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一例X染色体结构重排导致DMD疾病 被引量:2
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作者 胡浩 杨晓文 +11 位作者 程德华 李秀蓉 何文斌 胡晓 高伯笛 赵晓蒙 张前军 杜娟 刘激扬 卢光琇 林戈 李汶 《遗传》 CAS CSCD 北大核心 2023年第1期88-95,共8页
假肥大型肌营养不良(Duchenne/Becker muscular dystrophy,DMD/BMD)是一种最常见的进行性肌营养不良疾病,呈X-连锁隐性遗传,主要由DMD基因的缺失、重复及点突变所致,极少数病例是由于染色体结构重排破坏了DMD基因而引起疾病的发生。本... 假肥大型肌营养不良(Duchenne/Becker muscular dystrophy,DMD/BMD)是一种最常见的进行性肌营养不良疾病,呈X-连锁隐性遗传,主要由DMD基因的缺失、重复及点突变所致,极少数病例是由于染色体结构重排破坏了DMD基因而引起疾病的发生。本文报告了1例经多重连接探针扩增技术(multiplex ligation-dependent probe amplification,MLPA)和下一代测序检测后原因未明的、具有典型症状的DMD患者。采用核型分析、FISH分析及三代测序、Sanger测序综合分析发现,患者存在母源性的X染色体臂间倒位(Chr.X:g.[31939463–31939465del;31939466–131765063 inv;131765064–131765067del])半合子变异。由于该变异破坏了DMD基因和HS6ST2基因,因此推测该变异是患者发病的遗传学病因。患者表现肌无力等典型的DMD症状,没有明显的Paganini-Miozzo综合征相关症状。本病例的明确诊断,提示结构重排破坏DMD基因也是导致DMD重要原因之一;常规遗传学检测阴性的患者应考虑核型分析、FISH验证等结构重排变异检测技术,通过三代测序技术能确定大概的重排断点位置,Sanger测序可明确断点区域序列。本病例报告通过明确的遗传学诊断为该患者所在家庭进行生殖干预、降低再生育风险提供了诊疗基础。 展开更多
关键词 DMD 结构重排 核型分析 FISH 断点分析
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Enhancement of Biomass Material Characterization Images Using an Improved U-Net 被引量:1
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作者 Zuozheng Lian Hong Zhao +2 位作者 qianjun zhang Haizhen Wang E.Erdun 《Computers, Materials & Continua》 SCIE EI 2022年第7期1515-1528,共14页
For scanning electronmicroscopes with high resolution and a strong electric field,biomass materials under observation are prone to radiation damage from the electron beam.This results in blurred or non-viable images,w... For scanning electronmicroscopes with high resolution and a strong electric field,biomass materials under observation are prone to radiation damage from the electron beam.This results in blurred or non-viable images,which affect further observation of material microscopic morphology and characterization.Restoring blurred images to their original sharpness is still a challenging problem in image processing.Traditionalmethods can’t effectively separate image context dependency and texture information,affect the effect of image enhancement and deblurring,and are prone to gradient disappearance during model training,resulting in great difficulty in model training.In this paper,we propose the use of an improvedU-Net(U-shapedConvolutional Neural Network)to achieve image enhancement for biomass material characterization and restore blurred images to their original sharpness.The main work is as follows:use of depthwise separable convolution instead of standard convolution in U-Net to reduce model computation effort and parameters;embedding wavelet transform into the U-Net structure to separate image context and texture information,thereby improving image reconstruction quality;using dense multi-receptive field channel modules to extract image detail information,thereby better transmitting the image features and network gradients,and reduce the difficulty of training.The experiments show that the improved U-Net model proposed in this paper is suitable and effective for enhanced deblurring of biomass material characterization images.The PSNR(Peak Signal-to-noise Ratio)and SSIM(Structural Similarity)are enhanced as well. 展开更多
关键词 U-Net wavelet transform image enhancement biomass material characterization
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Electronically enhancing the long-range nanopositioning accuracy of a Lorentz force actuator
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作者 Bimal Jeet GOTEEA qianjun zhang Wei DONG 《Frontiers of Information Technology & Electronic Engineering》 SCIE EI CSCD 2023年第7期1080-1092,共13页
This paper presents a precision centimeter-range positioner based on a Lorentz force actuator using flexure guides.An additional digital-to-analog converter and an operational amplifier(op amp)circuit together with a ... This paper presents a precision centimeter-range positioner based on a Lorentz force actuator using flexure guides.An additional digital-to-analog converter and an operational amplifier(op amp)circuit together with a suitable controller are used to enhance the positioning accuracy to the nanometer level.First,a suitable coil is designed for the actuator based on the stiffness of the flexure guide model.The flexure mechanism and actuator performance are then verified with finite element analysis.Based on these,a means to enhance the positioning performance electronically is presented together with the control scheme.Finally,a prototype is fabricated,and the performance is evaluated.This positioner features a range of 10 mm with a resolution of 10 nm.The proposed scheme can be extended to other systems. 展开更多
关键词 NANOPOSITIONING Flexure guides Long range Voice coil motor Lorentz force actuator
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Convolutional adaptive denoising autoencoders for hierarchical feature extraction 被引量:5
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作者 qianjun zhang Lei zhang 《Frontiers of Computer Science》 SCIE EI CSCD 2018年第6期1140-1148,共9页
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Selective detection of Zn^(2+) and Cd^(2+) ions in water using a host-guest complex between chromone and Q[7]
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作者 Zhishu Zeng Yunqian zhang +4 位作者 Xiaodong zhang Guangyan Luo Jun Xie Zhu Tao qianjun zhang 《Chinese Chemical Letters》 SCIE CAS CSCD 2021年第8期2572-2576,共5页
In this paper,the host-guest interaction of cucurbit[7]uril(Q[7]) and chromone(CMO) has been developed as a fluorescent probe for the highly selective detection of Zn2+ and Cd^(2+) in water based on a chelation-enhanc... In this paper,the host-guest interaction of cucurbit[7]uril(Q[7]) and chromone(CMO) has been developed as a fluorescent probe for the highly selective detection of Zn2+ and Cd^(2+) in water based on a chelation-enhanced fluorescence(CHEF) mechanism.There was a good linear relationship between the fluorescence intensity of the CMO@Q[7] probe and the concentration of Zn^(2+ )or Cd^(2+) in the range of 0-3.0×10^(-5) mol/L and the detection limit for Zn^(2+) and Cd2+ was found to be 2.03×10^(-6) mol/L and 1.89×10^(-6)mol/L,respectively.The X-ray crystal structure indicated that different coordination fashions were triggered by Zn^(2+) and Cd^(2+ )in the CMO@Q[7] complexes,respectively.However,both metal ions coordinated with the carbonyl oxygen of CMO,which was encapsulated in the cavity of Q[7],thus leading to the enhancement of recognition fluorescence emission of CMO. 展开更多
关键词 CHROMONE uril Host-guest interaction Selective detection Zn^(2+)and Cd^(2+)
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