4 Papers
22 Citations
Ying Ru is an academic researcher from Shanghai Jiao Tong University. The author has contributed to research in topics: Exon & Internal medicine. The author has an hindex of 3, co-authored 4 publications.
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Papers
A splice site mutation combined with a novel missense mutation of LHCGR cause male pseudohermaphroditism.
Jie Qiao,Bing Han,Bing-Li Liu,Xia Chen,Ying Ru,Kaixiang Cheng,Fu-Guo Chen,Shuang-Xia Zhao,Jun Liang,Ying-Li Lu,Jinfeng Tang,Yi-Xin Wu,Wan-Ling Wu,Jia-Lun Chen,Ming-Dao Chen,Huai-Dong Song +15 more
TL;DR: The genotypic spectrum of LHCGR mutations is expanded, with relevant implications for the molecular analysis of this gene.
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Assessment of Molecular Subtypes in Thyrotoxic Periodic Paralysis and Graves Disease Among Chinese Han Adults: A Population-Based Genome-Wide Association Study.
Shuang-Xia Zhao,Wei Liu,Jun Liang,Guan-Qi Gao,Xiao-Mei Zhang,Yu Yao,Hai-Ning Wang,Fei-Fei Yuan,Li-Qiong Xue,Yu-Ru Ma,Lele Zhang,Xiao-Ping Ye,Qian-Yue Zhang,Feng Sun,Rui-Jia Zhang,Shao-Ying Yang,Ming Zhan,Wen-Hua Du,Bing-Li Liu,Xia Chen,Zhi-Yi Song,Xue-Song Li,Ping Li,Ying Ru,Chun-Lin Zuo,Sheng-Xian Li,Bing Han,Hui Zhu,Jie Qiao,Miao Xuan,Bin Su,Fei Sun,Jun-Hua Ma,Jia-Lun Chen,Haoming Tian,Sai-Juan Chen,Huai-Dong Song +36 more
- 03 May 2019
TL;DR: A complete genetic architecture will be helpful to understand the pathophysiology of TPP, and a useful prediction model could prevent the onset ofTPP, suggesting TPP as a molecular subtype of Graves disease.
Glucocorticoid up-regulates mimecan expression in corticotroph cells.
Qinyun Ma,Chun-Lin Zuo,Jun-Hua Ma,Xiao-Na Zhang,Ying Ru,Ping Li,Chun-Ming Pan,Zhi Liu,Huang-Ming Cao,Ming-Dao Chen,Huai-Dong Song +10 more
TL;DR: Northern and Western blot analyses revealed that mimecan expression and secretion in corticotroph cells were up-regulated by treating AtT-20 cells with glucocorticoid and that the up-regulation may be mediated by the classical GR pathways.
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[Clinical and molecular genetic analysis for 7 patients from 5 pedigrees with 17a-hydroxylase/17, 20 lyase deficiency].
Bing-li Liu,Qiao J,Xia Chen,Liang J,Chun-Lin Zuo,Yanyun Gu,Baohui Han,Gong J,Ying Ru,Lu Yl,Wu Wl,Chen,Huai-dong Song +12 more
TL;DR: The TAC329AA and D487_F489del of the CYP17A1 gene were the most frequent mutations in Chinese with 17OHD and there might be certain frequency of heterozygotes for D487-F489Del in Chinese population.
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