Zobrazeno 1 - 10
of 27
pro vyhledávání: '"Haixiao, Xie"'
Autor:
Ke Zhang, Langyi Qin, Fei Xu, Longying Ye, Mengzhen Wen, Jingye Pan, Lihong Yang, Mingshan Wang, Haixiao Xie
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-11 (2024)
Abstract Background Factor XI (FXI) deficiency is an autosomal hemorrhagic disorder characterized by reduced plasma FXI levels. Multiple ancestral variants in the F11 gene have been identified in Ashkenazi Jews and other selected European populations
Externí odkaz:
https://doaj.org/article/d807c23ec3214363b66bfc16e24d4cf0
Autor:
Manlin Zeng, Kaiqi Jia, Haixiao Xie, Yaosheng Xie, Lihong Yang, Yuan Chen, Yanhui Jin, Mingshan Wang
Publikováno v:
Indian Journal of Hematology and Blood Transfusion.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8b65a7359cdbadedbeb80c3b24808f00
https://doi.org/10.1007/s12288-023-01666-x
https://doi.org/10.1007/s12288-023-01666-x
Publikováno v:
Hamostaseologie.
Background Hereditary coagulation factor XII (FXII) deficiency is an autosomal recessive disorder. At present, the contribution of severe FXII deficiency to the development of thromboembolism is still undetermined. There are limited reports on the re
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6fe4caf15ea82f600c5f1ad1aa0fcc5e
https://pubmed.ncbi.nlm.nih.gov/36481867
https://pubmed.ncbi.nlm.nih.gov/36481867
Publikováno v:
Blood Coagulation & Fibrinolysis. 33:61-66
The aim of this study was to explore the molecular pathogenesis of two families with compound heterozygous hereditary factor XI deficiency. All the exons, flanking sequences, 5' and 3' untranslated regions of the F11 gene were analysed by direct DNA
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fab0648c61b1c656f26f4415f1c5ad29
https://doi.org/10.1097/mbc.0000000000001105
https://doi.org/10.1097/mbc.0000000000001105
Publikováno v:
Blood coagulationfibrinolysis : an international journal in haemostasis and thrombosis. 33(6)
The objective of the study was to analyse a novel F13A1 gene mutation in a Chinese patient with factor XIII (FXIII) deficiency and explore the molecular mechanism. Pedigree investigation, clinical diagnosis, phenotypic and genetic analysis were condu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6422a34b3d15c3945d138ab92875e318
https://pubmed.ncbi.nlm.nih.gov/35981255
https://pubmed.ncbi.nlm.nih.gov/35981255
Autor:
Haixiao, Xie, Lihong, Yang, Huinan, Xia, Yanhui, Jin, Xiaolong, Li, Shuting, Jiang, Yaoyao, Xu, Mingshan, Wang
Publikováno v:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 39(7)
To explore the genetic basis for a patient with factor VIII deficiency.All exons of the F13A1 and F13B genes were amplified by PCR and sequenced directly. The sequencing was performed with a reverse primer if a variant was found. Conservation of vari
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::9449247301a3f264a6ba60f2e46eb9e6
https://pubmed.ncbi.nlm.nih.gov/35810426
https://pubmed.ncbi.nlm.nih.gov/35810426
Autor:
Shuting, Jiang, Huanhuan, Wang, Meina, Liu, Lihong, Yang, Yanhui, Jin, Haixiao, Xie, Qiyu, Xu, Mingshan, Wang
Publikováno v:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 39(7)
To explore the molecular pathogenesis of hereditary protein C (PC) deficiency due to a p.Gly86Asp variant of the PROC gene through in vitro expression experiment.Wild type and Gly86Asp mutant expression plasmids of PC were constructed and respectivel
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::478cc94892de554a19c1ad3648f01330
https://pubmed.ncbi.nlm.nih.gov/35810421
https://pubmed.ncbi.nlm.nih.gov/35810421
Autor:
Minhua, Wei, Guirong, Li, Haixiao, Xie, Wenjun, Yang, Haoran, Xu, Shibao, Han, Junzhe, Wang, Yan, Meng, Qingyang, Xu, Yanjun, Li, Ning, Chen, Chenglin, Zhang
Publikováno v:
Bioresource Technology. 354:127196
4-Hydroxyisoleucine is a promising drug for diabetes therapy; however, microbial production of 4-hydroxyisoleucine is not economically efficient because of the carbon loss in the form of CO
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb8ffc4512977c9b5df666e266d5500c
https://doi.org/10.1016/j.biortech.2022.127196
https://doi.org/10.1016/j.biortech.2022.127196
Autor:
Meina, Liu, Yanhui, Jin, Lihong, Yang, Haixiao, Xie, Xiaolong, Li, Siqi, Liu, Shasha, Luo, Mingshan, Wang
Publikováno v:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 37(6)
To explore the molecular basis for a Chinese pedigree affected with hereditary coagulation factor VII (FVII) deficiency.The coding regions of F7 gene were amplified by PCR and sequenced. Suspected variants were confirmed by reverse sequencing and val
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::1b34e871103a97bf365599702c505031
https://pubmed.ncbi.nlm.nih.gov/32472540
https://pubmed.ncbi.nlm.nih.gov/32472540
Autor:
Haixiao, Xie, Haiyue, Zhang, Mengjie, Xu, Anqing, Zou, Yanhui, Jin, Lihong, Yang, Jingye, Pan, Mingshan, Wang
Publikováno v:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 37(5)
To explore the molecular pathogenesis for a pedigree affected with hereditary coagulation factor XII (FXII) deficiency.Potential variant of the F12 gene was analyzed by PCR and Sanger sequencing. Expression plasmids were constructed by site-directed
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::0b9b27da942cce164c89a6bab5072593
https://pubmed.ncbi.nlm.nih.gov/32335876
https://pubmed.ncbi.nlm.nih.gov/32335876