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| 1 | Enhanced efficiency of generating induced pluripotent stem (iPS) cells from human somatic cells by a combination of six transcription factors显示文摘 | Jing Liao Zhao Wu Ying Wang Lu Cheng Chun Cui Yuan Gao Taotao Chen Lingjun Rao Siye Chen Nannan Jia Huiming Dai Shunmei Xin Jiuhong Kang Gang Pei Lei Xiao | 2008 | Cell Research2008，18，5： | 61 |
| 2 | Cold-chain food contamination as the possible origin of COVID-19 resurgence in Beijing显示文摘COVID-19,caused by SARS-CoV-2[1,2],has been contained in China through stringent non-pharmaceutical interventions.Border control and quarantine have effectively prevented the virus from being spread by infected travellers,but the risk of resurgence caused by other routes of introduction and transmission remains unclear,and current strategies to prevent resurgence could be flawed.Since July,SARS-CoV-2 RNA contaminations in frozen food imported from countries with ongoing epidemics have been reported in nine provinces in China[3,4].However,there is no robust evidence of COVID-19 outbreaks initiated by environmentto-human transmission.Here we add to evidence of such transmission by investigating the recent COVID-19 resurgence in Beijing. | Xinghuo Pang Lili Ren Shuangsheng Wu Wentai Ma Jian Yang Lin Di Jie Li Yan Xiao Lu Kang Shichang Du Jing Du Jing Wang Gang Li Shuguang Zhai Lijuan Chen Wenxiong Zhou Shengjie Lai Lei Gao Yang Pan Quanyi Wang Mingkun Li Jianbin Wang Yanyi Huang Jianwei Wang COVID-19 Field Response Group COVID-19 Laboratory Testing Group | 2020 | National Science Review2020，7，12： | 51 |
| 3 | Knockdown of CD146 reduces the migration and proliferation of human endothelial cells显示文摘我们的以前的学习证明了那个 CD146 分子是脉管的内皮细胞层上的一个简历标记,它涉及 angiogenesis 和肿瘤生长。然而机制在后面不是清楚的。这里,我们第一次用 CD146 siRNA 开发了一个新奇 CD146 封锁系统在 endothelial 房间上学习它的功能。我们的数据证明 CD146 siRNA 明确地在 mRNA 和蛋白质层次上堵住了 CD146 的表达式,导致 HUVEC 增长,粘附和移植的重要抑制。这些结果证明 CD146 在脉管的 endothelial 房间活动和 angiogenesis 起一个关键作用,并且 CD146 siRNA 能为 anti-angiogenesis 治疗被用作一个新禁止者。 | Yanyong Kang Fengcai Wang Jing Feng Dongling Yang Xu Yang Xiyun Yan | 2006 | Cell Research2006，16，3： | 33 |
| 4 | Inhibition of RhoA/Rho-kinase pathway suppresses the expression of extracellular matrix induced by CTGF or TGF-β in ARPE-19显示文摘AIM:To investigate the role of Rho-associated protein kinase (ROCK) inhibitor, Y27632, in mediating the production of extracellular matrix (ECM) components including fibronectin, matrix metallo-proteinase-2 (MMP-2) and type I collagen as induced by connective tissue growth factor(CTGF) or transforming growth factor-β (TGF-β) in a human retinal pigment epithelial cell line, ARPE-19. METHODS:The effect of Y27632 on the CTGF or TGF-β induced phenotype in ARPE-19 cells was measured with immunocytochemistry as the change in F-actin. ARPE-19 cells were treated with CTGF (1, 10, 100ng/mL)and TGF-β (10ng/mL) in serum free media, and analyzed for fibronectin, laminin, and MMP-2 and type I collagen by RT-qPCR and immunocytochemistry. Cells were also pretreated with an ROCK inhibitor, Y27632, to analyze the signaling contributing to ECM production. ·RESULTS:Treatment of ARPE-19 cells in culture with TGF-β or CTGF induced an ECM change from a cobblestone morphology to a more elongated swirl pattern indicating a mesenchymal phenotype. RT-qPCR analysis and different gene expression analysis demonstrated an upregulation in expression of genes associated with cytoskeletal structure and motility. CTGFor TGF-β significantly increased expression of fibronectin mRNA (P =0.006, P =0.003 respectively), laminin mRNA (P =0.006, P =0.005), MMP-2 mRNA (P =0.006, P =0.001), COL1A1 mRNA (P =0.001, P =0.001), COL1A2 mRNA (P = 0.001, P =0.001). Preincubation of ARPE-19 with Y27632 (10mmol/L) significantly prevented CTGF or TGF-β induced fibronectin (P=0.005, P=0.003 respectively), MMP-2 (P = 0.003, P =0.002), COL1A1 (P =0.006, P =0.003), and COL1A2 (P =0.006, P =0.004) gene expression, but not laminin (P =0.375, P =0.516). CONCLUSION:Our study demonstrated that both TGF-β and CTGF upregulate the expression of ECM components including fibronectin, laminin, MMP-2 and type I collagen by activating the RhoA/ROCK signaling pathway. During this process, ARPE-19 cells were shown to change from an epithelial to a mesenchymal phenotype in vitro. Y27632, a ROCK inhibitor, inhibited the transcription of fibronectin, MMP-2 and type I collagen, but not laminin. The data from our work suggest a role for CTGF as a profibrotic mediator. Inhibiting the RhoA/ROCK pathway represents a potential target to prevent the fibrosis of retinal pigment epithelial (RPE) cells. This might lead to a novel therapeutic approach to preventing the onset of early proliferative vitreoretinopathy(PVR). | Jing Zhu Duy Nguyen Hong Ouyang Xiao-Hui Zhang Xiao-Ming Chen Kang Zhang | 2013 | International Journal of Ophthalmology(English edition)2013，6，1： | 21 |
| 5 | Elevated nocturnal and morning blood pressure in patients with obstructive sleep apnea syndrome显示文摘 | HE Quan-ying FENG Jing ZHANG Xilong LIANG Zong-an HUANG Shao-guang KANG Jian WANG Guang-fa ZHANG Li-qiang MA Li-jun WANG Bei LIN Qi-chang ZHANG Jin-nong LIU Hui-guo LUO Yuan-ming LIU Jian-hong WANG Shi XIAO Gao-hui LU Gan ZHANG Jin FENG Xue-wei CHEN Bao-yuan | 2012 | Chinese Medical Journal2012，，10： | 15 |
| 6 | Endoscopic submucosal dissection for early gastric cancer with undifferentiated-type histology:A meta-analysis显示文摘AIM: To evaluate the efficacy and safety of endoscopicsubmucosal dissection(ESD) for early gastric cancer(EGC) with undifferentiated-type histology.METHODS: A systematic literature review was conducted using the core databases. Complete resection,curative resection, en bloc resection, recurrence and adverse event rate were extracted and analyzed. A random effect model was applied. The methodological quality of the enrolled studies was assessed using the Newcastle-Ottawa Scale. Publication bias was evaluated using a funnel plot, the trim and fill method, Egger's test,and a rank correlation test.RESULTS: Fourteen retrospective studies between2009 and 2014 were identified(972 EGC lesions with undifferentiated-type histology). The total en bloc and complete resection rates were estimated as92.1%(95%CI: 87.4%-95.2%) and 77.5%(95%CI:69.3%-84%), respectively. The total curative resection rate was 61.4%(95%CI: 44.5%-75.9%). The overall recurrence rate was 7.6%(95%CI: 3.4%-16%).Limited to histologically diagnosed expanded-criteria lesions, the en bloc and complete resection rates were91.2% and 85.6%, respectively. The curative resection rate was 79.8%.CONCLUSION: In this analysis, ESD is a technically feasible treatment modality for EGC with undifferentiatedtype histology. Long-term studies are needed to confirm these therapeutic outcomes. | Chang Seok Bang Gwang Ho Baik In Soo Shin Jing Bong Kim Ki Tae Suk Jai Hoon Yoon Yeon Soo Kim Dong Joon Kim Woon Geon Shin Kyung Ho Kim Hak Yang Kim Hyun Lim Ho Seok Kang Jong Hyeok Kim Jin Bae Kim Sung Won Jung Sea Hyub Kae Hyun Joo Jang Min Ho Choi | 2015 | World Journal of Gastroenterology2015，21，19： | 14 |
