RPGR ORF15 isoform co-localizes with RPGRIP1 at centrioles and basal bodies and interacts with nucleophosmin
about
NPM1/B23: A Multifunctional Chaperone in Ribosome Biogenesis and Chromatin RemodelingAlternative splicing controls nuclear translocation of the cell cycle-regulated Nek2 kinaseThe role of RPGR in cilia formation and actin stabilityRPGR-ORF15, which is mutated in retinitis pigmentosa, associates with SMC1, SMC3, and microtubule transport proteinsInteraction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations.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 mouseRPGRIP1 and cone-rod dystrophy in dogsThe Role of RPGR and Its Interacting Proteins in CiliopathiesMultiprotein complexes of Retinitis Pigmentosa GTPase regulator (RPGR), a ciliary protein mutated in X-linked Retinitis Pigmentosa (XLRP).Ablation of retinal ciliopathy protein RPGR results in altered photoreceptor ciliary compositionThe centrosomal protein pericentrin identified at the basal body complex of the connecting cilium in mouse photoreceptorsStructural and functional plasticity of subcellular tethering, targeting and processing of RPGRIP1 by RPGR isoformsNPM/ALK binds and phosphorylates the RNA/DNA-binding protein PSF in anaplastic large-cell lymphoma.Analysis of six candidate genes as potential modifiers of disease expression in canine XLPRA1, a model for human X-linked retinitis pigmentosa 3The Ciliary Transition Zone: Finding the Pieces and Assembling the Gate.Rd9 is a naturally occurring mouse model of a common form of retinitis pigmentosa caused by mutations in RPGR-ORF15Disease mechanisms in late-onset retinal macular degeneration associated with mutation in C1QTNF5.Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis.Structural organization and expression pattern of the canine RPGRIP1 isoforms in retinal tissue.Gene augmentation for X-linked retinitis pigmentosa caused by mutations in RPGRInner retinal abnormalities in X-linked retinitis pigmentosa with RPGR mutations.Gene therapy rescues photoreceptor blindness in dogs and paves the way for treating human X-linked retinitis pigmentosa.RPGR: Its role in photoreceptor physiology, human disease, and future therapies.Hypomorphic CEP290/NPHP6 mutations result in anosmia caused by the selective loss of G proteins in cilia of olfactory sensory neurons.Stability and Safety of an AAV Vector for Treating RPGR-ORF15 X-Linked Retinitis Pigmentosa.Phenotypic conservation in patients with X-linked retinitis pigmentosa caused by RPGR mutations.Insights into X-linked retinitis pigmentosa type 3, allied diseases and underlying pathomechanismsRPGR-containing protein complexes in syndromic and non-syndromic retinal degeneration due to ciliary dysfunction.RPGRIP1 is mutated in Leber congenital amaurosis: a mini-review.The ciliopathies: a transitional model into systems biology of human genetic disease.Retinitis Pigmentosa GTPase Regulator (RPGR) protein isoforms in mammalian retina: insights into X-linked Retinitis Pigmentosa and associated ciliopathies.Molecular studies of phenotype variation in canine RPGR-XLPRA1.The retinal ciliopathies.Loss of RPGR glutamylation underlies the pathogenic mechanism of retinal dystrophy caused by TTLL5 mutationsCiliary transition zone (TZ) proteins RPGR and CEP290: role in photoreceptor cilia and degenerative diseasesMolecular architecture of the centriole proteome: the conserved WD40 domain protein POC1 is required for centriole duplication and length control.Human retinopathy-associated ciliary protein retinitis pigmentosa GTPase regulator mediates cilia-dependent vertebrate development.RPGR and RP2: targets for the treatment of X-linked retinitis pigmentosa?Role of nucleophosmin in acute myeloid leukemia.Novel splice-site mutation in TTLL5 causes cone dystrophy in a consanguineous family.
P2860
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P2860
RPGR ORF15 isoform co-localizes with RPGRIP1 at centrioles and basal bodies and interacts with nucleophosmin
description
2005 nî lūn-bûn
@nan
2005 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
RPGR ORF15 isoform co-localize ...... d interacts with nucleophosmin
@ast
RPGR ORF15 isoform co-localize ...... d interacts with nucleophosmin
@en
RPGR ORF15 isoform co-localize ...... d interacts with nucleophosmin
@en-gb
RPGR ORF15 isoform co-localize ...... d interacts with nucleophosmin
@nl
type
label
RPGR ORF15 isoform co-localize ...... d interacts with nucleophosmin
@ast
RPGR ORF15 isoform co-localize ...... d interacts with nucleophosmin
@en
RPGR ORF15 isoform co-localize ...... d interacts with nucleophosmin
@en-gb
RPGR ORF15 isoform co-localize ...... d interacts with nucleophosmin
@nl
prefLabel
RPGR ORF15 isoform co-localize ...... d interacts with nucleophosmin
@ast
RPGR ORF15 isoform co-localize ...... d interacts with nucleophosmin
@en
RPGR ORF15 isoform co-localize ...... d interacts with nucleophosmin
@en-gb
RPGR ORF15 isoform co-localize ...... d interacts with nucleophosmin
@nl
P2093
P2860
P50
P356
P1476
RPGR ORF15 isoform co-localize ...... d interacts with nucleophosmin
@en
P2093
A F Wright
A J Faragher
R Vervoort
P2860
P304
P356
10.1093/HMG/DDI129
P407
P577
2005-03-16T00:00:00Z