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The Role of the Endothelin System in the Vascular Dysregulation Involved in Retinitis PigmentosaSynaptic remodeling of neuronal circuits in early retinal degenerationEvolutionary conservation and expression of human RNA-binding proteins and their role in human genetic diseaseAdvancing therapeutic strategies for inherited retinal degeneration: recommendations from the Monaciano SymposiumPrp8 retinitis pigmentosa mutants cause defects in the transition between the catalytic steps of splicing.Bile Acids in Neurodegenerative DisordersReview: the history and role of naturally occurring mouse models with Pde6b mutationsNew method to assess mitophagy flux by flow cytometryAnimals deficient in C2Orf71, an autosomal recessive retinitis pigmentosa-associated locus, develop severe early-onset retinal degenerationTreatment of retinitis pigmentosa due to MERTK mutations by ocular subretinal injection of adeno-associated virus gene vector: results of a phase I trial.Long-term preservation of cone photoreceptors and visual acuity in rd10 mutant mice exposed to continuous environmental enrichment.arrEYE: a customized platform for high-resolution copy number analysis of coding and noncoding regions of known and candidate retinal dystrophy genes and retinal noncoding RNAs.Peripherin-2 and Rom-1 have opposing effects on rod outer segment targeting of retinitis pigmentosa-linked peripherin-2 mutants.Mutations in spliceosomal proteins and retina degenerationThe use of induced pluripotent stem cells to reveal pathogenic gene mutations and explore treatments for retinitis pigmentosa.'RetinoGenetics': a comprehensive mutation database for genes related to inherited retinal degenerationMutational screening of splicing factor genes in cases with autosomal dominant retinitis pigmentosaProteomic profiling of early degenerative retina of RCS rats.A novel form of progressive retinal atrophy in Swedish vallhund dogsSevere retinal degeneration in women with a c.2543del mutation in ORF15 of the RPGR geneNew syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11.Molecular architecture of photoreceptor phosphodiesterase elucidated by chemical cross-linking and integrative modelingExome sequencing reveals novel and recurrent mutations with clinical significance in inherited retinal dystrophiesExtended duration of transgene expression from pegylated POD nanoparticles enables attenuation of photoreceptor degeneration.Exclusion of the unfolded protein response in light-induced retinal degeneration in the canine T4R RHO model of autosomal dominant retinitis pigmentosa.Personalized therapeutic strategies for patients with retinitis pigmentosa.NRF2 promotes neuronal survival in neurodegeneration and acute nerve damage.Glycosylation of rhodopsin is necessary for its stability and incorporation into photoreceptor outer segment discs.The efficacy of microarray screening for autosomal recessive retinitis pigmentosa in routine clinical practicePersonalized biochemistry and biophysics.Impact of reduced rhodopsin expression on the structure of rod outer segment disc membranesThe diagnostic application of targeted re-sequencing in Korean patients with retinitis pigmentosaImpaired Mitochondrial Energy Production Causes Light-Induced Photoreceptor Degeneration Independent of Oxidative Stress.Application of Whole Exome Sequencing in Six Families with an Initial Diagnosis of Autosomal Dominant Retinitis Pigmentosa: Lessons Learned.Transcriptional regulation of nucleoredoxin-like genes takes place on a daily basis in the retina and pineal gland of rats.Investigating the Molecular Basis of Retinal Degeneration in a Familial Cohort of Pakistani Decent by Exome Sequencing.AAV-mediated RLBP1 gene therapy improves the rate of dark adaptation in Rlbp1 knockout miceA novel disorder reveals clathrin heavy chain-22 is essential for human pain and touch development.microRNAs and inherited retinal dystrophies.De Novo Occurrence of a Variant in ARL3 and Apparent Autosomal Dominant Transmission of Retinitis Pigmentosa
P2860
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P2860
description
2013 nî lūn-bûn
@nan
2013 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի հունիսին 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
Genes and mutations causing retinitis pigmentosa.
@ast
Genes and mutations causing retinitis pigmentosa.
@en
Genes and mutations causing retinitis pigmentosa.
@nl
type
label
Genes and mutations causing retinitis pigmentosa.
@ast
Genes and mutations causing retinitis pigmentosa.
@en
Genes and mutations causing retinitis pigmentosa.
@nl
prefLabel
Genes and mutations causing retinitis pigmentosa.
@ast
Genes and mutations causing retinitis pigmentosa.
@en
Genes and mutations causing retinitis pigmentosa.
@nl
P2860
P356
P1433
P1476
Genes and mutations causing retinitis pigmentosa.
@en
P2093
L S Sullivan
P2860
P304
P356
10.1111/CGE.12203
P577
2013-06-19T00:00:00Z