Zobrazeno 1 - 10
of 106
pro vyhledávání: '"Ying-Xia Cui"'
Autor:
Wei-qing Wu, Jia-xun Zhang, Ying-xia Cui, Ming-chao Zhang, Xiao-hang Chen, Shan Duan, Cai-hong Zeng, Pei-ning Li, Xiao-jun Li
Publikováno v:
Frontiers in Medicine, Vol 10 (2023)
Alport syndrome (AS) is an inherited glomerular basement membrane (GBM) disease leading to end-stage renal disease (ESRD). X-linked AS (XLAS) is caused by pathogenic variants in the COL4A5 gene. Many pathogenic variants causing AS have been detected,
Externí odkaz:
https://doaj.org/article/7d4874717e404963a51f6fb0b9addc75
Autor:
Jian-Hong Liu, Xiu-Xiu Wei, Ang Li, Ying-Xia Cui, Xin-Yi Xia, Wei-Song Qin, Ming-Chao Zhang, Er-Zhi Gao, Jun Sun, Chun-Lin Gao, Feng-Xia Liu, Qiu-Yue Wu, Wei-Wei Li, Asan, Zhi-Hong Liu, Xiao-Jun Li
Publikováno v:
PLoS ONE, Vol 12, Iss 5, p e0177685 (2017)
Alport syndrome (AS) is a clinically and genetically heterogeneous, progressive nephropathy caused by mutations in COL4A3, COL4A4, and COL4A5, which encode type IV collagen. The large sizes of these genes and the absence of mutation hot spots have co
Externí odkaz:
https://doaj.org/article/5d8fd1cbfd01476ca700cca2280e75f4
Autor:
Na Li, Jian Yu, Xiang Cao, Qiu-Yue Wu, Wei-Wei Li, Tian-Fu Li, Cui Zhang, Ying-Xia Cui, Xiao-Jun Li, Zhi-Min Yin, Xin-Yi Xia
Publikováno v:
PLoS ONE, Vol 9, Iss 6, p e100505 (2014)
OBJECTIVE: Mutations in the type II collagen gene are associated with certain human disorders, collectively termed type II collagenopathies. They include Legg-Calvé-Perthes disease (LCPD) and avascular necrosis of the femoral head (ANFH). These two
Externí odkaz:
https://doaj.org/article/9aad098b8720415cacc0d284177eb348
Autor:
Ying-Xia Cui, Xin-Yi Xia, Yang Zhou, Lin Gao, Xue-Jun Shang, Tong Ni, Wei-Ping Wang, Xiao-Buo Fan, Hong-Lin Yin, Shao-Jun Jiang, Bing Yao, Yu-An Hu, Gang Wang, Xiao-Jun Li
Publikováno v:
PLoS ONE, Vol 8, Iss 11, p e79808 (2013)
Dyschromatosis universalis hereditaria (DUH) is a rare heterogeneous pigmentary genodermatosis, which was first described in 1933. The genetic cause has recently been discovered by the discovery of mutations in ABCB6. Here we investigated a Chinese f
Externí odkaz:
https://doaj.org/article/83c4e3e9c5d24a77b836b2715c80cf36
Autor:
Xiao-Jun Li, Bai‐zeng Yu, Wei-Qing Wu, Ying-Xia Cui, Liu-Fei Miao, Fangfang Chen, Jia-Xun Zhang, Xing Lv, Zheng-Kun Xia, Zhi-Hong Liu
Publikováno v:
Cytogenetic and Genome Research. 160:238-244
X-linked Alport syndrome (XLAS) is a common hereditary nephropathy caused by COL4A5 gene mutations. To date, many splice site mutations have been described but few have been functionally analyzed to verify the exact splicing effects that contribute t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::819faf6554406f630c6b258772989c67
https://doi.org/10.1159/000508562
https://doi.org/10.1159/000508562
Publikováno v:
Nephrology. 24:504-510
Aim Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary renal disease in humans and is caused by mutations in the PKD1 or PKD2 gene. ADPKD is heterogeneous with regard to locus and allele heterogeneity and phenotypic va
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::81d23c845605928514264673908f4977
https://doi.org/10.1111/nep.13270
https://doi.org/10.1111/nep.13270
Autor:
Ying-Xia Cui, Xin-Yi Xia, Xiao-Jun Li, Er-Zhi Gao, Xiu-Xiu Wei, Ang Li, Xing Lv, Zheng-Kun Xia, Zhi-Hong Liu, Chun-Lin Gao, Jian-Hong Liu, Feng-Xia Liu, Asan
Publikováno v:
Cytogenetic and Genome Research. 154:30-36
Thin basement membrane nephropathy (TBMN), autosomal dominant Alport syndrome (ADAS), and focal segmental glomerulosclerosis (FSGS) are kidney diseases that differ in clinical diagnosis, treatment, and prognosis. Nevertheless, they may result from th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d06b584dbd46e4f5909deac556e342b1
https://doi.org/10.1159/000486979
https://doi.org/10.1159/000486979
Autor:
Zhi-Hong Liu, Ying-Xia Cui, Jian-Hong Liu, Asan, Xing Lv, Er-Zhi Gao, Ang Li, Feng-Xia Liu, Xiu-Xiu Wei, Chun-Lin Gao, Zheng-Kun Xia, Xin-Yi Xia, Xiao-Jun Li
Publikováno v:
Cytogenetic and Genome Research. 154:132-136
Mutations in the COL4A5 gene result in X-linked Alport syndrome, homozygous or compound heterozygous mutations in COL4A3 or COL4A4 are responsible for autosomal recessive Alport syndrome, and heterozygous mutations in COL4A3 or COL4A4 cause autosomal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cadacf7bbaa797a42424d38e0bb5c779
https://doi.org/10.1159/000488163
https://doi.org/10.1159/000488163
Autor:
Mao-Mao Yu, Ying-Xia Cui, Shuaimei Liu, Mengxia Ni, Weijun Jiang, Jin Cao, Yi Li, Xin-Yi Xia, Jing Zhang, Wei-Wei Li, Peiran Zhu, Qiu-Yue Wu
Publikováno v:
Oncotarget
// Weijun Jiang 1 , Peiran Zhu 1 , Jing Zhang 1 , Qiuyue Wu 1 , Weiwei Li 1 , Shuaimei Liu 1 , Mengxia Ni 1 , Maomao Yu 1 , Jin Cao 1 , Yi Li 1 , Yingxia Cui 1 and Xinyi Xia 1 1 Department of Reproduction and Genetics, Institute of Laboratory Medicin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::660fb11915f815355b92b05f7ff30006
https://doi.org/10.18632/oncotarget.18660
https://doi.org/10.18632/oncotarget.18660
Autor:
Xing, Lv, Wei-Qing, Wu, Jia-Xun, Zhang, Liu-Fei, Miao, Bai-Zeng, Yu, Fang-Fang, Chen, Ying-Xia, Cui, Zheng-Kun, Xia, Zhi-Hong, Liu, Xiao-Jun, Li
Publikováno v:
Cytogenetic and genome research. 160(5)
X-linked Alport syndrome (XLAS) is a common hereditary nephropathy caused by COL4A5 gene mutations. To date, many splice site mutations have been described but few have been functionally analyzed to verify the exact splicing effects that contribute t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::2ec9ccc9679989f6e3932440e8fe93cc
https://pubmed.ncbi.nlm.nih.gov/32659759
https://pubmed.ncbi.nlm.nih.gov/32659759