Xia Chen
Nanjing Medical University
6 Papers
17 Citations
Xia Chen is an academic researcher from Nanjing Medical University. The author has contributed to research in topics: Exon & Leydig cell hypoplasia. The author has an hindex of 5, co-authored 6 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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Refined association of TSH receptor susceptibility locus to Graves' disease in the Chinese Han population
Bing-Li Liu,Shao-Ying Yang,Wei Liu,Li-Qiong Xue,Xia Chen,Chun-Ming Pan,Zhaohui Gu,Ming Zhan,Xiao-Mei Zhang,Jun Liang,Guan-Qi Gao,Wen-Hua Du,Guo-Yue Yuan,Ru Ying,Shuang-Xia Zhao,Huai-Dong Song +15 more
TL;DR: Findings indicate that rs12101261 and rs179243 are the possible causal SNPs for GD susceptibility in the TSHR gene and could serve as genetic markers to predict the outcome of pTRAb+ in GD patients.
[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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Functional study of an aberrant splicing variant of the human luteinizing hormone (LH) receptor.
Bing Han,Zhi-Quan Wang,Li-Qiong Xue,Jun-Hua Ma,Wei Liu,Bing-Li Liu,Jiajun Wu,Chun-Ming Pan,Xia Chen,Shuang-Xia Zhao,Ying-Li Lu,Wan-Ling Wu,Jie Qiao,Huai-Dong Song +13 more
TL;DR: Results indicated that LHR-Del7 does not have a dominant negative effect on L HR-WT cell surface expression, and although the pathological splicing variant LHR -Del7 was able to localize to cell membranes it failed to bind hCG and had no effect on wild-type LHR.
A novel intronic mutation and a missense mutation of MEN1 identified in two Chinese families with multiple endocrine neoplasia type 1
B. Han,Zhi-Yi Song,J. J. Wu,Wei Liu,Bing-Li Liu,Xiao-Ping Ye,Xia Chen,Chun-Ming Pan,H. Y. Xu,L. Li,H. Zhu,Yingli Lu,W. L. Wu,Ming-Dao Chen,Huai-Dong Song,Jie Qiao +15 more
TL;DR: A novel intronic mutation and a missense mutations in two Chinese families suffering from MEN1 are reported, where the global secondary structure as well as the number of stems and loops of pre-mRNA greatly changed after this mutation.
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