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| 1 | Correlation between BRAF^(V600E) mutation and clinicopathological features in pediatric papillary thyroid carcinoma显示文摘In adults, the presence of the BRAF^(V600E) mutation in papillary thyroid cancer(PTC) has been demonstrated to be strongly associated with aggressive cancer-cell characteristics and poor patient prognosis. In contrast, the frequency of this mutation in pediatric PTC has undergone limited study, and the few available estimates range from 0 to 63%. Furthermore, the role of the BRAF^(V600E) mutation in pediatric PTC is controversial; thus, the present study aimed to investigate the prevalence and role of the BRAF^(V600E) mutation in48 pediatric patients with PTC, aged 3–13 years. Of these patients, 41 were diagnosed with classic PTC, five were found to have a follicular variant of PTC, and two to exhibit a diffuse sclerosing PTC variant. The BRAF^(V600E) mutation was identified to be present in 35.4% of the 48 analyzed patients, and in 41.5% of the patients diagnosed with classical PTC. Furthermore, the presence of the BRAF^(V600E) mutation was found to be associated with a patient age at diagnosis of less than ten years(P=0.011), the performance of a thyroidectomy(P=0.03), exhibited tumor multifocality(P=0.02) and/or extra-thyroidal invasion(P=0.003), and both a low MACIS(Metastases, Age, Completeness of resection, Invasion, Size)(P=0.036) and AMES(Age, Metastasis, Extent of tumor,Size)(P=0.001)score. Together, these data suggest that the presence of the BRAF^(V600E) mutation may be negatively correlated with partial aggressive clinicopathological features of pediatric PTC. | Jiangqiao Geng Huanmin Wang Yuanhu Liu Jun Tai Yaqiong Jin Jie Zhang Lejian He Libing Fu Hong Qin Yingluan Song Jinzhu Su Aiying Zhang Xin Wen Yongli Guo Xin Ni | 2017 | Science China(Life Sciences)2017，60，7： | 9 |
| 2 | Correlation between TERT C228T and clinic-pathological features in pediatric papillary thyroid carcinoma显示文摘The aims of the present study were to reveal the prevalence of the TERT C228 T mutation in pediatric papillary thyroid carcinoma(PPTC) and to further investigate the role of the TERT C228 T mutation in PPTC. We also tested another TERT mutation, TERT C250 T, although this was not detected in PPTC patients. In this study, 48 patients with PPTC(41 with classic PPTC) were enrolled. DNA was extracted from PPTC tissues and TERT C228 T mutation analysis was performed. Chi-squared analysis,Fisher’s exact test, and a t-test were applied to test the significance of differences. The TERT C228 T mutation presented in 13(27.1%) of the 48 PPTC patients and 10(24.4%) of the 41 classical PPTC patients. There were significant differences between PPTC patients with the TERT C228 T mutation and those without in terms of modified radical neck dissection, multifocality,capsular invasion, extrathyroidal invasion, and American Joint Committee on Cancer(AJCC) tumor stage(P<0.05). In classical PPTC, there were additional significant differences in other clinic-pathological features, such as AJCC nodal stage(P=0.009)and American Thyroid Association(ATA) PPTC stage(P=0.021) between patients with and without the TERT C228 T mutation.These findings indicate that the TERT C228 T mutation is significantly correlated with certain aggressive clinic-pathological features of PPTC. | Jiangqiao Geng Yuanhu Liu Yongli Guo Huanmin Wang Jun Tai Yaqiong Jin Jie Zhang Yongbo Yu Shengcai Wang Yingluan Song Xin Ni | 2019 | Science China(Life Sciences)2019，62，12： | 3 |
| 3 | Effects of myogenin on expression of late muscle genes through MyoD-dependent ehromatin remodeling ability of myogenin显示文摘 | DU Chao JIN Yaqiong QI Junjuan | 2012 | Molecules and Ceils2012，34，2： | 1 |
| 4 | Antinociceptive effect of matrine on vincristine-induced neuropathic pain model in mice显示文摘 | Dun Linglu Li Yuxiang Xu Yaqiong Zhou Ru Ma Lin Jin Shaoju Du Juan Sun Tao Yu Jianqiang | 2014 | Neurological Sciences2014，，： | 1 |
| 5 | Charge disproportionation induced exchange bias in La_(0.5)Ca_(0.5)FeO_(3-δ)显示文摘We observed an exchange bias effect in La0.5Ca0.5FeO3 perovskite compound.The exchange bias is associated with the charge disproportionation transition from Fe4+ions to Fe3+and Fe5+ions below 175 K.The competition between the ferromagnetic interaction of Fe3+and Fe5+ions and the antiferromagnetic one of Fe3+and Fe3+ions results in a unidirectional anisotropy in the cluster-glass system.An antiferromagnetically interfacial exchange coupling constant Ji1.95 meV at the cluster-glass region was yielded by fitting the cooling field-dependence of the exchange bias field. | LIANG YaQiong ZHANG XiangQun JIN JinLing ZHAN QingFeng CHENG ZhaoHua | 2013 | Science China(Physics,Mechanics & Astronomy)2013，56，11： | 1 |
