Identification of novel murine- and human-specific RPGRIP1 splice variants with distinct expression profiles and subcellular localization - Wikidata - wikimedia - TriplyDB

Identification of novel murine- and human-specific RPGRIP1 splice variants with distinct expression profiles and subcellular localization

Identification of novel murine- and human-specific RPGRIP1 splice variants with distinct expression profiles and subcellular localization

http://www.wikidata.org/entity/Q24673320

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Evidence for RPGRIP1 gene as risk factor for primary open angle glaucoma Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations.Limited proteolysis differentially modulates the stability and subcellular localization of domains of RPGRIP1 that are distinctly affected by mutations in Leber's congenital amaurosis Genome-wide transcriptome analysis in murine neural retina using high-throughput RNA sequencing.Replacement gene therapy with a human RPGRIP1 sequence slows photoreceptor degeneration in a murine model of Leber congenital amaurosis.Multiple mechanisms contribute to leakiness of a frameshift mutation in canine cone-rod dystrophy.Structural organization and expression pattern of the canine RPGRIP1 isoforms in retinal tissue.Leber congenital amaurosis caused by mutations in RPGRIP1.Genomic abnormalities of the murine model of Fabry disease after disease-related perturbation, a systems biology approach.Selective loss of RPGRIP1-dependent ciliary targeting of NPHP4, RPGR and SDCCAG8 underlies the degeneration of photoreceptor neurons Insights into X-linked retinitis pigmentosa type 3, allied diseases and underlying pathomechanisms Retinitis Pigmentosa GTPase Regulator (RPGR) protein isoforms in mammalian retina: insights into X-linked Retinitis Pigmentosa and associated ciliopathies.From vivarium to bedside: lessons learned from animal models.RPGRIP1 is essential for normal rod photoreceptor outer segment elaboration and morphogenesis.Species-dependent splice recognition of a cryptic exon resulting from a recurrent intronic CEP290 mutation that causes congenital blindness.Whole exome sequencing using Ion Proton system enables reliable genetic diagnosis of inherited retinal dystrophies.Leber congenital amaurosis/early-onset severe retinal dystrophy: clinical features, molecular genetics and therapeutic interventions.Mouse models of human ocular disease for translational research.Cell type-specific regulation of ciliary transition zone assembly in vertebrates.

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Identification of novel murine- and human-specific RPGRIP1 splice variants with distinct expression profiles and subcellular localization

http://www.wikidata.org/entity/Q24673320

description

2005 nî lūn-bûn

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2005 թուականի Յունիսին հրատարակուած գիտական յօդուած

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Identification of novel murine ...... s and subcellular localization

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Identification of novel murine ...... s and subcellular localization

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Identification of novel murine ...... s and subcellular localization

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Investigative Ophthalmology & Visual Science

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Identification of novel murine ...... s and subcellular localization

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Paulo A Ferreira

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Xinrong Lu

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P2860

Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis

Species-specific subcellular localization of RPGR and RPGRIP isoforms: implications for the phenotypic variability of congenital retinopathies among species

Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene

Null RPGRIP1 alleles in patients with Leber congenital amaurosis.

Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis

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

The targeting of Lamp1 to lysosomes is dependent on the spacing of its cytoplasmic tail tyrosine sorting motif relative to the membrane

RPGR transcription studies in mouse and human tissues reveal a retina-specific isoform that is disrupted in a patient with X-linked retinitis pigmentosa

Identification of novel RPGR (retinitis pigmentosa GTPase regulator) mutations in a subset of X-linked retinitis pigmentosa families segregating with the RP3 locus

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

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1882-90

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scholarly article

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10.1167/IOVS.04-1286

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6

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46

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15914599

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1769349

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