マツモト　エツコ   Matsumoto Etsuko   松本　悦子    所属   医学部 医学科（東京女子医科大学病院）    職種   教授・基幹分野長
論文種別	原著
言語種別	英語
査読の有無	査読あり
表題	Multifaceted analysis of Japanese cases of primary ciliary dyskinesia: Value of immunofluorescence for ciliary protein detection in patients with DNAH5 and DNAH11 mutations.
掲載誌名	正式名：Respiratory investigation 略　 称：Respir Investig ISSNコード：22125353/22125345
掲載区分	国外
巻・号・頁	59(4),pp.550-554
著者・共著者	Kurokawa Atsushi†, Kondo Mitsuko, Orimo Mami, Honda Nahoko, Miyoshi Azusa, Akaba Tomohiro, Tsuji Mayoko, Nakatani Kaname, Ikejiri Makoto, Yagi Osamitsu, Takeyama Kiyoshi, Takeuchi Kazuhiko, Tagaya Etsuko
発行年月	2021/07
概要	Multifaceted analysis is recommended for the diagnosis of primary ciliary dyskinesia (PCD). A 31-year-old woman had situs inversus, bronchiectasis, family history of PCD, and compound heterozygous mutations in DNAH5. Her cilia were immotile. Defects in the outer dynein arms were revealed by transmission electron microscopy and loss of DNAH5 proteins in the entire length of axonemes using immunofluorescence (IF). A 17-year-old boy had bronchiectasis and heterozygous mutations in DNAH11. His cilia were motile with normal ultrastructure. The loss of DNAH11 proteins at the proximal region of cilia was revealed by IF. IF could be useful to support PCD diagnosis.
DOI	10.1016/j.resinv.2021.01.001
PMID	33589394