| 6 | Antinociceptive effects of oxymatrine from Sophora flavescens , through regulation of NR2B-containing NMDA receptor-ERK/CREB signaling in a mice model of neuropathic pain显示文摘 | Wang Haiyan Li Yuxiang Dun Linglu Xu Yaqiong Jin Shaojv Du Juan Ma Lin Li Juan Zhou Ru He Xiaoliang Sun Tao Yu Jianqiang | 2013 | Phytomedicine2013，，： | 1 |
| 7 | Electrochemical tolazoline sensor based on gold nanoparticles and imprinted poly- o -aminothiophenol film显示文摘 | Jin Zhang Yaqiong Wang Ruihong Lv Lan Xu | 2010 | Electrochimica Acta2010，，12： | 1 |
| 8 | Sequencing XMET genes to promote genotype-guided risk assessment and precision medicine显示文摘High-throughput next generation sequencing (NGS) is a shotgun approach applied in a parallel fashion by which the genome is fragmented and sequenced through small pieces and then analyzed either by aligning to a known reference genome or by de novo assembly without reference genome.This technology has led researchers to conduct an explosion of sequencing related projects in multidisciplinary fields of science.However,due to the limitations of sequencing-based chemistry,length of sequencing reads and the complexity of genes,it is difficult to determine the sequences of some portions of the human genome,leaving gaps in genomic data that frustrate further analysis.Particularly,some complex genes are difficult to be accurately sequenced or mapped because they contain high GC-content and/or low complexity regions,and complicated pseudogenes,such as the genes encoding xenobiotic metabolizing enzymes and transporters (XMETs).The genetic variants in XMET genes are critical to predicate interindividual variability in drug efficacy,drug safety and susceptibility to environmental toxicity.We summarized and discussed challenges,wet-lab methods,and bioinformatics algorithms in sequencing 'complex' XMET genes,which may provide insightful information in the application of NGS technology for implementation in toxicogenomics and pharmacogenomics. | Yaqiong Jin Geng Chen Wenming Xiao Huixiao Hong Joshua Xu Yongli Guo Wenzhong Xiao Tieliu Shi Leming Shi Weida Tong Baitang Ning | 2019 | Science China(Life Sciences)2019，62，7： | 1 |
| 9 | 3D-printed engineered bacteria-laden gelatin/sodium alginate composite hydrogels for biological detection of ionizing radiation显示文摘Nuclear safety is a global growing concern,where ionizing radiation(IR)is a major injury factor resulting in serious damage to organisms.The detection of IR is usually conducted with physical dosimeters;however,biological IR detection methods are deficient.Here,a living composite hydrogel consisting of engineered bacteria and gelatin/sodium alginate was 3D-printed for the biological detection of IR.Three strains of PrecA::egfp gene circuit-containing engineered Escherichia coli were constructed with IR-dependent fluorescence,and the DH5αstrain was finally selected due to its highest radiation response and fluorescence.Engineered bacteria were loaded in a series of gelatin/sodium alginate matrix hydrogels with different rheology,3D printability and bacterial applicability.A high-gelatin-content hydrogel containing 10%gelatin/1.25%sodium alginatewas optimal.The optimal living composite hydrogelwas 3D-printedwith the special bioink,which reported significant green fluorescence underγ-ray radiation.The living composite hydrogel provides a biological strategy for the detection of environmental ionizing radiation. | Ziyuan Chen Jintao Shen Meng Wei Wenrui Yan Qiucheng Yan Zhangyu Li Yaqiong Chen Feng Zhang Lina Du Bochuan Yuan Yiguang Jin | 2023 | Bio-Design and Manufacturing2023，6，4： | 0 |
| 10 | MYC-associated protein X binding with the variant rs72780850 in RNA helicase DEAD box 1 for susceptibility to neuroblastoma显示文摘Neuroblastoma(NB)is one of the most common malignant tumors in children,with variable clinical behaviors and a 15%death rate of all malignancies in childhood.However,genetic susceptibility to sporadic NB in Han Chinese patients is largely unknown.To identify genetic risk factors for NB,we performed an association study on 357 NB patients and 738 control subjects among Han Chinese children.We focused on DEAD box 1(DDX1),a putative RNA helicase,which is involved in NB carcinogenesis.The potential association of DDX1 polymorphisms with NB has not been discovered.Our results demonstrate that rs72780850(NM_004939.2:c.-1555 T>C)located in the DDX1 promoter region is significantly associated with higher expression of DDX1 transcript and increased NB risk(odds ratio=1.64,95%confidence interval=1.03%–2.60%,P=0.004),especially in aggressive NB compared with ganglioneuroma and ganglioneuroblastoma in a dominant model(TC+CC vs.TT).Furthermore,the MYC-associated protein X(MAX)transcription factor showed stronger binding affinity to the DDX1 rs72780850 CC allele compared with the TT allele,explaining the molecular mechanism of the increased NB risk caused by the rs72780850 polymorphism.Our results highlight the involvement of regulatory genetic variants of DDX1 in NB. | Yaqiong Jin Jin Shi Huanmin Wang Jie Lu Chenghao Chen Yongbo Yu Yaru Wang Yeran Yang Dong Ren Qi Zeng Xin Ni Yongli Guo | 2021 | Science China(Life Sciences)2021，64，6： | 0 |
