杨雪艳｜复旦大学｜学者主页

2025

Phosphorylation of a conserved TBXT threonine residue is vital to vertebral development

Shuxia Chen, Chennan Liu, Ying Zhao, Lingbo Wang, Rui Peng, Lei Lü, Qian Yu, Yichen Jin, Jinsong Li, Xueyan Yang, Yunping Lei, Hongyan Wang

Science China Life Sciences

DOI

2023

A mutation in TBXT causes congenital vertebral malformations in humans and mice

Shuxia Chen, Yunping Lei, Yajun Yang, Chennan Liu, Lele Kuang, Jin Li, Richard H. Finnell, Xueyan Yang, Hongyan Wang

Journal of genetics and genomics/Journal of Genetics and Genomics

DOI

2022

Deleterious Rare Mutations of GLI1 Dysregulate Sonic Hedgehog Signaling in Human Congenital Heart Disease

Rui Peng, Binbin Li, Shuxia Chen, Zhiwen Shi, Li-Wei Yu, Yun‐Qian Gao, Xueyan Yang, Lei Lü, Hongyan Wang

Frontiers in Cardiovascular Medicine

DOI

2021

Rare variants in TULP3 abolish the suppressive effect on sonic hedgehog signaling and contribute to human neural tube defects

Lele Kuang, Yuchao Jiang, Shuxia Chen, Ke Su, Rui Peng, Xueyan Yang, Hongyan Wang

Genes & Diseases

DOI

2020

Cover, Volume 41, Issue 8

Jianhong Ye, Youli Tong, Jiashun Lv, Rui Peng, Shuxia Chen, Lele Kuang, Ke Su, Yufang Zheng, Ting Zhang, Feng Zhang, Jin Li, Xueyan Yang, Hongyan Wang

Human Mutation

DOI

2020

Rare mutations in the autophagy‐regulating gene AMBRA1 contribute to human neural tube defects

Jianhong Ye, Youli Tong, Jiashun Lv, Rui Peng, Shuxia Chen, Lele Kuang, Ke Su, Yufang Zheng, Ting Zhang, Feng Zhang, Jin Li, Xueyan Yang, Hongyan Wang

Human Mutation

DOI

2020

Genetic variants of TBX6 and TBXT identified in patients with congenital scoliosis in Southern China

Xin Feng, Jason Pui Yin Cheung, Jimmy S. H. Je, Prudence Wing Hang Cheung, Shuxia Chen, Ming Yue, Ni Wang, Vanessa N. T. Choi, Xueyan Yang, You‐Qiang Song, Keith D. K. Luk, Bo Gao

Journal of Orthopaedic Research®

DOI

2020

Association between rare variants in specific functional pathways and human neural tube defects multiple subphenotypes

Jizhen Zou, Fang Wang, Xueyan Yang, Hongyan Wang, Lee Ann Niswander, Ting Zhang, Huili Li

Neural Development

DOI

2019

Novel mutations of AXIN2 identified in a Chinese Congenital Heart Disease Cohort

Meng-Jiao Zhu, Xiaoyun Ma, Peicheng Ding, Hanfei Tang, Rui Peng, Lei Lü, Peiqiang Li, Bin Qiao, Xueyan Yang, Yufang Zheng, Hongyan Wang, Yun‐Qian Gao, Feng-Shan Chen

Journal of Human Genetics

DOI

2019

A functional indel polymorphism rs34396413 in TFAP2A intron-5 significantly increases female encephalocele risk in Han Chinese population

Ke Su, Shuxia Chen, Jianhong Ye, Lele Kuang, Ting Zhang, Hongyan Wang, Xueyan Yang

Child s Nervous System

DOI

2018

MIB1 mutations reduce Notch signaling activation and contribute to congenital heart disease

Binbin Li, Li-Wei Yu, Dong Liu, Xueyan Yang, Yufang Zheng, Yonghao Gui, Hongyan Wang

Clinical Science

DOI

2018

Decreased activity of RCAN1.4 is a potential risk factor for congenital heart disease in a Han Chinese population

Liangping Cheng, Peiqiang Li, He Wang, He Wang, Xueyan Yang, Huiming Zhou, Wufan Tao, Jie Tian, Hongyan Wang, Hongyan Wang

Protein & Cell

DOI

2018

Rare mutations in apoptosis related genes APAF1, CASP9, and CASP3 contribute to human neural tube defects

Xiangyu Zhou, Weijia Zeng, Huili Li, Haitao Chen, Gang Wei, Xueyan Yang, Ting Zhang, Hongyan Wang

Cell Death and Disease

DOI

2017

Novel Mutation of LRP6 Identified in Chinese Han Population Links Canonical WNT Signaling to Neural Tube Defects

Zhiwen Shi, Xueyan Yang, Binbin Li, Shuxia Chen, Luming Yang, Liangping Cheng, Ting Zhang, Hongyan Wang, Yufang Zheng

Birth Defects Research

DOI

2017

A TBX5 3′UTR variant increases the risk of congenital heart disease in the Han Chinese population

Feng Wang, Dong Liu, Ranran Zhang, Li-Wei Yu, Jian‐Yuan Zhao, Xueyan Yang, Songshan Jiang, Duan Ma, Bin Qiao, Feng Zhang, Jin Li, Yonghao Gui, Hongyan Wang

