Working memory is an essential component of wide-ranging cognitive functions. It is a complex genetic trait probably influenced by numerous genes that individually have only a small influence. These genes may have an amplified influence on phenotypes closer to the gene action. In this study, event-related potential (ERP) phenotypes recorded during a working-memory task were collected from 656 adolescents from 299 families for whom genotypes were available. Univariate linkage analyses using the MERLIN variance-components method were conducted on slow wave phenotypes recorded at multiple sites while participants were required to remember the location of a target. Suggestive linkage (LOD > 2.2) was found on chromosomes 4, 5, 6, 10, 17, and 20. After correcting for multiple testing, suggestive linkage remained on chromosome 10. Empirical thresholds were computed for the most promising phenotypes. Those on chromosome 10 remained suggestive. A number of genes reported to regulate neural differentiation and function (i.e. NRP1, ANK3, and CHAT) were found under these linkage peaks and may influence the levels of neural activity occurring in individuals participating in a spatial working-memory task.
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http://dx.doi.org/10.1007/s10519-005-9002-2 | DOI Listing |
Electronic health records (EHRs) contain rich temporal data about infectious diseases, but an optimal approach to identify infections remains undefined. Using the Research Program, we developed computable phenotypes for respiratory viruses by integrating billing codes, prescriptions, and laboratory results within 90-day episodes. Phenotypes computed from 265,222 participants yielded cohorts ranging from 238 (adenovirus) to 28,729 (SARS-CoV-2) cases.
View Article and Find Full Text PDFSci Rep
January 2025
Department of Horticultural Science, Faculty of Agriculture, University of Maragheh, Maragheh, Iran.
Considering the significance of fenugreek as a valuable medicinal and food plant, assessing the genetic diversity of different populations of this species is essential for optimizing performance and adaptability to environmental conditions. This study aims to investigate genetic diversity and identify important phenotypic traits in various Iranian fenugreek accessions ("Mashhad", "Tehran", "Yazd", "Shiraz", "Birjand", "Isfahan", "Kerman", "Kalat", "Neyshabur"), an experiment was conducted in a randomized complete block design with three replications and nine treatments (accessions) in Iran. The results showed that the highest seed yield was observed in "Kalat" (120.
View Article and Find Full Text PDFJ Biomed Inform
January 2025
Harvard T.H. Chan School of Public Health, 677 Huntington Ave, Boston, 02115, MA, USA; VA Boston Healthcare System, 150 S Huntington Ave, Boston, 02130, MA, USA. Electronic address:
Objective: Electronic health record (EHR) systems contain a wealth of clinical data stored as both codified data and free-text narrative notes (NLP). The complexity of EHR presents challenges in feature representation, information extraction, and uncertainty quantification. To address these challenges, we proposed an efficient Aggregated naRrative Codified Health (ARCH) records analysis to generate a large-scale knowledge graph (KG) for a comprehensive set of EHR codified and narrative features.
View Article and Find Full Text PDFJ Adv Res
January 2025
Department of Military Cognitive Psychology, School of Psychology, Third Military Medical University (Army Medical University), Chongqing, China. Electronic address:
Introduction: Autism spectrum disorder (ASD) represents a multifaceted set of neurodevelopmental conditions marked by social deficits and repetitive behaviors. Astragaloside IV (ASIV), a natural compound derived from the traditional Chinese herb Astragali Radix, exhibits robust neuroprotective effects. However, whether ASIV can ameliorate behavioral deficits in ASD remains unknown.
View Article and Find Full Text PDFPediatr Nephrol
January 2025
Pediatric Nephrology Services, Department of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Pondicherry, 605006, India.
Background: Limited research exists regarding the genetic profile, clinical characteristics, and outcomes of refractory rickets in children from India.
Methods: Patients with refractory rickets aged ≤ 18 years were enrolled. Data regarding clinical features, etiology, genotype-phenotype correlation, and estimated glomerular filtration rate (eGFR) were recorded.
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