GSA-Human: Genome Sequence Archive for Human.

The Genome Sequence Archive for Human (GSA-Human) is a data repository specialized for human genetic related data derived from biomedical researches, and also supports the data collection and management of National Key Research and Development Projects. GSA-Human has a data security management strategy according to the national regulations of human genetic resources. It provides two different models of data access: Open-access and Controlled-access. Open-access data are universally and freely accessible for global researchers, while Controlled-access ensures that data are accessed only by authorized users with the permission of the Data Access Committee (DAC). Till July 2021, GSA-Human has housed more than 5.27 PB of data from 750 datasets.

Triptycene-based Chiral Porous Polyimides for Enantioselective Membrane Separation.

Enantiomers of 2, 6-diaminotriptycene (R, R-1 and S, S-1) are split by chiral-phase HPLC and their absolute configurations are identified by single-crystal X-ray diffraction technology. Using the enantiomers as monomers, a couple of chiral porous polyimides (R-FTPI and S-FTPI) are prepared by polycondensation reactions and display good heat stability, high BET surface area and good solubility in organic solvents. Moreover, both of R-FTPI and S-FTPI can be cast into robust, free-standing films suitable for enantioselective separation with symmetrical chiral selectivity.

C-C Bond Activation of Cyclopropanes Enabled by Phosphine-Catalyzed In Situ Formation of High-Strain Methylenecycopropane Intermediate.

An effective strategy for the ring-opening/elaboration of cyclopropanes by phosphine catalyst is documented, providing the 2,4-pentadiene sulfonamides and isoindolines in moderate to good yields. The key to the success of this reaction is phosphine-catalyzed introduction of a trigonal center into cyclopropanes, which results in the formation of higher ring strain cyclopropylidenemethyl phosphonium salt. Moreover, this methodology is employed as the key step for the synthesis of bioactive molecules.

TMED2/9/10 Serve as Biomarkers for Poor Prognosis in Head and Neck Squamous Carcinoma.

Background: Head and neck squamous carcinoma (HNSC) is one of the most common malignant tumors with high incidence and poor prognosis. Transmembrane emp24 structural domain (TMED) proteins are involved in protein transport and vesicle budding processes, which have implicated various malignancies' progression. However, the roles of TMEDs in HNSC, especially in terms of development and prognosis, have not been fully elucidated. Methods: We applied TIMER 2.0, UALCAN, GEPIA 2, Kaplan-Meier plotter, GEO, The Human Protein Atlas (HPA), cBioPortal, Linkedomics, Metascape, GRNdb, STRING, and Cytoscape to investigate the roles of TMED family members in HNSC. Results: Compared with normal tissues, the mRNA expression levels of TMED1/2/4/5/7/8/9/10 were significantly increased in the TCGA HNSC dataset. And we combined GEPIA 2 and Kaplan-Meier Plotter to select TMED2/9/10 with prognostic value. Then we detected the levels of mRNA in the GEO HNSC database and the protein expression in HPA. It was found that the mRNA and protein expression levels of TMED2/9/10 were increased in HNSC. Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) analysis showed that TMED2/9/10 and their co-expressed genes promoted the malignant behavior of tumors by participating in biological processes such as intracellular transferase complex, protein transport, focal adhesion, intracellular protein processing. Single-cell analysis and immune infiltration analysis suggested that immune responses of cancer-associated fibroblasts and endothelial cells might be associated with prognosis. Finally, the transcription factors-genes network and protein-protein functional interaction network pointed to genes such as X-box binding protein 1 (XBP1) and TMED7, which might cooperate with TMED2/9/10 to change the progression of HNSC. Conclusions: Our study implied that TMED2/9/10 and related genes mightjointly affect the prognosis of HNSC, providing specific clues for further experimental research, personalized diagnosis strategies, and targeted clinical therapy for HNSC.

Protective Effect of Quercetin in LPS-Induced Murine Acute Lung Injury Mediated by cAMP-Epac Pathway.

Quercetin (Que) as an abundant flavonol element possesses potent antioxidative properties and has protective effect in lipopolysaccharide (LPS)-induced acute lung injury (ALI), but the specific mechanism is still unclear, so we investigated the effect of Que from in vivo and in vitro studies and the related mechanism of cAMP-PKA/Epac pathway. The results in mice suggested that Que can inhibit the release of inflammatory cytokine, block neutrophil recruitment, and decrease the albumin leakage in dose-dependent manners. At the same time, Que can increase the cAMP content of lung tissue, and Epac content, except PKA. The results in epithelial cell (MLE-12) suggested that Que also can inhibit the inflammatory mediators keratinocyte-derived chemokines release after LPS stimulation; Epac inhibitor ESI-09 functionally antagonizes the inhibitory effect of Que; meanwhile, PKA inhibitor H89 functionally enhances the inhibitory effect of Que. Overexpression of Epac1 in MLE-12 suggested that Epac1 enhance the effect of Que. All those results suggested that the protective effect of quercetin in ALI is involved in cAMP-Epac pathway.

