Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia
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MCIDAS mutations result in a mucociliary clearance disorder with reduced generation of multiple motile ciliaCCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formationExpanding the genetic toolkit in Xenopus: Approaches and opportunities for human disease modelingGenetics and biology of primary ciliary dyskinesiaAccuracy of diagnostic testing in primary ciliary dyskinesiaDiagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art reviewGemC1 controls multiciliogenesis in the airway epitheliumPrimary Ciliary Dyskinesia: An Update on Clinical Aspects, Genetics, Diagnosis, and Future Treatment StrategiesMulticilin drives centriole biogenesis via E2f proteinsMyb permits multilineage airway epithelial cell differentiation.Recent advances in primary ciliary dyskinesia genetics.Airway basal cells. The "smoking gun" of chronic obstructive pulmonary diseaseDiagnosis and management of primary ciliary dyskinesia.Unique among ciliopathies: primary ciliary dyskinesia, a motile cilia disorder.The more we know, the more we have to discover: an exciting future for understanding cilia and ciliopathiesCyclin O (Ccno) functions during deuterosome-mediated centriole amplification of multiciliated cellsCilia dysfunction in lung disease.Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia.miR-34/449 control apical actin network formation during multiciliogenesis through small GTPase pathways.Primary ciliary dyskinesia and associated sensory ciliopathiesMicroRNAs as key regulators of GTPase-mediated apical actin reorganization in multiciliated epithelia.GEMC1 is a critical regulator of multiciliated cell differentiation.Multiciliated cellsGenetic basis of human left-right asymmetry disorders.A systematic analysis of orphan cyclins reveals CNTD2 as a new oncogenic driver in lung cancerThe Janus soul of centrosomes: a paradoxical role in disease?European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia.Motile and non-motile cilia in human pathology: from function to phenotypes.How a radial glial cell decides to become a multiciliated ependymal cell.Genes and molecular pathways underpinning ciliopathies.The aryl hydrocarbon receptor controls cyclin O to promote epithelial multiciliogenesis.An effective combination of whole-exome sequencing and runs of homozygosity for the diagnosis of primary ciliary dyskinesia in consanguineous families.Motile cilia defects in diseases other than primary ciliary dyskinesia: The contemporary diagnostic and research role for transmission electron microscopy.Centriole amplification by mother and daughter centrioles differs in multiciliated cells.Primary ciliary dyskinesia: mechanisms and management.Ciliary inclusion disease: report of a new primary ciliary dyskinesia variant.Systematic Analysis of CCNO Variants in a Defined Population: Implications for Clinical Phenotype and Differential Diagnosis.Mutations in CCNO and MCIDAS lead to a mucociliary clearance disorder due to reduced generation of multiple motile cilia.Constitutive Cyclin O deficiency results in penetrant hydrocephalus, impaired growth and infertility.Cell cycle proteins moonlight in multiciliogenesis.
P2860
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P2860
Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia
description
2014 nî lūn-bûn
@nan
2014 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
Mutations in CCNO result in co ...... ation of multiple motile cilia
@ast
Mutations in CCNO result in co ...... ation of multiple motile cilia
@en
Mutations in CCNO result in co ...... ation of multiple motile cilia
@en-gb
Mutations in CCNO result in co ...... ation of multiple motile cilia
@nl
type
label
Mutations in CCNO result in co ...... ation of multiple motile cilia
@ast
Mutations in CCNO result in co ...... ation of multiple motile cilia
@en
Mutations in CCNO result in co ...... ation of multiple motile cilia
@en-gb
Mutations in CCNO result in co ...... ation of multiple motile cilia
@nl
prefLabel
Mutations in CCNO result in co ...... ation of multiple motile cilia
@ast
Mutations in CCNO result in co ...... ation of multiple motile cilia
@en
Mutations in CCNO result in co ...... ation of multiple motile cilia
@en-gb
Mutations in CCNO result in co ...... ation of multiple motile cilia
@nl
P2093
P50
P921
P3181
P356
P1433
P1476
Mutations in CCNO result in co ...... ation of multiple motile cilia
@en
P2093
Basel H Alsabah
Chris Kintner
Chun-Ting Chen
Cordula Koerner-Rettberg
Dalal A Al-Mutairi
Elisabeth Horak
Gabriele Köhler
Gerard W Dougherty
Hanan E Shamseldin
Julia Wallmeier
P2888
P304
P3181
P356
10.1038/NG.2961
P407
P577
2014-06-01T00:00:00Z
P5875
P6179
1003940356