Zobrazeno 1 - 10
of 58
pro vyhledávání: '"Ruixiao Zhang"'
Publikováno v:
Frontiers in Energy Research, Vol 12 (2024)
The exponential proliferation of renewable energy has resulted in a significant mismatch between power supply and demand, especially during extreme events. This incongruity presents challenges in efficiently harnessing renewable energy and enhancing
Externí odkaz:
https://doaj.org/article/6a1efd0d4fbf4bcdb807263d0a3163c3
Autor:
Fengjiao Pan, Ruixiao Zhang, Xuyan Liu, Xiaomeng Shi, Qing Xin, Dan Qiao, Changying Li, Yan Zhang, Mengke Chen, Wencong Guo, Shufang Luan, Leping Shao
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
Background: X-linked hypophosphatemia (XLH, OMIM 307800) is a rare phosphorus metabolism disorder caused by PHEX gene variants. Many variants simply classified as missense or nonsense variants were only analyzed at the DNA level. However, growing evi
Externí odkaz:
https://doaj.org/article/645763076f2b49b2a0327a68bc254522
Publikováno v:
Frontiers in Endocrinology, Vol 15 (2024)
ObjectiveThe objective of this study is to investigate the factors that influence the live birth rate (LBR) of the first single euploid frozen-thawed blastocyst transfer (FBT) cycles after preimplantation genetic testing for structural rearrangements
Externí odkaz:
https://doaj.org/article/1d75a3cc08734a50b98170cc640259ce
Autor:
Xuyan Liu, Xiaomeng Shi, Qing Xin, Zhiying Liu, Fengjiao Pan, Dan Qiao, Mengke Chen, Yiyin Zhang, Wencong Guo, Changying Li, Yan Zhang, Leping Shao, Ruixiao Zhang
Publikováno v:
BMC Genomics, Vol 24, Iss 1, Pp 1-12 (2023)
Abstract Background Autosomal dominant polycystic kidney disease (ADPKD) is a common monogenic multisystem disease caused primarily by mutations in the PKD1 gene or PKD2 gene. There is increasing evidence that some of these variants, which are descri
Externí odkaz:
https://doaj.org/article/f5715f55bb2b42f5894b66d609e557c4
Autor:
Xiaomeng Shi, Hong Wang, Ruixiao Zhang, Zhiying Liu, Wencong Guo, Sai Wang, Xuyan Liu, Yanhua Lang, Irene Bottillo, Bingzi Dong, Leping Shao
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 11, Iss 4, Pp n/a-n/a (2023)
Abstract Background Gitelman syndrome (GS) is a type of salt‐losing tubular disease, most of which is caused by SLC12A3 gene variants, and missense variants account for the majority. Recently, the phenomenon of exon skipping, in which variants disr
Externí odkaz:
https://doaj.org/article/7223d29c406d434eb9f28e0b160c6ccd
Publikováno v:
Energy Reports, Vol 7, Iss , Pp 5495-5509 (2021)
Accurate photovoltaic (PV) power forecasting is of great significance for safe and stable operation for PV power plant and reasonable dispatching of power grids, and it is also a fundamental technology to ensure the high ratio of PV power generation
Externí odkaz:
https://doaj.org/article/a3c61e31e4594b9193b531de960ee378
Publikováno v:
Clinical Case Reports, Vol 10, Iss 11, Pp n/a-n/a (2022)
Abstract We report a Chinese patient with JATD presenting a mild skeletal phenotype and with renal insufficiency as the initial symptom of the disease. A novel homozygous c.2789C>T (p.S930L) variant in the WDR60 gene was identified. Our report will h
Externí odkaz:
https://doaj.org/article/0a297ad00fa74983a2b8f4a0cea7eb55
Publikováno v:
BMC Medical Genomics, Vol 14, Iss 1, Pp 1-7 (2021)
Abstract Background Gitelman syndrome (GS) is an autosomal recessive tubulopathy caused by mutations of the SLC12A3 gene. It is characterized by hypokalemic metabolic alkalosis, hypomagnesemia and hypocalciuria. It is universally known that both hypo
Externí odkaz:
https://doaj.org/article/b34b7e63e8b243d496268f350d7c49dd
Autor:
Qing Xin, Qihua Liu, Zhiying Liu, Xiaomeng Shi, Xuyan Liu, Ruixiao Zhang, Yefeng Hong, Xiangzhong Zhao, Leping Shao
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Background: Bartter syndrome (BS) is a rare renal tubular disease caused by gene variants in SLC12A1, KCNJ1, CLCNKA, CLCNKB, BSND or MAGED2 genes. There is growing evidence that many exonic mutations can affect the pre-mRNA normal splicing and induce
Externí odkaz:
https://doaj.org/article/d2949f6a7e7041e9a2a5d76665599b03
Autor:
Ruixiao Zhang, Zeqing Chen, Yanhua Lang, Shihong Shao, Yan Cai, Qingqing You, Yan Sun, Sai Wang, Xiaomeng Shi, Zhiying Liu, Wencong Guo, Yue Han, Leping Shao
Publikováno v:
Renal Failure, Vol 42, Iss 1, Pp 958-965 (2020)
Background Fabry disease (FD) is an X-linked lysosomal storage disorder caused by the mutation of the GLA gene, encoding the α-galactosidase, which is responsible for the catabolism of neutral glycosphingolipids. Microalbuminuria or low-grade protei
Externí odkaz:
https://doaj.org/article/840047d4262445f3ba65f9c3fa94869d