SEMA4D acts as a novel oligogenic pathogenic gene of idiopathic hypogonadotropic hypogonadism through thePlexinB1/MET/RND1/RHOA/RAF1/MAPK signaling axis

作     者：Daoqi Wang Yonghua Niu Jiahong Tan Jiaxin Wang Le Ling Yinwei Chen Jjianan Gong Hao Xu Qing Ling Jianhe Liu Jihong Liu Daoqi Wang;Yonghua Niu;Jiahong Tan;Jiaxin Wang;Le Ling;Yinwei Chen;Jianan Gong;Hao Xu;Qing Ling;Jianhe Liu;Jihong Liu

作者机构：Department of UrologyThe Second Affiliated Hospital of KunmingMedical UniversityKunmingYunnan 650033China Department of UrologyTongji HospitalTongji Medical CollegeHuazhong University of Science and TechnologyWuhanHubei 430030China Department of Pediatric SurgeryTongji HospitalTongji Medical CollegeWuhanHubei 430030China Department of Obstetrics and GynecologyThe First People's Hospital of Yunnan ProvinceKunmingYunnan 650034China Department of UrologyFirst Affiliated Hospital of Harbin Medical UniversityHarbinHeilongjiang 150007China 

出 版 物：《Genes & Diseases》 (基因与疾病（英文）)

年 卷 期：2023年第10卷第1期

页      面：65-68页

核心收录：

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

基　　金：The project was supported by the National Natural Science Foundation of China(No.81671443 to J.L.,No.81601270 to H.X.) Tongji Hospital Clinical Research Flash Ship Program(China)(No.2019CR109). 

主　　题：heterogeneity. clinical Idiopathic 

摘      要：Idiopathic hypogonadotropic hypogonadism(IHH)is a rare genetic disease with clinical and genetic heterogeneity.This study aimed to investigate a novel causal gene of IHH and a homozygous mutation(p.Ala515Val)in SEMA4D,and sought to determine the mechanism of SEMA4D promoting GnRH neurons migration.