The role of primary cilia in the development and disease of the retina
about
Mutation of POC1B in a severe syndromic retinal ciliopathyGenetics and biology of primary ciliary dyskinesiaCluap1 is essential for ciliogenesis and photoreceptor maintenance in the vertebrate eye.A genome-wide association study for diabetic retinopathy in a Japanese population: potential association with a long intergenic non-coding RNA.Ciliopathy proteins establish a bipartite signaling compartment in a C. elegans thermosensory neuronFunction and regulation of primary cilia and intraflagellar transport proteins in the skeletonCilia and DiseasesA Splice Variant of Bardet-Biedl Syndrome 5 (BBS5) Protein that Is Selectively Expressed in Retina.TULP1 mutations causing early-onset retinal degeneration: preserved but insensitive macular cones.Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathyCcdc11 is a novel centriolar satellite protein essential for ciliogenesis and establishment of left-right asymmetry.Hypomorphic mutations identified in the candidate Leber congenital amaurosis gene CLUAP1.Separation of photoreceptor cell compartments in mouse retina for protein analysis.RPGR-associated retinopathy: clinical features, molecular genetics, animal models and therapeutic options.Establishing the involvement of the novel gene AGBL5 in retinitis pigmentosa by whole genome sequencing.Genes and molecular pathways underpinning ciliopathies.Primary cilia in rat mature Müller glia: downregulation of IFT20 expression reduces sonic hedgehog-mediated proliferation and dedifferentiation potential of Müller glia primary cultures.Intracellular localization of α-tubulin acetyltransferase ATAT1 in rat ciliated cells.Insights into Ciliary Genes and Evolution from Multi-Level Phylogenetic Profiling.Primary Cilium-Mediated Retinal Pigment Epithelium Maturation Is Disrupted in Ciliopathy Patient Cells.Triple Vectors Expand AAV Transfer Capacity in the Retina.The formation of the light-sensing compartment of cone photoreceptors coincides with a transcriptional switch.The centriolar satellite protein CCDC66 interacts with CEP290 and functions in cilium formation and trafficking.Arl3 and RP2 regulate the trafficking of ciliary tip kinesins.Signaling through the Primary Cilium.A homozygous nonsense CEP250 mutation combined with a heterozygous nonsense C2orf71 mutation is associated with atypical Usher syndrome.Dynein motors: How AAA+ ring opening and closing coordinates microtubule binding and linker movement.Sensing the cilium, digital capture of ciliary data for comparative genomics investigations.
P2860
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P2860
The role of primary cilia in the development and disease of the retina
description
2014 nî lūn-bûn
@nan
2014 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի հունվարին 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
The role of primary cilia in the development and disease of the retina
@ast
The role of primary cilia in the development and disease of the retina
@en
The role of primary cilia in the development and disease of the retina
@en-gb
The role of primary cilia in the development and disease of the retina
@nl
type
label
The role of primary cilia in the development and disease of the retina
@ast
The role of primary cilia in the development and disease of the retina
@en
The role of primary cilia in the development and disease of the retina
@en-gb
The role of primary cilia in the development and disease of the retina
@nl
prefLabel
The role of primary cilia in the development and disease of the retina
@ast
The role of primary cilia in the development and disease of the retina
@en
The role of primary cilia in the development and disease of the retina
@en-gb
The role of primary cilia in the development and disease of the retina
@nl
P2860
P356
P1433
P1476
The role of primary cilia in the development and disease of the retina
@en
P2093
Colin A Johnson
P2860
P356
10.4161/ORG.26710
P407
P577
2014-01-01T00:00:00Z