Zobrazeno 1 - 10
of 507
pro vyhledávání: '"Yiping, Shen"'
Autor:
Shujie Zhang, Haisong Qin, Qingming Wang, Yingfei Wang, Yanhui Liu, Qi Yang, Jingsi Luo, Zailong Qin, Xiang Ji, Lijuan Kan, Guoxing Geng, Jing Huang, Shengkai Wei, Qiuli Chen, Yiping Shen, Haiming Yuan, Baoling Lai
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-6 (2024)
Abstract Biallelic pathogenic variants in TARS2 lead to combined oxidative phosphorylation deficiency, subtype 21 (COXPD21, MIM #615918), which is a rare mitochondrial encephalomyopathy (ME) characterized by early-onset severe axial hypotonia, limb h
Externí odkaz:
https://doaj.org/article/8be34e77e1ac4cecbd08e2d7d860c3ed
Autor:
Yu Shi, Daochao Huang, Cui Song, Ruixue Cao, Zhao Wang, Dan Wang, Li Zhao, Xiaolu Xu, Congyu Lu, Feng Xiong, Haowen Zhao, Shuxiang Li, Quansheng Zhou, Shuyue Luo, Dongjie Hu, Yun Zhang, Cui Wang, Yiping Shen, Weiting Su, Yili Wu, Karl Schmitz, Shuo Wei, Weihong Song
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-12 (2024)
Abstract Diphthamide is a modified histidine residue unique for eukaryotic translation elongation factor 2 (eEF2), a key ribosomal protein. Loss of this evolutionarily conserved modification causes developmental defects through unknown mechanisms. In
Externí odkaz:
https://doaj.org/article/73982cce84ef49d5907a2ca0149d1f05
Autor:
Man Li, Xiawan Yang, Yaonan Hong, Qi Liu, Yingying Shen, Tonglin Hu, Yiping Shen, Guoyin Kai, Dijiong Wu
Publikováno v:
Heliyon, Vol 10, Iss 16, Pp e35847- (2024)
Venetoclax, a selective BCL-2 inhibitor, has shown superior efficacy in the treatment of AML. Nevertheless, some AML patients with AML1-ETO respond poorly to venetoclax treatment. In this report, a relapsed/refractory (R/R) venetoclax resistant AML1-
Externí odkaz:
https://doaj.org/article/a67f3981d4694653ba18086bd3a6cda1
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-10 (2024)
Abstract Background Pitt–Hopkins syndrome (PTHS) is a neurodevelopmental disorder that remains underdiagnosed and its clinical presentations and mutation profiles in a diverse population are yet to be evaluated. This retrospective study aims to inv
Externí odkaz:
https://doaj.org/article/5b68b4dc7acc4619bc708151bbe77485
Autor:
Tianyu Ji, Zhixin Wen, Zhaoming Wang, Chengpeng Song, Zhengjun He, Xi Chen, Hengxuan Li, Yiping Shen
Publikováno v:
Energy Exploration & Exploitation, Vol 42 (2024)
The East African Rift System (EARS) is the youngest rift with the eastern and western branches, consisting of multiple secondary rifts. It is generally characterized by low extent of exploration and great exploration potential. Identifying the differ
Externí odkaz:
https://doaj.org/article/756eda50ca22403a89adbc5a4e99a876
Autor:
Afif Ben-Mahmoud, Shotaro Kishikawa, Vijay Gupta, Natalia T. Leach, Yiping Shen, Oana Moldovan, Himanshu Goel, Bruce Hopper, Kara Ranguin, Nicolas Gruchy, Saskia M Maas, Yves Lacassie, Soo-Hyun Kim, Woo-Yang Kim, Bradley J. Quade, Cynthia C. Morton, Cheol-Hee Kim, Lawrence C. Layman, Hyung-Goo Kim
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-23 (2023)
Abstract In a patient diagnosed with both Kallmann syndrome (KS) and intellectual disability (ID), who carried an apparently balanced translocation t(7;12)(q22;q24)dn, array comparative genomic hybridization (aCGH) disclosed a cryptic heterozygous 4.
Externí odkaz:
https://doaj.org/article/bf1deb454d1b4cdc861f88bc21658a2b
Autor:
Niu Li, Yufei Xu, Hongzhu Chen, Jingqi Lin, Lama AlAbdi, Mir Reza Bekheirnia, Guoqiang Li, Yoel Gofin, Nasim Bekheirnia, Eissa Faqeih, Lina Chen, Guoying Chang, Jie Tang, Ruen Yao, Tingting Yu, Xiumin Wang, Wei Fu, Qihua Fu, Yiping Shen, Fowzan S. Alkuraya, Keren Machol, Jian Wang
Publikováno v:
EBioMedicine, Vol 99, Iss , Pp 104940- (2024)
Summary: Background: Pathogenic variants in the centrosome protein (CEP) family have been implicated in primary microcephaly, Seckel syndrome, and classical ciliopathies. However, most CEP genes remain unlinked to specific Mendelian genetic diseases
Externí odkaz:
https://doaj.org/article/feaa18e3ae4044efa81e50c3d6abb23f
Autor:
Yingying Shen, Yuzhu Li, Qi Liu, Wenbin Liu, Qinghong Yu, Huijin Hu, Shan Liu, Jingjie Dong, Min Xu, Yaonan Hong, Ying Chen, Shu Deng, Haifeng Zhuang, Zhiping Hu, Shenyun Lin, Yiping Shen, Jianping Shen, Yuhong Zhou, Baodong Ye, Dijiong Wu
Publikováno v:
Annals of Medicine, Vol 55, Iss 2 (2023)
AbstractObjectives The selection and timing of anti-thymocyte globulin (ATG)-based immunosuppressive therapy (IST) or allogeneic hematopoietic stem cell transplantation (allo-HSCT) in patients with transfusion-dependent non-severe aplastic anemia (TD
Externí odkaz:
https://doaj.org/article/0833447182c94a3ba0205f8709d3e9e7
Autor:
Yun Chen, Yunli Lai, Jian Yi, Shang Yi, Xiaoshan Huang, Yanqing Tang, Jiasun Su, Yiping Shen, Hongwei Wei
Publikováno v:
Clinical and Experimental Obstetrics & Gynecology, Vol 51, Iss 5, p 114 (2024)
Background: To evaluate the clinical performance and clinical implementation of noninvasive prenatal testing (NIPT) using fetal fraction (FF) enrichment. Methods: Both standard NIPT and NIPT with FF enrichment were performed concurrently to 277 clini
Externí odkaz:
https://doaj.org/article/9585fa3211ca42f6bb3935460d66c7c8
Publikováno v:
Advances in Mechanical Engineering, Vol 15 (2023)
Based on the slice theory and numerical calculation methods, the time varying meshing stiffness (TVMS) calculation method of the gear pair was constructed for the helical gear pair of a electric continuously variable transmission (ECVT), and the TVMS
Externí odkaz:
https://doaj.org/article/3902f1076afe4a8ea347b1ab1f0e242c