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    Glossary Laminopathies

    group of genetic disorders caused by LMNA gene mutations

    Laminopathies are a group of rare genetic disorders caused by mutations in the LMNA gene, which encodes proteins called lamins. These proteins are crucial for maintaining the structural integrity of the cell nucleus. Laminopathies can lead to a variety of conditions, including muscular dystrophies, cardiomyopathies, and premature aging syndromes, affecting multiple systems in the body.

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    Research 30 of 35

    1. Impact of Combined Baricitinib and FTI Treatment on Adipogenesis in Hutchinson–Gilford Progeria Syndrome and Other Lipodystrophic Laminopathies Cells · 2023 · 4 citations
    2. Progeria (Hutchinson-Gilford Syndrome): Literature Review and Clinical Case Вопросы современной педиатрии · 2022 · 1 citations
    3. Lamins in development, tissue maintenance and stress EMBO reports · 2012 · 64 citations
    4. Ultrastructural skin changes in Egyptian mandibuloacral dysplasia patients with p.Arg527Leu <i>LMNA</i> mutation and in their asymptomatic heterozygotic mothers Journal of Clinical Pathology · 2013 · 2 citations
    5. Profibrotic Molecules Are Reduced in CRISPR-Edited Emery–Dreifuss Muscular Dystrophy Fibroblasts Cells · 2025
    6. Hutchinson-Gilford syndrome: History, causes, phenotype and research advances GSC Advanced Research and Reviews · 2023
    7. How to diagnose a lipodystrophy syndrome Annales d'Endocrinologie · 2012 · 53 citations
    8. A Spontaneous Fatp4/Scl27a4 Splice Site Mutation in a New Murine Model for Congenital Ichthyosis PLoS ONE · 2012 · 13 citations
    9. Integration of Biochemical and Mechanical Signals at the Nuclear Periphery: Impacts on Skin Development and Disease Stem cell biology and regenerative medicine · 2018
    10. Development and homeostasis of the sebaceous gland Seminars in Cell & Developmental Biology · 2012 · 107 citations
    11. Beyond Expectations International review of cell and molecular biology · 2014 · 70 citations
    12. Cicatricial Alopecia Research Foundation meeting, May 2016: Progress towards the diagnosis, treatment and cure of primary cicatricial alopecias Experimental Dermatology · 2018 · 22 citations
    13. Cutaneous features of myotonic dystrophy types 1 and 2: Implication of premature aging and vitamin D homeostasis Neuromuscular Disorders · 2016 · 18 citations
    14. All Roads Go to the Nucleus: Integration of Signaling/Transcription Factor-Mediated and Epigenetic Regulatory Mechanisms in the Control of Skin Development and Regeneration Stem cell biology and regenerative medicine · 2018
    15. Syndromes of Severe Insulin Resistance (SSIRs) 2004
    16. Examining polyquaternium polymers deposition on human excised hair fibers Journal of Cosmetic Dermatology · 2017 · 4 citations
    17. Premature aging syndromes: From patients to mechanism Journal of dermatological science · 2019 · 29 citations
    18. Hutchinson-Gilford Progeria Syndrome—Current Status and Prospects for Gene Therapy Treatment Cells · 2019 · 39 citations
    19. Endoplasmic reticulum stress at the crossroads of progeria and atherosclerosis EMBO molecular medicine · 2019 · 11 citations
    20. Epidermal expression of the truncated prelamin A causing Hutchinson-Gilford progeria syndrome: effects on keratinocytes, hair and skin Human Molecular Genetics · 2008 · 48 citations
    21. A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report Revista Paulista de Pediatria · 2024 · 2 citations
    22. Myotonic Dystrophy—A Progeroid Disease? Frontiers in Neurology · 2018 · 41 citations
    23. High-throughput Sequencing to Identify Monogenic Etiologies in a Preselected Polycystic Ovary Syndrome Cohort Journal of the Endocrine Society · 2022 · 2 citations
    24. Molecular Morbidity Score–Can MicroRNAs Assess the Burden of Disease? International Journal of Molecular Sciences · 2024
    25. In Silico Characterization and Analysis of Clinically Significant Variants of Lipase-H (LIPH Gene) Protein Associated with Hypotrichosis Pharmaceuticals · 2023
    26. Dunnigan-Type Familial Partial Lipodystrophy: Understanding and Treating the Syndrome Open Journal of Endocrine and Metabolic Diseases · 2017
    27. Atypical Progeroid Syndrome due to Heterozygous Missense LMNA Mutations 2009 · 115 citations
    28. Targeted transgenic expression of the mutation causing Hutchinson-Gilford progeria syndrome leads to proliferative and degenerative epidermal disease Journal of Cell Science · 2008 · 85 citations
    29. Recent advances on skin‐resident stem/progenitor cell functions in skin regeneration, aging and cancers and novel anti‐aging and cancer therapies Journal of Cellular and Molecular Medicine · 2009 · 36 citations
    30. Intermittent treatment with farnesyltransferase inhibitor and sulforaphane improves cellular homeostasis in Hutchinson-Gilford progeria fibroblasts Oncotarget · 2017 · 32 citations