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The Splice Index as a prognostic biomarker of strength and function in myotonic dystrophy type 1.
J Clin Invest
January 2025
Center for Inherited Myology Research, Virginia Commonwealth University, Richmond, United States of America.
Background: Myotonic dystrophy type 1 (DM1) is a multisystemic, CTG repeat expansion disorder characterized by a slow, progressive decline in skeletal muscle function. A biomarker correlating RNA mis-splicing, the core pathogenic disease mechanism, and muscle performance is crucial for assessing response to disease-modifying interventions. We evaluated the Myotonic Dystrophy Splice Index (SI), a composite RNA splicing biomarker incorporating 22 disease-specific events, as a potential biomarker of DM1 muscle weakness.
View Article and Find Full Text PDFMitochondrial DNA variants in the pathogenesis and metabolic alterations of diabetes mellitus.
Mol Genet Metab Rep
March 2025
Department of Biochemistry, JSS Medical College and Hospital, JSS-AHER, Mysuru 570015, India.
Mitochondrial DNA (mtDNA) variants considerably affect diabetes mellitus by disturbing mitochondrial function, energy metabolism, oxidative stress response, and even insulin secretion. The m.3243 A > G variants is associated with maternally inherited diabetes and deafness (MIDD), where early onset diabetes and hearing loss are prominent features.
View Article and Find Full Text PDFKinship clustering within an ecologically diverse killer whale metapopulation.
Heredity (Edinb)
January 2025
Centre for Ecological and Evolutionary Synthesis, Department of Biosciences, University of Oslo, Oslo, Norway.
Metapopulation dynamics can be shaped by foraging ecology, and thus be sensitive to shifts in prey availability. Genotyping 204 North Atlantic killer whales at 1346 loci, we investigated whether spatio-temporal population structuring is linked to prey type and distribution. Using population-based methods (reflecting evolutionary means), we report a widespread metapopulation connected across ecological groups based upon nuclear genome SNPs, yet spatial structuring based upon mitogenome haplotypes.
View Article and Find Full Text PDFApplication of the 6-SNP elevated LDL-cholesterol polygenic risk score in individuals with familial hypercholesterolemia phenotype from an Argentine population.
Gac Med Mex
January 2025
Universidad de Buenos Aires, Facultad de Farmacia y Bioquímica, Departamento de Bioquímica Clínica, Laboratorio de Lípidos y Aterosclerosis, Ciudad Autónoma de Buenos Aires.
Introduction: LDL-cholesterol greater than 190 mg/dL indicates severe hypercholesterolemia (HS) of monogenic and/or polygenic origin. Genetic risk scores (GRS) evaluate potential polygenic causes.
Objective: we applied a GRS of 6-SNP (GRS-6) in HS individuals.
Does p-lactate increase in patients with GSD1 after ingesting a meal with common-size sources of fructose and galactose? Observations from a prospective, non-blinded, crossover pilot study.
JIMD Rep
January 2025
Department of Pediatrics, Center for Inherited Metabolic Diseases Copenhagen University Hospital, Rigshospitalet Copenhagen Denmark.
Ingestion of fructose and galactose may result in elevated lactate concentrations in patients with glycogen storage disease type 1 (GSD1). In this randomized cross-over pilot study, 7 patients with GSD 1a (6) and GSD1b (1) orally consumed a common-size fructose and galactose from either 200 mL of skimmed milk, 200 mL juice or 200 mL water. This was given after a night with their usual dietary treatment using either cornstarch, glycosade or continuous feed.
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