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    Did you mean Hutchinson-Gilford Progeria Syndrome?
    Glossary Hutchinson-Gilford Progeria Syndrome

    rare genetic disorder causing rapid aging in children

    Hutchinson-Gilford Progeria Syndrome (HGPS) is a rare genetic disorder characterized by rapid aging in children, typically becoming apparent within the first two years of life. It is caused by a mutation in the LMNA gene, which leads to the production of an abnormal protein called progerin, resulting in cellular instability and the accelerated aging process.

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    Research 30 of 880

    1. Progeria (Hutchinson-Gilford Syndrome): Literature Review and Clinical Case Вопросы современной педиатрии · 2022 · 1 citations
    2. Hutchinson-Gilford syndrome: History, causes, phenotype and research advances Zenodo (CERN European Organization for Nuclear Research) · 2023
    3. Hutchinson-Gilford syndrome: History, causes, phenotype and research advances GSC Advanced Research and Reviews · 2023
    4. 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
    5. Epidermal expression of the truncated prelamin A causing Hutchinson-Gilford progeria syndrome: effects on keratinocytes, hair and skin Human Molecular Genetics · 2008 · 48 citations
    6. 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
    7. RISK FACTORS, PREVALENCE AND DIAGNOSIS OF HUTCHISON GILFORD SYNDROME WITH SPECIAL REFERENCE TO CASE REPORTS 2017 · 2 citations
    8. Hutchinson-Gilford Progeria Syndrome—Current Status and Prospects for Gene Therapy Treatment Cells · 2019 · 39 citations
    9. Impact of Combined Baricitinib and FTI Treatment on Adipogenesis in Hutchinson–Gilford Progeria Syndrome and Other Lipodystrophic Laminopathies Cells · 2023 · 4 citations
    10. Hutchinson-gilford progeria syndrome and its relevance to cardiovascular diseases and normal aging. PubMed · 2013 · 3 citations
    11. Impaired Lef1 activation accelerates iPSC-derived keratinocytes differentiation in Hutchinson-Gilford Progeria Syndrome bioRxiv (Cold Spring Harbor Laboratory) · 2022 · 2 citations
    12. 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
    13. Hutchinson-Gilford progeria syndrome - A brief introduction International Journal of Pharmacological Research · 2018 · 2 citations
    14. 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
    15. Impaired LEF1 Activation Accelerates iPSC-Derived Keratinocytes Differentiation in Hutchinson-Gilford Progeria Syndrome International journal of molecular sciences · 2022 · 1 citations
    16. Hutchinson-Gilford Progeria Syndrome: Premature Aging 2026
    17. Ocular manifestations of Hutchinson-Gilford-Progeria syndrome: A rare presentation Indian journal of clinical and experimental opthalmology · 2022
    18. Development of a mouse model for Hutchinson-Gilford progeria syndrome reveal defects in adult stem cell maintenance Open Archive (Karolinska Institutet) · 2011
    19. Molecular studies of Hutchinson-Gilford progeria syndrome OPAL (Open@LaTrobe) (La Trobe University) · 2009
    20. Intermittent treatment with farnesyltransferase inhibitor and sulforaphane improves cellular homeostasis in Hutchinson-Gilford progeria fibroblasts Oncotarget · 2017 · 32 citations
    21. Atypical Progeroid Syndrome due to Heterozygous Missense LMNA Mutations 2009 · 115 citations
    22. Premature aging syndromes: From patients to mechanism Journal of dermatological science · 2019 · 29 citations
    23. Ocular manifestation in progeria: A case report Nepalese journal of ophthalmology · 2020
    24. Endoplasmic reticulum stress at the crossroads of progeria and atherosclerosis EMBO molecular medicine · 2019 · 11 citations
    25. 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
    26. Genetics of Progeria and Aging Elsevier eBooks · 2018
    27. Integration of Biochemical and Mechanical Signals at the Nuclear Periphery: Impacts on Skin Development and Disease Stem cell biology and regenerative medicine · 2018
    28. Nucleocytoplasmic Communication in Progeria Libra · 2014
    29. Inhibition of JAK-STAT Signaling with Baricitinib Reduces Inflammation and Improves Cellular Homeostasis in Progeria Cells Cells · 2019 · 51 citations
    30. Progeroide Syndrome Die Dermatologie · 2023 · 2 citations