Ren-Jie Cui
4 Papers
Ren-Jie Cui is an academic researcher. The author has contributed to research in topics: Gene & Notch signaling pathway. The author has co-authored 1 publications.
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Papers
Pathogenic variations in MAML2 and MAMLD1 contribute to congenital hypothyroidism due to dyshormonogenesis by regulating the Notch signalling pathway
Feng-Yao Wu,Ruimeng Yang,Hai Yang Zhang,Ming Zhan,Ping Tu,Cao-Xu Zhang,Mei Dong,Ren-Jie Cui,Xiao Yu Liu,Liu Yang,Chen-Yan Yan,Feng Sun,Zheng Wang,Jun Liang,Huai-Dong Song,Feng Cheng +15 more
TL;DR: In this article , the authors identified three mastermind-like family gene variants in CH and revealed that both canonical and non-canonical Notch signalling affected thyroid hormone biosynthesis, and these three variants blocked the expression of genes associated with thyroid thyroid biosynthesis.
4
Genetic screening and functional analysis of TPO variants in Chinese patients with congenital hypothyroidism.
Hai Yang Zhang,Xue-Song Li,Cao-Xu Zhang,Ping Tu,Ruimeng Yang,Xiao Yu Liu,Ren-Jie Cui,Liu Yang,Chen-Yang Wu,Rui-Jia Zhang,Ya Fang,Feng Sun,Jun Liang,Feng Cheng,Huai-Dong Song,Shuang-Xia Zhao +15 more
TL;DR: It is determined that a residual TPO enzyme activity threshold of 15% may serve as a criterion for differentiating CH severity, and relationships between TPO genotypes and clinical characteristics are established.
1
Contactin 6, A Novel Causative Gene for Congenital Hypothyroidism, Mediates Thyroid Hormone Biosynthesis through Notch Signaling.
Hai Yang Zhang,Feng-Yao Wu,Cao-Xu Zhang,Chen-Yang Wu,Ren-Jie Cui,Xiao Yu Liu,Liu Yang,Yue Zhang,Feng Sun,Feng Cheng,Ruimeng Yang,Huai-Dong Song,Shuang-Xia Zhao +12 more
TL;DR: This study demonstrated that CNTN6 is a novel causative gene for CH through the mediation of thyroid hormone biosynthesis via Notch signaling, which provides new insights into the genetic background and mechanisms involved in CH and thyroid dyshormonogenesis.
1
TSHR Variant Screening and Phenotype Analysis in 367 Chinese Patients With Congenital Hypothyroidism.
Hai Yang Zhang,Feng-Yao Wu,Xue-Song Li,Ping Tu,Cao-Xu Zhang,Ruimeng Yang,Ren-Jie Cui,Chen-Yang Wu,Ya Fang,Liu Yang,Huai-Dong Song,Shuang-Xia Zhao +11 more
TL;DR: This study identifies 17 TSHR variants, including 3 novel ones, in 45 Chinese CH patients, with 10 variants impairing Gs/cyclic AMP and Gq/11 signaling, and finds a high frequency of TSHR variants causing CH, particularly biallelic variants with mild clinical phenotypes.