Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.G608G
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LMNA

NM_170707.4:p.G608G

Associated Papers

Transcriptional profiling of Hutchinson-Gilford progeria patients identifies primary target pathways of progerin.

Vidak S et al.

Nucleus (austin, Tex.), 2026

Telomere shortening in laminopathic dilated cardiomyopathy.

Chang ACY et al.

Npj Regenerative Medicine, 2026

Gene-based Therapies for Genetic Cardiomyopathies: Molecular Medicine for Heart Disease.

Sharma S et al.

The Canadian Journal of Cardiology, 2026

The unfolded protein response in progeria arteries originates from non-endothelial cell types.

Silva RA et al.

Life Science Alliance, 2026

GA4GH phenopacket-driven characterization of genotype-phenotype correlations in Mendelian disorders.

Rekerle L et al.

American Journal of Human Genetics, 2026

Vascular cell types in progeria: victims or villains?

Benedicto I et al.

Trends in Molecular Medicine, 2026

Lipid Metabolism Alterations in Hereditary Inorganic Pyrophosphate Deficiency Syndromes: A Narrative Review of Insights and Controversies.

Derudder R et al.

Journal of Inherited Metabolic Disease, 2026

Selection of specific and efficient siRNAs in new cellular model for Hutchinson-Gilford progeria syndrome therapy.

Dzianisava V et al.

Molecular Therapy. Nucleic Acids, 2025

Lonafarnib Clinical Trials Demonstrate Uncoupling of the Muscle-Bone Unit in Hutchinson-Gilford Progeria Syndrome.

Kreienkamp RJ et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2025

Baricitinib Augments Lonafarnib Therapy to Preserve Colonic Homeostasis and Microbial Balance in a Mouse Model of Progeria.

Schroll M et al.

Aging Cell, 2025

miR-140-5p Overexpression Contributes to Oxidative Stress and Mitochondrial Dysfunction in Hutchinson-Gilford Progeria Syndrome Fibroblasts Through NRF2 Pathway.

Toury L et al.

Aging Cell, 2025

Vascular organoid model of Hutchinson-Gilford progeria syndrome uncovers repression of the SRF pathway in premature aging.

Sun X et al.

Developmental Cell, 2025

The systemic wrinkled skin phenotype involves aberrant expression and variation of genes related to the oxidative stress and extracellular matrix in Xiang pigs.

Hu F et al.

Bmc Genomics, 2025

The Converging Roles of Nucleases and Helicases in Genome Maintenance and the Aging Process.

Margariti A et al.

Life (basel, Switzerland), 2025

LMNA-related cardiomyopathy: From molecular pathology to cardiac gene therapy.

Wang Z et al.

Journal of Advanced Research, 2025

Counteracting lysosome defects alleviates the cellular senescence of Hutchinson-Gilford progeria syndrome.

Wang X et al.

Science China. Life Sciences, 2025

Genetically Confirmed Familial Case of Nonsyndromic Cardiac Progeria Caused by the LMNA p.Asp300Asn Variant with Presumed Gonadal Mosaicism: Phenotypic Comparison with Previously Reported Patients.

Nuzhnaya E et al.

Genes, 2025

POLR3A mutations cause nucleolus abnormalities and aberrant telomerase RNA metabolism in induced pluripotent stem cells from Wiedemann-Rautenstrauch premature aging syndrome patient.

Orlova EA et al.

Biogerontology, 2025

Rare case of longevity in Hutchinson-Gilford progeria syndrome and literature review.

Cai XL et al.

Orphanet Journal of Rare Diseases, 2025

Manipulation of the nucleoscaffold potentiates cellular reprogramming kinetics.

Yang BA et al.

Pnas Nexus, 2025

Generation of Nonintegrative-Induced Pluripotent Stem Cells in Hutchinson-Gilford Progeria Syndrome: Enhancing Aging Research.

Kadiwala J et al.

Aging Medicine (milton (n.s.w)), 2025

A longevity-associated variant of the human BPIFB4 gene prevents diastolic dysfunction in progeria mice.

