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Coffin-Siris syndrome in two chinese patients with novel pathogenic variants of ARID1A and SMARCA4
Liu Mingjie,Wan Linlin,Wang Chunrong,Yuan Hongyu,Peng Yun,Wan Na,Tang Zhichao,Yuan Xinrong,Chen Daji,Long Zhe,Shi Yuting,Qiu Rong,Tang Beisha,Tang Beisha,Chen Zhao 한국유전학회 2022 Genes & Genomics Vol.44 No.9
Background: Coffin-Siris syndrome (CSS) is a rare congenital syndrome characterized by developmental delay, intellectual disability, microcephaly, coarse face and hypoplastic nail of the fifth digits. Heterozygous variants of different BAF complex-related genes were reported to cause CSS, including ARID1A and SMARCA4. So far, no CSS patients with ARID1A and SMARCA4 variants have been reported in China. Objective: The aim of the current study was to identify the causes of two Chinese patients with congenital growth deficiency and intellectual disability. Methods: Genomic DNA was extracted from the peripheral venous blood of patients and their family members. Genetic analysis included whole-exome and Sanger sequencing. Pathogenicity assessments of variants were performed according to the guideline of the American College of Medical Genetics and Genomics. The phenotypic characteristics of all CSS subtypes were summarized through literature review. Results: We identified two Chinese CSS patients carrying novel variants of ARID1A and SMARCA4 respectively. The cases presented most core symptoms of CSS except for the digits involvement. Additionally, we performed a review of the phenotypic characteristics in CSS, highlighting phenotypic varieties and related potential causes. Conclusions: We reported the first Chinese CSS2 and CSS4 patients with novel variants of ARID1A and SMARCA4. Our study expanded the genetic and phenotypic spectrum of CSS, providing a comprehensive overview of genotype-phenotype correlations of CSS.
Hongyu Liu,Yuting Tang,Xiaoqian Ma,Wenchang Yue 한국공업화학회 2023 Journal of Industrial and Engineering Chemistry Vol.123 No.-
With the depletion of traditional fossil fuels, biomass has evolved as a new environmentally friendly andsustainable alternative energy source. Ni/CaO catalysts are promising for CO2 capture and biomass catalyticuse. In this study, we examined four different synthesis modes for Ni/CaO catalysts: impregnationmethod, sol–gel method (citric acid complexation), sol–gel method with propionic acid modification andsedimentation method, and used the catalysts in the pyrolysis of corncob to produce hydrogen-rich gas at600 C. According to the results of the fixed-bed experiments, adding the propionic acid modification tothe citric acid complexation boosted hydrogen generation by 24.93 vol.%. The global behavior of the catalystssynthesized by the different methods follows the order sol-Ni1/Ca7-P > sol-Ni1/Ca7 > sed-Ni1/Ca7imp-Ni1/Ca7-A. At a catalyst/biomass ratio of 2:1, the maximum H2 concentration of 84.45 ± 1.02vol.% and H2 production of 26.84 ± 1.26 mmol/gbiomass were attained, as well as CO2 concentrations of just2.08 ± 0.03 vol.%. The H2 production was about 20 times higher than without the addition of the catalyst. Optimizing the synthesis modes and catalyst/biomass ratio produced high-quality hydrogen-rich gaswith a high H2 conversion of 88.95 ± 2.20 % and the energy efficiency of 52.73 %.
( Kai Yang ),( Yulong Tang ),( Yanyun Ma ),( Qingmei Liu ),( Yan Huang ),( Yuting Zhang ),( Xiangguang Shi ),( Li Zhang ),( Yue Zhang ),( Ji’an Wang ),( Yifei Zhu ),( Wei Liu ),( Yimei Tan ),( Jinran 대한피부과학회 2021 Annals of Dermatology Vol.33 No.6
Background: Androgenetic alopecia (AGA) leads to thinning of scalp hair and affects 60%~70% of the adult population worldwide. Developing more effective treatments and studying its mechanism are of great significance. Previous clinical studies have revealed that hair growth is stimulated by 650-nm red light. Objective: This study aimed to explore the effect and mechanism of 650-nm red light on the treatment of AGA by using ex vivo hair follicle culture. Methods: Human hair follicles were obtained from hair transplant patients with AGA. Hair follicles were cultured in Williams E medium and treated with or without 650-nm red light. Real-time RT-PCR and immunofluorescence staining were used to detect the expression level of genes and proteins in hair follicles, respectively. RNA-sequencing analysis was carried out to reveal the distinct gene signatures upon 650 nm treatment. Results: Low-level 650 nm red light promoted the proliferation of human hair follicles in the experimental cultured-tissue model. Consistently, 650 nm red light significantly delayed the transition of hair cycle from anagen to catagen in vitro. RNA-seq analysis and gene clustering for the differentially expressed genes suggests that leukocyte transendothelial migration, metabolism, adherens junction and other biological process maybe involved in stimulation of hair follicles by 650-nm red light treatment. Conclusion: The effect of 650-nm red light on ex vivo hair follicles and the transcriptome set which implicates the role of red light in promoting hair growth and reversing of miniaturization process of AGA were identified.
