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    Glossary LMNA gene

    provides instructions for making proteins crucial for cell nucleus structure

    The LMNA gene, also known as the Lamin A/C gene, provides instructions for making proteins called lamin A and lamin C, which are crucial for maintaining the structure and function of the cell nucleus. Mutations in this gene can lead to a variety of disorders, including certain types of muscular dystrophy, cardiomyopathy, and progeria, a condition that causes accelerated aging.

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    Research 30 of 79

    1. Atypical Progeroid Syndrome due to Heterozygous Missense LMNA Mutations 2009 · 115 citations
    2. Hutchinson-Gilford Progeria Syndrome—Current Status and Prospects for Gene Therapy Treatment Cells · 2019 · 39 citations
    3. Hutchinson-Gilford progeria syndrome: Report of 2 cases and a novel LMNA mutation of HGPS in China Journal of the American Academy of Dermatology · 2013 · 3 citations
    4. A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report Revista Paulista de Pediatria · 2024 · 2 citations
    5. Genetics of Progeria and Aging Elsevier eBooks · 2018
    6. 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
    7. Hutchinson-gilford progeria syndrome and its relevance to cardiovascular diseases and normal aging. PubMed · 2013 · 3 citations
    8. A 13-Year-Old Boy from Thailand with Hutchinson-Gilford Progeria Syndrome with Coronary Artery and Aortic Calcification and Non-ST-Segment Elevation Myocardial Infarction (NSTEMI) American Journal of Case Reports · 2021 · 2 citations
    9. Hutchinson-Gilford progeria syndrome - A brief introduction International Journal of Pharmacological Research · 2018 · 2 citations
    10. RISK FACTORS, PREVALENCE AND DIAGNOSIS OF HUTCHISON GILFORD SYNDROME WITH SPECIAL REFERENCE TO CASE REPORTS 2017 · 2 citations
    11. 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
    12. Progeria (Hutchinson-Gilford Syndrome): Literature Review and Clinical Case Вопросы современной педиатрии · 2022 · 1 citations
    13. Hutchinson-Gilford Progeria Syndrome: Premature Aging 2026
    14. Hutchinson-Gilford syndrome: History, causes, phenotype and research advances Zenodo (CERN European Organization for Nuclear Research) · 2023
    15. Hutchinson-Gilford syndrome: History, causes, phenotype and research advances GSC Advanced Research and Reviews · 2023
    16. Development of a mouse model for Hutchinson-Gilford progeria syndrome reveal defects in adult stem cell maintenance Open Archive (Karolinska Institutet) · 2011
    17. High-throughput Sequencing to Identify Monogenic Etiologies in a Preselected Polycystic Ovary Syndrome Cohort Journal of the Endocrine Society · 2022 · 2 citations
    18. A 10 Mb duplication in chromosome band 5q31.3–5q33.1 associated with late-onset lipodystrophy, ichthyosis, epilepsy and glomerulonephritis European Journal of Medical Genetics · 2011 · 5 citations
    19. Molecular studies of Hutchinson-Gilford progeria syndrome OPAL (Open@LaTrobe) (La Trobe University) · 2009
    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. Profibrotic Molecules Are Reduced in CRISPR-Edited Emery–Dreifuss Muscular Dystrophy Fibroblasts Cells · 2025
    22. Autoimmune Diseases and Acquired Von Willebrand Disease in Two Cases of Progeria International Journal of Clinical Medicine · 2014
    23. Lamins in development, tissue maintenance and stress EMBO reports · 2012 · 64 citations
    24. Newborn infant skin gene expression: Remarkable differences versus adults PLoS ONE · 2021 · 20 citations
    25. Clinical-exome sequencing unveils the genetic landscape of polycystic ovarian syndrome (PCOS) focusing on lean and obese phenotypes: implications for cost-effective diagnosis and personalized treatment Scientific Reports · 2024 · 13 citations
    26. Polycystic Ovary Syndrome: Conditions, Genetics and Current Cure Endocrinology&Metabolism International Journal · 2016
    27. 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
    28. Novel Compound Heterozygous Variants in the CDC6 Gene in a Russian Patient with Meier-Gorlin Syndrome The Application of Clinical Genetics · 2022 · 2 citations
    29. How to diagnose a lipodystrophy syndrome Annales d'Endocrinologie · 2012 · 53 citations
    30. The systemic wrinkled skin phenotype involves aberrant expression and variation of genes related to the oxidative stress and extracellular matrix in Xiang pigs BMC Genomics · 2025