Jun-Xiu Zhang
5 Papers
6 Citations
Jun-Xiu Zhang is an academic researcher. The author has contributed to research in topics: Compound heterozygosity & Congenital hypothyroidism. The author has an hindex of 1, co-authored 5 publications.
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Papers
The genetic characteristics of congenital hypothyroidism in China by comprehensive screening of 21 candidate genes.
Feng Sun,Jun-Xiu Zhang,Chang-Yi Yang,Guan-Qi Gao,Wen-Bin Zhu,Bing Han,Lele Zhang,Yue-Yue Wan,Xiao-Ping Ye,Yu-Ru Ma,Man-Man Zhang,Liu Yang,Qian-Yue Zhang,Wei Liu,Cui-Cui Guo,gang Chen,Shuang-Xia Zhao,Ke-Yi Song,Huai-Dong Song +18 more
TL;DR: Most cases of congenital hypothyroidism in China were caused by thyroid dyshormonogenesis rather than thyroid dysgenesis, and DUOX2 was the most frequently mutated gene in these patients, which was significantly different from Western countries.
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Upregulation of GBP1 in thyroid primordium is required for developmental thyroid morphogenesis.
Ruimeng Yang,Ming Zhan,Qin-Yi Zhou,Xiao-Ping Ye,Feng-Yao Wu,Mei Dong,Feng Sun,Ya Fang,Rui-Jia Zhang,Chang-Run Zhang,Liu Yang,Miaomiao Guo,Jun-Xiu Zhang,Jun Liang,Feng Cheng,Wei Liu,Bing Han,Yi Zhou,Shuang-Xia Zhao,Huai-Dong Song +19 more
TL;DR: In this paper, four pathogenic GBP1 variations from three patients were identified and the functions of the identified variants were confirmed using thyroid epithelial cells in vitro and in zebrafish model organisms in vivo.
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Novel Compound Heterozygous Pathogenic Mutations of SLC5A5 in a Chinese Patient With Congenital Hypothyroidism.
Cao-Xu Zhang,Jun-Xiu Zhang,Liu Yang,Chang-Run Zhang,Feng Cheng,Rui-Jia Zhang,Ya Fang,Zheng Wang,Feng-Yao Wu,Pei-Zhang Li,Jun Liang,Rui Li,Huai-Dong Song +12 more
TL;DR: Wang et al. as discussed by the authors investigated the expression and cellular localization of the novel compound heterozygous mutation in SLC5A5, which resulted in a truncated NIS and reduced protein expression, respectively.
Molecular and clinical genetics of the transcription factor GLIS3 in Chinese congenital hypothyroidism.
Rui-Jia Zhang,Jun-Xiu Zhang,Wen-Hua Du,Feng Sun,Ya Fang,Cao-Xu Zhang,Zheng Wang,Feng-Yao Wu,Bing Han,Wei Liu,Shuang-Xia Zhao,Jun Liang,Huai-Dong Song +12 more
TL;DR: In this paper, the authors report the family history and molecular basis of patients with CH who carry GLIS3 variants and identify 20 heterozygous exonic missense variants, including eight novel sites, in 19 patients with hypothyroidism.
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The mutation screening in candidate genes related to thyroid dysgenesis by targeted next-generation sequencing panel in the Chinese congenital hypothyroidism
Rui-Jia Zhang,Guang-Lin Yang,Feng Cheng,Feng Sun,Ya Fang,Cao-Xu Zhang,Zheng Wang,Feng-Yao Wu,Jun-Xiu Zhang,Shuang-Xia Zhao,Jun Liang,Huai-Dong Song +11 more
TL;DR: Wang et al. as discussed by the authors used targeted exon sequencing in 205 Chinese patients whose CH cannot be explained by biallelic variants in genes related to thyroid dyshormonogenesis (DH), which is mostly inherited in an autosomal recessive inheritance pattern or thyroid dysgenesis.