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November 1995 in “Postgraduate medical journal” A Saudi individual initially identified as a girl had a genetic disorder affecting gender development.
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July 2019 in “PLOS ONE” Certain genetic variations are linked to higher liver enzyme levels in patients treated for chronic hepatitis C with specific drugs.
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August 1991 in “Molecular Endocrinology” Human adrenals and gonads have a unique enzyme for steroid hormone production.
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February 1998 in “The journal of investigative dermatology/Journal of investigative dermatology” Two specific hair keratin genes are active during hair growth and decline as hair transitions to rest.
April 2026 in “Zenodo (CERN European Organization for Nuclear Research)” The model improves understanding of androgen interactions by focusing on signal intensity and system capacity.
September 2024 in “Journal of Medicine and Life” A specific gene mutation causes a severe skin disorder in a family.
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January 2004 in “Molecular and Cellular Biology” XEDAR deficiency prevents muscle degeneration in EDA-A2 transgenic mice.
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January 2020 in “Benha Journal of Applied Sciences” Certain gene variations may increase the risk and severity of alopecia areata.
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June 2019 in “Twin research and human genetics” The 25Up study collected extensive data on mental disorders and related factors in Australian twins and siblings to investigate the genetics of psychiatric illnesses.
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May 2011 in “The Journal of Dermatology” A man had two rare autoimmune diseases that might be connected.
December 2023 in “Forensic science international. Genetics” The RapidHIT ID system can effectively get DNA profiles from hair roots with enough cells.
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June 1997 in “The American Journal of Human Genetics” January 2025 in “Reactions Weekly” November 2024 in “Reactions Weekly” May 2023 in “Reactions Weekly” 99 citations
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March 2013 in “Journal of Investigative Dermatology” Mutations in the ABCB6 gene cause Dyschromatosis Universalis Hereditaria.
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January 2013 in “Hormone and Metabolic Research” The severity of symptoms in nonclassical congenital adrenal hyperplasia is not determined by CYP21A2 gene variations.
January 2025 in “Research” Cellular senescence can both hinder and promote hair growth, suggesting new ways to treat hair loss.
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March 2005 in “Journal of The American Academy of Dermatology” October 2024 in “Journal of the Endocrine Society” A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requires high doses of calcium and vitamin D for management.
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July 2015 in “EMBO Reports” Tmem50b and 2610305D13Rik genes play key roles in early mouse embryo development.
December 2019 in “Reproduction Fertility and Development” A new method helps grow skin stem cells better, which could improve skin grafts for burn victims.
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July 2017 in “International journal of endocrinology and metabolism/International journal of endocrinology and metabolism.” Two siblings with a genetic mutation had a form of rickets that doesn't respond to vitamin D.
August 2019 in “Carolina Digital Repository (University of North Carolina at Chapel Hill)” DHT enhances androgen receptor activity more than testosterone, and MAGE-11 influences this activity through specific interactions.
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October 2000 in “Journal of Investigative Dermatology” The Thr1022Ala variant in the hairless gene is not a disease-causing mutation.