Broadening the ARMC2 mutational phenotype: linking multiple morphological abnormalities of the Flagella to Pulmonary Manifestations in Primary Ciliary Dyskinesia
Overall, this study significantly expanded the mutational phenotype of ARMC2, marking the first discovery of PCD-related pulmonary phenotypes outside of the reproductive system. This work establishes the association between ARMC2 and typical PCD and lays the groundwork for further investigation into the molecular mechanisms of ARMC2 in both flagellogenesis and ciliogenesis.
Authors
- Mingrong Lv (ORCID: https://orcid.org/0000-0001-8817-7350)
- Kuokuo Li (ORCID: https://orcid.org/0000-0001-9422-677X)
- Hui Yu (ORCID: https://orcid.org/0000-0003-0074-9153)
- Yunxia Cao (ORCID: https://orcid.org/0009-0002-5389-1591)
- Ping‐Kun Zhou (ORCID: https://orcid.org/0000-0001-7666-1209)
- Xiaojin He (ORCID: https://orcid.org/0000-0001-5919-8478)
- Jiajun Fang
- Huan Wu (ORCID: https://orcid.org/0000-0002-0009-3839)
- Zhaolian Wei (ORCID: https://orcid.org/0000-0001-8474-7272)
- Meng Gu
- Zongliu Duan
- Wenhao Zhang (ORCID: https://orcid.org/0000-0002-3739-0415)
- Kai Wang (ORCID: https://orcid.org/0000-0002-4145-9569)
- Yuping Xu
- Dongdong Tang (ORCID: https://orcid.org/0000-0002-9966-3642)
- Hao Geng (ORCID: https://orcid.org/0000-0001-9251-5762)
- Rong Hua (ORCID: https://orcid.org/0000-0003-2477-3764)
- Qunshan Shen (ORCID: https://orcid.org/0000-0002-3237-0829)
- Chuan Xu (ORCID: https://orcid.org/0000-0002-6158-8157)
- Baoyan Wu
- Yuying Sheng
- Lewen Ruan
- Qing Tan
Institutions
- Ministry of Education of the People's Republic of China (CN)
- Anhui University (CN)
- Shanghai Jiao Tong University (CN)
- Anhui Medical University (CN)
- Shanghai First People's Hospital (CN)
- First Affiliated Hospital of Anhui Medical University (CN)
Publication Details
- Journal
- Reproductive Biology and Endocrinology
- Published
- 2025-03-29
- DOI
- https://doi.org/10.1186/s12958-025-01385-0
- Citations
- 2
- Primary Topic
- Neonatal Respiratory Health Research
- Type
- article
- Field-Weighted Citation Impact
- 3.04
Funders
- National Natural Science Foundation of China