
,
March 2018 in “European journal of dermatology/EJD. European journal of dermatology” A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.
7 citations
,
December 2015 in “International Journal of Dermatology” New and known mutations in the hairless gene cause a hair loss condition called Atrichia with papular lesions.
January 2022 in “Mammalian Genome” The wavy coat in NCT mice is caused by multiple genes, including a mutation in the Prss53 gene.
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.
7 citations
,
July 2020 in “Immunological Investigations” The rs231775 genetic variant is linked to a higher risk and severity of Alopecia Areata in males.
November 2025 in “Journal of Investigative Dermatology” A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.
July 2005 in “The American Journal of Human Genetics” The AR gene is linked to male-pattern baldness, TNFSF4 to heart disease, SLC19A3 to BBGD, MCT8 to a syndrome, and segmental duplications to genetic variation.
2 citations
,
March 2016 in “Serbian Journal of Dermatology and Venerology” A six-year-old boy with excessive hair growth and other symptoms may have a genetic link on chromosome 17q, requiring regular medical follow-ups.
17 citations
,
August 2018 in “BMC Genomics” The HOXC13 gene affects different hair proteins in cashmere goats in varied ways and is controlled by a feedback loop and other factors.
199 citations
,
April 2010 in “Nature” A gene called APCDD1, which controls hair growth, is found to be faulty in a type of hair loss called hereditary hypotrichosis simplex.
January 2026 in “Animal Genetics” A genetic variant in the GJB6 gene likely caused the Labrador's paw pad condition.
September 2022 in “Indian Journal of Paediatric Dermatology” Clouston syndrome is inherited in an autosomal dominant pattern and caused by a specific gene mutation, with no current treatment available.
8 citations
,
January 2015 in “Genetics and Molecular Research” Certain gene variations increase the risk of alopecia areata in Koreans.
70 citations
,
April 2014 in “Annales d'endocrinologie” New genes and pathways are important for testosterone production and male sexual development.
1 citations
,
January 2020 in “Benha Journal of Applied Sciences” Certain gene variations may increase the risk and severity of alopecia areata.
7 citations
,
January 2011 Collagen XVIII is crucial for maintaining tissue structure and function in the brain, kidneys, and hair.