about
The dynamic cilium in human diseasesCep164, a novel centriole appendage protein required for primary cilium formationMutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructureCCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formationExome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesiaMNS1 is essential for spermiogenesis and motile ciliary functions in miceDNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein armDYX1C1 is required for axonemal dynein assembly and ciliary motilityZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogsThe coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formationKtu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins.CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms.The centriolar satellite protein AZI1 interacts with BBS4 and regulates ciliary trafficking of the BBSomeFused has evolved divergent roles in vertebrate Hedgehog signalling and motile ciliogenesisLoss of SPEF2 function in mice results in spermatogenesis defects and primary ciliary dyskinesiaCCDC65 mutation causes primary ciliary dyskinesia with normal ultrastructure and hyperkinetic ciliaPrimary ciliary dyskinesia.Structure and Functional Role of Dynein's Microtubule-Binding DomainODA16 aids axonemal outer row dynein assembly through an interaction with the intraflagellar transport machineryLoss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory ComplexSCO-ping out the mechanisms underlying the etiology of hydrocephalusEstablishment of smooth muscle and cartilage juxtaposition in the developing mouse upper airwaysPrimary cilia dynamics instruct tissue patterning and repair of corneal endotheliumInactivation of Chibby affects function of motile airway ciliaMutation of murine adenylate kinase 7 underlies a primary ciliary dyskinesia phenotype.Ahi1, whose human ortholog is mutated in Joubert syndrome, is required for Rab8a localization, ciliogenesis and vesicle traffickingPrimary ciliary dyskinesia in mice lacking the novel ciliary protein Pcdp1.The zebrafish foxj1a transcription factor regulates cilia function in response to injury and epithelial stretchCongenital heart disease and the specification of left-right asymmetryProtein-protein interactions between intermediate chains and the docking complex of Chlamydomonas flagellar outer arm dynein.Founder mutation in RSPH4A identified in patients of Hispanic descent with primary ciliary dyskinesiaMechanosignaling between central apparatus and radial spokes controls axonemal dynein activitySentan: a novel specific component of the apical structure of vertebrate motile cilia.Sensing a sensor: identifying the mechanosensory function of primary ciliaPhenotyping male infertility in the mouse: how to get the most out of a 'non-performer'Cooperative binding of the outer arm-docking complex underlies the regular arrangement of outer arm dynein in the axoneme.Zebrafish krüppel-like factor 4a represses intestinal cell proliferation and promotes differentiation of intestinal cell lineages.Genome resequencing and bioinformatic analysis of SNP containing candidate genes in the autoimmune vitiligo Smyth line chicken model.RNA-Seq quantification of the human small airway epithelium transcriptome
P2860
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P2860
description
2007 nî lūn-bûn
@nan
2007 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
name
Genetic defects in ciliary structure and function.
@ast
Genetic defects in ciliary structure and function.
@en
Genetic defects in ciliary structure and function.
@nl
type
label
Genetic defects in ciliary structure and function.
@ast
Genetic defects in ciliary structure and function.
@en
Genetic defects in ciliary structure and function.
@nl
prefLabel
Genetic defects in ciliary structure and function.
@ast
Genetic defects in ciliary structure and function.
@en
Genetic defects in ciliary structure and function.
@nl
P1476
Genetic defects in ciliary structure and function.
@en
P2093
Maimoona A Zariwala
Michael R Knowles
P304
P356
10.1146/ANNUREV.PHYSIOL.69.040705.141301
P50
P577
2007-01-01T00:00:00Z