Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Zhongjin Xu"'
Autor:
Chongjun Wu, Yixin Yan, Ting Xiong, Wen Jiang, Jing Xu, Yanfei Rao, Jianyun Ao, Chun Xu, Xuehong Li, Longwang Qi, Wenhong Zheng, Wenjin Li, Zhongjin Xu, Yu Yang, Zhenjiang Li
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-12 (2024)
Abstract Objective This study aimed to investigate the clinical features, pathogenic gene variants, and potential genotype–phenotype correlations in Chinese patients with hereditary spherocytosis (HS). Methods Retrospective analysis of clinical dat
Externí odkaz:
https://doaj.org/article/268464dae8084d1e84ef13ac9b5dd48f
Autor:
Wen Wang, Li Xu, Jingsheng Wu, Weiyong Liu, Jiao Jin, Jing Huang, Zhongjin Xu, Yali Huang, Bai Li, Yufeng Liu, Qing Zhang, Min Zhou, Jie Peng, Qun Hu
Publikováno v:
Frontiers in Pediatrics, Vol 12 (2024)
ObjectiveTo study the current status of hemophilia B (HB) patients in the central and western regions of China.MethodsThis cross-sectional, multicenter study was conducted in seven provinces in the central and western regions of China from April 2019
Externí odkaz:
https://doaj.org/article/027467b653f7407da184b836252d1357
Publikováno v:
Frontiers in Immunology, Vol 15 (2024)
BackgroundHepatic Inflammatory Pseudotumor (IPT) is an infrequent condition often masquerading as a malignant tumor, resulting in misdiagnosis and unnecessary surgical resection. The emerging concept of IgG4-related diseases (IgG4-RD) has gained wide
Externí odkaz:
https://doaj.org/article/00b3e112c51e4de1a0ce68efd9b2b746
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
Objective: The objective of this study was to pinpoint pathogenic genes and assess the mutagenic pathogenicity in two pediatric patients with hereditary spherocytosis.Methods: We utilized whole-exome sequencing (WES) for individual analysis (case 1)
Externí odkaz:
https://doaj.org/article/8197d7a2f7a344d59a5fa581f21ab8fc
Autor:
Tingjun Liu, Ranran Li, Lili Sun, Zhongjin Xu, Shengxuan Wang, Jingxuan Zhou, Xuanning Wu, Kerong Shi
Publikováno v:
Cell & Bioscience, Vol 13, Iss 1, Pp 1-20 (2023)
Abstract Background Menin is a scaffold protein encoded by the Men1 gene, which interacts with various transcriptional proteins to activate or repress cellular processes and is a key mediator in multiple organs. Both liver-specific and hepatocyte-spe
Externí odkaz:
https://doaj.org/article/c625636974bf433f984f89ce5944e3cb
Autor:
Yongjun Fang, Min Zhou, Xiaojing Li, Huang Kun, Weiqun Xu, Zhongjin Xu, Changgang Li, Zhenping Chen, Runhui Wu
Publikováno v:
BMJ Open, Vol 11, Iss 7 (2021)
Introduction Haemophilia A is a rare inherited bleeding disease caused by the deficiency of coagulation factor VIII (FVIII). The main treatment protocol is to administer regular exogenous FVIII concentrate infusions. With the discovery of variability
Externí odkaz:
https://doaj.org/article/dc9ef06866ae430d83365a7b34891300
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
ObjectiveTo investigate the clinical and genetic characteristics of hereditary spherocythemia (HS) in Chinese children, and to analyze the potential genotypic/phenotypic associations.MethodsThe clinical data and gene test results of children with HS
Externí odkaz:
https://doaj.org/article/c59d2acfe29d499d9a3ca0672f199b00
Autor:
Kerong Shi, Fugui Niu, Qin Zhang, Chao Ning, Shujian Yue, Chengzhang Hu, Zhongjin Xu, Shengxuan Wang, Ranran Li, Qiuling Hou, Zhonghua Wang
Publikováno v:
Frontiers in Genetics, Vol 11 (2020)
A genome-wide association study (GWAS) was conducted on 23 serum biochemical traits in Chinese Holstein cattle. The experimental population consisted of 399 cattle, each genotyped by a commercial bovine 50K SNP chip, which had 49,663 SNPs. After data
Externí odkaz:
https://doaj.org/article/39595123296d4967ad95a0abbecec219
Publikováno v:
Animals, Vol 10, Iss 4, p 639 (2020)
Frequently occurring fatty liver disease in dairy cows during the perinatal period, a typical type of non-alcoholic fatty liver disease (NAFLD), results in worldwide high culling rates of dairy cows (averagely about 25%) after calving. This has been
Externí odkaz:
https://doaj.org/article/fc7b335e2c2e4550a9be187aa52adda8
Thrombotic thrombocytopenic purpura (TTP) is a rare and life-threatening thrombotic microangiopathy with clinical quintuple symptoms, including fever, thrombocytopenia, microangiopathic hemolytic anemia, neurological symptoms, and renal insufficiency
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7c0f1e9eefeefe67a6e848819628b95f
https://doi.org/10.21203/rs.3.rs-1000584/v1
https://doi.org/10.21203/rs.3.rs-1000584/v1