| 7 | Mid-short-term risk assessment of power systems considering impact of external environment显示文摘Ice flashover,lightning flashover and bird damage are the main reasons that cause transmission facility failure.The impact of these environmental factors on the operational risk levels of power systems should be taken into account in power system maintenance scheduling and operation planning.This paper studies the midshort-term risk assessment methodology considering the impact of the external environment.The relationship model between natural disasters and transmission lines is presented.The conditional outage rate model and the sampling technique are then proposed considering the correlated outage of multiple transmission lines when a disaster happens.The framework of the mid-short-term risk assessment model is outlined.A test case of Jiangxi provincial power grid validates the proposed model.The results show that the model can quantify the impact of disasters on the forced outage rate of transmission component and their outage correlation,and thus effectively revealing the mid-short-term risk of power systems.The model can facilitate a more strategic decision-making on maintenance scheduling and operation planning of power systems. | Ning ZHANG Chongqing KANG Jingkun LIU Jianbo XIN Junbiao WAN Jing HU Wenxiao WEI | 2013 | Journal of Modern Power Systems and Clean Energy2013，1，2： | 14 |
| 8 | Changing Proportions of HIV-1 Subtypes and Transmitted Drug Resistance Among Newly Diagnosed HIV/AIDS Individuals—China,2015 and 2018显示文摘Introduction:With the expansion of human immunodeficiency virus(HIV)antiretroviral therapy(ART),HIV drug resistance is becoming more and more serious.This study describes the changing prevalence of HIV-1 subtypes and transmitted drug resistance(TDR)among newly diagnosed individuals in China,2015 and 2018.Methods:A total of 8,980 individuals in 2015 and 2018 from 31 provincial-level administrative divisions(PLADs)were enrolled in this study.Viral RNAs were amplified and sequenced using an in-house polymerase chain reaction(PCR)protocol.The Stanford HIV Drug Resistance Database(HIVdb)was used to predict susceptibility to 12 antiretroviral drugs.Results:The prevalence of TDR was not significantly increased over time.The prevalence of TDR was 3.8%and 4.4%in 2015 and 2018,respectively(P=0.13).The prevalence of CRF55_01B increased from 2.3%in 2015 to 3.9%in 2018(P<0.001).The drug resistance prevalence of nonnucleoside reverse transcriptase inhibitors(NNRTI)increased from 2.4%in 2015 to 3.3%in 2018(P<0.01).The prevalence of E138(P<0.001),H221(P=0.03),and V179(P<0.001)mutations increased from 0.30%,0.09%,and 0.70%in 2015 to 1.10%,0.30%,and 1.70%in 2018,respectively.Conclusions:HIV drug resistance affects the effect of antiretroviral treatment,so the monitoring of HIV TDR should be strengthened to control the transmission of HIV drug resistance. | Jingjing Hao Shan Zheng Mengze Gan Aobo Dong Ruihua Kang Miaomiao Li Shuai Zhao Jing Hu Chang Song Lingjie Liao Yi Feng Yiming Shao Yuhua Ruan Hui Xing | 2021 | China CDC weekly2021，3，53： | 13 |
| 9 | X-ray image characteristics and related measurements in the ankles of 118 adult patients with Kashin-Beck disease显示文摘 | Zeng Yi Zhou Zongke Shen Bin Yang Jing Kang Pengde Zhou Xuan Zou Ling Pei Fuxing | 2014 | Chinese Medical Journal2014，，13： | 13 |
