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

Genes Dis. 2021 Dec 8;9(5):1174-1177. doi: 10.1016/j.gendis.2021.11.010. eCollection 2022 Sep.

Lele Kuang^{1

2}, Yuchao Jiang³, Shuxia Chen³, Ke Su³, Rui Peng^{1

4}, Xueyan Yang³, Hongyan Wang^{1

4}

¹ Obstetrics and Gynecology Hospital, NHC Key Laboratory of Reproduction Regulation (Shanghai Institute of Planned Parenthood Research), Children's Hospital, Fudan University, Shanghai 200011, PR China.
² Department of Assisted Reproduction, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai 200092, PR China.
³ The MOE Key Laboratory of Contemporary Anthropology, Department of Anthropology and Human Genetics, School of Life Sciences, Fudan University, Shanghai 200438, PR China.
⁴ Shanghai Key Laboratory of Female Reproductive Endocrine Related Diseases, Institute of Metabolism and Integrative Biology, Institute of Reproduction and Development, Institutes of Biomedical Sciences, Fudan University, Shanghai 200090, PR China.

No abstract available