Epidemiology, quality and reporting characteristics of meta-analyses of observational studies published in Chinese journals.

OBJECTIVE: The aim of this study was to examine the epidemiological and reporting characteristics as well as the methodological quality of meta-analyses (MAs) of observational studies published in Chinese journals. METHODS: 5 Chinese databases were searched for MAs of observational studies published from January 1978 to May 2014. Data were extracted into Excel spreadsheets, and Meta-analysis of Observational Studies in Epidemiology (MOOSE) and Assessment of Multiple Systematic Reviews (AMSTAR) checklists were used to assess reporting characteristics and methodological quality, respectively. RESULTS: A total of 607 MAs were included. Only 52.2% of the MAs assessed the quality of the included primary studies, and the retrieval information was not comprehensive in more than half (85.8%) of the MAs. In addition, 50 (8.2%) MAs did not search any Chinese databases, while 126 (20.8%) studies did not search any English databases. Approximately 41.2% of the MAs did not describe the statistical methods in sufficient details, and most (95.5%) MAs did not report on conflicts of interest. However, compared with the before publication of the MOOSE Checklist, the quality of reporting improved significantly for 20 subitems after publication of the MOOSE Checklist, and 7 items of the included MAs demonstrated significant improvement after publication of the AMSTAR Checklist (p<0.05). CONCLUSIONS: Although many MAs of observational studies have been published in Chinese journals, the reporting quality is questionable. Thus, there is an urgent need to increase the use of reporting guidelines and methodological tools in China; we recommend that Chinese journals adopt the MOOSE and AMSTAR criteria.

Analysis of quality of clinical practice guidelines for otorhinolaryngology in China.

OBJECTIVE: To evaluate the quality of clinical practice guidelines (CPGs) for otorhinolaryngology in China. MATERIALS AND METHODS: A systematic search of relevant literature databases (CBM, WANFANG, VIP, CNKI, China Guideline Clearinghouse) published between 1978 and March 2012 was undertaken to identify and select CPGs related to otorhinolaryngology. Four independent reviewers assessed the eligible guidelines using the Appraisal of Guidelines for Research and Evaluation (AGREE II) instrument. Their degree of agreement was evaluated using the intraclass correlation coefficient (ICC). RESULT: From 170 citations, 21 relevant guidelines were included. The overall agreement among reviewers was moderate (ICC = 0.87; 95% confidence interval [CI], 0.78-0.91). The scores for each of the AGREE domains were the following: "scope and purpose" (mean ± standard error [SE] = 45.4±4.4; ICC = 0.92), "stakeholder involvement" (mean ± SE = 30.4±3.1; ICC = 0.81), "rigor of development" (mean ± SE = 20.9±2.8; ICC = 0.87), "clarity of presentation" (mean ± SE = 48.8±3.7; ICC = 0.80), "applicability" (mean ± SE = 12.6±1.7; ICC = 0.72), and "editorial independence" (mean ± SE = 6.2±0.8; ICC = 0.76). Three guidelines (14%) mentioned updates, and the average update frequency was 7 years. None used the GRADE system. CONCLUSION: The quality of otorhinolaryngology guidelines in China is low. Greater efforts are needed to provide high-quality guidelines that serve as a useful and reliable tool for clinical decision-making in this field.

Common molecular etiology of patients with nonsyndromic hearing loss in Tibetan, Tu nationality, and Mongolian patients in the northwest of China.

CONCLUSION: In the northwest of China, the prevalence of mutations of the three prominent deafness-related genes, GJB2, SLC26A4, and mitochondrial DNA (mtDNA) 12S rRNA, among Tibetan, Tu nationality, and Mongolian subjects is high, at 19%, 28.57%, and 21.05%, respectively. Molecular genetic screening for these mutations and genetic counseling are effective methods to prevent the occurrence of hereditary hearing loss. OBJECTIVE: To analyze the prevalence of the three common deafness genes GJB2, mtDNA, and SLC26A4 gene mutations in Tibetan, Tu nationality, and Mongolian patients with nonsyndromic hearing impairment in the Northwest region of China. METHODS: Genomic DNA was extracted from a total of 189 Tibetan, Tu nationality, and Mongolian probands from the northwest of China. PCR and direct sequencing were used to analyze the coding region of GJB2, mtDNA, and SLC26A4 genes. RESULTS: The mutant allele rate of GJB2 gene was 6.2% in Tibetan and 11.22% in Tu nationality patients, c.235delC was the most prevalent mutation, accounting for 75% of the mutant GJB2 alleles. Mutant allele frequency of SLC26A4 in Tibetan, Tu nationality, and Mongolian subjects was 4.54%, 6.12%, and 15.79% respectively; p.IVS7-2A>G was the most common form. Mongolian cases were significantly higher than Tibetan cases (χ² = 7.281, p = 0.007 and p < 0.05). mtDNA A1555G mutation was detected in six Tibetan, five Tu nationality, and one Mongolian subject; one Tibetan patient carried the C1494T mutation.