Photoreceptor sensory cilia and ciliopathies: focus on CEP290, RPGR and their interacting proteins.
about
Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retinaMolecular complexes that direct rhodopsin transport to primary ciliaCEP290 alleles in mice disrupt tissue-specific cilia biogenesis and recapitulate features of syndromic ciliopathiesBiology and therapy of inherited retinal degenerative disease: insights from mouse modelsMutations in POMGNT1 cause non-syndromic retinitis pigmentosaCiliopathy-associated gene Cc2d2a promotes assembly of subdistal appendages on the mother centriole during cilia biogenesisDisruption of the retinitis pigmentosa 28 gene Fam161a in mice affects photoreceptor ciliary structure and leads to progressive retinal degenerationAxial Spondylometaphyseal Dysplasia Is Caused by C21orf2 MutationsZebrafish--on the move towards ophthalmological researchGenetic architecture of retinal and macular degenerative diseases: the promise and challenges of next-generation sequencing.Cluap1 is essential for ciliogenesis and photoreceptor maintenance in the vertebrate eye.Primary cilia signaling mediates intraocular pressure sensation.Up-regulation of tumor necrosis factor superfamily genes in early phases of photoreceptor degenerationAltered miRNA expression in canine retinas during normal development and in models of retinal degeneration.Natural history of cone disease in the murine model of Leber congenital amaurosis due to CEP290 mutation: determining the timing and expectation of therapy.Network Modules of the Cross-Species Genotype-Phenotype Map Reflect the Clinical Severity of Human DiseasesA long-term efficacy study of gene replacement therapy for RPGR-associated retinal degenerationTOPORS, a Dual E3 Ubiquitin and Sumo1 Ligase, Interacts with 26 S Protease Regulatory Subunit 4, Encoded by the PSMC1 Gene.AAV-Mediated Clarin-1 Expression in the Mouse Retina: Implications for USH3A Gene Therapy.RPGR: Its role in photoreceptor physiology, human disease, and future therapies.TULP1 mutations causing early-onset retinal degeneration: preserved but insensitive macular cones.Knockdown of poc1b causes abnormal photoreceptor sensory cilium and vision impairment in zebrafish.What's in a name? RPGR mutations redefine the genetic and phenotypic landscape in retinal degenerative diseases.Novel Candidate Genes and a Wide Spectrum of Structural and Point Mutations Responsible for Inherited Retinal Dystrophies Revealed by Exome SequencingMolecular studies of phenotype variation in canine RPGR-XLPRA1.In vitro transdifferentiation of human peripheral blood mononuclear cells to photoreceptor-like cells.Hypomorphic mutations identified in the candidate Leber congenital amaurosis gene CLUAP1.Bi-allelic Truncating Mutations in CEP78, Encoding Centrosomal Protein 78, Cause Cone-Rod Degeneration with Sensorineural Hearing LossThree-dimensional retinal organoids from mouse pluripotent stem cells mimic in vivo development with enhanced stratification and rod photoreceptor differentiation.Loss of MACF1 Abolishes Ciliogenesis and Disrupts Apicobasal Polarity Establishment in the Retina.Eyes shut homolog is required for maintaining the ciliary pocket and survival of photoreceptors in zebrafishDifferentiation of human embryonic stem cells into cone photoreceptors through simultaneous inhibition of BMP, TGFβ and Wnt signaling.Structural and molecular bases of rod photoreceptor morphogenesis and disease.In Vitro Modeling Using Ciliopathy-Patient-Derived Cells Reveals Distinct Cilia Dysfunctions Caused by CEP290 Mutations.CEP290 gene transfer rescues Leber congenital amaurosis cellular phenotype.Distilling a Visual Network of Retinitis Pigmentosa Gene-Protein Interactions to Uncover New Disease Candidates.Progressive retinal atrophy in the Polski Owczarek Nizinny dog: a clinical and genetic study.Primary Cilium-Mediated Retinal Pigment Epithelium Maturation Is Disrupted in Ciliopathy Patient Cells.Specific retinal phenotype in early IQCB1-related disease.Optical coherence tomography identifies outer retina thinning in frontotemporal degeneration.
P2860
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P2860
Photoreceptor sensory cilia and ciliopathies: focus on CEP290, RPGR and their interacting proteins.
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
2012年论文
@zh
2012年论文
@zh-cn
name
Photoreceptor sensory cilia an ...... nd their interacting proteins.
@ast
Photoreceptor sensory cilia an ...... nd their interacting proteins.
@en
type
label
Photoreceptor sensory cilia an ...... nd their interacting proteins.
@ast
Photoreceptor sensory cilia an ...... nd their interacting proteins.
@en
prefLabel
Photoreceptor sensory cilia an ...... nd their interacting proteins.
@ast
Photoreceptor sensory cilia an ...... nd their interacting proteins.
@en
P2860
P356
P1433
P1476
Photoreceptor sensory cilia an ...... nd their interacting proteins.
@en
P2093
Rivka A Rachel
P2860
P2888
P356
10.1186/2046-2530-1-22
P577
2012-12-03T00:00:00Z