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    Research 30 of 553

    1. Impaired Hair Follicle Morphogenesis and Cycling with Abnormal Epidermal Differentiation in nackt Mice, a Cathepsin L-Deficient Mutation American Journal Of Pathology · 2002 · 57 citations
    2. Disruption of the temporally regulated cloaca endodermal β-catenin signaling causes anorectal malformations Cell death and differentiation · 2014 · 36 citations
    3. Prediction of gain-of-function and loss-of-function mutations using Combined Annotation Dependent Depletion (CADD) 2017 · 1 citations
    4. PCSK9: From Nature’s Loss to Patient’s Gain Circulation · 2024
    5. 457 Impact of alpha-melanocyte-stimulating hormone on mitochondrial function in human dermal fibroblasts Journal of Investigative Dermatology · 2025
    6. Deficient Plakophilin-1 Expression Due to a Mutation in PKP1 Causes Ectodermal Dysplasia-Skin Fragility Syndrome in Chesapeake Bay Retriever Dogs PLoS ONE · 2012 · 28 citations
    7. Defective trophoblast function in mice with a targeted mutation of Ets2 Genes & Development · 1998 · 301 citations
    8. 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
    9. Expanding the Clinical and Mutational Spectrum of Recessive AEBP1-Related Classical-Like Ehlers-Danlos Syndrome Genes · 2019 · 20 citations
    10. A Case of Tricho-rhino-phalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene 2024
    11. Skin penetration of active folate salts and their effects on wound healing in vitro: new approaches for dermal folate application 2023 · 1 citations
    12. Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome American journal of human genetics · 2016 · 119 citations
    13. Rapid Characterization of the Functional and Pharmacological Consequences of Cantú Syndrome K<sub>ATP</sub>Channel Mutations in Intact Cells 2023 · 1 citations
    14. Identification of a Novel MPL Loss of Function Mutation in a Patient with Cyclic Thrombocytopenia and Characterization of This Syndrome Blood · 2016 · 4 citations
    15. Update on the Potential of <i>Punica granatum</i> L. Traditional Uses and Pharmacological Uses: A Review Advances in Pharmacological and Pharmaceutical Sciences · 2024 · 5 citations
    16. Two Hypomorphic Alleles of Mouse Ass1 as a New Animal Model of Citrullinemia Type I and Other Hyperammonemic Syndromes ˜The œAmerican journal of pathology · 2010 · 35 citations
    17. The role of fibroblast growth factor receptor 2b in skin homeostasis and cancer development The EMBO Journal · 2007 · 125 citations
    18. Ectodysplasin A (EDA) Signaling: From Skin Appendage to Multiple Diseases International Journal of Molecular Sciences · 2022 · 6 citations
    19. Identification of the Keratin-Associated Protein 22-2 Gene in the Capra hircus and Association of Its Variation with Cashmere Traits Animals · 2023 · 1 citations
    20. K <sub>ATP</sub> Channels and Cardiovascular Disease Circulation Research · 2013 · 144 citations
    21. STIM1 R304W in mice causes subgingival hair growth and an increased fraction of trabecular bone Cell calcium · 2019 · 9 citations
    22. The potential of Clausena anisata (Willd.) Hook.f. ex Benth against Propionibacterium acnes South African journal of botany · 2018 · 7 citations
    23. Bio-Catalytic Action of Pseudomonas DL17 on Environmental Contaminant Sunset Yellow FCF International Journal for Research in Applied Science and Engineering Technology · 2020 · 2 citations
    24. The PER3 rs772027021 SNP induces pigmentation phenotypes of dyschromatosis universalis hereditaria 2022 · 2 citations
    25. Hair Follicle Disruption Facilitates Pathogenesis to UVB-Induced Cutaneous Inflammation and Basal Cell Carcinoma Development in Ptch+/− Mice American Journal of Pathology · 2014 · 8 citations
    26. Profibrotic Molecules Are Reduced in CRISPR-Edited Emery–Dreifuss Muscular Dystrophy Fibroblasts Cells · 2025
    27. Short-term Efficacy of Tofacitinib, a JAK Inhibitor, in IFIH1-related Aicardi-Goutières Syndrome European Journal of Medical Genetics · 2025
    28. Diagnostic approach to low‐renin hypertension Clinical Endocrinology · 2018 · 29 citations
    29. Melatonin promotes Cashmere goat (<i>Capra hircus</i>) secondary hair follicle growth: a view from integrated analysis of long non-coding and coding RNAs Cell Cycle · 2018 · 32 citations
    30. Interactions of the Vitamin D Receptor with the Corepressor Hairless Journal of Biological Chemistry · 2007 · 42 citations