| 10 | Design scheme for fast charging station for electric vehicles with distributed photovoltaic power generation显示文摘The demand for fast charging is increasing owing to the rapid expansion of the market for electric vehicles. In addition, the power generation technology for distributed photovoltaic has matured. This paper presents a design scheme for a fast charging station for electric vehicles equipped with distributed photovoltaic power generation system taking the area with certain conditions in Beijing as an example construction site. The technical indexes and equipment lectotype covering the general framework and subsystems of the charging station are determined by analyzing the charging service demand of fast charging stations. In this study, the layout of the station is developed and the operation benefits of the station is analyzed. The design scheme realizes the design objective of 'rationalization, modularization and intelligentization' of the fast charging station and can be used as reference for the construction of a fast charging network in urban area. | Jing Zhang Chang Liu Ruiming Yuan Taoyong Li Kang Li Bin Li Jianxiang Li Zhenyu Jiang | 2019 | Global Energy Interconnection2019，2，2： | 12 |
| 11 | Meta-analysis comparing total hip arthroplasty with hemiarthroplasty in the treatment of displaced femoral neck fractures in patients over 70 years old显示文摘ObjectiveTotal 新潮的关节造形术(THA ) 和 hemiarthroplasty (哈) 有效方法当前被用来在老病人对待大腿骨的颈骨折,但是二种选择超过 70 岁在病人仍然保持争论。我们的学习的主要目的是决定是否 THA 或哈大腿骨的破裂的优异治疗在是超过 70 年 age.MethodsA 的病人正在包含代替的颈 Medline ( 1970-2011 )的基于计算机的联机搜索, PubMed ( 1977-2011 ),并且控制试用( 2002-2011 )的 Cochrane 中央收款机被进行。有 739 个病人的一个总数的六相关使随机化的控制试用为最后的分析被包括。分析与与 THA 相比发现那的软件 RevMan 5.0 .ResultsWe 被执行,哈需要的更短的平均时间和失去的更少血。当时在长期的后续上, THA 病人显著地展出了更少的疼痛和更好的功能并且多半是更少要求一个修订臀部手术。手术后的感染是同等地普通的在之中哈并且在结果的重要差别建议的 THA patients.ConclusionsThe 那 THA 是为 activeelderly 新潮的破裂个人的一种珍贵治疗选择。然而,更老,损害或使制度化的病人得益于哈。 | HE Jun-hui ZHOU Cheng-pei ZHOU Zong-ke SHEN Bin YANG Jing KANG Peng-de PEI Fu-xing | 2012 | Chinese Journal of Traumatology2012，15，4： | 11 |
| 12 | Augmented reality registration algorithm based on nature feature recognition显示文摘This paper presents an improved key frame based augmented reality registration algorithm for real-time motion tracking in outdoor environment. In such applications, wide-baseline feature matching is a critical problem. In this paper, we apply randomized tree method to match key points extracted from the input image to those key frames as a classification problem. Extended Kalman filter is also utilized for jitter correction. A video see-through mobile augmented reality system is built for the on-site digital reconstruction of Yuanmingyuan Garden. Experimental results demonstrate that this algorithm is real-time, robust and effective for outdoor tracking. | CHEN Jing WANG YongTian GUO JunWei LIU Wei LIN JingDun XUE Kang LIU Yue DING GangYi | 2010 | Science China(Information Sciences)2010，53，8： | 11 |
| 13 | A novel polyaniline/mesoporous carbon nano-composite electrode for asymmetric supercapacitor显示文摘polyaniline/mesoporous 碳(PANI/CMK-3 )nano 合成的一篇小说与用作支持的 mesoporous 碳(CMK-3 ) 被准备。电气化学的不对称的电容器被分别地把合成的 PANI/CMK-3 和 CMK-3 用作积极、否定的电极成功地设计了。结果证明不对称的电容器的分泌物电容能在 5 mA/cm2 的当前的密度和 1.4 V 的房间电压下面到达 87.4 F/g。不对称的电容器的精力密度直到有 206 W/kg 的力量密度的 23.8 Wh/kg。而且,用这 PANI/CMK-3 的 PANI/CMK-3CMK-3 不对称的电容器 nano 合成能快速被激活并且拥有高 chargedischarge 效率。 | Jian Jun Cai Ling Bin Kong Jing Zhang Yong Chun Luo Long Kang | 2010 | Chinese Chemical Letters2010，21，12： | 11 |
