January 2023 in “Zenodo (CERN European Organization for Nuclear Research)” An 8-year-old boy with neurofibromatosis type one also has rare hair and eye disorders.
11 citations
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July 2014 in “Gene” The S250C variant in a gene may cause autoimmunity and immunodeficiency by impairing protein function.
February 2026 in “bonndoc (University of Bonn)” New gene variants were found for rare skin and hair disorders, improving understanding and treatment.
9 citations
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June 2017 in “American journal of ophthalmology. Case reports” A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.
7 citations
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January 2015 in “Genetics and molecular research” The RORα gene is active in different parts of cashmere goat hair follicles and may be influenced by melatonin, especially in December when hair growth changes.
28 citations
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March 2010 in “British Journal of Dermatology” Genetic marker rs12558842 strongly linked to male hair loss.
2 citations
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February 2021 in “FEBS open bio” Human hair keratins K85 and K35 create unique filament patterns important for early hair formation.
March 2021 in “Medico-Legal Update” The androgen receptor gene doesn't affect women with recurrent spontaneous abortions, but having a mutant genotype might protect against it.
221 citations
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July 2012 in “Proceedings of the National Academy of Sciences of the United States of America” BMAL1 controls skin cell growth and UV damage risk, peaking at night.
28 citations
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November 2018 in “Journal of cellular physiology” miR-124 helps mouse hair follicle stem cells become nerve cells by blocking Ptbp1 and Sox9.