Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins.
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The dynamic cilium in human diseasesMutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructureWhole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesiaIndividuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathyLoss-of-function mutations in LRRC6, a gene essential for proper axonemal assembly of inner and outer dynein arms, cause primary ciliary dyskinesiaCCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formationHEATR2 plays a conserved role in assembly of the ciliary motile apparatusMutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein armsMutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia.Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesiaARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetryDYX1C1 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 dogsMutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesiaThe coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formationMutations in DNAH1, which encodes an inner arm heavy chain dynein, lead to male infertility from multiple morphological abnormalities of the sperm flagellaCCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms.Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defectsDeletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defectsLoss-of-function mutations in the human ortholog of Chlamydomonas reinhardtii ODA7 disrupt dynein arm assembly and cause primary ciliary dyskinesiaPhosphorylation-dependent PIH1D1 interactions define substrate specificity of the R2TP cochaperone complexFounder mutation(s) in the RSPH9 gene leading to primary ciliary dyskinesia in two inbred Bedouin familiesLoss of SPEF2 function in mice results in spermatogenesis defects and primary ciliary dyskinesiaGenetic factors contributing to human primary ciliary dyskinesia and male infertilityGenetics and biology of primary ciliary dyskinesiaSubstrate recognition and function of the R2TP complex in response to cellular stressThe awesome power of dikaryons for studying flagella and basal bodies in Chlamydomonas reinhardtiiEvolutionary conservation and expression of human RNA-binding proteins and their role in human genetic diseaseA prefoldin-associated WD-repeat protein (WDR92) is required for the correct architectural assembly of motile cilia.CCDC65 mutation causes primary ciliary dyskinesia with normal ultrastructure and hyperkinetic ciliaDNAH6 and Its Interactions with PCD Genes in Heterotaxy and Primary Ciliary DyskinesiaCiliary beating recovery in deficient human airway epithelial cells after lentivirus ex vivo gene therapyUnexpected link between polyketide synthase and calcium carbonate biomineralization.Unexpected genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller population.Natural allelic variations of xenobiotic-metabolizing enzymes affect sexual dimorphism in Oryzias latipesLRRC6 mutation causes primary ciliary dyskinesia with dynein arm defectsStructural Basis for Phosphorylation-Dependent Recruitment of Tel2 to Hsp90 by Pih1Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art reviewLoss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex
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P2860
Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins.
description
2008 nî lūn-bûn
@nan
2008 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年学术文章
@wuu
2008年学术文章
@zh-cn
2008年学术文章
@zh-hans
2008年学术文章
@zh-my
2008年学术文章
@zh-sg
2008年學術文章
@yue
name
Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins
@nl
Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins.
@ast
Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins.
@en
Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins.
@en-gb
type
label
Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins
@nl
Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins.
@ast
Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins.
@en
Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins.
@en-gb
prefLabel
Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins
@nl
Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins.
@ast
Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins.
@en
Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins.
@en-gb
P2093
P2860
P50
P921
P3181
P356
P1433
P1476
Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins.
@en
P2093
Atsushi Miyawaki
Chikako Hara
Daisuke Kobayashi
David R Mitchell
Gerard Leblond
Hanswalter Zentgraf
Haruo Hagiwara
Hideaki Mizuno
Hiroyuki Kawano
Hiroyuki Takeda
P2860
P2888
P304
P3181
P356
10.1038/NATURE07471
P407
P577
2008-12-01T00:00:00Z
P5875
P6179
1042661703