Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Chao-Sheng Lu"'
Autor:
Rong-Yue Sun, Yue Xu, Qing-Qing Huang, Si-Si Hu, Hua-Zhi Xu, Yan-Zhao Luo, Ting Zhu, Jun-Hui Sun, Yu-Jing Gong, Mian-Mian Zhu, Hong-Wei Wang, Jing-Ye Pan, Chao-Sheng Lu, Dan Wang
Publikováno v:
BMC Medical Genomics, Vol 17, Iss 1, Pp 1-11 (2024)
Abstract Background Genetic variants in COL4A2 are less common than those of COL4A1 and their fetal clinical phenotype has not been well described to date. We present a fetus from China with an intronic variant in COL4A2 associated with a prenatal di
Externí odkaz:
https://doaj.org/article/c4abd43693c04e8c93bdd88b4df5e015
Autor:
Luca Valenti, Ming-Hua Zheng, Ting Zhu, Rong-Yue Sun, Mian-Mian Zhu, Ji-an Sun, Hong-Wei Wang, Chen-Yu Wu, Yu-Jing Gong, Chao-Sheng Lu, Luisa Ronzoni
Publikováno v:
eGastroenterology, Vol 2, Iss 1 (2024)
Background Dubin-Johnson syndrome (DJS), a rare autosomal recessive liver condition, is caused by biallelic loss-of-function mutations of the ABCC2 gene. This study aimed to investigate genetic variations in the drug efflux transporter ABCC2 (MRP2) g
Externí odkaz:
https://doaj.org/article/ea7c654919aa4da397c41a87b410cf0b
Autor:
Hua-Chun Weng, Xin-Yu Lu, Yu-Peng Xu, Yi-Hong Wang, Dan Wang, Yi-Ling Feng, Zhang Chi, Xiao-Qing Yan, Chao-Sheng Lu, Hong-Wei Wang
Publikováno v:
Molecular Medicine, Vol 27, Iss 1, Pp 1-18 (2021)
Abstract Background Patients with salt-sensitive hypertension are often accompanied with severe renal damage and accelerate to end-stage renal disease, which currently lacks effective treatment. Fibroblast growth factor 21 (FGF21) has been shown to s
Externí odkaz:
https://doaj.org/article/42f916f3a833486b840d8b7c6447bf5d
Autor:
Yi‐ming Chen, Wei Chen, Yue Xu, Chao‐sheng Lu, Mian‐mian Zhu, Rong‐yue Sun, Yihong Wang, Yuan Chen, Jiaming Shi, Dan Wang
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 10, Iss 9, Pp n/a-n/a (2022)
Abstract Background Succinate‐CoA ligase/synthetase (SCS) deficiency is responsible for encephalomyopathy with mitochondrial DNA depletion and mild methylmalonic aciduria. Variants in SUCLG1, the nuclear gene encoding the alpha subunit of the SCS e
Externí odkaz:
https://doaj.org/article/5c46ad19e3ca4d9894bc80efdd6216bc