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Research
Fine-grained Fidgety Movement Classification using Active LearningTypically developing infants, between the corrected age of 9-20 weeks, produce fidgety movements. These movements can be identified with the General Movement Assessment, but their identification requires trained professionals to conduct the assessment from video recordings.
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Disruption of cotranscriptional splicing suggests that RBM39 is a therapeutic target in acute lymphoblastic leukemiaThere are few options for patients with relapse/refractory B-cell acute lymphoblastic leukemia, thus this is a major area of unmet medical need. Here, we reveal that inclusion of a poison exon in RBM39, which could be induced both by CDK9 or CDK9 independent CMGC (cyclin-dependent kinases, mitogen-activated protein kinases, glycogen synthase kinases, CDC-like kinases) kinase inhibition, is recognized by the nonsense-mediated mRNA decay pathway for degradation.
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Deletions in the CDKL5 5 untranslated region lead to CDKL5 deficiency disorderPathogenic variants in the cyclin-dependent kinase-like 5 (CDKL5) gene are associated with CDKL5 deficiency disorder (CDD), a severe X-linked developmental and epileptic encephalopathy.
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Sex-Specific Effects of Birth Weight on Longitudinal Behavioral Outcomes: A Mendelian Randomization Approach Using Polygenic ScoresIt is unclear whether sex differences in behavior arising from birth weight (BW) are genuine because of the cross-sectional nature and potential confounding in previous studies. We aimed to test whether sex differences associated with BW phenotype were reproducible using a Mendelian randomization approach, i.e., association between polygenic score (PGS) for BW and behavior outcomes across childhood and adolescence.
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Time series analysis of RSV and bronchiolitis seasonality in temperate and tropical Western AustraliaBronchiolitis hospitalisations are a reasonable proxy for the timing of RSV detections, but may not fully capture the magnitude of RSV epidemics
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Maternal Work–Family Conflict and Psychological Distress: Reciprocal Relationships Over 8 YearsEmployed mothers may benefit from policies and workplace practices that promote maternal well-being and reduce conflicts between employment and raising children
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The -308 bp TNF gene polymorphism influences tumor necrosis factor expression in leprosy patients in Bahia State, BrazilTNF mRNA expression was higher in leprosy patients compared to endemic controls, but did not differ significantly between clinical subgroups
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FANTOM5 CAGE profiles of human and mouse samplesResulting data represents the consequence of transcriptional regulation in each analyzed state of mammalian cells.
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Obesity and associated factors in youth with an autism spectrum disorderPrevalence of overweight/obesity in children and youth with autism spectrum disorder, and associations between weight status and range of factors
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On-the-fly selection of cell-specific enhancers, genes, miRNAs and proteins across the human body using SlideBaseSlideBase, a web tool which offers a new way of selecting genes, promoters, enhancers and microRNAs that are preferentially expressed/used in a specified set of cells/tissues