The significant correspondence between neural excitability and investigatory activity in novel environments was demonstrated when studying in four selected rat strains. In order to explain this kind of correlated response, one should assume that the interstrain differences between other peripheral and central parts of neural system also exist.
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Genomic sequencing in diverse and underserved pediatric populations: parent perspectives on understanding, uncertainty, psychosocial impact, and personal utility of results.
Genet Med
January 2025
Genomics Ethics, and Translational Research Program, RTI International, Research Triangle Park, NC; Department of Translational and Applied Genomics, Kaiser Permanente Center for Health Research, Portland, OR. Electronic address:
Purpose: Limited evidence evaluates parents' perceptions of their child's clinical genomic sequencing (GS) results, particularly among individuals from medically underserved groups. Five Clinical Sequencing Evidence-Generating Research (CSER) consortium studies performed GS in children with suspected genetic conditions with high proportions of individuals from underserved groups to address this evidence gap.
Methods: Parents completed surveys of perceived understanding, personal utility, and test-related distress after GS result disclosure.
Dynamic Outlier Slicing Allows Broader Exploration of Adaptive Divergence: A Comparison of Individual Genome and Pool-Seq Data Linked to Humic Adaptation in Perch.
Mol Ecol
January 2025
Institute of Freshwater Research, Department of Aquatic Resources (SLU Aqua), Swedish University of Agricultural Sciences, Drottningholm, Sweden.
How genetic variation contributes to adaptation at different environments is a central focus in evolutionary biology. However, most free-living species still lack a comprehensive understanding of the primary molecular mechanisms of adaptation. Here, we characterised the targets of selection associated with drastically different aquatic environments-humic and clear water-in the common freshwater fish, Eurasian perch (Perca fluviatilis).
View Article and Find Full Text PDFAdaptive functioning in children and young adults with monogenic neurodevelopmental disorders.
Dev Med Child Neurol
January 2025
Speech and Language, Murdoch Children's Research Institute, Parkville, Victoria, Australia.
Aim: To examine the adaptive behaviour profiles of children with monogenic neurodevelopmental disorders (NDDs) to determine whether syndrome-specific or transdiagnostic approaches provide a better understanding of the adaptive behavioural phenotypes of these NDDs.
Method: This cross-sectional study included parents and caregivers of 243 (48% female) individuals (age range = 1-25 years; mean = 8 years 10 months, SD = 5 years 8 months) with genetically confirmed monogenic NDDs (CDK13, DYRK1A, FOXP2, KAT6A, KANSL1, SETBP1, BRPF1, and DDX3X). Parents and caregivers completed the Vineland Adaptive Behavior Scales, Third Edition to assess communication, daily living, socialization, and motor skills.
Ribosome profiling and single-cell RNA sequencing identify the unfolded protein response as a key regulator of pigeon lactation.
Zool Res
January 2025
National Key Laboratory for Swine Genetic Improvement and Germplasm Innovation, Ministry of Science and Technology of China, Jiangxi Agricultural University, Nanchang, Jiangxi 330045, China.
Pigeons and certain other avian species produce a milk-like secretion in their crop sacs to nourish offspring, yet the detailed processes involved are not fully elucidated. This study investigated the crop sacs of 225-day-old unpaired non-lactating male pigeons (MN) and males initiating lactation on the first day after incubation (ML). Using RNA sequencing, ribosome profiling, and single-cell transcriptome sequencing (scRNA-seq), we identified a significant up-regulation of genes associated with ribosome assembly and protein synthesis in ML compared to MN.
View Article and Find Full Text PDFMicroRNA Expression in High-Grade B-Cell Lymphoma With 11q Aberration.
Genes Chromosomes Cancer
January 2025
Institute of Human Genetics, Ulm University and Ulm University Medical Center, Ulm, Germany.
Mature aggressive B-cell lymphomas, such as Burkitt lymphoma (BL) and Diffuse large B-cell lymphoma (DLBCL), show variations in microRNA (miRNA) expression. The entity of High-grade B-cell lymphoma with 11q aberration (HGBCL-11q) shares several biological features with both BL and DLBCL but data on its miRNA expression profile are yet scarce. Hence, this study aims to analyze the potential differences in miRNA expression of HGBCL-11q compared to BL and DLBCL.
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