140 citations
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April 2004 in “The journal of investigative dermatology/Journal of investigative dermatology” The enzyme 25 Hydroxyvitamin D 1 α-Hydroxylase is essential for healthy skin and recovery after skin damage.
December 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” Stress can cause a type of hair loss in mice lacking the CCHCR1 gene.
3 citations
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January 2017 in “Yonsei Medical Journal” Blocking 11β-HSD1 can lessen the harmful effects of glucocorticoids on hair growth cells.
January 2017 in “Elsevier eBooks” Congenital Adrenal Hyperplasia is mainly caused by enzyme deficiencies, leading to varying symptoms like hormone imbalances and physical changes.
1 citations
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October 2025 in “Journal of Allergy and Clinical Immunology” A JAK1 variant causes hair loss, skin issues, and thyroid disease, but treatment with a specific inhibitor can help.
5 citations
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May 2022 in “Diagnostics” Certain genetic markers can indicate higher or lower risk for systemic lupus erythematosus.
2 citations
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February 1990 in “PubMed” DDR-II hair follicle cells don't respond to 1, 25-dihydroxyvitamin D3, aiding diagnosis.
March 2011 in “European Urology Supplements” Gene variation affects prostate issues and hair loss.
79 citations
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December 1999 in “Mechanisms of Development” Whn is crucial for hair growth in certain areas by controlling a specific gene.
10 citations
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May 2017 in “Wound Repair and Regeneration” Overexpression of ALK2 in hair follicles disrupts skin development and slows wound healing.
December 2022 in “American journal of medical genetics. Part A” A person got uncombable hair syndrome from two copies of chromosome 1 from their mother.
132 citations
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August 2008 in “Development” Dlx3 is essential for hair growth and regeneration.
15 citations
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November 2012 in “Archives of Ophthalmology” A deletion in the CDH3 gene causes a rare disorder with short hair and vision loss.
April 2026 in “Frontiers in Medicine” Farudodstat may help prevent hair loss in alopecia areata by stopping immune attacks on hair follicles.
January 2008 in “HAL (Le Centre pour la Communication Scientifique Directe)” The mutant HR bmh protein affects hair follicle formation by failing to repress vitamin D receptor activity.
8 citations
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June 2001 in “Journal of Biological Chemistry” A truncated protein linked to breast cancer may change cell adhesion.
7 citations
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January 2015 in “Case reports in genetics” Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.
25 citations
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August 2014 in “Endocrinology” Researchers created a mouse model of a type of rickets that does not cause hair loss.
48 citations
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November 2002 in “Journal of biological chemistry/The Journal of biological chemistry” Genetic variations in hair keratin proteins exist but don't significantly affect hair structure.
July 2022 in “Journal of Investigative Dermatology” Arg1+ macrophages may play a role in Alopecia Areata, offering new treatment targets.
845 citations
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February 2001 in “The Journal of Clinical Endocrinology & Metabolism” The enzyme for activating vitamin D is found in many body tissues, not just the kidneys.
10 citations
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February 2008 in “Photochemistry and photobiology” Vitamin D receptor can control the hairless gene linked to hair loss even without vitamin D.
10 citations
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March 2014 in “Scandinavian journal of clinical and laboratory investigation” Malondialdehyde-modified DNA may trigger an immune response in alopecia areata patients.
48 citations
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September 2011 in “British Journal of Dermatology” Epigenetic changes in blood cells may contribute to alopecia areata.
4 citations
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July 2020 in “Biochemical and Biophysical Research Communications” A protein called ectodysplasin-A2 increases a hair growth inhibitor in balding cells, which could be a target for hair loss treatment.
March 2014 in “Chinese Journal of Dermatology” Hair loss in androgenic alopecia patients is linked to changes in certain genes that control cell growth and death.
20 citations
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April 2014 in “Autoimmunity” A specific gene variant (rs4833095) is linked to a higher risk of alopecia areata in Koreans.
130 citations
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January 2000 in “Nature biotechnology”
6 citations
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October 2014 in “Experimental Dermatology” Prostaglandins and the enzyme AKR1C3 could play a role in skin cancer and hair loss, and further research is needed to understand these mechanisms.
18 citations
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November 2009 in “Calcified tissue international” A genetic mutation caused severe rickets and alopecia in an Indian patient, but high-dose calcium and phosphate treatment improved their condition.