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Progerin mRNA Is Associated with Smoking and Signs of Increased Microvascular Damage in Patients with Diabetic Macular Edema.
Int J Mol Sci
February 2025
Department of Internal Medicine III, Cardiology and Angiology, Medical University Innsbruck, 6020 Innsbruck, Austria.
The premature aging disease Hutchinson-Gilford Syndrome (HGPS) is caused by defined mutations in the LMNA gene, resulting in the activation of a cryptic splice donor site, which leads to a defective truncated prelamin A protein called progerin. Notably, progerin expression has also been detected in non-mutated healthy individuals, and therefore, its involvement in the physiological aging process has been widely discussed. Since diabetes mellitus is associated with premature aging and increased cardiovascular mortality, we aimed to investigate the role of progerin expression in patients with diabetic retinopathy (DR).
View Article and Find Full Text PDFCorrigendum: Exploring the impact of HDL and LMNA gene expression on immunotherapy outcomes in NSCLC: a comprehensive analysis using clinical & gene data.
Front Oncol
February 2025
Department of Oncology, Beijing Friendship Hospital, Capital Medical University, Beijing, China.
[This corrects the article DOI: 10.3389/fonc.2024.
View Article and Find Full Text PDFEMD missense variant causes X-linked isolated dilated cardiomyopathy with myocardial emerin deficiency.
Eur J Hum Genet
March 2025
Department of Clinical Genetics and Genomics, Sahlgrenska University Hospital, Gothenburg, Sweden.
Pathogenic variants in the EMD gene cause X-linked Emery-Dreifuss muscular dystrophy type 1 (EDMD1), typically presenting with joint contractures and skeletal muscle atrophy, followed by atrial arrhythmias, cardiac conduction defects, and atrial dilatation. Although an association with isolated dilated cardiomyopathy (DCM) has been suggested, evidence is currently insufficient to verify the gene-disease association. We investigated the causality of a missense variant, c.
View Article and Find Full Text PDFSequencing in over 50,000 cases identifies coding and structural variation underlying atrial fibrillation risk.
Nat Genet
March 2025
Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Atrial fibrillation (AF) is a prevalent and morbid abnormality of the heart rhythm with a strong genetic component. Here, we meta-analyzed genome and exome sequencing data from 36 studies that included 52,416 AF cases and 277,762 controls. In burden tests of rare coding variation, we identified novel associations between AF and the genes MYBPC3, LMNA, PKP2, FAM189A2 and KDM5B.
View Article and Find Full Text PDFAdenine base editing rescues pathogenic phenotypes in tissue engineered vascular model of Hutchinson-Gilford progeria syndrome.
APL Bioeng
March 2025
Department of Biomedical Engineering, Duke University, Durham, North Carolina 27708, USA.
The rare, accelerated aging disease Hutchinson-Gilford Progeria Syndrome (HGPS) is commonly caused by a c.1824 C > T point mutation of the gene that results in the protein progerin. The primary cause of death is a heart attack or stroke arising from atherosclerosis.
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