HOXB6 down-regulation induced by retinoic acid pathway repression leads to chondrocyte proliferation inhibition and apoptosis in microtia  

作　　者：Run Yang Xin Chen Siyi Wu Chenlong Li Ying Chen Yaoyao Fu Aijuan He Duan Ma Jing Ma Tianyu Zhang 

机构地区：[1]ENT Institute,Department of Facial Plastic and Reconstructive Surgery,Eye&ENT Hospital,Fudan University,Shanghai 200031,China [2]Key Laboratory of Metabolism and Molecular Medicine,Ministry of Education,Department of Biochemistry and Molecular Biology,School of Basic Medical Sciences,Fudan University,Shanghai 200032,China [3]NHC Key Laboratory of Hearing Medicine(Fudan University),Shanghai 200031,China

出　　处：《Genes & Diseases》2025年第3期23-26,共4页基因与疾病(英文)

基　　金：supported by the National Natural Science Foundation of China(No.82271889,82371173);the National Key Research and Development Program of China(No.2021YFC2701000);the Natural Science Foundation Project of Shanghai Science and Technology Innovation Action Plan(China)(No.23ZR1409400);Shanghai Science and Technology Commission of China(No.21DZ2200700).

摘　　要：Microtia,a congenital malformation affecting the external and middle ear,arises from disruptions during the development of embryonic branchial arches and cranial neural crest cells(CNCCs),making it the second most prevalent maxillofacial birth defect and a leading cause of conductive hearing loss.1 Aberrant gene expression is pivotal in microtia pathogenesis by influencing chondrocyte activities.Homeobox(HOX)genes stand out as regulators for proper skeletal patterning,and mutations within the HOX family have been implicated in microtia.2 Our transcriptomic microarray analysis of microtia revealed a substantial reduction in HOXB6 expression in auricle cartilage.

关 键 词：aberrant gene expression skeletal patterningand congenital malformation maxillofacial birth defect hoxb conductive hearing loss retinoic acid pathway embryonic branchial arches 

分 类 号：R764.9[医药卫生—耳鼻咽喉科]