先天性線毛機能不全症
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
- present at birth but not necessarily hereditary; acquired during fetal development (同)inborn, innate
- abnormality in performing voluntary muscle movements
PrepTutorEJDIC
- (目の)毛様体の / まつげの
- (病気・身体的欠陥など)生まれつきの,先天的な
- まつげ(eyelashes) / 繊毛
UpToDate Contents
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English Journal
- TTC25 Deficiency Results in Defects of the Outer Dynein Arm Docking Machinery and Primary Ciliary Dyskinesia with Left-Right Body Asymmetry Randomization.
- Wallmeier J1, Shiratori H2, Dougherty GW1, Edelbusch C1, Hjeij R1, Loges NT1, Menchen T1, Olbrich H1, Pennekamp P1, Raidt J1, Werner C1, Minegishi K2, Shinohara K2, Asai Y2, Takaoka K2, Lee C3, Griese M4, Memari Y5, Durbin R5, Kolb-Kokocinski A5, Sauer S6, Wallingford JB3, Hamada H2, Omran H7.
- American journal of human genetics.Am J Hum Genet.2016 Aug 4;99(2):460-9. doi: 10.1016/j.ajhg.2016.06.014.
- Multiprotein complexes referred to as outer dynein arms (ODAs) develop the main mechanical force to generate the ciliary and flagellar beat. ODA defects are the most common cause of primary ciliary dyskinesia (PCD), a congenital disorder of ciliary beating, characterized by recurrent infections of t
- PMID 27486780
- Clinical manifestations in primary ciliary dyskinesia: systematic review and meta-analysis.
- Goutaki M1, Meier AB1, Halbeisen FS2, Lucas JS3, Dell SD4, Maurer E2, Casaulta C5, Jurca M2, Spycher BD2, Kuehni CE6.
- The European respiratory journal.Eur Respir J.2016 Aug 4. pii: ERJ-00736-2016. doi: 10.1183/13993003.00736-2016. [Epub ahead of print]
- Few original studies have described the prevalence and severity of clinical symptoms of primary ciliary dyskinesia (PCD). This systematic review and meta-analysis aimed to identify all published studies on clinical manifestations of PCD patients, and to describe their prevalence and severity stratif
- PMID 27492829
- Recent advances in primary ciliary dyskinesia.
- Takeuchi K1, Kitano M2, Ishinaga H2, Kobayashi M2, Ogawa S3, Nakatani K4, Masuda S5, Nagao M6, Fujisawa T6.
- Auris, nasus, larynx.Auris Nasus Larynx.2016 Jun;43(3):229-36. doi: 10.1016/j.anl.2015.09.012. Epub 2015 Oct 31.
- Primary ciliary dyskinesia (PCD) is a genetic disease inherited in an autosomal recessive manner. The prevalence of PCD is estimated to be 1 in 20,000 live births. Congenital abnormality of the primary cilia results in situs inversus in 50% of patients. Decreased function of motile cilia causes chro
- PMID 26527516
Related Links
- Cilia: The Link Between Bronchiectasis, Sinusitis, and Disturbances of Cardiac Laterality In this issue of Circulation, Kennedy et al 4 provide evidence linking human heterotaxy to primary ciliary dyskinesia (PCD). Although this ...
- [Show abstract] [Hide abstract] ABSTRACT: Primary ciliary dyskinesia (PCD) is a rare autosomal recessive disease, caused by specific primary structural and/or functional abnormalities of the motile cilia, in contrast with the ...
★リンクテーブル★
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- 英
- congenital ciliary dyskinesia
- 関
- 原発性線毛機能不全症
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- 関
- congenital、congenitally
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- 関
- cilia、ciliary body、cilium
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線毛機能不全、線毛機能不全症
- 関
- ciliary motility disorder、immotile cilia syndrome
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