The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery.
about
From Planar Cell Polarity to Ciliogenesis and Back: The Curious Tale of the PPE and CPLANE proteins.Cilia-mediated Hedgehog signaling controls form and function in the mammalian larynx.Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease.Compound heterozygous alterations in intraflagellar transport protein CLUAP1 in a child with a novel Joubert and oral-facial-digital overlap syndromeFunctional exploration of the IFT-A complex in intraflagellar transport and ciliogenesis.Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia.Toolbox in a tadpole: Xenopus for kidney research.INTU is essential for oncogenic Hh signaling through regulating primary cilia formation in basal cell carcinoma.The pathological consequences of impaired genome integrity in humans; disorders of the DNA replication machinery.Primary Cilia and Mammalian Hedgehog Signaling.Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes.Intraflagellar transport: mechanisms of motor action, cooperation, and cargo delivery.Oral-facial-digital syndrome type I cells exhibit impaired DNA repair; unanticipated consequences of defective OFD1 outside of the cilia network.Nuclear roles for cilia-associated proteins.Genes and molecular pathways underpinning ciliopathies.Characterizing the morbid genome of ciliopathies.Integration of over 9,000 mass spectrometry experiments builds a global map of human protein complexes.Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research.Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies.Evolutionary Proteomics Uncovers Ancient Associations of Cilia with Signaling Pathways.Protein localization screening in vivo reveals novel regulators of multiciliated cell development and function.Functional characterization of tektin-1 in motile cilia and evidence for TEKT1 as a new candidate gene for motile ciliopathies.The small GTPase RSG1 controls a final step in primary cilia initiation.WDPCP regulates the ciliogenesis of human sinonasal epithelial cells in chronic rhinosinusitis.Corrigendum: The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery.The CPLANE protein Intu protects kidneys from ischemia-reperfusion injury by targeting STAT1 for degradation.
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The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery.
description
article científic
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article scientifique
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articolo scientifico
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artigo científico
@pt
bilimsel makale
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scientific article published on 09 May 2016
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
The ciliopathy-associated CPLA ...... flagellar transport machinery.
@en
The ciliopathy-associated CPLA ...... flagellar transport machinery.
@nl
type
label
The ciliopathy-associated CPLA ...... flagellar transport machinery.
@en
The ciliopathy-associated CPLA ...... flagellar transport machinery.
@nl
prefLabel
The ciliopathy-associated CPLA ...... flagellar transport machinery.
@en
The ciliopathy-associated CPLA ...... flagellar transport machinery.
@nl
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The ciliopathy-associated CPLA ...... flagellar transport machinery.
@en
P2093
Ange-Line Bruel
Anne Malfroot
Armand Biver
Chanjae Lee
Christel Thauvin-Robinet
Daniel H Cohn
Deborah Krakow
Friedhelm Hildebrandt
Ghislaine Pierquin
Jacqueline M Tabler
P2860
P2888
P304
P356
10.1038/NG.3558
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P50
P577
2016-05-09T00:00:00Z