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Showing results for "Au"

Research

Fine-grained Fidgety Movement Classification using Active Learning

Typically 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.

Research

Disruption of cotranscriptional splicing suggests that RBM39 is a therapeutic target in acute lymphoblastic leukemia

There 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.

Research

Deletions in the CDKL5 5 untranslated region lead to CDKL5 deficiency disorder

Pathogenic 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. 

Research

Sex-Specific Effects of Birth Weight on Longitudinal Behavioral Outcomes: A Mendelian Randomization Approach Using Polygenic Scores

It 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. 

Research

Time series analysis of RSV and bronchiolitis seasonality in temperate and tropical Western Australia

Bronchiolitis hospitalisations are a reasonable proxy for the timing of RSV detections, but may not fully capture the magnitude of RSV epidemics

Research

Maternal Work–Family Conflict and Psychological Distress: Reciprocal Relationships Over 8 Years

Employed mothers may benefit from policies and workplace practices that promote maternal well-being and reduce conflicts between employment and raising children

Research

The -308 bp TNF gene polymorphism influences tumor necrosis factor expression in leprosy patients in Bahia State, Brazil

TNF mRNA expression was higher in leprosy patients compared to endemic controls, but did not differ significantly between clinical subgroups

Research

FANTOM5 CAGE profiles of human and mouse samples

Resulting data represents the consequence of transcriptional regulation in each analyzed state of mammalian cells.

Research

Obesity and associated factors in youth with an autism spectrum disorder

Prevalence of overweight/obesity in children and youth with autism spectrum disorder, and associations between weight status and range of factors

Research

On-the-fly selection of cell-specific enhancers, genes, miRNAs and proteins across the human body using SlideBase

SlideBase, 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