| 14 | Generation of a Hutchinson-Gilford progeria syndrome monkey model by base editing显示文摘Many human genetic diseases,including Hutchinson-Gilford progeria syndrome(HGPS),are caused by single point mutations.HGPS is a rare disorder that causes premature aging and is usually caused by a de novo point mutation in the LMNA gene.Base editors(BEs)composed of a cytidine deaminase fused to CRISPR/Cas9 nickase are highly efficient at inducing C to T base conversions in a programmable manner and can be used to generate animal disease models with single amino-acid substitutions.Here,we generated the first HGPS monkey model by delivering a BE mRNA and guide RNA(gRNA)targeting the LMNA gene via microinjection into monkey zygotes.Five out of six newborn monkeys carried the mutation specifically at the target site.HGPS monkeys expressed the toxic form of lamin A,progerin,and recapitulated the typical HGPS phenotypes including growth retardation,bone alterations,and vascular abnormalities.Thus,this monkey model genetically and clinically mimics HGPS in humans,demonstrating that the BE system can efficiently and accurately generate patient-specific disease models in non-human primates. | Fang Wang Weiqi Zhang Qiaoyan Yang Yu Kang Yanling Fan Jingkuan Wei Zunpeng Liu Shaoxing Dai Hao Li Zifan Li Lizhu Xu Chu Chu Jing Qu Chenyang Si Weizhi Ji Guang-Hui Liu Chengzu Long Yuyu Niu | 2020 | Protein & Cell2020，11，11： | 11 |
| 15 | Effects of deficit irrigation with saline water on spring wheat growth and yield in arid Northwest China显示文摘Field experiments were conducted in 2008 and 2009 to study the effects of deficit irrigation with saline water on spring wheat growth and yield in an arid region of Northwest China. Nine treatments included three salinity levels s1, s2 and s3 (0.65, 3.2, and 6.1 dS/m) in combination with three water levels w1, w2 and w3 (375, 300, and 225 mm). In 2008, for most treatments, deficit irrigation showed adverse effects on wheat growth; meanwhile, the effect of saline irrigation was not apparent. In 2009, growth parameters of w1 treatments were not always optimal under saline irrigation. At 3.2 and 6.1 dS/m in 2008, the highest yield was obtained by w1 treatments, however, in 2009, the weight of 1,000 grains and wheat yield both followed the order w2 > w1 > w3. In this study, spring wheat was sensitive to water deficit, especially at the booting to grain-filling stages, but was not significantly affected by saline irrigation and the combination of the two factors. The results demonstrated that 300-mm irrigation water with a salinity of less than 3.2 dS/m is suitable for wheat fields in the study area. | Jing JIANG ZaiLin HUO ShaoYuan FENG ShaoZhong KANG FenXing WANG ChaoBo ZHANG | 2013 | Journal of Arid Land2013，5，2： | 11 |
| 16 | Qingnaoyizhi decoction suppresses the formation of glial fibrillary acidic protein-positive cells in cultured neural stem cells by inhibiting the Janus kinase 2/signal transducer and activator of transcription 3 signaling pathway显示文摘OBJECTIVE: Inactivation of the Janus kinase 2(JAK2)/signal transducer and activator of transcription 3(STAT3) signaling axis plays a crucial role in determining the fate of neural stem cells(NSCs).Qingnaoyizhi decoction(QNYZD) has been used for the treatment of vascular dementia and has shown to improve synaptic remodeling. The aim of this study was to evaluate the effect of cerebrospinal fluid(CSF) containing QNYZD(CSF-QNYZD) on the differentiation of cultured NSCs and the involvement of the JAK2/STAT3 pathway.METHODS: The protein expression levels of glial fibrillary acidic protein(GFAP), tubulin, drosophila mothers against decapentaplegic protein(SMAD-1), STAT3, and phosphorylated-STAT3 were detected by western