Ontology highlight
ABSTRACT:
INSTRUMENT(S):
ORGANISM(S): Homo Sapiens (human)
SUBMITTER:
Feng Yang
LAB HEAD: Shanshan Xie
PROVIDER: PXD064456 | Pride | 2026-04-06
REPOSITORIES: Pride

Huo Chunxiao C Luo Ting T Yang Shuo S Jiang Yuan Y Guo Mengzhe M Yang Feng F Xu Zhangqi Z Xia Junhua J Wu Lei L Xu Weize W Gui Miao M Zhou Tianhua T Xie Shanshan S
Cell discovery 20260331 1
Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disorder characterized by defective mucociliary clearance due to impaired motile cilia function. Outer dynein arm docking complex subunit 1 (ODAD1) encodes a structural component of the outer dynein arm docking complex (ODA-DC), which is crucial for effective ciliary beating. However, the full spectrum of ODAD1-associated pathogenesis remains incompletely defined. Here, we identified one novel homozygous loss-of-function ODAD1 varia ...[more]