Multiple mechanisms contribute to leakiness of a frameshift mutation in canine cone-rod dystrophy. - Wikidata - awgldk - TriplyDB

Multiple mechanisms contribute to leakiness of a frameshift mutation in canine cone-rod dystrophy.

Multiple mechanisms contribute to leakiness of a frameshift mutation in canine cone-rod dystrophy.

http://www.wikidata.org/entity/Q34516963

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Ribosomal frameshifting and transcriptional slippage: From genetic steganography and cryptography to adventitious use Successful gene therapy in the RPGRIP1-deficient dog: a large model of cone-rod dystrophy.An Intronic SINE insertion in FAM161A that causes exon-skipping is associated with progressive retinal atrophy in Tibetan Spaniels and Tibetan Terriers Variabilities in retinal function and structure in a canine model of cone-rod dystrophy associated with RPGRIP1 support multigenic etiology.Canine genome assembly correction facilitates identification of a MAP9 deletion as a potential age of onset modifier for RPGRIP1-associated canine retinal degeneration.

P2860

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Multiple mechanisms contribute to leakiness of a frameshift mutation in canine cone-rod dystrophy.

http://www.wikidata.org/entity/Q34516963

description

2012 nî lūn-bûn

@nan

2012 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած

@hyw

2012 թվականի դեկտեմբերին հրատարակված գիտական հոդված

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2012年の論文

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2012年論文

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2012年論文

@zh-hant

2012年論文

@zh-hk

2012年論文

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2012年論文

@zh-tw

2012年论文

@wuu

name

Multiple mechanisms contribute ...... in canine cone-rod dystrophy.

@ast

Multiple mechanisms contribute ...... in canine cone-rod dystrophy.

@en

Multiple mechanisms contribute ...... in canine cone-rod dystrophy.

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type

label

Multiple mechanisms contribute ...... in canine cone-rod dystrophy.

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Multiple mechanisms contribute ...... in canine cone-rod dystrophy.

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Multiple mechanisms contribute ...... in canine cone-rod dystrophy.

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Multiple mechanisms contribute ...... in canine cone-rod dystrophy.

@ast

Multiple mechanisms contribute ...... in canine cone-rod dystrophy.

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Multiple mechanisms contribute ...... in canine cone-rod dystrophy.

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Multiple mechanisms contribute ...... in canine cone-rod dystrophy.

@en

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Cathryn S Mellersh

http://www.w3.org/2001/XMLSchema#string

Ian Brierley

http://www.w3.org/2001/XMLSchema#string

Jesús Aguirre-Hernández

http://www.w3.org/2001/XMLSchema#string

Keiko Miyadera

http://www.w3.org/2001/XMLSchema#string

P2860

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.

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

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

Homopolymer tract length dependent enrichments in functional regions of 27 eukaryotes and their novel dependence on the organism DNA (G+C)% composition

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

Simple sequences

Retinitis pigmentosa GTPase regulator (RPGRr)-interacting protein is stably associated with the photoreceptor ciliary axoneme and anchors RPGR to the connecting cilium

Identification of a novel protein interacting with RPGR.

Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis.

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scholarly article

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10.1371/JOURNAL.PONE.0051598

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3520932

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