Our research interests and goals lie in elucidating the genetic bases and pathogenic mechanisms of birth defects, mainly focusing on: inherited kidney diseases (IKDs), neurodevelopmental disorders (NDDs) associated with IKDs and craniofacial malformations.

Birth defects, also called congenital anomalies, are structural, functional, or metabolic disorders during the development of the embryo or fetus. Birth defects are the most lethal childhood disease and represent a significant clinical and public health challenge. With an estimated incidence of 6%, birth defects affect 900,000 and 8,000,000 newborns annually in China and worldwide, respectively.

Gene-environment interactions shape the nature of most birth defects, but it is now clear that genetic factors play a major role in birth defects etiology, either as a primary cause or as a modifier to environmental exposures. Unfortunately, the genetic causes of birth defects are currently mostly unknown. Hence, there is a pressing need to identify the genetic etiologies and pathogenic mechanisms of birth defects and develop prevention and treatment strategies.

Our approach is novel gene variants discovery in pediatric patients coupled with pathogenic mechanisms discovery in animal models. First, we perform proband-WES (whole exome sequencing) or trio-WES on patients recruited by our collaborating clinicians to uncover novel gene variants. Variants of uncharacterized genes and of genes known to be vital in embryonic development are preferentially selected. Then we study the functional effects of the uncharacterized genes and gene variants on molecular, cellular and physiological processes in both cultured cells and animal models, including Xenopus/zebrafish and mouse. Finally, pathogenic mechanisms are unveiled and birth defects causality is assigned to the genes and associated variants.

Students with biological and medical backgrounds are welcome to join our lab.

Publications:

（1）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. Proc Natl Acad Sci U S A (2021) 118(20):e2100342118. (# co-first author；*co-corresponding author；IF=11.2)

（2）Eric A. Sosa^#, Yuki Moriyama^#, Yi Ding, Nydia Tejeda-Muñoz, Gabriele Colozza and Edward M. De Robertis*, Transcriptome analysis of regeneration during Xenopus laevis experimental twinning. Int J Dev Biol (2019) 63, 301-309.(# co-first author；*co-corresponding author；IF=1.8)

（3）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. Proc Natl Acad Sci U S A (2018) 115, E9135-E9144. (# co-first author；*co-corresponding author；IF=11.2)

（4）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. Proc Natl Acad Sci U S A (2017) 114, E3081-E3090. (# co-first author；*co-corresponding author；IF=11.2)

（5）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. Dev Biol  (2017) 426, 176-187. (# co-first author；*co-corresponding author；IF=3.5)

（6）Yongsheng Huang, Peng Wang, Hua Chen, Yi Ding, Ye-Guang Chen*, Myc-interacting zinc-finger protein 1 positively regulates Wnt signalling by protecting Dishevelled from Dapper1-mediated degradation. Biochem J (2015) 466, 499-509.

(# co-first author；*co-corresponding author；IF=3.8)

（7）Yan Zhang^#, Yi Ding^#, Ye-Guang Chen*, Qinghua Tao*, NEDD4L regulates convergent extension movements in Xenopus embryos via Disheveled-mediated non-canonical Wnt signaling. Dev Biol (2014) 392, 15-25. (# co-first author；*co-corresponding author；IF=3.5)

（8）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. J Biol Chem (2013) 288, 8289-8298. (# co-first author；*co-corresponding author；IF=5.1)

（9）Wei Zuo^#, Fei Huang^#, Y. Jeffrey Chiang, Meng Li, Jun Du, Yi Ding, Ting Zhang, Hyuk Woo Lee, Lak Shin Jeong, Yuling Chen, Haiteng Deng, Xin-Hua Feng, Shiwen Luo, Chunji Gao, Ye-Guang Chen*, c-Cbl-mediated neddylation antagonizes ubiquitination and degradation of the TGF-beta type II receptor. Mol Cell (2013) 49, 499-510. (# co-first author；*co-corresponding author；IF=17.9)

（10）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. Hum Mutat (2012) 33, 1450-1455. (# co-first author；*co-corresponding author；IF=4.8)