Disruption of CEP290 microtubule/membrane-binding domains causes retinal degeneration
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Concise Review: Patient-Specific Stem Cells to Interrogate Inherited Eye DiseaseCEP290 alleles in mice disrupt tissue-specific cilia biogenesis and recapitulate features of syndromic ciliopathiesNephrocystin proteins NPHP5 and Cep290 regulate BBSome integrity, ciliary trafficking and cargo deliveryFrom the cytoplasm into the cilium: bon voyage.My career path for developing gene therapy for blinding diseases: the importance of mentors, collaborators, and opportunities.Clinical characteristics and current therapies for inherited retinal degenerationsNatural history of cone disease in the murine model of Leber congenital amaurosis due to CEP290 mutation: determining the timing and expectation of therapy.Using Stem Cells to Model Diseases of the Outer RetinaCiliopathy-associated protein CEP290 modifies the severity of retinal degeneration due to loss of RPGR.A Review of Secondary Photoreceptor Degenerations in Systemic Disease.The Status of RPE65 Gene Therapy Trials: Safety and EfficacyStructural and molecular bases of rod photoreceptor morphogenesis and disease.Leber congenital amaurosis/early-onset severe retinal dystrophy: clinical features, molecular genetics and therapeutic interventions.Gene Therapy Using a miniCEP290 Fragment Delays Photoreceptor Degeneration in a Mouse Model of Leber Congenital Amaurosis.Intravitreal Injection of Splice-switching Oligonucleotides to Manipulate Splicing in Retinal Cells.In Vitro Modeling Using Ciliopathy-Patient-Derived Cells Reveals Distinct Cilia Dysfunctions Caused by CEP290 Mutations.Basal exon skipping and genetic pleiotropy: A predictive model of disease pathogenesis.CEP290 gene transfer rescues Leber congenital amaurosis cellular phenotype.Personalized models reveal mechanistic and therapeutic insights into CEP290-associated Leber congenital amaurosis.Whole-exome sequencing reveals POC5 as a novel gene associated with autosomal recessive retinitis pigmentosa.Identification of a mutation in CNNM4 by whole exome sequencing in an Amish family and functional link between CNNM4 and IQCB1.A human patient-derived cellular model of Joubert syndrome reveals ciliary defects which can be rescued with targeted therapies.Leber Congenital Amaurosis Associated with Mutations in CEP290, Clinical Phenotype, and Natural History in Preparation for Trials of Novel Therapies.Prescreening whole exome sequencing results from patients with retinal degeneration for variants in genes associated with retinal degeneration.SMC3 may play an important role in atopic asthma development.Potential of Gene Editing and Induced Pluripotent Stem Cells (iPSCs) in Treatment of Retinal Diseases.
P2860
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P2860
Disruption of CEP290 microtubule/membrane-binding domains causes retinal degeneration
description
2013 nî lūn-bûn
@nan
2013 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
name
Disruption of CEP290 microtubule/membrane-binding domains causes retinal degeneration
@ast
Disruption of CEP290 microtubule/membrane-binding domains causes retinal degeneration
@en
Disruption of CEP290 microtubule/membrane-binding domains causes retinal degeneration
@nl
type
label
Disruption of CEP290 microtubule/membrane-binding domains causes retinal degeneration
@ast
Disruption of CEP290 microtubule/membrane-binding domains causes retinal degeneration
@en
Disruption of CEP290 microtubule/membrane-binding domains causes retinal degeneration
@nl
prefLabel
Disruption of CEP290 microtubule/membrane-binding domains causes retinal degeneration
@ast
Disruption of CEP290 microtubule/membrane-binding domains causes retinal degeneration
@en
Disruption of CEP290 microtubule/membrane-binding domains causes retinal degeneration
@nl
P2093
P2860
P356
P1476
Disruption of CEP290 microtubule/membrane-binding domains causes retinal degeneration
@en
P2093
Erika L F Holzbaur
Jean Bennett
Theodore G Drivas
P2860
P304
P356
10.1172/JCI69448
P407
P577
2013-10-01T00:00:00Z