Search Results - "Tesson, Frederique"
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A CRISPR/Cas9 zebrafish lamin A/C mutant model of muscular laminopathy
Published in Developmental dynamics (01-04-2022)“…Background Lamin A/C gene (LMNA) mutations frequently cause cardiac and/or skeletal muscle diseases called striated muscle laminopathies. We created a…”
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ACSL5 genotype influence on fatty acid metabolism: a cellular, tissue, and whole-body study
Published in Metabolism, clinical and experimental (01-06-2018)“…Acyl-CoA Synthetase Long Chain 5 (ACSL5) gene's rs2419621 T/C polymorphism was associated with ACSL5 mRNA expression and response to lifestyle interventions…”
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Somatic Mutations in the Connexin 40 Gene (GJA5) in Atrial Fibrillation
Published in The New England journal of medicine (22-06-2006)“…In 4 of 15 patients with idiopathic atrial fibrillation, four novel, heterozygous mutations in GJA5 — the gene for the gap-junction protein connexin 40 — were…”
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Lamin A/C and cardiac diseases
Published in Current opinion in cardiology (01-05-2006)“…PURPOSE OF REVIEWIn this review, we will outline the most recent and significant findings on the role of the lamin A/C in cardiac diseases. RECENT…”
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Lamin A/C mutants disturb sumo1 localization and sumoylation in vitro and in vivo
Published in PloS one (21-09-2012)“…A-type lamins A and C are nuclear intermediate filament proteins in which mutations have been implicated in multiple disease phenotypes commonly known as…”
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Cellular and Animal Models of Striated Muscle Laminopathies
Published in Cells (Basel, Switzerland) (29-03-2019)“…The lamin A/C ( ) gene codes for nuclear intermediate filaments constitutive of the nuclear lamina. has 12 exons and alternative splicing of exon 10 results in…”
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Lamin A/C mutations in dilated cardiomyopathy
Published in Cardiology journal (01-01-2014)“…Dilated cardiomyopathy (DCM) is one of the leading causes of heart failure and heart transplant. Mutations in 60 genes have been associated with DCM…”
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Decreased Mitochondrial Proton Leak and Reduced Expression of Uncoupling Protein 3 in Skeletal Muscle of Obese Diet-Resistant Women
Published in Diabetes (New York, N.Y.) (01-08-2002)“…Decreased Mitochondrial Proton Leak and Reduced Expression of Uncoupling Protein 3 in Skeletal Muscle of Obese Diet-Resistant Women Mary-Ellen Harper 1 ,…”
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Protein Kinase C Alpha Cellular Distribution, Activity, and Proximity with Lamin A/C in Striated Muscle Laminopathies
Published in Cells (Basel, Switzerland) (01-11-2020)“…Striated muscle laminopathies are cardiac and skeletal muscle conditions caused by mutations in the lamin A/C gene ( ). codes for the A-type lamins, which are…”
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The TaqIA RFLP is associated with attenuated intervention-induced body weight loss and increased carbohydrate intake in post-menopausal obese women
Published in Appetite (01-01-2013)“…Polymorphisms of the dopamine receptor D2 (DRD2) gene have been associated with obesity phenotypes. Our aim was to examine if the genotype of TaqIA Restriction…”
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Acyl-CoA synthetase long-chain 5 genotype is associated with body composition changes in response to lifestyle interventions in postmenopausal women with overweight and obesity: a genetic association study on cohorts Montréal-Ottawa New Emerging Team, and Complications Associated with Obesity
Published in BMC medical genetics (11-08-2016)“…Genetic studies on Acyl-CoA Synthetase Long-Chain 5 (ACSL5) demonstrate an association between rs2419621 genotype and rate of weight loss in women with obesity…”
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Genetic and ultrastructural studies in dilated cardiomyopathy patients: a large deletion in the lamin A/C gene is associated with cardiomyocyte nuclear envelope disruption
Published in Basic research in cardiology (01-05-2010)“…Major nuclear envelope abnormalities, such as disruption and/or presence of intranuclear organelles, have rarely been described in cardiomyocytes from dilated…”
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Can Circulating Cardiac Biomarkers Be Helpful in the Assessment of LMNA Mutation Carriers?
Published in Journal of clinical medicine (12-05-2020)“…Mutations in the lamin A/C gene are variably phenotypically expressed; however, it is unclear whether circulating cardiac biomarkers are helpful in the…”
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Peroxisome Proliferator-activated Receptor γ 2 and Acyl-CoA Synthetase 5 Polymorphisms Influence Diet Response
Published in Obesity (Silver Spring, Md.) (01-05-2007)“…Peroxisome proliferator-activated receptor γ (PPARγ) and its response gene, Acyl CoA synthetase 5 (ACSL5), which has an important role in fatty acid…”
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Still Building on Candidate-Gene Strategy in Hypertension?
Published in Hypertension (Dallas, Tex. 1979) (01-10-2007)Get full text
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A new c.1621 C>G, p.R541G lamin A C mutation in a family with DCM and regional wall motion abnormalities (akinesis dyskinesis): genotype-phenotype correlation
Published in Journal of human genetics (01-01-2011)“…Mutations in the lamin A/C gene (LMNA) are established causes of familial dilated cardiomyopathy (DCM) with atrio-ventricular block although relatively little…”
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Functional characterization of a promoter polymorphism that drives ACSL5 gene expression in skeletal muscle and associates with diet-induced weight loss
Published in The FASEB journal (01-06-2009)“…Diet-induced weight loss is affected by a wide range of factors, including genetic variation. Identifying functional polymorphisms will help to elucidate…”
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Genotype-specific weight loss treatment advice: how close are we?
Published in Applied physiology, nutrition, and metabolism (01-06-2007)“…Obesity, whose prevalence is continually rising, is one of the world's greatest health care burdens. This multifactorial condition is associated with many…”
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Diagnostic value of electrocardiography and echocardiography for familial hypertrophic cardiomyopathy in a genotyped adult population
Published in Circulation (New York, N.Y.) (01-07-1997)“…The diagnostic value of ECG and echocardiography for familial hypertrophic cardiomyopathy (FHC) has not been reassessed since the development of molecular…”
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Effects of Exercise Training on Molecular Markers of Lipogenesis and Lipid Partitioning in Fructose-Induced Liver Fat Accumulation
Published in Journal of nutrition and metabolism (01-01-2012)“…The present study was designed to investigate the impact of exercise training on lipogenic gene expression in liver and lipid partitioning following the…”
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