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    Glossary U2HR Mutation

    genetic alteration affecting hair growth regulation, potentially causing alopecia

    The U2HR mutation refers to a specific genetic alteration in the U2HR (U2 Hairless Repressor) gene, which is involved in the regulation of hair growth. This mutation can disrupt normal hair follicle function, potentially leading to conditions like alopecia, where hair loss occurs. For professionals, it's important to note that the U2HR gene plays a role in the signaling pathways that control hair follicle cycling and differentiation.

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    Research 22

    1. Marie Unna hereditary hypotrichosis: Identification of a U2HR mutation in the family from the original 1925 report Journal of the American Academy of Dermatology · 2011 · 14 citations
    2. Marie Unna hereditary hypotrichosis: A Turkish family with loss of eyebrows and a <i>U2HR</i> mutation American Journal of Medical Genetics - Part A · 2010 · 11 citations
    3. Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis Nature Genetics · 2009 · 181 citations
    4. Identification of a novel heterozygous mutation in the first Japanese case of Marie Unna hereditary hypotrichosis The Journal of Dermatology · 2013 · 6 citations
    5. Marie-unna hereditary hypotrichosis International Journal of Trichology · 2014 · 4 citations
    6. Odd-Looking Hair and Progressive Alopecia in Mother and Son JAMA Dermatology · 2014
    7. Two females with hair loss Journal der Deutschen Dermatologischen Gesellschaft · 2019
    8. Clinical course of the first Japanese family with Marie Unna hereditary hypotrichosis: a follow-up report European Journal of Dermatology · 2018
    9. Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families Human Genetics · 2010 · 40 citations
    10. A TP63 Mutation Causes Prominent Alopecia with Mild Ectodermal Dysplasia 2020 · 2 citations
    11. A Missense Mutation within the Helix Initiation Motif of the Keratin K71 Gene Underlies Autosomal Dominant Woolly Hair/Hypotrichosis Journal of Investigative Dermatology · 2012 · 78 citations
    12. Molecular Genetics of Alopecias Current problems in dermatology · 2015 · 9 citations
    13. Disease causing homozygous variants in the human hairless gene International Journal of Dermatology · 2015 · 7 citations
    14. Alopezien und Hypotrichosen im Kindesalter Der Hautarzt · 2014 · 5 citations
    15. Current Genetics in Hair Diseases InTech eBooks · 2013 · 1 citations
    16. Recalcitrant Female Pattern Hair Loss Like Alopecia Unveils Unexpected Rare Entity Clinical Cosmetic and Investigational Dermatology · 2025
    17. Biology and Genetics of Hair Annual Review of Genomics and Human Genetics · 2010 · 89 citations
    18. Inherited Disorders of the Hair Elsevier eBooks · 2013 · 2 citations
    19. Genetic Hair Disorders: A Review Dermatology and Therapy · 2019 · 26 citations
    20. Hair loss and its management in children Expert Review of Dermatology · 2011 · 5 citations
    21. Development of squamous cell carcinoma from erythroplasia of Queyrat following photodynamic therapy European Journal of Dermatology · 2018 · 3 citations
    22. Pili Torti: A Feature of Numerous Congenital and Acquired Conditions Journal of clinical medicine · 2021 · 9 citations