immunoblot analysis in the groups: control, CSF, JAK/STAT inhibitor(AG490),CSF-QNYZD, and CSF-XDZ(CSF-Xidezhen). The differentiation of NSCs was determined by immunofluorescence staining. The proliferation of NSCs was measured using the Cell Counting Kit-8 proliferation assay.RESULTS: Compared with the control group,CSF-QNYZD and AG490 significantly increased the number and expression of tubulin-positive cells, reduced the number and expression of GFAP-positive cells, and down-regulated the expression of p-STAT3. However, CSF-QNYZD also decreased the expression of SMAD-1 and STAT3.CONCLUSION: Enhanced neuronal differentiation may be associated with the down-regulation of glial differentiation instead of promoting proliferationin treated NSCs. Furthermore, QNYZD may play a direct role in suppressing the formation of GFAP-positive cells and enhancing neuronal differentiation by inhibiting JAK2/STAT3 activation. Overall, these results provide insights into the possible mechanism underlying QNYZD-mediated neurogenesis. | Wu Yanqing Jing Zhiwei Qin Xiude Zhou Zhen Wang Kai Song Wanshan Wang Xueyan Hou Mengmeng Zhang Yulian Kang Liyuan | 2015 | Journal of Traditional Chinese Medicine2015，35，1： | 11 |
| 17 | Study on stabilities and electrochemical behavior of V(V) electrolyte with acid additives for vanadium redox flow battery显示文摘Several acid compounds have been employed as additives of the V(V) electrolyte for vanadium redox flow battery(VRB) to improve its stability and electrochemical activity. Stability of the V(V) electrolyte with and without additives was investigated with ex-situ heating/cooling treatment at a wide temperature range of-5 ?C to 60 ?C. It was observed that methanesulfonic acid, boric acid, hydrochloric acid, trifluoroacetic acid,polyacrylic acid, oxalic acid, methacrylic acid and phosphotungstic acid could improve the stability of the V(V) electrolyte at a certain range of temperature. Their electrochemical behaviors in the V(V) electrolyte were further studied by cyclic voltammetry(CV), steady state polarization and electrochemical impedance spectroscopy(EIS). The results showed that the electrochemical activity, including the reversibility of electrode reaction, the diffusivity of V(V) species, the polarization resistance and the flexibility of charge transfer for the V(V) electrolyte with these additives were all improved compared with the pristine solution. | Gang Wang Jinwei Chen Xueqin Wang Jing Tian Hong Kang Xuejing Zhu Yu Zhang Xiaojiang Liu Ruilin Wang | 2014 | Journal of Energy Chemistry2014，23，1： | 10 |
| 18 | Operational spectrum reconstruction of data from the Fourier transform hyperspectral imager onboard HJ-1A satellite显示文摘The HJ-1A satellite was successfully launched on September 6, 2008. The inclusion of a HyperSpectral Imager (HSI) as one of the payloads of the HJ-1A Satellite is a major milestone in the field of the remote sensing in China. It is also the first Fourier transform imaging spectrometer routinely used to acquire scientific data from a satellite orbiting Earth. This paper briefly introduces the basic imaging theories of the spatially modulated Fourier transform imaging spectrometer, and then discusses the theoretical analysis and algorithms of spectrum reconstruction. Results of the operational spectrum reconstruction for the raw data of the HJ-1A satellite Fourier transform HSI are presented. At present, the algorithms and processing flow have been used successfully in the Ground Data Processing System (GDPS) built by the China Center for Resource Satellite Data and Applications (CRESDA). | ZHAO Xiang LU Jing GONG ADu XIAO ZhengQing KANG Qian LI Qing | 2010 | Chinese Science Bulletin2010，55，17： | 10 |
