57 research outputs found
An assessment of land energy balance over East Asia from multiple lines of evidence and the roles of the Tibet Plateau, aerosols, and clouds
With high emissions of aerosols and the known world's “Third Pole” of the Tibet Plateau (TP) in East Asia, knowledge on the energy budget over this region has been widely concerned. This study first attempts to estimate the present-day land energy balance over East Asia by combining surface and satellite observations as well as the atmospheric reanalysis and Coupled Model Intercomparison Project Phase 6 (CMIP6) simulations. Compared to the global land budget, a substantially larger fraction of atmospheric shortwave radiation of 5.2 % is reflected, highly associated with the higher aerosol loadings and more clouds over East Asian land. While a slightly smaller fraction of atmospheric shortwave absorption of 0.6 % is unexpectedly estimated, possibly related to the lower water vapor content effects due to the thinner air over the TP to overcompensate for the aerosol and cloud effects over East Asian land. The weaker greenhouse effect and fewer low clouds due to the TP are very likely the causes of the smaller fraction of East Asian land surface downward longwave radiation. Hence, high aerosol loadings, clouds, and the TP over East Asia play vital roles in the shortwave budgets, while the TP is responsible for the longwave budgets during this regional energy budget assessment. The further obtained cloud radiative effects suggest that the presence of clouds results in a larger cooling effect on the climate system over East Asian land than that over the globe. This study provides a perspective to understand fully the roles of potential factors in influencing the different energy budget assessments over regions.</p
Identification of compound heterozygous variants in the noncoding RNU4ATAC gene in a Chinese family with two successive foetuses with severe microcephaly
Background: Whole-exome sequencing (WES) over the last few years has been increasingly employed for clinical
diagnosis. However, one caveat with its use is that it inevitably fails to detect disease-causative variants that occur
within noncoding RNA genes. Our experience in identifying pathogenic variants in the noncoding RNU4ATAC gene,
in a Chinese family where two successive foetuses had been affected by severe microcephaly, is a case in point.
These foetuses exhibited remarkably similar phenotypes in terms of their microcephaly and brain abnormalities;
however, the paucity of other characteristic phenotypic features had made a precise diagnosis impossible. Given
that no external causative factors had been reported/identified during the pregnancies, we sought a genetic cause
for the phenotype in the proband, the second affected foetus.
Results: A search for chromosomal abnormalities and pathogenic copy number variants proved negative. WES was
also negative. These initial failures prompted us to consider the potential role of RNU4ATAC, a noncoding gene
implicated in microcephalic osteodysplastic primordial dwarfism type-1 (MOPD1), a severe autosomal recessive
disease characterised by dwarfism, severe microcephaly and neurological abnormalities. Subsequent targeted
sequencing of RNU4ATAC resulted in the identification of compound heterozygous variants, one being the most
frequently reported MOPD1-causative mutation (51G>A), whereas the other was a novel 29T>A variant. Four
distinct lines of evidence (allele frequency in normal populations, evolutionary conservation of the affected nucleotide,
occurrence within a known mutational hotspot for MOPD1-causative variants and predicted effect on RNA secondary
structure) allowed us to conclude that 29T>A is a new causative variant for MOPD1.
Conclusions: Our findings highlight the limitations of WES in failing to detect variants within noncoding RNA genes
and provide support for a role for whole-genome sequencing as a first-tier genetic test in paediatric medicine.
