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    1. Mandibulofacial dysostosis with alopecia results from ETAR gain-of-function mutations via allosteric effects on ligand binding Journal of Clinical Investigation · 2023 · 4 citations
    2. 889 Trpv3 gain-of-function mutation impairs differentiation of hair follicle inner root sheath 2019
    3. Cutaneous gain-of-function mutation of LRIG3 leads to alopecia by upregulation of ERBB, PI3K/AKT, NOTCH1 signaling pathways Scientific Reports · 2026
    4. Biological significance of FoxN1 gain-of-function mutations during T and B lymphopoiesis in juvenile mice Cell death and disease · 2014 · 16 citations
    5. <i>PIK3CA</i> gain-of-function mutation in Schwann cells leads to severe neuropathy and aerobic glycolysis through a non-cell autonomous effect Proceedings of the National Academy of Sciences · 2025
    6. Prediction of gain-of-function and loss-of-function mutations using Combined Annotation Dependent Depletion (CADD) 2017 · 1 citations
    7. Biochemical features of primary cells from a pediatric patient with a gain-of-function <i>ODC1</i> genetic mutation Biochemical Journal · 2019 · 15 citations
    8. Deciphering the function of canonical Wnt signals in development and disease: conditional loss- and gain-of-function mutations of β-catenin in mice Genes & Development · 2008 · 556 citations
    9. 1391 Immune cells may have a role in hair loss process caused by TRPV3 gain-of-function mutation Journal of Investigative Dermatology · 2018
    10. Hair Loss Caused by Gain-of-Function Mutant TRPV3 Is Associated with Premature Differentiation of Follicular Keratinocytes 2021 · 11 citations
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