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    Research 61–90 of 1000+

    1. Expanding the phenotype: Four new cases and hope for treatment in Bachmann‐Bupp syndrome American Journal of Medical Genetics Part A · 2021 · 11 citations
    2. Constitutive Internalization of the Leucine-rich G Protein-coupled Receptor-5 (LGR5) to the Trans-Golgi Network Journal of Biological Chemistry · 2013 · 58 citations
    3. Skipping of Exons by Premature Termination of Transcription and Alternative Splicing within Intron-5 of the Sheep SCF Gene: A Novel Splice Variant PloS one · 2012 · 6 citations
    4. Structure and expression of the ovine Hoxc-13 gene Gene · 2003 · 12 citations
    5. Alopecia androgénica en una paciente con lupus eritematoso sistémico Anales de la Facultad de Ciencias Médicas · 2023
    6. 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
    7. Tumour Necrosis Factor Alpha, Interferon Gamma and Substance P Are Novel Modulators of Extrapituitary Prolactin Expression in Human Skin PLOS ONE · 2013 · 24 citations
    8. The susceptibility of disulfide bonds to modification in keratin fibers undergoing tensile stress Biophysical Journal · 2022 · 11 citations
    9. Canonical prolactin signaling and global mRNA expression in the skin of Holstein heifers carrying the SLICK1 allele of the prolactin receptor gene Journal of Dairy Science · 2025 · 1 citations
    10. p63 in skin homeostasis and disease: molecular mechanisms and therapeutic potentials Cell Death Discovery · 2026
    11. Chemical bonds and hair behaviour—A review International Journal of Cosmetic Science · 2024
    12. PDGFA in Cashmere Goat: A Motivation for the Hair Follicle Stem Cells to Activate Animals · 2019 · 19 citations
    13. Biochemical Insights and Clinical Applications of Ischemia-Modified Albumin in Ischemic Conditions Journal of Vascular Diseases · 2024 · 3 citations
    14. Physical and Functional Interaction between the Vitamin D Receptor and Hairless Corepressor, Two Proteins Required for Hair Cycling Journal of Biological Chemistry · 2003 · 215 citations
    15. Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome American journal of human genetics · 2016 · 119 citations
    16. The naked truth: Sphynx and Devon Rex cat breed mutations in KRT71 Mammalian genome · 2010 · 75 citations
    17. Identification of Novel Mutations in Basic Hair Keratins hHb1 and hHb6 in Monilethrix: Implications for Protein Structure and Clinical Phenotype Journal of Investigative Dermatology · 1999 · 62 citations
    18. Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex American journal of human genetics · 2018 · 55 citations
    19. 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
    20. 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
    21. Impaired osteoblastic differentiation, reduced bone formation, and severe osteoporosis in noggin-overexpressing mice Journal of Clinical Investigation · 2003 · 21 citations
    22. Novel insights into the molecular mechanisms underlying generalized glucocorticoid resistance and hypersensitivity syndromes Hormones · 2017 · 15 citations
    23. Recent advances in the molecular mechanisms causing primary generalized glucocorticoid resistance Hormones · 2016 · 15 citations
    24. Epidermolysis Bullosa Simplex Caused by Distal Truncation of BPAG1-e: An Intermediate Generalized Phenotype with Prurigo Papules Journal of Investigative Dermatology · 2017 · 14 citations
    25. A Spontaneous Deletion within the Desmoglein 3 Extracellular Domain of Mice Results in Hypomorphic Protein Expression, Immunodeficiency, and a Wasting Disease Phenotype ˜The œAmerican journal of pathology · 2014 · 11 citations
    26. Protein degradation: expanding the toolbox to restrain cancer drug resistance Journal of Hematology & Oncology · 2023 · 7 citations
    27. Phosphatase Regulator NIPP1 Restrains Chemokine-Driven Skin Inflammation 2020 · 7 citations
    28. The atypical ‘hippocampal’ glutamate receptor coupled to phospholipase D that controls stretch‐sensitivity in primary mechanosensory nerve endings is homomeric purely metabotropic GluK2 Experimental physiology · 2023 · 6 citations
    29. CCDC22 and CCDC93, two potential retriever-interacting proteins, are required for root and root hair growth in Arabidopsis Frontiers in plant science · 2022
    30. Inactivation of the Vitamin D Receptor Enhances Susceptibility of Murine Skin to UV-Induced Tumorigenesis 2008 · 148 citations