91 citations
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May 2005 in “The Journal of Clinical Endocrinology & Metabolism” A new mutation in the human glucocorticoid receptor reduces its function and causes resistance to glucocorticoids.
Certain genetic variations are linked to hair loss in Mexican men.
76 citations
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April 2005 in “Cancer Epidemiology, Biomarkers & Prevention” E211 G>A gene linked to lower risk of severe prostate cancer and hair loss.
March 2011 in “Open Archive (Karolinska Institutet)” The mouse model showed defects in adult stem cell maintenance related to Hutchinson-Gilford progeria syndrome.
June 2020 in “Zenodo (CERN European Organization for Nuclear Research)” The DNMT3B -579G>T polymorphism may increase the risk of colorectal cancer.
85 citations
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March 2008 in “Journal of Cell Science” The mutation causing Hutchinson-Gilford progeria syndrome leads to severe skin problems and early death in mice.
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.
14 citations
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May 2017 in “Journal of Investigative Dermatology” A rare gene mutation causes skin fragility and itching without affecting hair or nails.
3 citations
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February 2019 in “Animal biotechnology” The PLP2 gene affects cashmere fiber quality in goats and is linked to hair growth and loss.
The document concludes that the development of certain tumors is influenced by genetic background and that a specific gene modification can lead to tumor regression and reduced growth.
412 citations
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January 1998 in “Science” A mutation in the human hairless gene causes alopecia universalis.
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.
27 citations
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June 2015 in “Journal of Investigative Dermatology” TRPV3 gene mutations cause Olmsted syndrome symptoms, but severity varies.
15 citations
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August 2022 in “The Application of Clinical Genetics” ABCD1 gene mutations cause adrenomyeloneuropathy, leading to symptoms like limb weakness and spasticity, with management focusing on rehabilitation and spasticity treatment.
8 citations
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May 2005 in “Fertility and Sterility” A specific gene variation is linked to a higher risk of polycystic ovary syndrome in Caucasian women.
12 citations
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January 2016 in “Journal of Orofacial Orthopedics / Fortschritte der Kieferorthopädie” Researchers found a new mutation in the EDA gene that likely causes missing teeth and mild skin symptoms in one family.
5 citations
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June 2023 in “BMC genomics” A specific gene mutation causes long hair in Angora rabbits.
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.
34 citations
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November 1998 in “Journal of Investigative Dermatology” A common mutation in the hHb6 gene is linked to monilethrix, but other factors may also play a role.
47 citations
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September 2002 in “Journal of Bone and Mineral Research” A mutation in the vitamin D receptor causes severe resistance to vitamin D, affecting bone health but not hair growth.
86 citations
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November 2015 in “Journal of Gastroenterology” The NUDT15 R139C variant causes thiopurine-induced leukocytopenia through a different mechanism than previously thought in Japanese patients with inflammatory bowel disease.
36 citations
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July 1988 in “Archives of Dermatological Research” Pili annulati is caused by a protein metabolism disorder affecting hair structure.
15 citations
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September 2018 in “Frontiers in Plant Science” BcFLA1 protein is crucial for root hair growth in response to low phosphate in Brassica carinata.
79 citations
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March 2005 in “Journal of Medical Genetics” A mutation in the hHb3 gene is linked to the hair disorder monilethrix.
October 2021 in “Postepy Dermatologii I Alergologii” No significant link was found between the studied genes and female hair loss in the Polish population.
Plakophilin 1 helps control skin cell immune responses to prevent excessive inflammation.
March 2011 in “European Urology Supplements” Gene variation affects prostate issues and hair loss.
March 2023 in “Journal of Cosmetic Dermatology” A genetic variant linked to hair thinning in Japanese women was found.
94 citations
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April 2002 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” A new gene mutation causes female pseudohermaphroditism due to glucocorticoid resistance.
8 citations
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January 2014 in “Indian Journal of Paediatric Dermatology” Congenital atrichia with papular lesions causes permanent hair loss and skin bumps from birth.