The role of RPGR in cilia formation and actin stability (Q24338338)

GOA release 2020-03-11

cilium assembly

1 reference

GOA release 2020-03-11

Alan F Wright

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Ignacio Moraga

object named as

Ignacio Moraga

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author name string

Milica Gakovic

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Xinhua Shu

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Ioannis Kasioulis

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Sarah Carpanini

Intraflagellar transport and the sensory outer segment of vertebrate photoreceptors

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language of work or name

English

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publication date

15 December 2011

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published in

Human Molecular Genetics

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volume

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issue

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page(s)

4840-50

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cites work

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A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa

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RPGR isoforms in photoreceptor connecting cilia and the transitional zone of motile cilia

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Developmental and tissue expression of Xenopus laevis RPGR.

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Zebrafish Rpgr is required for normal retinal development and plays a role in dynein-based retrograde transport processes

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RPGR ORF15 isoform co-localizes with RPGRIP1 at centrioles and basal bodies and interacts with nucleophosmin

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RPGR-ORF15, which is mutated in retinitis pigmentosa, associates with SMC1, SMC3, and microtubule transport proteins

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Identification of a novel protein interacting with RPGR.

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The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors

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In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse

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A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies

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A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3)

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Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa

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Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1

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Mutation- and tissue-specific alterations of RPGR transcripts.

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The 1.7 A crystal structure of the regulator of chromosome condensation (RCC1) reveals a seven-bladed propeller

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Interaction of retinitis pigmentosa GTPase regulator (RPGR) with RAB8A GTPase: implications for cilia dysfunction and photoreceptor degeneration

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Mutant rab8 Impairs docking and fusion of rhodopsin-bearing post-Golgi membranes and causes cell death of transgenic Xenopus rods

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A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis

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Ciliary transport of opsin

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Cilia and the cell cycle?

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Cell shape and contractility regulate ciliogenesis in cell cycle-arrested cells.

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Focal adhesion kinase: in command and control of cell motility

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MIM and cortactin antagonism regulates ciliogenesis and hedgehog signaling.

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Functional genomic screen for modulators of ciliogenesis and cilium length

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Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

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Nesprin-2 interacts with meckelin and mediates ciliogenesis via remodelling of the actin cytoskeleton

21 January 2018

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RhoA-mediated apical actin enrichment is required for ciliogenesis and promoted by Foxj1

21 January 2018

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The ciliary pocket: an endocytic membrane domain at the base of primary and motile cilia

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Assembly and mechanosensory function of focal adhesions: experiments and models.

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Focal adhesion kinase: switching between GAPs and GEFs in the regulation of cell motility

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FAK-Src signalling through paxillin, ERK and MLCK regulates adhesion disassembly

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Focal adhesion kinase modulates tension signaling to control actin and focal adhesion dynamics

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Actin in membrane trafficking

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Rho GTPases and actin dynamics in membrane protrusions and vesicle trafficking

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Rab8 promotes polarized membrane transport through reorganization of actin and microtubules in fibroblasts

21 January 2018

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Actin in the photoreceptor connecting cilium: immunocytochemical localization to the site of outer segment disk formation.

21 January 2018

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Retinitis pigmentosa GTPase regulator (RPGRr)-interacting protein is stably associated with the photoreceptor ciliary axoneme and anchors RPGR to the connecting cilium

21 January 2018

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The ciliopathy-associated protein homologs RPGRIP1 and RPGRIP1L are linked to cilium integrity through interaction with Nek4 serine/threonine kinase.

21 January 2018

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Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome

21 January 2018

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Nek4 status differentially alters sensitivity to distinct microtubule poisons

21 January 2018

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Phosphoinositides, ezrin/moesin, and rac1 regulate fusion of rhodopsin transport carriers in retinal photoreceptors

21 January 2018

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Craniofacial ciliopathies: A new classification for craniofacial disorders

21 January 2018

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inferred from DOI database lookup

7 January 2021

based on heuristic

Ciliogenesis in photoreceptor cells of the retina

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR423