Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Xunwei Jiang"'
Publikováno v:
BMC Medical Genomics, Vol 17, Iss 1, Pp 1-9 (2024)
Abstract Congenital long QT syndrome (LQTS) is a genetic heart disorder, which may lead to life-threatening arrhythmias, especially in children. Here, we reported two children who were initially misdiagnosed with epilepsy and experienced Torsades de
Externí odkaz:
https://doaj.org/article/27572d58c7b74a3183274a04ba09281d
Autor:
Qiuping Lin, Zhen Wang, Guohui Ding, Guang Li, Liqin Chen, Qingzhu Qiu, Sirui Song, Wei Liu, Xunwei Jiang, Min Huang, Libing Shen, Tingting Xiao, Lijian Xie
Publikováno v:
Frontiers in Immunology, Vol 15 (2024)
BackgroundKawasaki disease (KD) is an acute systemic vasculitis that can lead to acquired heart disease in children mostly from in developed countries. The previous research showed that B cells in KD patients underwent a profound change in both the c
Externí odkaz:
https://doaj.org/article/449d2e10c8e04339925874fe4f33cd98
Autor:
Cuilan Hou, Xunwei Jiang, Han Zhang, Junmin Zheng, Qingzhu Qiu, Yongwei Zhang, Xiaomin Sun, Meng Xu, Alex Chia Yu Chang, Lijian Xie, Tingting Xiao
Publikováno v:
Communications Biology, Vol 5, Iss 1, Pp 1-13 (2022)
The endoplasmic reticulum protein TECRL promotes mitochondrial function in cardiomyocytes and its knockout in mice leads to cardiac dysfunction, decreased mitochondria function, and elevated levels of reactive oxygen species.
Externí odkaz:
https://doaj.org/article/f22d737e5451465cb0dee302a172a320
Autor:
Junmin Zheng, Zhuangzhuang Huang, Shan Hou, Xunwei Jiang, Yongwei Zhang, Wei Liu, Jia Jia, Yun Li, Xiaomin Sun, Lijian Xie, Xiaopei Zhao, Cuilan Hou, Tingting Xiao
Publikováno v:
Frontiers in Pediatrics, Vol 10 (2022)
Hypertrophic cardiomyopathy (HCM) is an autosomal dominant cardiomyopathy, which is one of the most common reasons for cardiac arrest in children or adolescents. It is characterized by ventricular hypertrophy (usually left ventricle), small ventricul
Externí odkaz:
https://doaj.org/article/a02d172eeb8c4435a78e1ee639e6e473
Publikováno v:
Stem Cell Research, Vol 62, Iss , Pp 102811- (2022)
TECRL, first reported in a Sudanese family with catecholaminergic polymorphic ventricular tachycardia (CPVT) in 2016. TECRL, is an endoplasmic reticulum (ER) protein preferentially expressed in the heart, playing a role in cardiomyocyte calcium homeo
Externí odkaz:
https://doaj.org/article/7a3a497e3ae942dbb8efc5f0171250f3
Publikováno v:
BMC Pediatrics, Vol 19, Iss 1, Pp 1-5 (2019)
Abstract Background Abernethy malformation is an extremely rare congenital malformation characterised by an extrahepatic portosystemic shunt. Children with Abernathy malformation can develop hepatopulmonary syndrome (HPS) with pulmonary arteriovenous
Externí odkaz:
https://doaj.org/article/a515448482384e4c8fd002c9da1ad92a
Autor:
Cuilan Hou, Lijian Xie, Xunwei Jiang, Tingting Xiao, Han Zhang, Xiaomin Sun, Yanfang Zong, Yongwei Zhang, Wei Liu, Yun Li
Publikováno v:
Transl Pediatr
Hereditary hemorrhagic telangiectasis (HHT) is an autosomal dominant vascular disease, and approximately 80% of all HHT cases are caused by gene mutation. In this report, we analyzed the case of an 11-year-old girl who had intracranial bleeding when
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4f493a69f6913d00106bb10a91b385e3
https://doi.org/10.21037/tp-20-156
https://doi.org/10.21037/tp-20-156
Publikováno v:
Gene Reports. 24:101250
Background J wave syndromes (JWS) are life-threatening arrhythmias characterized by a prominent J wave in electrocardiograms. Methods Whole exome sequencing was utilized to uncover genetic variants associated with JWS. Pathogenicity score and mode of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4a77a770f997d6a6e81044b1981fe8a5
https://doi.org/10.1016/j.genrep.2021.101250
https://doi.org/10.1016/j.genrep.2021.101250
Publikováno v:
European journal of medical genetics. 62(7)
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is one of the most common causes of sudden cardiac death (SCD) during childhood and in adolescence. Trans-2, 3-enoyl-CoA reductase-like (Tecrl) gene mutations (Arg196Gln and c.331+1G > A sp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::adb27d3d15bdefba3ba8d31cacaf3b45
https://pubmed.ncbi.nlm.nih.gov/30790670
https://pubmed.ncbi.nlm.nih.gov/30790670