Zobrazeno 1 - 10
of 33
pro vyhledávání: '"Yao Xiangping"'
Autor:
Yun-Lu Li, Hui-Zhen Su, Yao Xiangping, Lu-Lu Lai, Miao Zhao, Wan-Jin Chen, Yi-Heng Zeng, Bi-Wei Lin, Xin-Xin Guo
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Frontiers in Genetics
Frontiers in Genetics
Primary familial brain calcification (PFBC) is a progressive neurological disorder manifesting as bilateral brain calcifications in CT scan with symptoms as parkinsonism, dystonia, ataxia, psychiatric symptoms, etc. Recently, pathogenic variants in M
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ecf7d561ce2c3ee786bd1bcff3b64b1
https://www.frontiersin.org/articles/10.3389/fgene.2021.732389/full
https://www.frontiersin.org/articles/10.3389/fgene.2021.732389/full
Publikováno v:
Journal of molecular medicine (Berlin, Germany). 100(3)
Neurogenetic diseases are neurological conditions with a genetic cause (s). There are thousands of neurogenetic diseases, and most of them are incurable. The development of bioinformatics and elucidation of the mechanism of pathogenesis have allowed
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55146dab2c479957c3cbe694d90ead9b
https://pubmed.ncbi.nlm.nih.gov/34837498
https://pubmed.ncbi.nlm.nih.gov/34837498
Autor:
Xiao-Huan Zou, Dong-Ping Chen, Bing-Cong Hong, Yao-Bin Liu, Lu-Lu Lai, Xin-Xin Guo, Chang-Yun Liu, Ji-Dong Peng, Jing-Hui Lai, Hui-Zhen Su, Qing-Yang Yao, Hua-Song Lin, Yu-Ying Zhao, Xiao-Pei Lu, Hong-Xia Fu, Yao Xiangping, Dan-Qin Huang, Wan-Jin Chen, Pan Lin, Chong Wang, Yu-Chun Deng, Xiao-Qun Zhu, Hai-Liang Lin, Yan-Fang Niu, Xue-Jiao Chen, Yong-Kun Li, Ning Wang, Hai-Ting Chen, Gen-Bin Huang
Publikováno v:
Human Mutation. 40:392-403
Primary familial brain calcification (PFBC) is a rare neurodegenerative disorder with four causative genes (SLC20A2, PDGFRB, PDGFB, and XPR1) that have been identified. Here, we aim to describe the mutational spectrum of four causative genes in a ser
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fccdfb0beac5e5a9cbbc297b7be489ad
https://doi.org/10.1002/humu.23703
https://doi.org/10.1002/humu.23703
Autor:
Zhao, Chen1, Yao, Xiangping1, Chen, Xiaochang1, Wu, Wenjing1, Xi, Fengxue1, Yang, Gongshe1 gsyang999@hotmail.com, Yu, Taiyong1 yutaiyong310@nwsuaf.edu.cn
Publikováno v:
Cell Proliferation. Apr2018, Vol. 51 Issue 2, p1-1. 11p.
Akademický článek
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Akademický článek
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Autor:
Jing-Hui Lai, Yao-Bin Liu, Xin-Xin Guo, Chong Wang, Hai-Ting Chen, Hui-Zhen Su, Miao Zhao, Yao Xiangping, Wan-Jin Chen, En-Lin Dong, Ning Wang
Publikováno v:
Cell and Tissue Research. 370:267-273
Primary familial brain calcification (PFBC) is a neuropsychiatric disorder characterized by bilateral cerebral calcification with diverse neurologic or psychiatric symptoms. Recently, XPR1 variation has accounted for PFBC as another new causative gen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b3f200a8e67070f3cf6c962b79c45c08
https://doi.org/10.1007/s00441-017-2663-3
https://doi.org/10.1007/s00441-017-2663-3
Autor:
Jing-Hui Lai, Qi-Jie Zhang, Wan-Jin Chen, Yao Xiangping, Hui-Zhen Su, Hai-Ting Chen, Ning Wang, En-Lin Dong, Chong Wang, Xin-Xin Guo
Publikováno v:
Journal of Human Genetics. 62:697-701
Four causative genes, including solute carrier family 20 member 2 (SLC20A2), platelet-derived growth factor receptor b (PDGFRB), platelet-derived growth factor b (PDGFB)and xenotropic and polytropic retrovirus receptor 1 (XPR1), have been identified
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f7ba3da8cd85e2a3644f95d688f67912
https://doi.org/10.1038/jhg.2017.25
https://doi.org/10.1038/jhg.2017.25
Autor:
Hui-Zhen Su, Ying-Qian Lu, Yao Xiangping, Yao-Bin Liu, Xin-Xin Guo, Ning Wang, Hai-Ting Chen, Wan-Jin Chen, Miao Zhao, Chong Wang, Jing-Hui Lai
Publikováno v:
Gene. 597:17-22
Background Until recently, primary familial brain calcification (PFBC) has been determined by four genes, SLC20A2 , PDGFRB , PDGFB and XPR1 . No studies have been carried out to analyze the gene mutation of PDGFB in Chinese population. Objective To s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c87496dc7fa19ff71e6d578aa134e4f6
https://doi.org/10.1016/j.gene.2016.10.037
https://doi.org/10.1016/j.gene.2016.10.037
Akademický článek
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