129 research outputs found
Using New Technologies for Time Diary Data Collection: Instrument Design and Data Quality Findings from a Mixed-Mode Pilot Survey
Mutations in the RNA Granule Component TDRD7 Cause Cataract and Glaucoma
The precise transcriptional regulation of gene expression is essential for vertebrate development, but the role of posttranscriptional regulatory mechanisms is less clear. Cytoplasmic RNA granules (RGs) function in the posttranscriptional control of gene expression, but the extent of RG involvement in organogenesis is unknown. We describe two human cases of pediatric cataract with loss-of-function mutations in TDRD7 and demonstrate that Tdrd7 nullizygosity in mouse causes cataracts, as well as glaucoma and an arrest in spermatogenesis. TDRD7 is a Tudor domain RNA binding protein that is expressed in lens fiber cells in distinct TDRD7-RGs that interact with STAU1-ribonucleoproteins (RNPs). TDRD7 coimmunoprecipitates with specific lens messenger RNAs (mRNAs) and is required for the posttranscriptional control of mRNAs that are critical to normal lens development and to RG function. These findings demonstrate a role for RGs in vertebrate organogenesis
Design, development and validation of a model of problem solving for Egyptian Science classes
Educators and policymakers envision the future of education in Egypt as enabling learners to acquire scientific inquiry and problem-solving skills. In this article, we describe the validation of a model for problem solving and the design of instruments for evaluating new teaching methods in Egyptian science classes. The instruments were based on an established model for problem solving and were designed to assess seventh grade students’ problem solving, experimental strategy knowledge, achievement and motivation towards science. The test for assessing students’ knowledge has been developed based on the topic, density and buoyancy which will be taught in seventh grade in a later intervention study. The instruments were partly self-developed and partly adapted from newly performed studies on strategy knowledge and problem solving in Germany. All instruments were translated into Arabic; the translation process and quality control are described. In order to determine the quality of the instruments, 44 students in Egypt completed the questionnaires and tests. The study’s aim to develop and validate the instruments did require an ad hoc and typical sample which was drawn from an accessible population. Accordingly, the characteristics of the sample are described. Data were analysed according to the classical test theory, but to underpin the results, the instruments were additionally analysed using the even stronger Rasch model. The findings demonstrated the reliability of the items and aspects of validity. In addition, this study showed how test items can be successfully developed and adapted in an international study and applied in a different language
Linking early-life NMDAR hypofunction and oxidative stress in schizophrenia pathogenesis.
Molecular, genetic and pathological evidence suggests that deficits in GABAergic parvalbumin-positive interneurons contribute to schizophrenia pathophysiology through alterations in the brain's excitation-inhibition balance that result in impaired behaviour and cognition. Although the factors that trigger these deficits are diverse, there is increasing evidence that they converge on a common pathological hub that involves NMDA receptor hypofunction and oxidative stress. These factors have been separately linked to schizophrenia pathogenesis, but evidence now suggests that they are mechanistically interdependent and contribute to a common schizophrenia-associated pathology
The Formation of the Bicoid Morphogen Gradient Requires Protein Movement from Anteriorly Localized mRNA
New quantitative data show that the Bicoid morphogen gradient is generated from a dynamic localized source and that protein gradient formation requires protein movement along the anterior-posterior axis
Alternative parameterizations of relatedness in whole genome association analysis of pre-weaning traits of Nelore-Angus calves
FDG-PET and other imaging modalities for the evaluation of breast cancer recurrence and metastases: a meta-analysis
Impact on Drug Safety of Variation in Adherence: The Need for Routinely Reporting Measures of Dose Intensity in Medication Safety Studies Using Electronic Health Data
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