Cell Discovery

DOI

2016

Genetic analysis of rare coding mutations of CELSR1–3 in congenital heart and neural tube defects in Chinese people

Xiaojin Qiao, Yahui Liu, Peiqiang Li, Zhongzhong Chen, Huili Li, Xueyan Yang, Richard H. Finnell, Yang Zhang-min, Ting Zhang, Bin Qiao, Yufang Zheng, Hongyan Wang

Clinical Science

DOI

2016

Mild decrease in TBX20 promoter activity is a potentially protective factor against congenital heart defects in the Han Chinese population

Li-Wei Yu, Feng Wang, Xueyan Yang, Shuna Sun, Yufang Zheng, Binbin Li, Yonghao Gui, Hongyan Wang

Scientific Reports

DOI

2014

MiR-10a and MiR-10b Target the 3′-Untranslated Region of TBX5 to Repress Its Expression

Feng Wang, Xueyan Yang, Jian‐Yuan Zhao, Li-Wei Yu, Ping Zhang, Wenyuan Duan, Mei Chong, Yonghao Gui

Pediatric Cardiology

DOI

2013

Mutations in the COPII Vesicle Component GeneSEC24Bare Associated with Human Neural Tube Defects

Xueyan Yang, Xiangyu Zhou, Qing Qing Wang, Hong Li, Ying Chen, Yunping Lei, Xiaohang Ma, Pan Kong, Shi Lin Yan, Jin Li, Ting Zhang, Hongyan Wang

Human Mutation

DOI

2012

A functional variant in the cystathionine β-synthase gene promoter significantly reduces congenital heart disease susceptibility in a Han Chinese population

Jian‐Yuan Zhao, Xueyan Yang, Kai‐Hu Shi, Shuna Sun, Jia Woei Hou, Zhi-Zhou Ye, Jue Wang, Wenyuan Duan, Bin Qiao, Yijiang Chen, Hongbing Shen, Guo-Ying Huang, Jin Li, Hongyan Wang

Cell Research

DOI

2012

Genetic Polymorphisms of the TYMS Gene Are Not Associated with Congenital Cardiac Septal Defects in a Han Chinese Population

Jian‐Yuan Zhao, Jing-Wei Sun, Zhuoya Gu, Jue Wang, Erli Wang, Xueyan Yang, Bin Qiao, Wenyuan Duan, Guo-Ying Huang, Hongyan Wang

PLoS ONE

DOI

2011

Functional Variant in Methionine Synthase Reductase Intron-1 Significantly Increases the Risk of Congenital Heart Disease in the Han Chinese Population

Jian‐Yuan Zhao, Xueyan Yang, Xiaohong Gong, Zhuoya Gu, Wenyuan Duan, Jue Wang, Zhi-Zhou Ye, Hongbing Shen, Kai-hu Shi, Jia Woei Hou, Guo-Ying Huang, Jin Li, Bin Qiao, Hongyan Wang

Circulation

DOI

杨雪艳

精选作品

期刊论文

Phosphorylation of a conserved TBXT threonine residue is vital to vertebral development

A mutation in TBXT causes congenital vertebral malformations in humans and mice

Deleterious Rare Mutations of GLI1 Dysregulate Sonic Hedgehog Signaling in Human Congenital Heart Disease

Rare variants in TULP3 abolish the suppressive effect on sonic hedgehog signaling and contribute to human neural tube defects

Cover, Volume 41, Issue 8

Rare mutations in the autophagy‐regulating gene AMBRA1 contribute to human neural tube defects

Genetic variants of TBX6 and TBXT identified in patients with congenital scoliosis in Southern China

Association between rare variants in specific functional pathways and human neural tube defects multiple subphenotypes

Novel mutations of AXIN2 identified in a Chinese Congenital Heart Disease Cohort

A functional indel polymorphism rs34396413 in TFAP2A intron-5 significantly increases female encephalocele risk in Han Chinese population

MIB1 mutations reduce Notch signaling activation and contribute to congenital heart disease

Decreased activity of RCAN1.4 is a potential risk factor for congenital heart disease in a Han Chinese population

Rare mutations in apoptosis related genes APAF1, CASP9, and CASP3 contribute to human neural tube defects

Novel Mutation of LRP6 Identified in Chinese Han Population Links Canonical WNT Signaling to Neural Tube Defects

A TBX5 3′UTR variant increases the risk of congenital heart disease in the Han Chinese population

Genetic analysis of rare coding mutations of CELSR1–3 in congenital heart and neural tube defects in Chinese people

Mild decrease in TBX20 promoter activity is a potentially protective factor against congenital heart defects in the Han Chinese population

MiR-10a and MiR-10b Target the 3′-Untranslated Region of TBX5 to Repress Its Expression

Mutations in the COPII Vesicle Component GeneSEC24Bare Associated with Human Neural Tube Defects

A functional variant in the cystathionine β-synthase gene promoter significantly reduces congenital heart disease susceptibility in a Han Chinese population

Genetic Polymorphisms of the TYMS Gene Are Not Associated with Congenital Cardiac Septal Defects in a Han Chinese Population

Functional Variant in Methionine Synthase Reductase Intron-1 Significantly Increases the Risk of Congenital Heart Disease in the Han Chinese Population

会议论文

先天性心脏病(CHD)中MESP1稀有突变的功能分析

CNNM2基因和人类神经管畸形发生的相关性研究

研究方向