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    Research 781–810 of 1000+

    1. Establishment of Tsc2-deficient rat embryonic stem cells International Journal of Oncology · 2015 · 8 citations
    2. De novo variation in ARID1B gene causes Coffin-Siris syndrome 1 in a Chinese family with excessive early-onset high myopia BMC Medical Genomics · 2024 · 3 citations
    3. TCF/Lef1-Mediated Control of Lipid Metabolism Regulates Skin Barrier Function Journal of Investigative Dermatology · 2011 · 22 citations
    4. A Variable Monilethrix Phenotype Associated With a Novel Mutation, Glu402Lys, in the Helix Termination Motif of the Type II Hair Keratin hHb1 Journal of Investigative Dermatology · 1998 · 47 citations
    5. Identification of Trichophyton rubrum by Nested PCR Analysis from Paraffin Embedded Specimen in Trichophytia Profunda Acuta of the Glabrous Skin Nihon Ishinkin Gakkai zasshi · 2005 · 23 citations
    6. 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
    7. Skin abnormalities generated by temporally controlled RXRα mutations in mouse epidermis Nature · 2000 · 303 citations
    8. Co-factors of LIM domains (Clims/Ldb/Nli) regulate corneal homeostasis and maintenance of hair follicle stem cells Developmental biology · 2007 · 25 citations
    9. A Monoallelic Two-Hit Mechanism in PLCD1 Explains the Genetic Pathogenesis of Hereditary Trichilemmal Cyst Formation 2019 · 21 citations
    10. Structural and biochemical changes underlying a keratoderma-like phenotype in mice lacking suprabasal AP1 transcription factor function Cell Death and Disease · 2015 · 17 citations
    11. 14-3-3σ Is Required for Club Hair Retention 2010 · 8 citations
    12. Correction of Hair Shaft Defects through Allele-Specific Silencing of Mutant Krt75 Journal of Investigative Dermatology · 2015 · 6 citations
    13. Local Microenvironment Provides Important Cues for Cell Differentiation in Lingual Epithelia PloS one · 2012 · 6 citations
    14. Translational perspectives in HTRA1-associated disorders: biomarkers, gene therapy, and future directions International Journal of Pharmaceutical and Clinical Research · 2026
    15. Characterization of Bsk mice: I. The Bsk mutation does not involve a recombination of cornea-specific keratin 12 and skin-specific hair keratin genes. PubMed · 1998 · 4 citations
    16. Central Centrifugal Cicatricial Alopecia: New Insights and a Call for Action Journal of Investigative Dermatology Symposium Proceedings · 2017 · 27 citations
    17. Differentiation of Human Pluripotent Stem Cells Into Definitive Endoderm Cells in Various Flexible Three-Dimensional Cell Culture Systems: Possibilities and Limitations Frontiers in Cell and Developmental Biology · 2021 · 13 citations
    18. Marie Unna Hereditary Hypotrichosis Gene Maps to Human Chromosome 8p21 Near Hairless Journal of Investigative Dermatology · 2000 · 4 citations
    19. Dynamic regulation of retinoic acid-binding proteins in developing, adult and neoplastic skin reveals roles for β-catenin and Notch signalling Developmental biology · 2008 · 84 citations
    20. Diagnosis and management of vascular Ehlers-Danlos syndrome: Experience of the UK national diagnostic service, Sheffield European Journal of Human Genetics · 2023 · 1 citations
    21. A Case of Tricho-rhino-phalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene 2024
    22. Pulmonary manifestations of Birt-Hogg-Dubé syndrome Familial cancer · 2013 · 99 citations
    23. The Role of Interferon-γ in Autoimmune Polyendocrine Syndrome Type 1 New England Journal of Medicine · 2024 · 71 citations
    24. Resistance to the Insulin and Elevated Level of Androgen: A Major Cause of Polycystic Ovary Syndrome Frontiers in Endocrinology · 2021 · 36 citations
    25. New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene BMC medical genetics · 2014 · 9 citations
    26. Single-cell analysis of temporal immune cell dynamics in alopecia areata reveals a causal role for clonally expanded CD8+ T cells in disease Cell Reports · 2025 · 4 citations
    27. Substance P in keratosis follicularis spinulosa decalvans JAAD case reports · 2015 · 4 citations
    28. Keratosis pilaris Tidsskrift for Den norske lægeforening · 2023 · 1 citations
    29. Systemic Lupus Erythematosus: What Every Clinician Needs to Know Mayo Clinic Proceedings · 2026
    30. Autosomal recessive woolly hair syndrome: a series of eight patients in an Indian population Skin Health and Disease · 2025