| 19 | Clinical risk score for invasive fungal diseases in patients with hematological malignancies undergoing chemotherapy:China Assessment of Antifungal Therapy in Hematological Diseases (CAESAR) study显示文摘Invasive fungal disease (IFD) is a major infectious complication in patients with hematological malignancies.In this study,we examined 4889 courses of chemotherapy in patients with hematological diseases to establish a training dataset (n=3500) by simple random sampling to develop a weighted risk score for proven or probable IFD through multivariate regression,which included the following variables: male patients,induction chemotherapy for newly diagnosed or relapsed disease,neutropenia,neutropenia longer than 10 days,hypoalbuminemia,central-venous catheter,and history of IFD.The patients were classified into three groups,which had low (0-10,~1.2%),intermediate (11-15,6.4%),and high risk (> 15,17.5%) of IFD.In the validation set (n=1389),the IFD incidences of the groups were ~1.4%,5.0%,and 21.4%.In addition,we demonstrated that antifungal prophylaxis offered no benefits in low-risk patients,whereas benefits were documented in intermediate (2.1% vs.6.6%,P=0.007) and high-risk patients (8.4% vs.23.3%,P=0.007).To make the risk score applicable for clinical settings,a pre-chemo risk score that deleted all unpredictable factors before chemotherapy was established,and it confirmed that anti-fungal prophylaxis was beneficial in patients with intermediate and high risk of IFD.In conclusion,an objective,weighted risk score for IFD was developed,and it may be useful in guiding antifungal prophylaxis. | Ling Wang Ying Wang Jiong Hu Yuqian Sun He Huang Jing Chen Jianyong Li Jun Ma Juan Li Yingmin Liang Jianmin Wang Yan Li Kang Yu Jianda Hu Jie Jin Chun Wang Depei Wu Yang Xiao Xiaojun Huang | 2019 | Frontiers of Medicine2019，13，3： | 10 |
| 20 | Identification of a novel mutation in POU3F4 for prenatal diagnosis in a Chinese family with X-linked nonsyndromic hearing loss显示文摘We present the clinical and genetic findings for a Chinese family with X-linked non-syndromic hearing loss in which the affected males showed congenital profound sensorineural hearing impairment. In two affected brothers, the computer tomography of temporal bone showed bilateral dilation of the internal auditory canal with fistulous communication between the lateral canal and the basal cochlear turn, which is consistent with the typical DFNX2 phenotype. A missense mutation (c.647G→A) in the POU3F4 gene caused a substitu- tion from glycine to glutamic acid at position 216 (p.G216E), and this mutation was found to consistently cosegregate with the deafness phenotype in the family. The mutation resulted in the loss of function of the POU3F4 by decreasing the affinity between the protein and DNA, as shown in silico by the structural analysis. Prenatal diagnosis of pregnant proband of this family revealed the c.647G→A muta- tion in DNA extracted from the amniotic fluid surrounding the fetus. The appropriate use of genetic testing and prenatal diagnosis plays a key role in reducing the recurrence of genetic defects in high-risk families. | Jianzhong Li Jing Cheng Yanping Lu Yu Lu Airing Chen YiSun Dongyang Kang Xin Zhang Pu Dai Dongyi Han Huijun Yuan | 2010 | Journal of Genetics and Genomics2010，37，12： | 9 |
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