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

作     者：Lele Kuang Yuchao Jiang Shuxia Chen Ke Su Rui Peng Xueyan Yang Hongyan Wang 

作者机构：Obstetrics and Gynecology HospitalNHC Key Laboratory of Reproduction Regulation(Shanghai Institute of Planned Parenthood Research)Children's HospitalFudan UniversityShanghai 200011PR China Department of Assisted ReproductionXinhua HospitalSchool of MedicineShanghai Jiao Tong UniversityShanghai 200092PR China The MOE Key Laboratory of Contemporary AnthropologyDepartment of Anthropology and Human GeneticsSchool of Life SciencesFudan UniversityShanghai 200438PR China Shanghai Key Laboratory of Female Reproductive Endocrine Related DiseasesInstitute of Metabolism and Integrative BiologyInstitute of Reproduction and DevelopmentInstitutes of Biomedical SciencesFudan UniversityShanghai 200090PR China 

出 版 物：《Genes & Diseases》 (基因与疾病（英文）)

年 卷 期：2022年第9卷第5期

页      面：1174-1177页

核心收录：

学科分类：0710[理学-生物学] 1002[医学-临床医学] 100211[医学-妇产科学] 10[医学] 

基　　金：supported by National Key Research and Development Program,China(No.2016YFC1000502 to H.W.and X.Y.) the National Natural Science Foundation of China(No.81930036,31521003 and 31771669 to H.W.) the Basic Research Project of“Innovation Action Plan”from Shanghai Science and Technology Commission Shanghai Municipality,China(No.17JC1400902 to H.W.) 

主　　题：involvement neural attributed 

摘      要：To the Editor:Neural tube defects(NTDs)are among the most common human birth defects affecting about 1/1000 live births worldwide.1 The etiology of NTDs is attributed to complex genetic and environmental risk *** 200 genes have been identified to cause NTDs in animal models,suggesting the involvement of distinct molecular basis in NTD etiology,including the Sonic hedgehog(Shh)signaling.