29 citations
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January 1996 in “The Journal of Clinical Endocrinology & Metabolism” A genetic mutation in a specific gene causes a salt-wasting condition in a Pakistani girl and her family.
3 citations
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September 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Keratin 75 is important for fast wound healing and works with SOX2 and the LINC complex to help skin cells move and repair damage.
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.
7 citations
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July 2008 in “Experimental Dermatology” The study concluded that a protein important for hair strength is regulated by certain molecular processes and is affected by growth phases.
August 2025 in “International Journal of Contemporary Pediatrics” HLD10 can include increased body hair and Mongolian spots.
45 citations
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January 1977 in “Advances in experimental medicine and biology” Hair follicles have an enzyme that converts arginine to citrulline in proteins.
11 citations
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April 1982 in “Journal of the Forensic Science Society” Enzyme presence in hair sheath cells decreases over time, affecting forensic analysis.
6 citations
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January 2015 in “Biochemical Society Transactions” The Ysc84/SH3yl1 protein family is important for cell movement and the process of taking in materials by interacting with actin and cell membranes.
March 2026 in “Folia Histochemica et Cytobiologica” LTBP1 is a key regulator in diseases and a potential target for new treatments.
1 citations
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April 2016 in “Journal of lipid research” Lipin-1 is important for skin cell differentiation and skin barrier function.
1 citations
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January 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” Increased PHGDH expression causes early melanin buildup in hair follicles.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” The research identified unique metabolic activities in immune cells associated with hair loss in Alopecia Areata.
132 citations
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February 2002 in “Journal of Biological Chemistry” HOXC13 is crucial for regulating hair keratin genes in hair follicles.
January 2005 in “Life sciences” Targeting LPA could help treat skin disorders.
29 citations
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June 2018 in “Scientific Reports” 15-lipoxygenase helps keep skin healthy by reducing inflammation.
15 citations
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January 1991 in “Mammalian Genome”
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July 2014 in “Journal of biological chemistry/The Journal of biological chemistry” Heparan sulfate is important for hair growth, preventing new hair formation in mature skin, and controlling oil gland development.
6 citations
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July 2021 in “Frontiers in Genetics” A gene variant causes a skin and hair disorder by disrupting protein balance.
194 citations
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November 2006 in “Science” A genetic mutation in the LIPH gene causes hair loss and growth defects.
September 2017 in “Journal of Investigative Dermatology” LRIG1 protein affects hair growth by regulating skin receptors, leading to hair loss when overexpressed.
98 citations
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November 2014 in “PLoS ONE” Hyaluronidase speeds up wound healing and reduces inflammation.
9 citations
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October 2013 in “Journal of Investigative Dermatology” The OVOL1 gene, controlled by β-catenin, is crucial for creating hair follicles.
November 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” Dermal EZH2 controls skin cell growth and differentiation in mice.
September 2025 in “JCEM Case Reports” Consider rare forms of CAH for accurate diagnosis and treatment.
November 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” MOF controls skin development by regulating genes for mitochondria and cilia.
29 citations
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July 2004 in “The journal of investigative dermatology/Journal of investigative dermatology” The enzymes Aldh1a2 and Aldh1a3 are involved in making retinoic acid in hair follicles and have different roles in hair growth.
1 citations
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May 2013 in “Hair transplant forum international” Non-classical 21 hydroxylase deficiency is an underdiagnosed cause of female hair loss and polycystic ovarian syndrome.
92 citations
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May 2004 in “Journal of Investigative Dermatology” 13 citations
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June 2006 in “Fertility and Sterility” Nonclassic 21-hydroxylase deficiency is a common, treatable genetic disorder causing reversible symptoms like acne and hair loss.
January 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” The mutant HR bmh protein mis-localizes in cells, affecting skin and hair development.