Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Fa-qiang Tang"'
Autor:
Yu-mian Gan, Yan-ping Zhang, Dan-dan Ruan, Jian-bin Huang, Yao-bin Zhu, Xin-fu Lin, Xiao-ping Xiao, Qiong Cheng, Zhen-bo Geng, Li-sheng Liao, Fa-qiang Tang, Jie-wei Luo
Publikováno v:
Cell Death and Disease, Vol 13, Iss 6, Pp 1-9 (2022)
Abstract X-linked hypophosphatemic rickets (XLH) is characterized by increased circulating fibroblast growth factor 23 (FGF23) concentration caused by PHEX (NM_000444.5) mutations. Renal tubular resorption of phosphate is impaired, resulting in ricke
Externí odkaz:
https://doaj.org/article/0ae6637eaaa247b48cc806435f97fd1b
Autor:
Ruo-li Wang, Dan-dan Ruan, Ya-nan Hu, Yu-mian Gan, Xin-fu Lin, Zhu-ting Fang, Li-sheng Liao, Fa-qiang Tang, Wu-bing He, Jie-wei Luo
Publikováno v:
Frontiers in Pediatrics, Vol 10 (2022)
BackgroundBruck syndrome (BS) is a rare autosomal recessive inherited osteogenesis imperfecta disease characterized by increased bone fragility and joint contracture. The pathogenic gene of type I BS is FKBPl0, whereas that of type II BS is PLOD2. No
Externí odkaz:
https://doaj.org/article/b8701ac6f4e6479abef5b44b8644a00e
Autor:
Zheng-Wei Xiao, Hui-ling Guo, Hong-chao Chen, Lai-peng Yan, Yi-lin Liao, Shu-lin Li, Li-lan Zhao, Ling-bo Su, Jun-jie Li, Fa-qiang Tang
Publikováno v:
Journal of Oncology. 2022:1-14
Background. Bone metastasis (BM) has been proven to be responsible for the poor prognosis of primary malignant bone neoplasms (PMBNs). We aimed to identify the prevalence, risk factors, and prognostic factors for PMBNs patients with BM based on the S
Autor:
Yao-Bin Zhu, Jian-Hui Zhang, Jie-Wei Luo, Dan-Dan Ruan, Xin-Fu Lin, Jia-Bin Wu, Fa-Qiang Tang, Ya-Nan Hu, Xiao Yang, Xing-Lin Ruan
Publikováno v:
BioMed Research International, Vol 2021 (2021)
BioMed Research International
BioMed Research International
Gitelman syndrome (GS) is an autosomal recessive inherited salt-losing renal tubular disease, which is caused by a pathogenic mutation of SLC12A3 encoding thiazide-sensitive Na-Cl cotransporter, which leads to disturbance of sodium and chlorine reabs
Autor:
Qing-Hua Yu, Jie-Wei Luo, Fa-Qiang Tang, Dan-Dan Ruan, Yao-Bin Zhu, Ning Lin, Yu-Mian Gan, Li-Sheng Liao, Xin Qian, Xiao Yang, Tao Lu
Publikováno v:
World Journal of Clinical Cases
BACKGROUND It is not easy to identify the cause of various iron overload diseases because the phenotypes overlap. Therefore, it is important to perform genetic testing to determine the genetic background of patients. AIM To investigate the genetic ba
Autor:
Yu-mian Gan, Yan-ping Zhang, Dan-dan Ruan, Jian-bin Huang, Yao-bin Zhu, Xin-fu Lin, Xiao-ping Xiao, Qiong Cheng, Zhen-bo Geng, Li-sheng Liao, Fa-qiang Tang, Jie-wei Luo
Publikováno v:
Cell deathdisease. 13(6)
X-linked hypophosphatemic rickets (XLH) is characterized by increased circulating fibroblast growth factor 23 (FGF23) concentration caused by PHEX (NM_000444.5) mutations. Renal tubular resorption of phosphate is impaired, resulting in rickets and im
Autor:
Zhu-Ting Fang, Jie-Wei Luo, Li-Sheng Liao, Fa-Qiang Tang, Yao-Bin Zhu, Xin-Fu Lin, Ya-Nan Hu, Dan-Dan Ruan, Yu-Mian Gan, Yan-Ping Zhang
Publikováno v:
The journal of gene medicineREFERENCES. 24(2)
BACKGROUND Hereditary Factor VII Deficiency (FVIID) is a rare congenital autosomal recessive bleeding disorder. In clinical manifestations, its onset is caused by variant of the F7 gene (NM_019616) with strong heterogeneity. We identified a family wi
Autor:
Yan-Ping Zhang, Xin-Fu Lin, Dan-Dan Ruan, Ying Chen, Fa-Qiang Tang, Xiu-Fen Zheng, Wen Wei, Jie-Wei Luo, Yu-Mian Gan, Yun-Fei Li
Publikováno v:
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology. 43(4)
Background The spectrum of neurological diseases related to ATP1A3 gene mutations is highly heterogeneous and exhibits different phenotypes. Phenotype overlaps, including alternating hemiplegia of childhood (AHC), early infantile epileptic encephalop