Search
for

    Sort by

    Research 451–480 of 607

    1. Autosomal Ichthyosis with Hypotrichosis Syndrome Displays Low Matriptase Proteolytic Activity and Is Phenocopied in ST14 Hypomorphic Mice Journal of Biological Chemistry · 2007 · 101 citations
    2. Ichthyosis, Follicular Atrophoderma, and Hypotrichosis Caused by Mutations in ST14 Is Associated with Impaired Profilaggrin Processing Journal of Investigative Dermatology · 2008 · 99 citations
    3. Clinical and Immunological Phenotype of Patients With Primary Immunodeficiency Due to Damaging Mutations in NFKB2 Frontiers in immunology · 2019 · 98 citations
    4. Uterine transplantation in transgender women BJOG · 2018 · 83 citations
    5. KGF and EGF signalling block hair follicle induction and promote interfollicular epidermal fate in developing mouse skin Development · 2009 · 82 citations
    6. Current evaluation of amenorrhea Fertility and Sterility · 2008 · 78 citations
    7. Hairless Suppresses Vitamin D Receptor Transactivation in Human Keratinocytes Endocrinology · 2005 · 78 citations
    8. Vitamin D and the skin Journal of bone and mineral metabolism · 2010 · 76 citations
    9. FOXN1: A Master Regulator Gene of Thymic Epithelial Development Program Frontiers in Immunology · 2013 · 69 citations
    10. New clinico‐genetic classification of trichothiodystrophy American Journal of Medical Genetics Part A · 2009 · 68 citations
    11. STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity Orphanet Journal of Rare Diseases · 2014 · 65 citations
    12. Quantification of the Vitamin D Receptor−Coregulator Interaction Biochemistry · 2009 · 62 citations
    13. p63: a crucial player in epithelial stemness regulation Oncogene · 2023 · 54 citations
    14. Specific morphogenetic events in mouse external genitalia sex differentiation are responsive/dependent upon androgens and/or estrogens Differentiation · 2012 · 51 citations
    15. Skin signs in anorexia nervosa Dermato-endocrinology · 2009 · 48 citations
    16. Vitamin D resistance 2006 · 45 citations
    17. An unexpected role for keratin 10 end domains in susceptibility to skin cancer Journal of Cell Science · 2006 · 43 citations
    18. Azathioprine BioDrugs · 1998 · 42 citations
    19. Myotonic Dystrophy—A Progeroid Disease? Frontiers in Neurology · 2018 · 41 citations
    20. Society for Endocrinology guidelines for testosterone replacement therapy in male hypogonadism Clinical Endocrinology · 2021 · 39 citations
    21. Hutchinson-Gilford Progeria Syndrome—Current Status and Prospects for Gene Therapy Treatment Cells · 2019 · 39 citations
    22. Recently Identified Forms of Epidermolysis Bullosa 2015 · 39 citations
    23. CD4+CD25+FoxP3+ Regulatory Tregs inhibit fibrocyte recruitment and fibrosis via suppression of FGF-9 production in the TGF-β1 exposed murine lung Frontiers in Pharmacology · 2014 · 39 citations
    24. Glucocorticoids Influencing Wnt/β-Catenin Pathway; Multiple Sites, Heterogeneous Effects Molecules · 2020 · 37 citations
    25. A unique insertion/duplication in the VDR gene that truncates the VDR causing hereditary 1,25-dihydroxyvitamin D-resistant rickets without alopecia Archives of Biochemistry and Biophysics · 2006 · 37 citations
    26. Ichthyosis with confetti: clinics, molecular genetics and management Orphanet Journal of Rare Diseases · 2015 · 36 citations
    27. Odontogenic Keratocysts Arise from Quiescent Epithelial Rests and Are Associated with Deregulated Hedgehog Signaling in Mice and Humans American Journal Of Pathology · 2006 · 35 citations
    28. FOXN1 deficient nude severe combined immunodeficiency Orphanet journal of rare diseases · 2017 · 32 citations
    29. Inherited epidermolysis bullosa: clinical and therapeutic aspects Anais Brasileiros de Dermatologia · 2013 · 32 citations
    30. Human FOXN1-Deficiency Is Associated with αβ Double-Negative and FoxP3+ T-Cell Expansions That Are Distinctly Modulated upon Thymic Transplantation PloS one · 2012 · 32 citations