Additionally, the identification of a novel RNU4ATAC variant within the mutational hotspot for MOPD1-causative variants
further strengthens the critical role of the 5′ stem-loop structure of U4atac in health and disease. Finally, this analysis
enabled us to provide prenatal diagnosis and genetic counselling for the mother’s third pregnancy, the first report of
its kind in the context of inherited RNU4ATAC variants
TP53-related signature for predicting prognosis and tumor microenvironment characteristics in bladder cancer: A multi-omics study
Background: The tumor suppressor gene TP53 is frequently mutated or inactivated in bladder cancer (BLCA), which is implicated in the pathogenesis of tumor. However, the cellular mechanisms of TP53 mutations are complicated, yet well-defined, but their clinical prognostic value in the management of BLCA remains controversial. This study aimed to explore the role of TP53 mutation in regulating the tumor microenvironment (TME), elucidate the effects of TP53 activity on BLCA prognosis and immunotherapy response.Methods: A TP53-related signature based on TP53-induced and TP53-repressed genes was used to construct a TP53 activity-related score and classifier. The abundance of different immune cell types was determined using CIBERSORT to estimate immune cell infiltration. Moreover, the heterogeneity of the tumor immune microenvironment between the high and low TP53 score groups was further evaluated using single-cell mass cytometry (CyTOF) and imaging mass cytometry (IMC). Moreover, pathway enrichment analysis was performed to explore the differential biological functions between tumor epithelial cells with high and low TP53 activity scores. Finally, the receptor–ligand interactions between immune cells and tumor epithelial cells harboring distinct TP53 activity were analyzed by single-cell RNA-sequencing.Results: The TP53 activity-related gene signature differentiated well between TP53 functional retention and inactivation in BLCA. BLCA patients with low TP53 scores had worse survival prognosis, more TP53 mutations, higher grade, and stronger lymph node metastasis than those with high TP53 scores. Additionally, CyTOF and IMC analyses revealed that BLCA patients with low TP53 scores exhibited a potent immunosuppressive TME. Consistently, single-cell sequencing results showed that tumor epithelial cells with low TP53 scores were significantly associated with high cell proliferation and stemness abilities and strongly interacted with immunosuppressive receptor–ligand pairs.Conclusion: BLCA patients with low TP53 scores have a worse prognosis and a more immunosuppressive TME. This TP53 activity-related signature can serve as a potential prognostic signature for predicting the immune response, which may facilitate the development of new strategies for immunotherapy in BLCA
Guizhi-Shaoyao-Zhimu decoction attenuates rheumatoid arthritis partially by reversing inflammation-immune system imbalance
Supporting data for" Oral health of preschool children in Shenzhen and prevention of decay in their primary teeth through the use of fluoride toothpaste"
The oral health survey aimed to investigate the dental caries situation and its associated factors among the preschool children in Shenzhen. The caries status’ part of the two clinical trial aimed to evaluate the effects of daily toothbrushing with fluoride toothpaste.The oral microbiome analysis of the two clinical trial was to investigate the relative abundance and changes in the diversity of oral microbiome in preschool children after using fluoride toothpaste in short and long period.The data contains the Excel sheets of children's dmft index by clinical examination and their parents' questionnaire result. Analysis of covariance was used to assess the associations between the children’s dmft and the potential risk factors. Analysis of the caries increment comparison between the test group and control group.The microbiome data contains ASV profiling, Alpha diversity, beta diversity, taxonomy community and different abundance analysis.</p
Influence of Rapid Thermal Annealing on the Characteristics of InGaN/GaN MQWs
N-type InGaN/GaN multiple-quantum-wells (MQWs) were grown on sapphire substrates by metal organic chemical vapor deposition (MOCVD). The crystal quality and optical properties of samples after rapid thermal annealing (RTA) at different temperatures in a range from 400 to 800°C are investigated by X-ray diffraction (XRD) and photoluminescence (PL) spectrum. The experimental results show that the peaks of InGaN, InN and In can be observed in all samples. And the results are induced by the phase separation and In-clusters. The luminescence peak of the samples annealed showed a red shift. It is caused by strain stress relaxation during the RTA process. Furthermore, some defects can be eliminated and the best annealing temperature is from 500°C to 700°C
Influence of Rapid Thermal Annealing on the Characteristics of InGaN/GaN MQWs
N-type InGaN/GaN multiple-quantum-wells (MQWs) were grown on sapphire substrates by metal organic chemical vapor deposition (MOCVD). The crystal quality and optical properties of samples after rapid thermal annealing (RTA) at different temperatures in a range from 400 to 800°C are investigated by X-ray diffraction (XRD) and photoluminescence (PL) spectrum. The experimental results show that the peaks of InGaN, InN and In can be observed in all samples. And the results are induced by the phase separation and In-clusters. The luminescence peak of the samples annealed showed a red shift. It is caused by strain stress relaxation during the RTA process. Furthermore, some defects can be eliminated and the best annealing temperature is from 500°C to 700°C
An Assessment of Short-term Global and East Asian Local Climate Feedbacks using New Radiative Kernels
High-resolution figure
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