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    Research 10

    1. Molecular determinants for the chemical activation of the warmth-sensitive TRPV3 channel by the natural monoterpenoid carvacrol Journal of Biological Chemistry · 2022 · 24 citations
    2. EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency European Journal of Human Genetics · 2020 · 94 citations
    3. Perturbations in fatty acid metabolism and collagen production infer pathogenicity of a novel MBTPS2 variant in Osteogenesis imperfecta Frontiers in endocrinology · 2023 · 1 citations
    4. In silico investigation of possible multi-target drugs against Glutamate S-transferase and prolyl tRNA synthetase in Onchocerca volvulus Open Access Research Journal of Biology and Pharmacy · 2026
    5. Mutational spectrum of EDA, EDAR, EDARADD, and WNT10A genes in the largest cohort of Russian patients with hypohidrotic ectodermal dysplasia Orphanet Journal of Rare Diseases · 2026
    6. Repurposing FDA approved drugs for psoriasis indications through integrated molecular docking, one-SVM algorithm, and molecular dynamics simulation approaches Scientific Reports · 2025
    7. TRPV3 Ion Channel: From Gene to Pharmacology International Journal of Molecular Sciences · 2023 · 2 citations
    8. Myricetin: A Significant Emphasis on Its Anticancer Potential via the Modulation of Inflammation and Signal Transduction Pathways International Journal of Molecular Sciences · 2023 · 54 citations
    9. Mutations in SNRPE, which Encodes a Core Protein of the Spliceosome, Cause Autosomal-Dominant Hypotrichosis Simplex The American Journal of Human Genetics · 2012 · 39 citations
    10. A novel <i>MBTPS2</i> variant associated with BRESHECK syndrome impairs sterol‐regulated transcription and the endoplasmic reticulum stress response American Journal of Medical Genetics Part A · 2021 · 5 citations