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Application 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.
Prevalence of Microsatellite Instability in Gastric and Gastroesophageal Junction Cancer patients from a Latin American Country.
Gac Med Mex
January 2025
School of Medicine, Pontificia Universidad Javeriana.
Background: In Colombia, gastric cancer is fifth in incidence (12.8 cases per 100,000) and third in mortality (9.9 cases per 100,000).
View Article and Find Full Text PDFPrioritization of candidate genes regulating the dwarfness in rice by integration of whole-genome and transcriptome analyses.
Funct Integr Genomics
January 2025
Department of Plant Breeding and Genetics, Agricultural College and Research Institute, Madurai, Tamil Nadu, 625104, India.
Dwarfism is a major trait for developing lodging-resistant rice cultivars. Gamma irradiation-induced mutagenesis has proven to be an effective method for generating dwarf rice mutants. In this research, we isolated a dwarf mutant from Anna R (4) in the M generation and subsequently stabilized the trait through successive selfing of progeny across the M-M generations.
View Article and Find Full Text PDFSmall-scale genetic differentiation in mean flowering time, but not in plasticity, along a geothermal heating gradient.
Evolution
January 2025
Department of Ecology, Environment and Plant Sciences, Stockholm University, SE-106 91 Stockholm, Sweden.
Genetic differentiation in traits is assumed to frequently occur in response to divergent natural selection. For example, developmental traits might respond to differences in climate. However, little is known about when and at which spatial scales environmental differences lead to genetic differentiation, and to what extent there is genetic differentiation also in trait plasticity.
View Article and Find Full Text PDFAnalysis of a Series of 26 Cases With Prenatal Skeletal Dysplasia via Multiplatform Genetic Detection.
Mol Genet Genomic Med
January 2025
Prenatal Diagnosis Center, Langfang Maternal and Child Health Care Hospital, Langfang, Hebei, China.
Background: Skeletal dysplasia (SD) represents a series of highly heterogeneous congenital genetic diseases affecting the human skeletal system. Refined genetic diagnosis is helpful for the accurate diagnosis and prognosis evaluation of SDs.
Materials And Methods: In this study, we recruited 26 cases of SD and analyzed them with a designed sequential genetic detection.
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