30 citations
,
January 2013 in “Human Mutation” A mutation in the HOXC13 gene causes hair and nail problems in a Syrian family.
2 citations
,
November 1996 in “PubMed” Most people have similar hair protein patterns, but a rare variant was found in two women.
11 citations
,
September 2012 in “The journal of investigative dermatology/Journal of investigative dermatology” A mutation in the KRT71 gene causes a hair disorder by disrupting hair follicle structure and texture.
June 2024 in “British Journal of Dermatology” A rare case of a transplant patient developing a skin condition linked to HPV-49.
April 2023 in “Anatomy Physiology & Biochemistry International Journal” PCOS in women from Karnataka is influenced by genetics, family history, and insulin resistance, requiring better diagnosis and treatment.
2 citations
,
November 2019 in “Journal für Klinische Endokrinologie und Stoffwechsel” PCOS is a common hormonal disorder in women, treated with lifestyle changes and hormonal therapy.
January 2023 in “International Journal of Zoological Investigations” Certain genetic variations in IL-16 may increase the risk of alopecia areata.
November 2020 in “Journal of The American Academy of Dermatology” The conclusion is that many small genetic variations influence claw disorders in cows, and using genomic selection could help reduce these disorders.
January 2024 in “Wiadomości Lekarskie” Pemigatinib may be effective for treating ZMYM2::FGFR1 fusion-positive leukemia.
30 citations
,
January 1994 Strain H61 may reduce some ageing symptoms like bone loss and hair loss.
3 citations
,
May 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Skin lesions in Carney Complex are caused by a gene change in some skin cells that leads to increased pigmentation and may lead to tumors.
44 citations
,
July 2013 in “Journal of the American Academy of Dermatology” Poliosis circumscripta is a patch of white hair caused by lack of melanin, linked to genetic and acquired conditions.
60 citations
,
August 2008 in “Human molecular genetics online/Human molecular genetics” A position effect on the TRPS1 gene causes excessive hair growth in humans and mice.
20 citations
,
October 2005 in “Archives of Dermatological Research”
September 2021 in “International Journal of Biomedicine” Certain gene variations are linked to a higher risk of severe acne, suggesting a genetic influence on the condition.
April 2018 in “Journal of Investigative Dermatology” Screening for the NUDT15 gene variant can prevent severe side effects from thiopurine drugs in East-Asian people.
4 citations
,
October 2024 in “Heliyon” CYP154C7 enzyme can effectively modify steroids and is promising for commercial use.
8 citations
,
October 2019 in “Immunological investigations” The AIRE gene variant rs2075876 is linked to a higher risk of alopecia areata in males.
July 2025 in “Human Genomics” New LSS gene variants help understand congenital hypotrichosis 14 better.
42 citations
,
October 2009 in “The journal of investigative dermatology/Journal of investigative dermatology” Mutations in the KRT85 gene cause hair and nail problems.
21 citations
,
January 1995 in “Molecular Biology Reports” Scientists discovered two versions of a new human hair keratin gene.
47 citations
,
December 2019 in “Frontiers in immunology” A new mutation in the STING protein causes a range of symptoms and its severity may be affected by other genetic variations; treatment with a specific inhibitor showed improvement in one patient.
14 citations
,
January 2025 in “Reproductive Medicine and Biology” PCOS diagnosis and treatment should consider race and ethnicity for accuracy.
October 2024 in “Journal of the Endocrine Society” Certain genetic variants impair enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
29 citations
,
October 2016 in “Cell death and differentiation” ΔNp63α stops TAp73β from working in skin cancer by blocking its access to specific genes, not by directly interacting with it.
27 citations
,
June 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” The study found that variations in hair protein genes are likely due to evolutionary deletions or duplications.
8 citations
,
December 2016 in “Hormone Research in Paediatrics” Tunisian children with hereditary vitamin D-resistant rickets showed improvement with calcium treatment, and new genetic mutations were identified.
January 2000 in “The Mouseion at the JAXlibrary (Jackson Laboratory)” The lanceolate hair-J mutation in mice helps understand human hair disorders like Netherton's syndrome.
16 citations
,
September 2014 in “International Journal of Biological Markers” Longer CAG and GGN repeats increase alopecia risk, but no significant link to post-finasteride syndrome found.
January 2008 in “Yearbook of Dermatology and Dermatologic Surgery” Scientists can make stem cells that can turn into any cell type.