線毛機能不全、線毛機能不全症
- 関
- ciliary motility disorder、immotile cilia syndrome
WordNet
- relating to the ciliary body and associated structures of the eye
- of or relating to the human eyelash (同)ciliate
- of or relating to cilia projecting from the surface of a cell (同)ciliate, cilial
- abnormality in performing voluntary muscle movements
PrepTutorEJDIC
- (目の)毛様体の / まつげの
- まつげ(eyelashes) / 繊毛
UpToDate Contents
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English Journal
- Gene therapy rescues cilia defects and restores olfactory function in a mammalian ciliopathy model.
- McIntyre JC, Davis EE, Joiner A, Williams CL, Tsai IC, Jenkins PM, McEwen DP, Zhang L, Escobado J, Thomas S, Szymanska K, Johnson CA, Beales PL, Green ED, Mullikin JC, Program NC, Sabo A, Muzny DM, Gibbs RA, Attié-Bitach T, Yoder BK, Reed RR, Katsanis N, Martens JR.SourceDepartment of Pharmacology, University of Michigan, Ann Arbor, Michigan, USA.
- Nature medicine.Nat Med.2012 Sep 2. doi: 10.1038/nm.2860. [Epub ahead of print]
- Cilia are evolutionarily conserved microtubule-based organelles that are crucial for diverse biological functions, including motility, cell signaling and sensory perception. In humans, alterations in the formation and function of cilia manifest clinically as ciliopathies, a growing class of pleiotro
- PMID 22941275
- Effectiveness of sequencing selected exons of DNAH5 and DNAI1 in diagnosis of primary ciliary dyskinesia.
- Djakow J, Svobodová T, Hrach K, Uhlík J, Cinek O, Pohunek P.Source2nd Faculty of Medicine, Department of Pediatrics, Charles University in Prague and University Hospital Motol, Prague, Czech Republic. jana.djakow@lfmotol.cuni.cz.
- Pediatric pulmonology.Pediatr Pulmonol.2012 Sep;47(9):864-75. doi: 10.1002/ppul.22520. Epub 2012 Mar 13.
- INTRODUCTION: Primary ciliary dyskinesia (PCD) is a rare genetically heterogenous condition. Mutations in DNAH5 or DNAI1 genes can be found in about a third of the patients with PCD. Increased occurrence of mutations was described in several exons of these long genes. The objective of the study was
- PMID 22416021
Japanese Journal
- 症例 マクロライドの有効性を強制オシレーション法で経過観察した原発性線毛機能不全症例
- 日本呼吸器学会誌 = Annals of the Japanese Respiratory Society 4(6), 444-448, 2015-11-10
- NAID 40020654051
- 臨床研究・症例報告 Primary ciliary dyskinesiaの姉妹例
- 鼻粘膜の電子顕微鏡により原発性線毛機能不全症と診断された膿胸
- 胸部外科 = The Japanese journal of thoracic surgery 67(4), 315-318, 2014-04
- NAID 40020027244
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★リンクテーブル★
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- 英
- ciliary dyskinesia, dyskinetic cilia syndrome
- 関
- 線毛機能不全、線毛運動不全症、線毛運動障害
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線毛運動障害
- 関
- ciliary dyskinesia、immotile cilia syndrome
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- 英
- ciliary dyskinesia
- 関
- 線毛機能不全症
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原発性線毛運動不全症 PCD
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先天性線毛機能不全症
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- 関
- cilia、ciliary body、cilium
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