Zobrazeno 1 - 10
of 28
pro vyhledávání: '"Xianda Wei"'
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:
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:
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
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:
Baoheng Gui, Chenxi Yu, Xiaoxin Li, Sen Zhao, Hengqiang Zhao, Zihui Yan, Xi Cheng, Jiachen Lin, Haiyang Zheng, Jiashen Shao, Zhengye Zhao, Lina Zhao, Yuchen Niu, Zhi Zhao, Huizi Wang, Bobo Xie, Xianda Wei, Chunrong Gui, Chuan Li, Shaoke Chen, Yi Wang, Yanning Song, Chunxiu Gong, Terry Jianguo Zhang
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 9 (2021)
PurposeROR2, a member of the ROR family, is essential for skeletal development as a receptor of Wnt5a. The present study aims to investigate the mutational spectrum of ROR2 in children with short stature and to identify the underlying molecular mecha
Externí odkaz:
https://doaj.org/article/dedeaba4d25c45a883232970fa5d6644
Autor:
Yanghui Zhang, Haoxian Li, Jing Liu, Huiming Yan, Qin Liu, Xianda Wei, Hui Xi, Zhengjun Jia, Lingqian Wu, Hua Wang
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 9, Pp n/a-n/a (2019)
Abstract Background Primary carnitine deficiency (PCD) is an autosomal recessive disorder of carnitine transportation caused by mutations in the SLC22A5 that lead to low serum carnitine levels and decreased intracellular carnitine accumulation. Chara
Externí odkaz:
https://doaj.org/article/f4cefedc31e84f739d3d2e9d69eb5ac2
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; 2024, p1-10, 10p
Autor:
Yanling Teng, Yuyan Gong, David S. Cram, Miaojin Zhou, Zhuo Li, Huimin Zhu, Xianda Wei, Lianshu Han, Lingqian Wu, Weigang Lv, Desheng Liang
Publikováno v:
BJOG: An International Journal of Obstetrics & Gynaecology. 126:1466-1474
OBJECTIVE To assess the diagnostic performance of a novel circulating single molecule amplification and re-sequencing technology (cSMART) method for noninvasive prenatal testing (NIPT) of Phenylketonuria (PKU). DESIGN Blinded NIPT analysis of pregnan
Autor:
Lanlan Zeng, Xianda Wei, Desheng Liang, Yu Zheng, Yue Zhang, Lingqian Wu, Hu Tan, Rui Zhang, Yiqiao Hu, Jing Guo, Yongyi Zou, Bo Tan, Xiaomei Luo
Publikováno v:
Journal of Human Genetics. 62:513-516
GATA zinc finger domain-containing 2B (GATAD2B) is a subunit of the methyl-CpG-binding protein-1 complex (MECP1), which deacetylates methylated nucleosomes and regresses transcriptional activity. Recently, GATAD2B has been elucidated as a candidate g
Autor:
Yanghui Zhang, Haoxian Li, Jing Liu, Huiming Yan, Qin Liu, Xianda Wei, Hui Xi, Zhengjun Jia, Lingqian Wu, Hua Wang
Publikováno v:
Molecular Genetics & Genomic Medicine. 7
The cover image is based on the Original Article Molecular investigation in Chinese patients with primary carnitine deficiency by Yanghui Zhang et al., https://doi.org/10.1002/mgg3.901. [Image: see text]