Search
for

    Sort by

    Research 31–60 of 1000+

    1. Somatic stem cell heterogeneity: diversity in the blood, skin and intestinal stem cell compartments Nature Reviews Molecular Cell Biology · 2015 · 137 citations
    2. A Novel Point Mutation in the Ligand-Binding Domain (LBD) of the Human Glucocorticoid Receptor (hGR) Causing Generalized Glucocorticoid Resistance: The Importance of the C Terminus of hGR LBD in Conferring Transactivational Activity The Journal of Clinical Endocrinology & Metabolism · 2005 · 91 citations
    3. Nevus Sebaceus With Novel HRAS Sequence Variant Mutation Misdiagnosed as Alopecia Areata Cutis · 2023
    4. Recent advances in the molecular mechanisms determining tissue sensitivity to glucocorticoids: novel mutations, circadian rhythm and ligand-induced repression of the human glucocorticoid receptor BMC Endocrine Disorders · 2014 · 62 citations
    5. 476 Development of an intrinsic skin sensor for blood glucose level with CRISPR-mediated genome editing in epidermal stem cells Journal of Investigative Dermatology · 2017
    6. Germline Mutation in ATR in Autosomal- Dominant Oropharyngeal Cancer Syndrome The American Journal of Human Genetics · 2012 · 71 citations
    7. Bullous Congenital Ichthyosiform Erythroderma with Tinea Capitis in Half-Siblings: Rare Phenomenon in Ichthyosis with Co-Existing Trichophyton rubrum Infection and Blocker Displacement Amplification for Mosaic Mutation Detection Biomedicines · 2025
    8. 157 Analysis of the hybrid schwannoma and neurofibroma including a case report of schwannomatosis caused by a mutation in the LZTR1 gene Journal of Investigative Dermatology · 2022
    9. Roles of tumor suppressors in regulating tumor-associated inflammation Cell Death & Differentiation · 2014 · 44 citations
    10. Clinicopathologic and molecular characterization of a series of sporadic trichoblastic neoplasms Archiv für Pathologische Anatomie und Physiologie und für Klinische Medicin · 2025
    11. Mutant laboratory mice with abnormalities in hair follicle morphogenesis, cycling, and/or structure: An update Journal of Dermatological Science · 2012 · 52 citations
    12. The Genetics of Human Skin Disease Cold Spring Harbor Perspectives in Medicine · 2014 · 24 citations
    13. Novel Mutations in X-Linked Dominant Chondrodysplasia Punctata (CDPX2) Journal of Investigative Dermatology · 2003 · 22 citations
    14. Corneodesmosin: Structure, Function and Involvement in Pathophysiology The Open Dermatology Journal · 2010 · 2 citations
    15. An infant with congenital micrognathia and upper airway obstruction was diagnosed as Hutchinson-Gilford progeria syndrome caused by a novel LMNA mutation: Case report and literature review Heliyon · 2023 · 1 citations
    16. A Case of Tricho-rhino-phalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene 2024
    17. Molecular genetics of androgen insensitivity Adolescent and pediatric gynecology · 1995
    18. Basal cell carcinomas acquire secondary mutations to overcome dormancy and progress from microscopic to macroscopic disease Cell Reports · 2022 · 14 citations
    19. A Splice Site Mutation in the Gene of the Human Type I Hair Keratin hHa1 Results in the Expression of a Tailless Keratin Isoform Journal of Biological Chemistry · 1997 · 28 citations
    20. Stem Cell Competition for Niche Occupancy: Emerging Themes and Mechanisms Stem Cell Reviews and Reports · 2010 · 13 citations
    21. <i>PIK3CA</i> gain-of-function mutation in Schwann cells leads to severe neuropathy and aerobic glycolysis through a non-cell autonomous effect Proceedings of the National Academy of Sciences · 2025
    22. Skin abnormalities generated by temporally controlled RXRα mutations in mouse epidermis Nature · 2000 · 303 citations
    23. Increased Susceptibility to Skin Carcinogenesis Associated with a Spontaneous Mouse Mutation in the Palmitoyl Transferase Zdhhc13 Gene 2015 · 22 citations
    24. Strategies for High-Efficiency Mutation Using the CRISPR/Cas System Frontiers in Cell and Developmental Biology · 2022 · 29 citations
    25. Novel <i>KRT83</i> and <i>KRT86</i> mutations associated with monilethrix Experimental Dermatology · 2015 · 18 citations
    26. UTX (KDM6A) promotes differentiation noncatalytically in somatic self-renewing epithelia Proceedings of the National Academy of Sciences · 2025
    27. Clinical Management of Prostate Cancer in High-Risk Genetic Mutation Carriers Cancers · 2022 · 10 citations
    28. An N-Ethyl-N-Nitrosourea Induced Corticotropin-Releasing Hormone Promoter Mutation Provides a Mouse Model for Endogenous Glucocorticoid Excess Endocrinology · 2013 · 27 citations
    29. Mettl3-catalyzed m <sup>6</sup> A regulates histone modifier and modification expression in self-renewing somatic tissue Science Advances · 2023 · 24 citations
    30. Comparative ubiquitinomics of human skin reveals insulin receptor ubiquitination as a regulator of collagen secretion Communications Biology · 2026