Zobrazeno 1 - 10
of 99
pro vyhledávání: '"Hairui Sun"'
Publikováno v:
Stem Cell Research, Vol 77, Iss , Pp 103399- (2024)
Tuberous Sclerosis Complex (TSC) is a severe developmental disorder with various clinical effects, primarily caused by TSC2 gene mutations, often involving loss of function(Henske,et al., 2016).To explore role of TSC2 in human heart development, we s
Externí odkaz:
https://doaj.org/article/9ad77cd8587d4338bbabd3c45898edc5
Genetic aetiology distribution of 398 foetuses with congenital heart disease in the prenatal setting
Autor:
Tong Yi, Xiaoyan Hao, Hairui Sun, Ye Zhang, Jiancheng Han, Xiaoyan Gu, Lin Sun, Xiaowei Liu, Ying Zhao, Yong Guo, Xiaoxue Zhou, Yihua He
Publikováno v:
ESC Heart Failure, Vol 10, Iss 2, Pp 917-930 (2023)
Abstract Aims Copy number variant‐sequencing (CNV‐seq) and exome sequencing (ES) have been used as powerful tools in understanding the role of genetic variants in congenital heart diseases (CHDs). A few previous large cohort studies have utilized
Externí odkaz:
https://doaj.org/article/eb5fe27669bd45639af7450ca1145181
Autor:
Hairui Sun, Lu Han, Xiaoyan Hao, Zhaoyi Chen, Jingyi Wang, Tong Yi, Xiaoxue Zhou, Xiaoyan Gu, Jiancheng Han, Ye Zhang, Lin Sun, Xiaowei Liu, Siyao Zhang, Yong Guo, Hongjia Zhang, Yihua He
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-7 (2022)
Abstract Fetal aberrant right subclavian artery (ARSA) is a relatively common sonographic finding. Congenital heart disease (CHD) is the most common structural abnormality in patients with ARSA. We aimed to assess the prevalence of genetic abnormalit
Externí odkaz:
https://doaj.org/article/513c9572e3594d87bf4e2bc0fa7094b2
Publikováno v:
BMC Medical Genomics, Vol 15, Iss 1, Pp 1-5 (2022)
Abstract Background Coffin-Siris syndrome-8 (CSS8) is a rare autosomal dominant disorder caused by variants in SMARCC2, a core subunit of the chromatin-remodeling complex BRG1-associated factor (BAF). The clinical characteristics of this disorder hav
Externí odkaz:
https://doaj.org/article/36ad0377644f424f8e8ff99b6b85b7b7
Publikováno v:
BMC Medical Genomics, Vol 15, Iss 1, Pp 1-6 (2022)
Abstract Background Left ventricular non-compaction cardiomyopathy (LVNC) is a rare congenital heart defect. Gene defections have been found in patients with LVNC and their family members; and MYH7 is the most frequent gene associated with LVNC. Meth
Externí odkaz:
https://doaj.org/article/494569acc0ae4ea8b670cc46e050a5ee
Publikováno v:
Journal of Advanced Transportation, Vol 2023 (2023)
A detailed evaluation of the riding environment can help the government master the urban riding environment, identify problematic road sections, and improve riding quality. However, the current evaluation of riding environment is mainly subjective, l
Externí odkaz:
https://doaj.org/article/767948c698cd42dba60c1258f051631f
Autor:
Jingjing Liu, Yuduo Wu, Hairui Sun, Xiaowei Liu, Xiaoyan Gu, Ying Zhao, Ye Zhang, Jiancheng Han, Yihua He
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Objective: This study aims to characterize the abnormal changes in placental DNA methylation associated with conotruncal heart defects (CTDs) and the level of methylation as epigenetic biomarkers for CTDs detection.Methods: This was a prospective stu
Externí odkaz:
https://doaj.org/article/b9c3f5b54dc540d08794d94d4cb33743
Autor:
Tong Yi, Hairui Sun, Yuwei Fu, Xiaoyan Hao, Lin Sun, Ye Zhang, Jiancheng Han, Xiaoyan Gu, Xiaowei Liu, Yong Guo, Xin Wang, Xiaoxue Zhou, Siyao Zhang, Qi Yang, Jiaqi Fan, Yihua He
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Objectives: Some genetic causes of heterotaxy have been identified in a small number of heterotaxy familial cases or animal models. However, knowledge on the genetic causes of heterotaxy in the fetal population remains scarce. Here, we aimed to inves
Externí odkaz:
https://doaj.org/article/3b575c98110f4450891f1e558d386aed
Autor:
Hairui Sun, Xiaowei Liu, Xiaoyan Hao, Xiaoxue Zhou, Jingyi Wang, Jiancheng Han, Mengmeng Liang, Hongjia Zhang, Yihua He
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Background: Left ventricular noncompaction (LVNC) is a rare cardiomyopathy, long QT syndrome (LQTS) is a rare ion channel disease, and simultaneous occurrence of both is even rarer. Further clinical reports and studies are needed to identify the asso
Externí odkaz:
https://doaj.org/article/00277a11f99246d2b40d8e416a36de65
Publikováno v:
Hereditas, Vol 158, Iss 1, Pp 1-5 (2021)
Abstract Marfan syndrome (MFS) is one of the most common hereditary connective tissue diseases, with great individual heterogeneity. We reported a Chinese pregnancy with Clinical diagnosis of MFS, performed whole-exome sequencing, and screened for th
Externí odkaz:
https://doaj.org/article/0060a222da3346e4bb00722fa62f235d