45 citations
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January 2012 in “The Journal of Steroid Biochemistry and Molecular Biology” Too much AKR1C3 enzyme causes resistance to finasteride by increasing testosterone.
28 citations
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November 2018 in “American Journal of Medical Genetics Part A” ODC1 gene mutations cause a neurodevelopmental disorder with large head size, hair loss, and facial abnormalities.
November 2024 in “Journal of Investigative Dermatology” Adrenomedullin 2 stops cell growth and causes cell death in human hair follicles.
1 citations
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September 2021 in “Journal of Cosmetic Dermatology” Certain gene variations may increase the risk of hair loss in Egyptians.
71 citations
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June 2005 in “Journal of Investigative Dermatology” PAD enzymes play a key role in hair growth and structure.
January 2001 in “Biomedical Research” THH and PAD type III appear together early in hair growth, but deiminated THH appears later, suggesting another factor is involved.
2 citations
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June 2013 in “Journal of Clinical Pathology” The LMNA mutation affects skin structure even in asymptomatic carriers.
13 citations
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February 2012 in “International Journal of Dermatology” A new genetic mutation in the CDH3 gene causes hair loss and eye problems in young people.
1 citations
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June 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” GTL1 is needed to control root hair growth and prevent problems when there are too many nutrients.
260 citations
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July 2010 in “Cell” Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.
Farudodstat may effectively treat alopecia areata by protecting hair follicles without harmful effects.
7 citations
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April 2020 in “JIMD Reports” ATP6AP1‐CDG can cause hearing loss, hair loss, and protein issues, even in female carriers.
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.
January 2026 in “Frontiers in Bioscience-Landmark” Araliadiol protects skin cells from damage by boosting antioxidant defenses.
15 citations
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June 2019 in “Biochemical Journal” A new genetic disorder caused by an ODC1 mutation can be treated with DFMO.
199 citations
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April 2010 in “Nature” A gene called APCDD1, which controls hair growth, is found to be faulty in a type of hair loss called hereditary hypotrichosis simplex.
41 citations
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December 2011 in “The journal of investigative dermatology/Journal of investigative dermatology” Deleting MED1 in skin cells causes hair loss and skin changes.
April 2026 in “Inflammation and Regeneration” AKR1C enzymes in scalp glands decrease with age, possibly affecting hair loss.
60 citations
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March 2006 in “Journal of Medical Genetics” A mutation in the KRTHB5 gene causes hair and nail issues.
1 citations
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April 2025 in “Pediatria i Medycyna Rodzinna” Restoring EDA and WNT pathways early may help improve skin, hair, and teeth issues in hypohidrotic ectodermal dysplasia.
258 citations
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July 2005 in “Journal of lipid research” DGAT1 enzyme helps make diacylglycerols, waxes, and retinyl esters.
A new genetic mutation was found causing hair and eye issues in a boy.
June 2025 in “Molecular Genetics & Genomic Medicine” Severe genetic variants in children with a specific adrenal condition match predicted symptoms well, but milder variants do not.
January 1996 in “Studia iuridica” Two new gene mutations cause a rare hair disorder.
November 2022 in “Journal of Investigative Dermatology” NCSTN gene mutation causes abnormal skin cell differentiation and more inflammation, contributing to Hidradenitis Suppurativa.
August 2020 in “Pakistan Journal of Zoology” A new mutation in the Hairless gene causes hair loss in two Pakistani families.
30 citations
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June 2016 in “Journal of Human Genetics” Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.
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.
17 citations
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August 2012 in “Journal of Medical Genetics” A new mutation in the XEDAR gene might cause a rare skin condition called hypohidrotic ectodermal dysplasia.