| 11 | Identification of potential pathogenic mutations in Chinese children with first branchial cleft anomalies detected by whole-exome sequencing显示文摘Importance:First branchial cleft anomalies(FBCAs)are rare congenital malformations,accounting for<8%of all branchial cleft anomalies.However,little is currently known about the cause of FBCAs at the molecular level.Objective:To identify genomic alterations related to the genetic etiology of FBCAs in Chinese children.Methods:We performed whole-exome sequencing of samples from 10 pediatric patients with FBCAs.Data analysis was carried out using the Burrow-Wheeler Alignment software package,and the dbSNP database for comparisons.Rare variants were further validated by Sanger sequencing.Insertion/deletions(indels)were examined using the Genome Analysis Toolkit.Results:We identified 14 non-synonymous mutations in seven potential FBCA-susceptibility genes(TRAPPC12,NRP2,NPNT,SH3RF2,RHPN1,TENM4,and ARMCX4).We also detected 133 shared small indels in 125 genes.Gene Ontology analysis indicated that most of the identified genes played critical roles in development and differentiation pathways involved in regulating organ development.Interpretation:We characterized the mutational landscape in pathways involved in development and differentiation in Chinese children with FBCA.The results identified potential pathogenic genes and mutations related to FBCA,and provide molecular-level support for the branchial theory of FBCA pathogenesis. | Yeran Yang Wei Liu Yaqiong Jin Min Chen Jie Lu Yongbo Yu Huimin Ren Shujing Han Ping Chu Yongli Guo Jie Zhang Xin Ni | 2021 | Pediatric Investigation2021，5，3： | 0 |
| 12 | Detection of FOXO1 break-apart status by fluorescence in situ hybridization in atypical alveolar rhabdomyosarcoma显示文摘The morphologies of alveolar rhabdomyosarcoma(ARMS) are various. Some cases entirely lack an alveolar pattern and instead display a histological pattern that overlaps with embryonal rhabdomyosarcoma(ERMS). The method of pathological diagnosis of ARMS and ERMS has been updated in the 4th edition of the World Health Organization's guidelines for classification of skeletal muscle tumors. Under the new guidelines, there is still no molecular test to distinguish between these two subtypes of rhabdomyosarcoma(RMS). In the present study, we applied fluorescent in situ hybridization(FISH) and found that the Forkhead box O1(FOXO1) gene broke apart, amplified, and displayed an aneuploid signal that was related to the RMS pathological subtype.Aside from the fact that FOXO1 break-apart and its amplification were correlated with atypical ARMS, aneuploidies were usually found in atypical ERMS. In conclusion, our results detail a potential biomarker to improve the accuracy of pathological diagnosis by discriminating between atypical ARMS and atypical ERMS. | Libing Fu Yaqiong Jin Chao Jia Jie Zhang Jun Tai Hongbin Li Feng Chen Jin Shi Yongli Guo Xin Ni Lejian He | 2017 | Science China(Life Sciences)2017，60，7： | 0 |
| 13 | Ch25h and 25-HC prevent liver steatosis through regulation of cholesterol metabolism and inflammation显示文摘Non-alcoholic fatty liver disease(NAFLD)is currently the most prevalent metabolic disorder all over the world,and lipid metabolic disorders and inflammation are closely associated and contribute to the pathogenesis of NAFLD.Cholesterol 25-hydroxylase(Ch25h)and its product,25-hydroxycholesterol(25-HC),play important roles in cholesterol homeostasis and inflammation,but whether Ch25h and 25-HC are involved in NAFLD remains uncertain.In this study,we use Ch25h knockout mice,hepatic cells and liver biopsies to explore the role of Ch25h and 25-HC in lipid metabolism and accumulation in liver,determine the molecular mechanism of lipid accumulation and inflammation influenced by Ch25h and 25-HC,and assess the regulatory effects of Ch25h and 25-HC on human NAFLD.Our results indicate that mice lacking Ch25h have normal cholesterol homeostasis with normal diet,but under the condition of high fat diet(HFD),the mice show higher total cholesterol and triglyceride in serum,and prone to hepatic steatosis.Ch25h deficiency reduces the cholesterol efflux regulated by liver X receptorα(LXRα),increases the synthesis of cholesterol mediated by sterol-regulatory element binding protein 2(SREBP-2),and increases the activation of NLRP3 inflammasome,therefore promotes hepatic steatosis.Collectively,our data suggest that Ch25h and 25-HC play important roles in lipid metabolism and inflammation,thereby exerting anti-NAFLD functions. | Yaqiong Wang Jin Zhang Jie Chen Dan Wang Yang Yu Pei Qiu Qiqi Wang Wenbao Zhao Zhao Li Ting Lei | 2022 | Acta Biochimica et Biophysica Sinica2022，54，4： | 0 |
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