Zobrazeno 1 - 10
of 84
pro vyhledávání: '"BoBo Xie"'
Autor:
Yunting Ma, Chunrong Gui, Meizhen Shi, Lilin Wei, Junfang He, Bobo Xie, Haiyang Zheng, Xiaoyun Lei, Xianda Wei, Zifeng Cheng, Xu Zhou, Shaoke Chen, Jiefeng Luo, Yan Huang, Baoheng Gui
Publikováno v:
Human Genomics, Vol 18, Iss 1, Pp 1-14 (2024)
Abstract Background Deletion or duplication in the DMD gene is one of the most common causes of Duchenne and Becker muscular dystrophy (DMD/BMD). However, the pathogenicity of complex rearrangements involving DMD, especially segmental duplications wi
Externí odkaz:
https://doaj.org/article/53bdbb49b04c40d1bcdc0a8e3facd515
Autor:
Xiaojiao Wei, Yunting Ma, Bobo Xie, Chunrong Gui, Meizhen Shi, Xianda Wei, Yan Huang, Xin Fan, Qiaozhen Wei, Qingmei Huang, Li Deng, Chi Zhang, Xiaoli Deng, Baoheng Gui, Yujun Chen
Publikováno v:
BMC Medical Genomics, Vol 17, Iss 1, Pp 1-8 (2024)
Abstract Background Thoracic aortic aneurysm/dissection (TAAD) and patent ductus arteriosus (PDA) are serious autosomal-dominant diseases affecting the cardiovascular system. They are mainly caused by variants in the MYH11 gene, which encodes the hea
Externí odkaz:
https://doaj.org/article/ee2612d38b924c69ae8d4af682ab2fb3
Autor:
Shanzhi Shi, Mingxing Wang, Wei Tang, Yuting Pan, Haozeng Jin, Jiale He, Lei Hou, Bobo Xie, Xi Chen, Zhao Lv
Publikováno v:
Journal of Petroleum Exploration and Production Technology, Vol 14, Iss 4, Pp 1085-1099 (2024)
Abstract The change of fracture propagation direction caused by stress interference between fractures is one of the main reasons that affect shale gas productivity. Natural fractures will be damaged by the induced stress, and the induced stress field
Externí odkaz:
https://doaj.org/article/2eed8c4fe7e546a58ba9190941d09abd
Autor:
Xianda Wei, Xu Zhou, BoBo Xie, Meizhen Shi, Chunrong Gui, Bo Liu, Caiyan Li, Chi Zhang, Jiefeng Luo, Cundong Mi, Baoheng Gui
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Vascular Ehlers–Danlos syndrome (vEDS), the most severe type of Ehlers–Danlos syndrome, is caused by an autosomal-dominant defect in the COL3A1 gene. In this report, we describe the clinical history, specific phenotype, and genetic diagnosis of a
Externí odkaz:
https://doaj.org/article/e542adf0d157448faf90ba712b0fd8fe
Autor:
Xianzhu Han, Junlin Wu, Yongjun Ji, Jinjun Liu, Yang Liu, Bobo Xie, Xianjiang Chen, Hui Yin, Tianbo Liang
Publikováno v:
Energies, Vol 17, Iss 2, p 428 (2024)
Viscous slickwater has a higher viscosity and better sand-carrying ability than conventional slickwater at the same concentration. At a concentration of 0.4 wt.%, the viscosity of the viscous slickwater is 4.7 times that of the conventional slickwate
Externí odkaz:
https://doaj.org/article/51a5f30b3c6f4a609d9bf4d3566b2c1f
Autor:
Yunting Lin, Xiaohong Chen, Bobo Xie, Zhihong Guan, Xiaodan Chen, Xiuzhen Li, Peng Yi, Rong Du, Huifen Mei, Li Liu, Wen Zhang, Chunhua Zeng
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Objective: Wiedemann-Steiner syndrome (WSS) is a rare autosomal dominant disorder caused by deleterious heterozygous variants of the KMT2A gene. This study aims to describe the phenotypic and genotypic features of Chinese WSS patients, and assess the
Externí odkaz:
https://doaj.org/article/95dfcda6cdf842699d3002ebcc11ca75
Autor:
Meizhen Shi, Yuying Liang, Bobo Xie, Xianda Wei, Haiyang Zheng, Chunrong Gui, Rong Huang, Xin Fan, Chuan Li, Xiaojiao Wei, Yunting Ma, Shaoke Chen, Yujun Chen, Baoheng Gui
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Cornelia de Lange syndrome (CdLS) is an autosomal dominant or X-linked genetic disease with significant genetic heterogeneity. Variants of the NIPBL gene are responsible for CdLS in 60% of patients. Herein, we report the case of a patient with CdLS s
Externí odkaz:
https://doaj.org/article/c2ab08a0952c4ec2be91a738b5d223d3
Attention-Enhanced Generative Adversarial Network for Hyperspectral Imagery Spatial Super-Resolution
Publikováno v:
Remote Sensing, Vol 15, Iss 14, p 3644 (2023)
Hyperspectral imagery (HSI) with high spectral resolution contributes to better material discrimination, while the spatial resolution limited by the sensor technique prevents it from accurately distinguishing and analyzing targets. Though generative
Externí odkaz:
https://doaj.org/article/03beb2bd215f47de8270157ab602c858
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 10, Iss 4, Pp n/a-n/a (2022)
Abstract Objective Craniosynostosis is the result of the early fusion of cranial sutures. Syndromic craniosynostosis includes but not limited by Crouzon syndrome and Pfeiffer syndrome. Considerable phenotypic overlap exists among these syndromes and
Externí odkaz:
https://doaj.org/article/c2e3dd137a3c4f6e9e1efe4857a35884
Autor:
Jiasun Su, Huayu Fu, Bobo Xie, Weiliang Lu, Wei Li, Yuan Wei, Qiang Zhang, Shengkai Wei, Qiuli Chen, Yingchi Lu, Tingting Jiang, Jingsi Luo, Zailong Qin
Publikováno v:
Molecular Cytogenetics, Vol 12, Iss 1, Pp 1-6 (2019)
Abstract Background Cri-du-chat syndrome (CdCS; OMIM#123450) is a classic contiguous gene syndrome caused by chromosome 5p terminal deletion (5p-), which characterized by a high-pitched cat-like cry, developmental delay, severe psychomotor, mental re
Externí odkaz:
https://doaj.org/article/b988669035c5424b99a896023196675a