Structural organization and expression pattern of the canine RPGRIP1 isoforms in retinal tissue. - Wikidata - wikimedia - TriplyDB

Structural organization and expression pattern of the canine RPGRIP1 isoforms in retinal tissue.

Structural organization and expression pattern of the canine RPGRIP1 isoforms in retinal tissue.

http://www.wikidata.org/entity/Q35027483

about

RPGRIP1 and cone-rod dystrophy in dogs Successful gene therapy in the RPGRIP1-deficient dog: a large model of cone-rod dystrophy.Multiple mechanisms contribute to leakiness of a frameshift mutation in canine cone-rod dystrophy.Exclusion of RPGRIP1 ins44 from primary causal association with early-onset cone-rod dystrophy in dogs.Dog models for blinding inherited retinal dystrophies Whole exome sequencing using Ion Proton system enables reliable genetic diagnosis of inherited retinal dystrophies.Variabilities in retinal function and structure in a canine model of cone-rod dystrophy associated with RPGRIP1 support multigenic etiology.

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P2860

Structural organization and expression pattern of the canine RPGRIP1 isoforms in retinal tissue.

http://www.wikidata.org/entity/Q35027483

description

2011 nî lūn-bûn

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2011 թուականի Մայիսին հրատարակուած գիտական յօդուած

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2011 թվականի մայիսին հրատարակված գիտական հոդված

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2011年の論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

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Structural organization and ex ...... P1 isoforms in retinal tissue.

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Structural organization and ex ...... P1 isoforms in retinal tissue.

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Structural organization and ex ...... P1 isoforms in retinal tissue.

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Structural organization and ex ...... P1 isoforms in retinal tissue.

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Structural organization and ex ...... P1 isoforms in retinal tissue.

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Structural organization and ex ...... P1 isoforms in retinal tissue.

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Investigative Ophthalmology & Visual Science

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Structural organization and ex ...... P1 isoforms in retinal tissue.

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Barbara Zangerl

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Gregory M Acland

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Gustavo D Aguirre

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Orly Goldstein

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Tatyana Kuznetsova

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P2860

RPGR ORF15 isoform co-localizes with RPGRIP1 at centrioles and basal bodies and interacts with nucleophosmin

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

Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.

Null RPGRIP1 alleles in patients with Leber congenital amaurosis.

Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations.

Splicing regulation: from a parts list of regulatory elements to an integrated splicing code

Limited proteolysis differentially modulates the stability and subcellular localization of domains of RPGRIP1 that are distinctly affected by mutations in Leber's congenital amaurosis

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

Identification of mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 genes in patients with juvenile retinitis pigmentosa

Evidence of RPGRIP1 gene mutations associated with recessive cone-rod dystrophy

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2989-2998

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scholarly article

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10.1167/IOVS.10-6094

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6

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52

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2011-05-06T00:00:00Z

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49799633

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21282582

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3109012

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