A biothiols and H 2 O 2 responsive fluorescence probe for selective cancer imaging
Yin Nan,Qin Guixin,Wang Yuting,Tang Jiali,Yao Xin,Xu Qingling 대한화학회 2024 Bulletin of the Korean Chemical Society Vol.45 No.3
Identification of cancer from normal tissues is important for early diagnosis of cancer. Combined detection of multiple tumor markers is important for accurate diagnosis. It is urgent to develop fluorescent probes that are responsive to multiple cancer characterizations for selective cancer imaging. Herein, we designed a novel near‐infrared (NIR) fluorescent probe ( IRAPA ) using a hemi‐cyanine skeleton as fluorophore and 3‐acrylamidopropanoic ester as recognizing unit that is responsive to both oxidative and reductive molecules. IRAPA has faint fluorescence emission as the intramolecular charge transfer (ICT) process is blocked. H 2 O 2 , glutathione (GSH) and cysteine (Cys) can individually induce the hydrolysis of ester bond and give fluorescent NIR IROH . IRAPA shows low cytotoxicity and produces strong fluorescence specifically in cancer cells/tissues. While the normal cells/tissues showed very weak fluorescence. Moreover, IRAPA shows higher differences between cancer and normal cells compared to probes that only response to biothiols or ROS. Identification of cancer from normal tissues is important for early diagnosis of cancer. Combined detection of multiple tumor markers is important for accurate diagnosis. It is urgent to develop fluorescent probes that are responsive to multiple cancer characterizations for selective cancer imaging. Herein, we designed a novel near-infrared (NIR) fluorescent probe (IRAPA) using a hemicyanine skeleton as fluorophore and 3-acrylamidopropanoic ester as recognizing unit that is responsive to both oxidative and reductive molecules. IRAPA has faint fluorescence emission as the intramolecular charge transfer (ICT) process is blocked. H2O2, glutathione (GSH) and cysteine (Cys) can individually induce the hydrolysis of ester bond and give fluorescent NIR IROH. IRAPA shows low cytotoxicity and produces strong fluorescence specifically in cancer cells/tissues. While the normal cells/tissues showed very weak fluorescence. Moreover, IRAPA shows higher differences between cancer and normal cells compared to probes that only response to biothiols or ROS.
Kun Chen,Miaomiao Han,Mengyao Tang,Yadong Xie,Yuting Lai,Xianting Hu,Jia Zhang,Jun Yang,Huabin Li 대한천식알레르기학회 2018 Allergy, Asthma & Immunology Research Vol.10 No.6
Purpose: Hrd1 has recently emerged as a critical regulator of B-cells in autoimmune diseases. However, its role in the pathogenesis of chronic rhinosinusitis with nasal polyps (CRSwNP) remains largely unexplored. This study aimed to examine Hrd1 expression and B-cell accumulation and their possible roles in CRSwNP. Methods: Quantitative real-time polymerase chain reaction, immunohistochemistry, enzyme-linked immunosorbent assay and Western blotting were used to assess gene and protein expression in nasal tissue extracts. Cells isolated from nasal tissues and peripheral blood mononuclear cells were characterized by flow cytometry. Local antibody production was measured in tissue extracts with a Bio-Plex assay. Additionally, changes in Hrd1 expression in response to specific inflammatory stimuli were measured in cultured dispersed polyp cells. Results: Nasal polyps (NPs) from patients with eosinophilic CRSwNP (ECRS) had increased levels of Hrd1, B-cells and plasma cells compared with NPs from patients with non-eosinophilic CRSwNP (non-ECRS) or other control subjects (P < 0.05). The average Hrd1 levels in B-cells in NPs from ECRS patients were significantly higher than those from non-ECRS patients and control subjects (P < 0.05). NPs also contained significantly increased levels of several antibody isotypes compared with normal controls (P < 0.05). Interestingly, Hrd1 expression in cultured polyp cells from ECRS patients, but not non-ECRS patients, was significantly increased by interleukin-1β, lipopolysaccharide and Poly(I:C) stimulation, and inhibited by dexamethasone treatment (P < 0.05). Conclusions: Differential Hrd1 expression and B-cell accumulation between the ECRS and non-ECRS subsets suggests that they can exhibit distinct pathogenic mechanisms and play important roles in NP.
Yang Jiashu,Zhang Ming,Yang Dawei,Ma Yunfei,Tang Yuting,Xing Mengying,Li Lingyun,Chen Li,Jin Yucui,Ma Changyan 생화학분자생물학회 2021 Experimental and molecular medicine Vol.53 No.-
Long noncoding RNAs (lncRNAs) have emerged as important regulators of osteoarthritis (OA), but the biological roles and clinical significance of most lncRNAs in OA are not fully understood. Microarray analysis was performed to identify differentially expressed lncRNAs, mRNAs, and miRNAs between normal and osteoarthritic cartilage. We found that AC008440.5 (abbreviated AC008), as well as AQP1 and ANKH, were highly expressed in osteoarthritic cartilage, whereas miR-328-3p was expressed at a low level in osteoarthritic cartilage. Functional assays showed that ectopic expression of AC008, AQP1, and ANKH significantly decreased chondrocyte viability and promoted chondrocyte apoptosis and extracellular matrix (ECM) degradation, whereas knockdown of AC008, AQP1, and ANKH resulted in the opposite effects. Moreover, miR-328-3p overexpression increased chondrocyte viability and attenuated chondrocyte apoptosis and ECM degradation, whereas inhibition of miR-328-3p resulted in the opposite effects. Bioinformatics analysis, RNA immunoprecipitation (RIP), and luciferase assays revealed that AC008 functioned as a competing endogenous RNA (ceRNA) to regulate miR-328-3p, which specifically targeted the AQP1 and ANKH genes. In addition, miR-328-3p significantly ameliorated MIA-induced OA, whereas AC008 accelerated OA progression in vivo. Furthermore, fat mass and obesity-associated (FTO)-mediated N6-methyladenosine demethylation downregulated AC008 transcription, while lower FTO expression led to upregulation of AC008 transcription in OA. In conclusion, our data reveal that AC008 plays a critical role in OA pathogenesis via the miR-328-3p‒AQP1/ANKH pathway, suggesting that AC008 may be a potential therapeutic target for OA.