Zobrazeno 1 - 10
of 27
pro vyhledávání: '"Yuanying Chen"'
Publikováno v:
BMC Medical Genomics, Vol 16, Iss 1, Pp 1-11 (2023)
Abstract Background Aminoacyl-tRNA synthetases (ARSs) are indispensable enzymes for protein biosynthesis in cells. The phenylalanyl-tRNA synthetase (FARS1) located in cytoplasm which consists of two FARS alpha subunits (FARSA) and two FARS beta subun
Externí odkaz:
https://doaj.org/article/cd91398dcbc240529fbe0915b659e351
Autor:
Jun Guo, Kun He, Chanjuan Hao, Qiqing Sun, Yaodong Zhang, Ruili Zheng, Yuanying Chen, Zhenhua Xie, Fangjie Wang
Publikováno v:
BMJ Paediatrics Open, Vol 8, Iss 1 (2024)
Objectives This study aimed to describe the genetic and clinical characteristics of paediatric cardiomyopathy in a cohort of Chinese patients.Methods We retrospectively reviewed the clinical history and mutation spectrum of 75 unrelated Chinese paedi
Externí odkaz:
https://doaj.org/article/88cc4335f4d64717b7b20d8e187e193f
Autor:
Qiaochu Wang, Zengge Wang, Yizhen Wang, Zhan Qi, Dayong Bai, Chentong Wang, Yuanying Chen, Wenjian Xu, Xili Zhu, Jaepyo Jeon, Jian Xiong, Chanjuan Hao, Michael Xi Zhu, Aihua Wei, Wei Li
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-16 (2023)
TPC2 is an important organellar Na+/Ca2+ release channel which regulates function of lysosomes and lysosome-related organelles. Here, Wang et al. demonstrate that a gain-of-function mutation (R210C) in TPC2 leads to hypopigmentaion, enlarged endolyso
Externí odkaz:
https://doaj.org/article/d3cc3c6fd0c041d1a415597d3cfe7284
Autor:
Yuanying Chen, Boliang Fang, Xuyun Hu, Ruolan Guo, Jun Guo, Kenan Fang, Jingwen Ni, Wei Li, Suyun Qian, Chanjuan Hao
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-10 (2021)
Abstract Background Thiamine metabolism dysfunction syndrome 4 (THMD4, OMIM #613710) is an autosomal recessive inherited disease caused by the deficiency of SLC25A19 that encodes the mitochondrial thiamine pyrophosphate (TPP) transporter. This disord
Externí odkaz:
https://doaj.org/article/461027c381034d498687e1811b6ce7b3
Autor:
Yuanying Chen, Qiqing Sun, Chanjuan Hao, Ruolan Guo, Chentong Wang, Weili Yang, Yaodong Zhang, Fangjie Wang, Wei Li, Jun Guo
Publikováno v:
Frontiers in Medicine, Vol 9 (2022)
BackgroundDilated cardiomyopathy (DCM), which is a major cause of heart failure, is a primary cardiac muscle disease with high morbidity and mortality rates. DCM is a genetically heritable disease and more than 10 gene ontologies have been implicated
Externí odkaz:
https://doaj.org/article/d0c6642c23074252aab1abb238509e17
Autor:
Qiqing Sun, Jun Guo, Chanjuan Hao, Ruolan Guo, Xuyun Hu, Yuanying Chen, Weili Yang, Wei Li, Yingjun Feng
Publikováno v:
Pediatric Investigation, Vol 4, Iss 1, Pp 11-16 (2020)
Abstract Importance Pathogenic variants in the RBM20 gene are associated with aggressive dilated cardiomyopathy (DCM). Recently, RBM20 was found to be associated with left ventricular non‐compaction cardiomyopathy (LVNC). Thus far, only five famili
Externí odkaz:
https://doaj.org/article/d7815da487cd48cd8facc8139eb16024
Publikováno v:
Water, Vol 11, Iss 7, p 1407 (2019)
This study uses controlled numerical experimentation to comparatively simulate and investigate solute transport and concentration responses and patterns in the Baltic Sea for various solute releases from the land through two different coastal cases.
Externí odkaz:
https://doaj.org/article/023b290c1c934756a5e5925861857d3c
Publikováno v:
Water, Vol 11, Iss 3, p 552 (2019)
For the large-scale coastal wetland system of the Baltic Sea, this study develops a methodology for investigating if and to what degree the variability and changes in certain hydro-climatic drivers control key coastal–marine physical conditions. Th
Externí odkaz:
https://doaj.org/article/d1bc7c6748ae4ab3a13ae6d2e635e19b
Autor:
Chanjuan Hao, Xuyun Hu, Kenan Fang, Jingwen Ni, Jun Guo, Wei Li, Suyun Qian, Boliang Fang, Yuanying Chen, Ruolan Guo
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-10 (2021)
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases
Background Thiamine metabolism dysfunction syndrome 4 (THMD4, OMIM #613710) is an autosomal recessive inherited disease caused by the deficiency of SLC25A19 that encodes the mitochondrial thiamine pyrophosphate (TPP) transporter. This disorder is cha
Autor:
Yingchun Wang, Weilin Zhang, Ting Li, Lin Yang, Li Wei, Teng Liu, Aihua Wei, Xiahe Huang, Yuanying Chen, Yefeng Yuan, Quan Chen
Publikováno v:
Blood. 137:1804-1817
Lysosome-related organelles (LROs) are a category of secretory organelles enriched with ions such as calcium, which are maintained by ion transporters or channels. Homeostasis of these ions is important for LRO biogenesis and secretion. Hermansky-Pud