August 2023 in “Frontiers in Endocrinology” Mutations in mitochondrial DNA might significantly contribute to the development of Polycystic Ovarian Syndrome.
April 2015 in “Experimental Dermatology” Melanoma risk tools need improvement, certain gene mutations cause skin diseases and could be treated by targeting those mutations, skin wrinkling may relate to lung aging due to genetic factors, and oxidative stress affects hair loss but can be reduced in low oxygen.
21 citations
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March 2003 in “Clinical and Experimental Dermatology” Mutations in the hHb6 gene cause the hair disorder monilethrix.
May 2018 in “The journal of immunology/The Journal of immunology” Mutations in the FOXN1 gene cause severe immune issues but don't affect hair and nails.
5 citations
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February 2019 in “The New England Journal of Medicine” Certain mutations in the PADI3 gene may increase the risk of developing a type of scarring hair loss common in women of African descent.
The 1298CC genotype in RA patients leads to higher methotrexate toxicity, while the 1298AA genotype results in better treatment response.
4 citations
,
January 2017 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.
11 citations
,
April 2019 in “Bioscience Reports” Certain genetic variations in the RAB5B gene are linked to a higher risk of polycystic ovary syndrome in Chinese Han women.
7 citations
,
May 2021 in “EBioMedicine” Increased methylation of the Filip1l gene may contribute to aggressive skin cancer.
10 citations
,
December 2008 in “Molecular Carcinogenesis” The PML protein helps prevent skin cancer in mice.
80 citations
,
June 1997 in “The American Journal of Human Genetics”
2 citations
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October 1990 in “The Lancet” Some people have a genetic variation that makes them less effective at breaking down drugs.
January 1999 in “Praxis sociológica” Melanocyte stem cells can become melanoma, resembling human melanoma.
88 citations
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August 1998 in “Carcinogenesis” High levels of ODC and a mutant Ha-ras gene cause tumors in mice.
95 citations
,
February 2019 in “The New England Journal of Medicine” Mutations in the PADI3 gene are linked to a higher risk of scarring hair loss in women of African descent.
2 citations
,
June 2023 in “Journal of cell science” Mutations in iRhom2 affect hair and skin in mice and are linked to esophageal cancer, with ADAM17 playing a crucial role.
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.
60 citations
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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.
Deleting the MAD2L1 gene is tolerated in certain mouse cancer models.
29 citations
,
July 2015 in “Journal of Medical Genetics” A genetic variant in the KRT25 gene causes tightly curled hair.
36 citations
,
July 2014 in “Neuromuscular Disorders” A patient with a larger than usual genetic mutation had a broader range of symptoms for a muscle disease.
23 citations
,
March 2017 in “JAAD case reports” The document suggests a possible link between FAM111B gene mutations and increased cancer risk, particularly pancreatic cancer.
9 citations
,
May 2014 in “BMC medical genetics” A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.
A specific gene change in APCDD1 increases the risk of hair loss.
47 citations
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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.
November 2022 in “Journal of Investigative Dermatology” Some people with schwannomatosis have a new type of mutation in the LZTR1 gene.
October 2024 in “Journal of the Endocrine Society” A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requiring high doses of calcium and vitamin D for treatment.
September 2017 in “Journal of Investigative Dermatology” LRIG1 protein affects hair growth by regulating skin receptors, leading to hair loss when overexpressed.
6 citations
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July 2005 in “Acta Ophthalmologica Scandinavica” Mitochondriopathy may cause eyelash loss.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Deleting the CD271 gene in mouse skin cells leads to disorganized skin and increased hair growth, suggesting CD271 is important for skin health.