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    Research 181–210 of 1000+

    1. Clinical and Immunological Phenotype of Patients With Primary Immunodeficiency Due to Damaging Mutations in NFKB2 Frontiers in immunology · 2019 · 98 citations
    2. 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
    3. An N-Ethyl-N-Nitrosourea Induced Corticotropin-Releasing Hormone Promoter Mutation Provides a Mouse Model for Endogenous Glucocorticoid Excess Endocrinology · 2013 · 27 citations
    4. Gender Differences in Response to COVID-19 Infection and Vaccination Biomedicines · 2023 · 25 citations
    5. Biological significance of FoxN1 gain-of-function mutations during T and B lymphopoiesis in juvenile mice Cell death and disease · 2014 · 16 citations
    6. Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome ˜The œAmerican journal of case reports · 2018 · 14 citations
    7. Histological and molecular restoration of type VII collagen in Recessive dystrophic epidermolysis bullosa mouse skin by topical injection of keratinocyte-like cells differentiated from human adipose-derived mesenchymal stromal cells Journal of Dermatological Science · 2024 · 1 citations
    8. Case report: Novel p.Val306Met missense mutation in TRPV3 in a case of Olmsted syndrome accompanied by squamous cell carcinoma Frontiers in Oncology · 2024
    9. The naked truth: Sphynx and Devon Rex cat breed mutations in KRT71 Mammalian genome · 2010 · 75 citations
    10. Rapid Characterization of the Functional and Pharmacological Consequences of Cantú Syndrome K<sub>ATP</sub>Channel Mutations in Intact Cells 2023 · 1 citations
    11. Localized in vivo genotypic and phenotypic correction of the albino mutation in skin by RNA-DNA oligonucleotide Nature biotechnology · 2000 · 130 citations
    12. Role of Endolysosomes in Severe Acute Respiratory Syndrome Coronavirus-2 Infection and Coronavirus Disease 2019 Pathogenesis: Implications for Potential Treatments Frontiers in Pharmacology · 2020 · 55 citations
    13. Development of Woolly Hair and Hairlessness in a CRISPR−Engineered Mutant Mouse Model with KRT71 Mutations Cells · 2023
    14. Progress in research on the effects of Platelet-Rich Plasma (PRP) ovarian injection on early ovarian reserve dysfunction and premature ovarian insufficiency Journal of Ovarian Research · 2026
    15. From bedside to bench: regulation of host factors in SARS-CoV-2 infection Experimental and Molecular Medicine · 2021 · 4 citations
    16. Bioavailability Enhancement of Cepharanthine via Pulmonary Administration in Rats and Its Therapeutic Potential for Pulmonary Fibrosis Associated with COVID-19 Infection Molecules · 2022 · 14 citations
    17. <i>Pseudomonas aeruginosa</i> heme metabolites biliverdin IXβ and IXδ are integral to lifestyle adaptations associated with chronic infection mBio · 2024 · 9 citations
    18. Genetic disorders of keratin: are scarring alopecias a sub-set? Journal of Dermatological Science · 1994 · 14 citations
    19. Molecular basis of androgen insensitivity Molecular and Cellular Endocrinology · 2001 · 309 citations
    20. 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
    21. COVID-19 and hypopituitarism Reviews in endocrine and metabolic disorders · 2021 · 15 citations
    22. Montagna Symposium 2014—Skin Aging: Molecular Mechanisms and Tissue Consequences 2015 · 9 citations
    23. Correction of Hair Shaft Defects through Allele-Specific Silencing of Mutant Krt75 Journal of Investigative Dermatology · 2015 · 6 citations
    24. Biotin and biotinidase deficiency Expert Review of Endocrinology & Metabolism · 2008 · 166 citations
    25. Relationship of a Novel c.429delC Deletion in Hairless Gene HR with Alopecia in Two Families from Southern Punjab, Pakistan Pakistan Journal of Zoology · 2020
    26. The Complexity of the Ovine and Caprine Keratin-Associated Protein Genes International journal of molecular sciences · 2021 · 10 citations
    27. A Mouse Model for the Basal Transcription/DNA Repair Syndrome Trichothiodystrophy Molecular cell · 1998 · 188 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. Clinical and Molecular Diagnostic Criteria of Congenital Atrichia with Papular Lesions11This paper originally appeared in issue 117:1662–1665, 2001. Following publication the authors indicated that important corrections at page proof were not taken in. To ensure that the paper is published as intended, the editors have decided to reproduce the contents in full. Journal of Investigative Dermatology · 2002 · 69 citations
    30. Mutant laboratory mice with abnormalities in hair follicle morphogenesis, cycling, and/or structure: An update Journal of Dermatological Science · 2012 · 52 citations