Qiu Y et al.

Signal Transduction and Targeted Therapy, 2025

41022702 (PubMed )
Supplement: 41392_2025_2416_MOESM1_ESM.docx

Unraveling the mysteries of Hutchinson-Gilford progeria syndrome: a comprehensive review of LMNA gene mutations.

Zhou X et al.

Biogerontology, 2025

Transcriptional profiling of Hutchinson-Gilford Progeria patients identifies primary target pathways of progerin.

Vidak S et al.

Biorxiv : the Preprint Server for Biology, 2025

Genomic insights into the demographic history and local adaptation of wild boars across Eurasia.

Wang Z et al.

Cell Genomics, 2025

40712570 (PubMed )
Supplement: mmc4.xlsx › Table_S7

Precise progerin targeting using RfxCas13d: A therapeutic avenue for Hutchinson-Gilford progeria syndrome.

Chae U et al.

Molecular Therapy : the Journal of the American Society of Gene Therapy, 2025

Therapeutic RNA cleavage with RfxCas13d in Hutchinson-Gilford progeria syndrome.

Zheng C

Molecular Therapy : the Journal of the American Society of Gene Therapy, 2025

Patient-Derived Cortical Organoids Reveal Senescence of Neural Progenitor Cells in Hutchinson-Gilford Progeria Syndrome.

Jeon S et al.

Aging Cell, 2025

Involvement of NRF2 and AMPK signaling in aging and progeria: a digest.

Petsouki E et al.

Redox Biology, 2025

ClinGen Variant Curation Interface Workshops: Training Variant Scientists on an International Platform.

Ritter DI et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

Deregulated miR-145 and miR-27b in Hutchinson-Gilford progeria syndrome: implications for adipogenesis.

Fenzl FQ et al.

Aging, 2025

Nicotinamide Mononucleotide Alleviates Aging Defects in Hutchinson-Gilford Progeria Syndrome.

Xu Y et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2025

Impact of miR-181a on SIRT1 Expression and Senescence in Hutchinson-Gilford Progeria Syndrome.

Lederer EM et al.

Diseases (basel, Switzerland), 2025

A noncanonical cGAS-STING pathway drives cellular and organismal aging.

Cancado de Faria R et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

National survey of Hutchinson-Gilford progeria syndrome and progeroid laminopathy in Japan.

Okawa Y et al.

Aging, 2025

Sclerotic skin in Hutchinson-Gilford progeria syndrome: Reversible senescent phenotype.

Kwak D et al.

Journal Der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : Jddg, 2025

Assessing the Efficacy of Small Molecule Drugs in Hutchinson-Gilford Progeria Syndrome: A Review of Clinical Trials.

Desai D et al.

Reviews on Recent Clinical Trials, 2025

The anti-senescence effect of D-β-hydroxybutyrate in Hutchinson-Gilford progeria syndrome involves progerin clearance by the activation of the AMPK-mTOR-autophagy pathway.

Monterrubio-Ledezma F et al.

Geroscience, 2025

Recurrent somatic mutation and progerin expression in early vascular aging of chronic kidney disease.

Revêchon G et al.

Nature Aging, 2025

Investigating telomere length in progeroid syndromes: implications for aging disorders.

Srour L et al.

Aging, 2025

Targeting CRM1 for Progeria Syndrome Therapy.

Soto-Ponce A et al.

Aging Cell, 2025

RNA-coupled CRISPR Screens Reveal ZNF207 as a Regulator of LMNA Aberrant Splicing in Progeria.

Behera AK et al.

Biorxiv : the Preprint Server for Biology, 2025

Mesenchymal Stem Cell Therapy for Hutchinson-Gilford Progeria: Improvements in Arterial Stiffness and Bone Mineral Density in a Single Case.

Joo EY et al.

Children (basel, Switzerland), 2025

Adenine base editing rescues pathogenic phenotypes in tissue engineered vascular model of Hutchinson-Gilford progeria syndrome.

Abutaleb NO et al.

Apl Bioengineering, 2025

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."