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    Research 121–150 of 463

    1. Machine learning driven multi-omics analysis of the genetic mechanisms behind the double-coat fleece formation in Hetian sheep Frontiers in Genetics · 2025 · 1 citations
    2. Recent advances in the molecular mechanisms causing primary generalized glucocorticoid resistance Hormones · 2016 · 15 citations
    3. Hair Follicle Pigmentation 2005 · 450 citations
    4. Dermal fibroblast in cutaneous development and healing Wiley Interdisciplinary Reviews-Developmental Biology · 2017 · 115 citations
    5. Mutations in γ-secretase subunit–encoding PSENEN underlie Dowling-Degos disease associated with acne inversa Journal of Clinical Investigation · 2017 · 87 citations
    6. Corneodesmosin gene ablation induces lethal skin-barrier disruption and hair-follicle degeneration related to desmosome dysfunction Journal of Cell Science · 2009 · 87 citations
    7. Critical Analysis on Characterization, Systemic Effect, and Therapeutic Potential of Beta-Sitosterol: A Plant-Derived Orphan Phytosterol Medicines · 2016 · 75 citations
    8. Birt–Hogg–Dubé syndrome: from gene discovery to molecularly targeted therapies Familial cancer · 2012 · 39 citations
    9. Targeting the Complexity of In Vitro Skin Models: A Review of Cutting-Edge Developments Journal of Investigative Dermatology · 2024 · 32 citations
    10. Werewolf, There Wolf: Variants in Hairless Associated with Hypotrichia and Roaning in the Lykoi Cat Breed Genes · 2020 · 27 citations
    11. Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016–2023) American Journal of Medical Genetics Part A · 2024 · 21 citations
    12. Foxn1 in Skin Development, Homeostasis and Wound Healing International Journal of Molecular Sciences · 2018 · 21 citations
    13. Somatic Mutations in Normal Tissues: New Perspectives on Early Carcinogenesis Annual Review of Cancer Biology · 2023 · 13 citations
    14. The Complexity of the Ovine and Caprine Keratin-Associated Protein Genes International journal of molecular sciences · 2021 · 10 citations
    15. A Concise Review of Organoid Tissue Engineering: Regenerative Applications and Precision Medicine Organoids · 2025 · 4 citations
    16. Highlights of Gene and Cell Therapy for Epidermolysis Bullosa and Ichthyosis Dermatology and Therapy · 2024 · 3 citations
    17. Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: e-Posters European Journal of Human Genetics · 2023 · 1 citations
    18. Global Impact of Coronavirus Disease 2019 (COVID-19) Health · 2022 · 1 citations
    19. 494 Epidermolysis bullosa pruriginosa, muscular dystrophy, and immune-mediated myasthenia gravis in a patient with homozygous nonsense PLEC mutation 2022
    20. 307 Phenotypic-genotypic expansion of plectinopathy in a patient with muscular dystrophy and immune-mediated myasthenia gravis 2022
    21. A case report of a novel homozygote mutation causing severe Leydig cell hypoplasia: insights in the coexistence of nonsense mutation and polymorphism in the same LHCGR gene locus Experimental and Clinical Endocrinology & Diabetes · 2012
    22. Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis Nature Genetics · 2009 · 181 citations
    23. Two New Unrelated Cases of Hereditary 1,25-Dihydroxyvitamin D-resistant Rickets with Alopecia resulting from the same Novel Nonsense Mutation in the Vitamin D Receptor Gene Journal of Pediatric Endocrinology and Metabolism · 2010 · 36 citations
    24. Alopecia areata in a rhesus monkey (Macaca mulatta) Journal of Medical Primatology · 2007 · 16 citations
    25. Apoptotic dysregulation mediates stem cell competition and tissue regeneration Nature Communications · 2023
    26. Case Report: Bi-allelic missense variant in the desmocollin 3 gene causes hypotrichosis and recurrent skin vesicles Frontiers in genetics · 2022
    27. Homozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi’s Granuloma: The Consequences of Skin Barrier Dysfunction International Journal of Molecular Sciences · 2015 · 16 citations
    28. Clinical and Immunological Phenotype of Patients With Primary Immunodeficiency Due to Damaging Mutations in NFKB2 Frontiers in immunology · 2019 · 98 citations
    29. Progress in Research and Prospects for Application of Precision Gene-Editing Technology Based on CRISPR–Cas9 in the Genetic Improvement of Sheep and Goats Agriculture · 2024
    30. Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases European Journal of Human Genetics · 2019 · 7 citations