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    Research 211–240 of 1000+

    1. Polygenic control of the wavy coat of the NCT mouse: involvement of an intracisternal A particle insertional mutation of the protease, serine 53 (Prss53) gene, and a modifier gene Mammalian Genome · 2022
    2. Autosomal Ichthyosis with Hypotrichosis Syndrome Displays Low Matriptase Proteolytic Activity and Is Phenocopied in ST14 Hypomorphic Mice Journal of Biological Chemistry · 2007 · 101 citations
    3. Reply Journal of Investigative Dermatology · 2000 · 1 citations
    4. K25 (K25irs1), K26 (K25irs2), K27 (K25irs3), and K28 (K25irs4) Represent the Type I Inner Root Sheath Keratins of the Human Hair Follicle Journal of Investigative Dermatology · 2006 · 93 citations
    5. Molecular–clinical correlations in a family with variable tissue mitochondrial DNA T8993G mutant load Molecular genetics and metabolism · 2006 · 35 citations
    6. KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies European journal of human genetics · 2022 · 3 citations
    7. 738 Cryo-EM and molecular dynamics of TRPV3 channel in activated state reveal structural features implicated in severe itch and hyperkeratosis 2023
    8. Type XVII collagen coordinates proliferation in the interfollicular epidermis eLife · 2017 · 124 citations
    9. Author response: Crosstalk with keratinocytes causes GNAQ oncogene specificity in melanoma 2021
    10. Author response: Dynamics of nevus development implicate cell cooperation in the growth arrest of transformed melanocytes 2020
    11. What's new in the pathogeneses and triggering factors of bullous pemphigoid The Journal of Dermatology · 2022 · 46 citations
    12. 519 Phase I/IIa clinical trial for recessive dystrophic epidermolysis bullosa using genetically corrected autologous keratinocytes 2017 · 5 citations
    13. Hypoparathyroidism as the single major component for decades of autoimmune polyglandular syndrome type 1 Endocrinology, diabetes & metabolism case reports · 2020 · 2 citations
    14. Biotin and biotinidase deficiency Expert Review of Endocrinology & Metabolism · 2008 · 166 citations
    15. Is the Loose Anagen Hair Syndrome a Keratin Disorder? Archives of Dermatology · 2002 · 84 citations
    16. A Humanized Mouse Model of Hereditary 1,25-Dihydroxyvitamin D–Resistant Rickets Without Alopecia Endocrinology · 2014 · 25 citations
    17. Regulation of Receptor Binding Specificity of FGF9 by an Autoinhibitory Homodimerization Structure · 2017 · 24 citations
    18. New developments in the molecular treatment of ichthyosis: review of the literature Orphanet journal of rare diseases · 2022 · 21 citations
    19. Genetic disorders of keratin: are scarring alopecias a sub-set? Journal of Dermatological Science · 1994 · 14 citations
    20. Hair Loss Caused by Gain-of-Function Mutant TRPV3 Is Associated with Premature Differentiation of Follicular Keratinocytes 2021 · 11 citations
    21. Genetic and other epidemiological risk factors of infants and children with hypospadias: a case control study African Journal of Urology · 2023 · 4 citations
    22. Dermatologic Manifestations of Mitochondrial Dysfunction: A Review of the Literature International journal of molecular sciences · 2024
    23. In Silico Characterization and Analysis of Clinically Significant Variants of Lipase-H (LIPH Gene) Protein Associated with Hypotrichosis Pharmaceuticals · 2023
    24. Intratumoral <i>De Novo</i> Steroid Synthesis Activates Androgen Receptor in Castration-Resistant Prostate Cancer and Is Upregulated by Treatment with CYP17A1 Inhibitors Cancer research · 2011 · 402 citations
    25. K <sub>ATP</sub> Channels and Cardiovascular Disease Circulation Research · 2013 · 144 citations
    26. Planar Cell Polarity Cadherin Celsr1 Regulates Skin Hair Patterning in the Mouse Journal of Investigative Dermatology · 2009 · 92 citations
    27. Pseudoxanthoma Elasticum: Progress in Research Toward Treatment: Summary of the 2012 PXE International Research Meeting 2013 · 46 citations
    28. Functional redundancy of <i>Frizzled 3</i> and <i>Frizzled 6</i> in planar cell polarity control of mouse hair follicles Development · 2018 · 24 citations
    29. Transglutaminase 3: The Involvement in Epithelial Differentiation and Cancer Cells · 2020 · 22 citations
    30. The Phenotypic and Genotypic Spectra of Ichthyosis With Confetti Plus Novel Genetic Variation in the 3′ End of<i>KRT10</i> JAMA dermatology · 2014 · 22 citations