Multifaceted analysis of Japanese cases of primary ciliary dyskinesia: Value of immunofluorescence for ciliary protein detection in patients with DNAH5 and DNAH11 mutations期刊界 All Journals 搜尽天下杂志传播学术成果专业期刊搜索期刊信息化学术搜索

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Multifaceted analysis of Japanese cases of primary ciliary dyskinesia: Value of immunofluorescence for ciliary protein detection in patients with DNAH5 and DNAH11 mutations

Authors:	Atsushi Kurokawa Mitsuko Kondo Mami Orimo Nahoko Honda Azusa Miyoshi Tomohiro Akaba Mayoko Tsuji Kaname Nakatani Makoto Ikejiri Osamitsu Yagi Kiyoshi Takeyama Kazuhiko Takeuchi Etsuko Tagaya

Institution:	1. Department of Respiratory Medicine, Tokyo Women''s Medical University, 8-1 Kawada-cho, Shinjuku-ku, Tokyo 162-8666, Japan;2. Department of Genomic Medicine, Mie University Hospital, 2-174 Edobashi, Tsu, Mie 514-8507, Japan;3. Department of Central Laboratories, Mie University Hospital, 2-174 Edobashi, Tsu, Mie 514-8507, Japan;4. Department of Otorhinolaryngology, Head & Neck Surgery, Mie University Graduate School of Medicine, 2-174 Edobashi, Tsu, Mie 514-8507, Japan;1. Department of Respiratory Medicine, Toho University School of Medicine, 6-11-1 Omori-Nishi, Ota-ku, Tokyo, 143-8541, Japan;2. Department of Physiology, School of Medicine, Faculty of Medicine, Toho University, 5-21-16 Omori-Nishi, Ota-ku, Tokyo, 143-8540, Japan;3. Division of Chest Surgery, Toho University School of Medicine, Omori-Nishi, Ota-ku, Tokyo, 6-11-1, Japan;4. Department of Advanced and Integrated Interstitial Lung Diseases Research, School of Medicine, Toho University, 5-21-16 Omori-Nishi, Ota-ku, Tokyo, 143-8540, Japan;1. Department of Respiratory Medicine and Allergology, Kindai University Faculty of Medicine, Osakasayama, Osaka 589-8511, Japan;2. Department of Respiratory Medicine and Allergology, Kindai University Nara Hospital, Ikoma, Nara 630-0293, Japan;1. Department of Respiratory Medicine, Kanagawa Cardiovascular and Respiratory Center, Yokohama, Japan;2. Department of Respiratory Medicine, Saitama Red Cross Hospital, Saitama, Japan;3. Department of Biostatistics, Yokohama City University School of Medicine, Yokohama, Japan;1. Kanagawa Cardiovascular and Respiratory Center, Department of Respiratory Medicine, Tomioka-Higashi 6-16-1, Kanazawa-ku, Yokohama, 236-0051, Japan;2. University of Yamanashi Hospital, Department of Internal Medicine 2, Shimokato 1110, Chuo-shi, Yamanashi, 409-3898, Japan;1. Department of Respiratory Medicine and Infectious Disease, Graduate School of Medicine, Yamaguchi University, 1-1-1 Minami-kogushi, Ube, 755-8505, Japan;2. Department of Medicine and Clinical Science, Graduate School of Medicine, Yamaguchi University, 1-1-1 Minami-kogushi, Ube, 755-8505, Japan

Abstract:	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.

Keywords:	Bronchiectasis Cilia Immunofluorescence Kartagener syndrome Primary ciliary dyskinesia PCD"} {"#name":"keyword" "$":{"id":"kwrd0040"} "$$":[{"#name":"text" "_":"primary ciliary dyskinesia DNAH"} {"#name":"keyword" "$":{"id":"kwrd0050"} "$$":[{"#name":"text" "_":"dynein axonemal heavy chain HSVA"} {"#name":"keyword" "$":{"id":"kwrd0060"} "$$":[{"#name":"text" "_":"high-speed video microscopy analysis IF"} {"#name":"keyword" "$":{"id":"kwrd0070"} "$$":[{"#name":"text" "_":"immunofluorescence ODA"} {"#name":"keyword" "$":{"id":"kwrd0080"} "$$":[{"#name":"text" "_":"outer dynein arm TEM"} {"#name":"keyword" "$":{"id":"kwrd0090"} "$$":[{"#name":"text" "_":"transmission electron microscopy nNO"} {"#name":"keyword" "$":{"id":"kwrd0100"} "$$":[{"#name":"text" "_":"nasal nitric oxide
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