我们实验室主要研究人出生缺陷的分子和遗传机制，包括先天性神经系统疾病（Congenital anomalies of nervous system; 如无脑畸形、露脑畸形、脑积水、神经管畸形和神经发育缺陷等）、身材矮小（Dwarfism）、遗传性肾病(Genetic kidney diseases)和颅颌面畸形（Craniofacial disorders）等几种重大疾病。我们的研究策略为：从医院收集病例──全外显子测序（WES）以鉴定致病基因──建立致病基因的斑马鱼和小鼠敲除/敲入模型──阐明致病基因导致疾病发生的分子机制。

  我们尤其关注新的分泌蛋白（潜在的生长因子或者激素）和跨膜蛋白（潜在的受体）编码基因的变异，因为它们是良好的潜在药物靶标。我们尤为感兴趣的是这些新的分泌蛋白和跨膜蛋白在一些关键信号通路（包括FGF信号通路、Insulin信号通路、WNT信号通路、HH信号通路和TGF-β信号通路等）中的功能，以及它们通过调控这些关键信号在疾病发生中的作用。

  欢迎具有生物学（发育生物学、细胞生物学、分子生物学、生物化学和生理学）和基础医学背景的研究生加入我们实验室。

Publications:

(1) Huaxiang Zhao#, Pan Wang#, Yuhua Jiao#, Huimei Huang#, Min Yu, Qing He, Wenbin Huang, Xuqin Liang, Yanzhen He, Yunfei Jia, Qianying Kong, Huifang Peng, Yuxia Hou, Zhanping Ren, Yongwei Tao, Fei Huang, Hongwei Jiang, Shan Sun, Jiuxiang Lin, Chunyan Yin*, Xuechen Zhu*, Feng Chen*, Yi Ding* KAG2 deficiency causes a developmental disorder with growth retardation and craniofacial malformations. Journal of Clinical Investigation (Under review) (#co-first author; *co-corresponding author)

(2) Xiaowen Zheng#, Xuqin Liang#, Xiantao Wu#, Qing He#, Chunyan Yin, Yuhua Jiao, Yanhao Wang, Yongwei Tao, Yanzhen He, Yunfei Jia, Linping Xu, Zhanping Ren, Yuxia Hou*, Yi Ding*, Huaxiang Zhao*. Rare variants in NRSN2 cause non-syndromic orofacial cleft through dysregulation of TGF-β signaling. Genes & Diseases (accepted). (#co-first author; *co-corresponding author)

(3) Qing He#, Min Yu#, Yuhua Jiao#, Yizhu Xu, Xuqin Liang, Wenbin Huang, Linping Xu, Yuxia Hou, Zhanping Ren, Beile Lyu, Zhenwei Qian, Pengpeng Liu, Jing Zhou, Huimei Huang*, Chunyan Yin*, Huaxiang Zhao*, Yi Ding*. Exome sequencing reveals the genetic architecture of non-syndromic orofacial clefts and identifies BOC as a novel causal gene. Advanced Science (2025): e12073. doi: 10.1002/advs.202412073. (#co-first author; *co-corresponding author)

(4) Huaxiang Zhao#, Qing He#, Xiantao Wu, Xuqin Liang, Yuhua Jiao, Yue Zhang, Shanying Bao, Linping Xu, Yuxia Hou*, Xuechen Zhu*, Yi Ding*. Identification of rare loss-of-function variants in FAM3B associated with non-syndromic orofacial clefts. Genomics (2023) 115(3):110630. (#co-first author; *co-corresponding author)

(5) Qing He, Xingke Hao, Shanying Bao, Xiantao Wu, Linping Xu, Yuxia Hou, Yingjia Huang, Leiyuan Peng, Huimei Huang*, Yi Ding*, Huaxiang Zhao*. A392V and R945X mutations cause orofacial clefts via impairing PTCH1 function. Genomics. (2022) 114(6):110507. (*co-corresponding author)

(6) Fangfang Zhang#, Xuechen Zhu#, Pan Wang#, Qing He, Huimei Huang, Tianrui Zheng, Yongyu Li, Hong Jia, Linping Xu, Huaxiang Zhao, Gabriele Colozza, Qinghua Tao*, Edward M De Robertis*, and Yi Ding*, The cytokine FAM3B/PANDER is an FGFR ligand that promotes posterior development in Xenopus. PNAS (2021) 118(20):e2100342118. (#co-first author; *co-corresponding author)

(7) Yi Ding#, Gabriele Colozza#, Eric A. Sosa#, Yuki Moriyama, Samantha Rundle, Lukasz Salwinski, and Edward M. De Robertis*, Bighead is a Wnt antagonist secreted by the Xenopus Spemann organizer that promotes Lrp6 endocytosis. PNAS (2018) 115, E9135-E9144. (#co-first author; *corresponding author)

(8) Yi Ding#, Diego Ploper#, Eric A. Sosa, Gabriele Colozza, Yuki Moriyama, Maria D. J. Benitez, Kelvin Zhang, Daria Merkurjev, and Edward M. De Robertis*, Spemann organizer transcriptome induction by early beta-catenin, Wnt, Nodal, and Siamois signals in Xenopus laevis. PNAS (2017) 114, E3081-E3090. (#co-first author; *corresponding author)

(9) Yi Ding#, Gabriele Colozza#, Kelvin Zhang, Yuki Moriyama, Diego Ploper, Eric A. Sosa, Maria D. J. Benitez, and Edward M. De Robertis*, Genome-wide analysis of dorsal and ventral transcriptomes of the Xenopus laevis gastrula. Developmental Biology  (2017) 426, 176-187. (#co-first author; *corresponding author)

(10) Yan Zhang#, Yi Ding#, Ye-Guang Chen*, Qinghua Tao*, NEDD4L regulates convergent extension movements in Xenopus embryos via Disheveled-mediated non-canonical Wnt signaling. Developmental Biology (2014) 392, 15-25. (#co-first author; *corresponding author)

(11) Yi Ding#，Yan Zhang#, Chao Xu, Qinghua Tao*, Ye-Guang Chen*, HECT domain-containing E3 ubiquitin ligase NEDD4L negatively regulates Wnt signaling by targeting dishevelled for proteasomal degradation. Journal of Biological Chemistry (2013) 288, 8289-8298. (# co-first author; *co-corresponding author)

(12) Yan Shi#, Yi Ding#, Yun‐Ping Lei#, Xue‐Yan Yang, Guo‐Ming Xie, Jun Wen,   Chun‐Quan Cai, Hong Li, Ying Chen, Ting Zhang, Bai‐Lin Wu, Li Jin, Ye‐Guang Chen*, Hong‐Yan Wang*, Identification of novel rare mutations of DACT1 in human neural tube defects. Human Mutation (2012) 33, 1450-1455. (#co-first author; *co-corresponding author)