30 citations
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January 2021 in “Journal of Clinical Immunology” FOXN1 mutations can cause varying immune and physical issues, with severity influenced by gene activity and possibly other factors.
March 2017 in “European Urology Supplements” Gene differences affect finasteride side effects in men with hair loss.
3 citations
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March 2016 in “Experimental Dermatology” A mutation in the hairless gene speeds up severe itchy skin in mice on a special diet.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A patient with a PLEC mutation has epidermolysis bullosa, muscular dystrophy, and myasthenia gravis, which improved with steroid treatment.
March 2023 in “JAAD case reports” A new genetic change in the keratin 10 gene caused a skin condition called ichthyosis hystrix in a father and his daughter.
8 citations
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January 2011 in “International journal of trichology” Accurate diagnosis of APL is crucial to avoid unnecessary treatments.
September 2025 in “Indian Journal of Dermatology” A Turkish woman has a hair condition caused by a LIPH gene mutation.
1 citations
,
April 2018 in “Journal of Investigative Dermatology” The Trichodysplasia spinulosa virus protein can cause abnormal hair growth in mice.
5 citations
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August 2012 in “Experimental Dermatology” Artemis phosphorylation at Ser516 may help regulate skin and hair structures.
April 2018 in “Journal of Investigative Dermatology” The research found that blocking a gene called NEMO can potentially prevent harmful effects of aging at the cellular level.
September 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” The Kras mutation changes normal cell signals, leading to disrupted tissue structure and potential cancer.
December 2021 in “OPAL (Open@LaTrobe) (La Trobe University)” Disrupting the Hars2 gene in mice causes hearing loss due to mitochondrial problems and hair cell damage.
32 citations
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August 2020 in “American Journal Of Pathology” S100A4 promotes aggressive ovarian cancer and is a potential treatment target.
89 citations
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August 2008 in “Human genetics” The EDAR gene greatly affects hair thickness in Asian populations.
88 citations
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March 2004 in “Journal of Investigative Dermatology”
January 2002 in “Proceedings of The Japanese Society of Animal Models for Human Diseases” Keratin2-6g is crucial for hair follicle development, with mutations causing cell degeneration and vacuolation.
13 citations
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November 2018 in “Animal Genetics” A new gene variant causes curly coats in some dog breeds.
13 citations
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April 2018 in “Scientific Reports” The genes KRT25 and SP6 affect curly hair in horses, with KRT25 also causing hair loss. If both genes are mutated, the horse gets curly hair and hair loss. KRT25 can hide the effect of SP6.
April 2023 in “Journal of Investigative Dermatology” Mutations in the SHH pathway in certain skin cells can cause skin tumors and abnormal hair growth.
Matriptase-2 helps control iron levels by suppressing hepcidin, and its deficiency can cause iron-deficiency anemia.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” A girl with excessive hair growth had a genetic change on chromosome 17 that reduced the activity of two genes linked to hair growth.
98 citations
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June 2001 in “Journal of biological chemistry/The Journal of biological chemistry” A cluster of sulfur-rich hair protein genes was found on chromosome 17.
31 citations
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May 2021 in “Journal of endocrinological investigation” APS-1 in Italy shows diverse AIRE mutations and various autoimmune issues.
Loss of the p53 gene alone causes tumors, and losing both p53 and Rb genes speeds up aggressive skin cancer.
March 2024 in “Dermatology and therapy (Internet)” Genetic factors could lead to personalized treatments for hair loss.
245 citations
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January 1998 in “Genes & Development” Hoxc13 gene is essential for hair, nail, and papilla development.
October 2024 in “Journal of the Endocrine Society” Ayme-Gripp Syndrome was confirmed in a woman through genetic testing, highlighting the need to consider rare genetic conditions in diagnoses.
260 citations
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July 2010 in “Cell” Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.
10 citations
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November 2017 in “Journal of Investigative Dermatology” A mutation in the FAM83G gene is linked to skin and hair abnormalities in two related individuals.
12 citations
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June 2020 in “Frontiers in Cell and Developmental Biology” The PP2A-B55α protein is essential for brain and skin development in embryos.