IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy.
about
Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesisCEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the ciliumDisruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and miceMutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein armsA common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathiesThe Zn finger protein Iguana impacts Hedgehog signaling by promoting ciliogenesisMainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutationsCombined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney DiseaseDefects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humansNephronophthisisGene therapy rescues cilia defects and restores olfactory function in a mammalian ciliopathy modelCiliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndromeDYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type IIIJeune syndrome: description of 13 cases and a proposal for follow-up protocolThe role of primary cilia in the development and disease of the retinaCilia/Ift protein and motor -related bone diseases and mouse modelsIFT proteins accumulate during cell division and localize to the cleavage furrow in ChlamydomonasThe nephronophthisis-related gene ift-139 is required for ciliogenesis in Caenorhabditis elegansCrystal structure of the intraflagellar transport complex 25/27The nonmotile ciliopathies.MKS and NPHP modules cooperate to establish basal body/transition zone membrane associations and ciliary gate function during ciliogenesisArchitecture and function of IFT complex proteins in ciliogenesisIntraflagellar transport complex structure and cargo interactions.Nephronophthisis and related syndromesCiliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 geneExome sequencing identifies WDR35 variants involved in Sensenbrenner syndromeAn Ift80 mouse model of short rib polydactyly syndromes shows defects in hedgehog signalling without loss or malformation of ciliaThe IFT-A complex regulates Shh signaling through cilia structure and membrane protein traffickingModelling a ciliopathy: Ahi1 knockdown in model systems reveals an essential role in brain, retinal, and renal developmentIFT25 links the signal-dependent movement of Hedgehog components to intraflagellar transportThe intraflagellar transport protein IFT80 is required for cilia formation and osteogenesisThe planar cell polarity effector Fuz is essential for targeted membrane trafficking, ciliogenesis and mouse embryonic developmentMutations in mouse Ift144 model the craniofacial, limb and rib defects in skeletal ciliopathiesCauli: a mouse strain with an Ift140 mutation that results in a skeletal ciliopathy modelling Jeune syndromeKnockdown of the intraflagellar transport protein IFT46 stimulates selective gene expression in mouse chondrocytes and affects early development in zebrafishIFT80 is essential for chondrocyte differentiation by regulating Hedgehog and Wnt signaling pathwaysDevelopment of an automated imaging pipeline for the analysis of the zebrafish larval kidneyExome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvementMutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy
P2860
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P2860
IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy.
description
2007 nî lūn-bûn
@nan
2007 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի ապրիլին 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
IFT80, which encodes a conserv ...... phyxiating thoracic dystrophy.
@ast
IFT80, which encodes a conserv ...... phyxiating thoracic dystrophy.
@en
IFT80, which encodes a conserv ...... phyxiating thoracic dystrophy.
@nl
type
label
IFT80, which encodes a conserv ...... phyxiating thoracic dystrophy.
@ast
IFT80, which encodes a conserv ...... phyxiating thoracic dystrophy.
@en
IFT80, which encodes a conserv ...... phyxiating thoracic dystrophy.
@nl
prefLabel
IFT80, which encodes a conserv ...... phyxiating thoracic dystrophy.
@ast
IFT80, which encodes a conserv ...... phyxiating thoracic dystrophy.
@en
IFT80, which encodes a conserv ...... phyxiating thoracic dystrophy.
@nl
P2093
P356
P1433
P1476
IFT80, which encodes a conserv ...... phyxiating thoracic dystrophy.
@en
P2093
Beyhan Tuysuz
Chad G Pearson
Chiara Bacchelli
Colin Johnson
Elizabeth Bland
Jane Hartley
Jonathan L Tobin
Josephine Hill
Mark Winey
Masatake Kai
P2888
P304
P356
10.1038/NG2038
P407
P577
2007-04-29T00:00:00Z