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1. 原発性線毛機能不全（線毛不動症候群） primary ciliary dyskinesia immotile cilia syndrome
2. 成人における気管支拡張症の臨床症状および診断 clinical manifestations and diagnosis of bronchiectasis in adults
3. 小児における気管支拡張症の原因 causes of bronchiectasis in children
4. 感染症を繰り返す小児に対するアプローチ approach to the child with recurrent infections
5. 慢性副鼻腔炎の臨床症状、病態生理、および診断 clinical manifestations pathophysiology and diagnosis of chronic rhinosinusitis

Exome Sequencing Identifies Mutations in CCDC114 as a Cause of Primary Ciliary Dyskinesia.

Knowles MR, Leigh MW, Ostrowski LE, Huang L, Carson JL, Hazucha MJ, Yin W, Berg JS, Davis SD, Dell SD, Ferkol TW, Rosenfeld M, Sagel SD, Milla CE, Olivier KN, Turner EH, Lewis AP, Bamshad MJ, Nickerson DA, Shendure J, Zariwala MA; Genetic Disorders of Mucociliary Clearance Consortium.SourceDepartment of Medicine, UNC School of Medicine, Chapel Hill, NC 27599, USA. Electronic address: knowles@med.unc.edu.
American journal of human genetics.Am J Hum Genet.2013 Jan 10;92(1):99-106. doi: 10.1016/j.ajhg.2012.11.003. Epub 2012 Dec 20.
Primary ciliary dyskinesia (PCD) is a genetically heterogeneous, autosomal-recessive disorder, characterized by oto-sino-pulmonary disease and situs abnormalities. PCD-causing mutations have been identified in 14 genes, but they collectively account for only ∼60% of all PCD. To identify mutations
PMID 23261302

Serapinas D, Staikūnienė J, Barkauskienė D, Jackutė J, Sakalauskas R.SourceDepartment of Pulmonology and Immunology, Medical Academy, Lithuanian University of Health Sciences, Kaunas, Lituania. dserapinas@gmail.com
Archivos de bronconeumología.Arch Bronconeumol.2013 Jan;49(1):28-30. doi: 10.1016/j.arbres.2012.02.021. Epub 2012 Apr 30.
Kartagener's syndrome is a rare autosomal-recessive genetic disease with progressive damage of the respiratory system and situs inversus. Although the management of patients with Kartagener's syndrome remains uncertain and evidence is limited, it is important to follow up these patients with an adeq
PMID 22551925

Carbajal-González BI, Heuser T, Fu X, Lin J, Smith BW, Mitchell DR, Nicastro D.SourceDepartment of Biology, Rosenstiel Center, MS029, Brandeis University, 415 South Street, Waltham, Massachusetts.
Cytoskeleton (Hoboken, N.J.).Cytoskeleton (Hoboken).2012 Dec 26. doi: 10.1002/cm.21094. [Epub ahead of print]
Cilia and flagella are conserved hair-like appendages of eukaryotic cells that function as sensing and motility generating organelles. Motility is driven by thousands of axonemal dyneins that require precise regulation. One essential motility regulator is the central pair complex (CPC) and many CPC
PMID 23281266

Yoshioka Daisuke,Sakamoto Noriho,Ishimatsu Yuji,Kakugawa Tomoyuki,Ishii Hiroshi,Mukae Hiroshi,Kadota Jun-ichi,Kohno Shigeru
Internal Medicine 49(14), 1437-1440, 2010
A 46-year-old man was referred to our hospital with hemoptysis. He had been diagnosed with chronic sinusitis since childhood, but had received no treatment. Chest CT showed a diffuse centrilobular gra …
NAID 130000299554