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    Research 121–150 of 1000+

    1. The Autoimmune Regulator (AIRE), Which Is Defective in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Patients, Is Expressed in Human Epidermal and Follicular Keratinocytes and Associates With the Intermediate Filament Protein Cytokeratin 17 ˜The œAmerican journal of pathology · 2011 · 24 citations
    2. Expanding phenotype of hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis caused by FAM111B mutations: Report of an additional family raising the question of cancer predisposition and a short review of early-onset poikiloderma JAAD case reports · 2017 · 23 citations
    3. Bioactive Glasses: Advancing Skin Tissue Repair through Multifunctional Mechanisms and Innovations Biomaterials Research · 2025 · 14 citations
    4. Dermatopathia pigmentosa reticularis: A rare reticulate pigmentary disorder Indian dermatology online journal · 2013 · 12 citations
    5. Pigmentary mosaicism: An update Indian Journal of Dermatology · 2008 · 7 citations
    6. Autosomal recessive monilethrix: Novel variants of the <i>DSG4</i> gene in three Chinese families Molecular genetics & genomic medicine · 2022 · 5 citations
    7. The dental needs of children with Epidermolysis Bullosa and service delivery: a scoping review BMC Oral Health · 2024 · 4 citations
    8. Cronkhite-Canada Syndrome: A Case Report and Literature Review of Gastrointestinal Polyposis Syndrome Case Reports in Clinical Medicine · 2014 · 2 citations
    9. Identification of a novel homozygous LAMB3 mutation in a Chinese male with junctional epidermolysis bullosa and severe urethra stenosis: A case report Frontiers in genetics · 2022
    10. Skin barrier, phenotypic and genotypic characterisation of autosomal recessive ichthyosis in TGM1‐deficient Jack Russell Terriers and response to topical ceramide Veterinary Dermatology · 2024
    11. Novel Hairless Mutations in Two Kindreds with Autosomal Recessive Papular Atrichia Journal of Investigative Dermatology · 1999 · 66 citations
    12. Comparison of prevalence of periodontal disease in women with polycystic ovary syndrome and healthy controls Dental research journal · 2015 · 21 citations
    13. Identification of an Intronic Regulatory Element Necessary for Tissue-Specific Expression of <i>Foxn1</i> in Thymic Epithelial Cells 2019 · 17 citations
    14. Pili Torti: A Feature of Numerous Congenital and Acquired Conditions Journal of clinical medicine · 2021 · 9 citations
    15. Generalized hypertrichosis after 5% minoxidil solution in trichorhinophalangeal syndrome: A case report and review of the literatures 2023 · 1 citations
    16. E-Poster Indian Journal of Endocrinology and Metabolism · 2023
    17. Specific morphogenetic events in mouse external genitalia sex differentiation are responsive/dependent upon androgens and/or estrogens Differentiation · 2012 · 51 citations
    18. Pleiotropic Role of Notch Signaling in Human Skin Diseases International Journal of Molecular Sciences · 2020 · 29 citations
    19. Premature aging syndromes: From patients to mechanism Journal of dermatological science · 2019 · 29 citations
    20. Biomedical engineering approaches for the delivery of JAGGED1 as a potential tissue regenerative therapy Frontiers in bioengineering and biotechnology · 2023
    21. Genetic Disorders and Defects in Vitamin D Action Endocrinology and metabolism clinics of North America · 2010 · 151 citations
    22. Mutations in the vitamin D receptor and hereditary vitamin D-resistant rickets BoneKEy Reports · 2014 · 107 citations
    23. An Integrated Transcriptome Atlas of Embryonic Hair Follicle Progenitors, Their Niche, and the Developing Skin Developmental cell · 2015 · 173 citations
    24. Impaired wound healing in transgenic mice overexpressing the activin antagonist follistatin in the epidermis EMBO journal · 2001 · 163 citations
    25. WNT Signaling in Disease Cells · 2019 · 144 citations
    26. Atrichia Caused by Mutations in the Vitamin D Receptor Gene is a Phenocopy of Generalized Atrichia Caused by Mutations in the Hairless Gene 2001 · 139 citations
    27. Dlx3 is a crucial regulator of hair follicle differentiation and cycling Development · 2008 · 132 citations
    28. Autosomal Ichthyosis with Hypotrichosis Syndrome Displays Low Matriptase Proteolytic Activity and Is Phenocopied in ST14 Hypomorphic Mice Journal of Biological Chemistry · 2007 · 101 citations
    29. Mutations in the Desmoglein 4 Gene Underlie Localized Autosomal Recessive Hypotrichosis with Monilethrix Hairs and Congenital Scalp Erosions Journal of Investigative Dermatology · 2006 · 81 citations
    30. Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome Orphanet Journal of Rare Diseases · 2011 · 71 citations