Results 21 to 30 of about 716,573 (292)

KCC2 expression levels are reduced in post mortem brain tissue of Rett syndrome patients

open access: yesActa Neuropathologica Communications, 2019
Rett Syndrome (RTT) is a neurodevelopmental disorder caused by mutations in the Methyl CpG binding protein 2 (MECP2) gene. Deficient K+-Cl—co-transporter 2 (KCC2) expression is suggested to play a key role in the neurodevelopmental delay in RTT patients’
Lisa Hinz   +2 more
doaj   +1 more source

Item-level analyses reveal genetic heterogeneity in neuroticism

open access: yesNature Communications, 2018
Neuroticism can be assessed as a composite score of individual items. Here, Nagel et al. perform genetic association studies for 12 neuroticism items and the sum-score and demonstrate genetic heterogeneity at the item-level.
Mats Nagel   +4 more
doaj   +1 more source

A preliminary evaluation of phenotypic traits of tepary bean (Phaseolus acutifolius A. Gray)

open access: yesJournal of Underutilised Crops Research, 2023
Background: Tepary bean (Phaseolus acutifolius A. Gray) is an underutilised grain legume crop and important source of food, nutrition and income. To date, there are no significant breeding efforts aimed at cultivar development and the crop remains under ...
Refilwe A. Nong   +2 more
doaj   +1 more source

Genetically-Informed Patient Selection for iPSC Studies of Complex Diseases May Aid in Reducing Cellular Heterogeneity

open access: yesFrontiers in Cellular Neuroscience, 2017
Induced pluripotent stem cell (iPSC) technology is more and more used for the study of genetically complex human disease but is challenged by variability, sample size and polygenicity.
Stephanie D. Hoekstra   +5 more
doaj   +1 more source

Functional mapping and annotation of genetic associations with FUMA

open access: yesNature Communications, 2017
Prioritizing genetic variants is a major challenge in genome-wide association studies. Here, the authors develop FUMA, a web-based bioinformatics tool that uses a combination of positional, eQTL and chromatin interaction mapping to prioritize likely ...
Kyoko Watanabe   +3 more
doaj   +1 more source

Harmonizing and Searching Macroinvertebrate Trait Information in Alpine Streams: Method and Application–A Case Study in the Three Parallel Rivers Region, China

open access: yesFrontiers in Ecology and Evolution, 2022
The traits of organisms provide critical information for understanding changes in biodiversity and ecosystem function at large scales. In recent years, trait databases of macroinvertebrates have been developed across continents.
Sicheng Ao   +10 more
doaj   +1 more source

By dawn or dusk—how circadian timing rewrites bacterial infection outcomes

open access: yesFEBS Letters, EarlyView.
The circadian clock shapes immune function, yet its influence on infection outcomes is only beginning to be understood. This review highlights how circadian timing alters host responses to the bacterial pathogens Salmonella enterica, Listeria monocytogenes, and Streptococcus pneumoniae revealing that the effectiveness of immune defense depends not only
Devons Mo   +2 more
wiley   +1 more source

Genome-wide association study results for educational attainment aid in identifying genetic heterogeneity of schizophrenia

open access: yesNature Communications, 2018
Educational attainment and schizophrenia have a negative phenotypic relationship but show positive genetic correlation. Here, the authors study genetic dependence between the two traits and find that multiple genes have pleiotropic effects on both ...
V. Bansal   +12 more
doaj   +1 more source

Screening for lung cancer: A systematic review of overdiagnosis and its implications

open access: yesMolecular Oncology, EarlyView.
Low‐dose computed tomography (CT) screening for lung cancer may increase overdiagnosis compared to no screening, though the risk is likely low versus chest X‐ray. Our review of 8 trials (84 660 participants) shows added costs. Further research with strict adherence to modern nodule management strategies may help determine the extent to which ...
Fiorella Karina Fernández‐Sáenz   +12 more
wiley   +1 more source

Reduced vascular leakage correlates with breast carcinoma T regulatory cell infiltration but not with metastatic propensity

open access: yesMolecular Oncology, EarlyView.
A mouse model for vascular normalization and a human breast cancer cohort were studied to understand the relationship between vascular leakage and tumor immune suppression. For this, endothelial and immune cell RNAseq, staining for vascular function, and immune cell profiling were employed.
Liqun He   +8 more
wiley   +1 more source

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