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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 28

    1. Impact of Combined Baricitinib and FTI Treatment on Adipogenesis in Hutchinson–Gilford Progeria Syndrome and Other Lipodystrophic Laminopathies Cells · 2023 · 4 citations
    2. Lamins in development, tissue maintenance and stress EMBO reports · 2012 · 64 citations
    3. 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
    4. Profibrotic Molecules Are Reduced in CRISPR-Edited Emery–Dreifuss Muscular Dystrophy Fibroblasts Cells · 2025
    5. Hutchinson-Gilford syndrome: History, causes, phenotype and research advances GSC Advanced Research and Reviews · 2023
    6. Beyond Expectations International review of cell and molecular biology · 2014 · 70 citations
    7. How to diagnose a lipodystrophy syndrome Annales d'Endocrinologie · 2012 · 53 citations
    8. Cicatricial Alopecia Research Foundation meeting, May 2016: Progress towards the diagnosis, treatment and cure of primary cicatricial alopecias Experimental Dermatology · 2018 · 22 citations
    9. Cutaneous features of myotonic dystrophy types 1 and 2: Implication of premature aging and vitamin D homeostasis Neuromuscular Disorders · 2016 · 18 citations
    10. Progeria (Hutchinson-Gilford Syndrome): Literature Review and Clinical Case Вопросы современной педиатрии · 2022 · 1 citations
    11. Integration of Biochemical and Mechanical Signals at the Nuclear Periphery: Impacts on Skin Development and Disease Stem cell biology and regenerative medicine · 2018
    12. 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
    13. Syndromes of Severe Insulin Resistance (SSIRs) 2004
    14. Premature aging syndromes: From patients to mechanism Journal of dermatological science · 2019 · 29 citations
    15. Hutchinson-Gilford Progeria Syndrome—Current Status and Prospects for Gene Therapy Treatment Cells · 2019 · 39 citations
    16. Endoplasmic reticulum stress at the crossroads of progeria and atherosclerosis EMBO molecular medicine · 2019 · 11 citations
    17. Epidermal expression of the truncated prelamin A causing Hutchinson-Gilford progeria syndrome: effects on keratinocytes, hair and skin Human Molecular Genetics · 2008 · 48 citations
    18. A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report Revista Paulista de Pediatria · 2024 · 2 citations
    19. Atypical Progeroid Syndrome due to Heterozygous Missense LMNA Mutations 2009 · 115 citations
    20. 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
    21. 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
    22. Intermittent treatment with farnesyltransferase inhibitor and sulforaphane improves cellular homeostasis in Hutchinson-Gilford progeria fibroblasts Oncotarget · 2017 · 32 citations
    23. Genetically modified laboratory mice with sebaceous glands abnormalities Cellular and Molecular Life Sciences · 2016 · 22 citations
    24. From structural resilience to cell specification — Intermediate filaments as regulators of cell fate ˜The œFASEB journal · 2020 · 9 citations
    25. Toward Elucidating Epigenetic and Metabolic Regulation of Stem Cell Lineage Plasticity in Skin Aging Frontiers in Cell and Developmental Biology · 2022 · 7 citations
    26. High-throughput Sequencing to Identify Monogenic Etiologies in a Preselected Polycystic Ovary Syndrome Cohort Journal of the Endocrine Society · 2022 · 2 citations
    27. RISK FACTORS, PREVALENCE AND DIAGNOSIS OF HUTCHISON GILFORD SYNDROME WITH SPECIAL REFERENCE TO CASE REPORTS 2017 · 2 citations
    28. Case report: A novel splice-site mutation of MTX2 gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review Frontiers in endocrinology · 2024