Identical mutation in a novel retinal gene causes progressive rod-cone degeneration in dogs and retinitis pigmentosa in humans.
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A frameshift mutation in golden retriever dogs with progressive retinal atrophy endorses SLC4A3 as a candidate gene for human retinal degenerationsThe Finnish lapphund retinal atrophy locus maps to the centromeric region of CFA9Retinal dystrophies, genomic applications in diagnosis and prospects for therapyStones in cats and dogs: What can be learnt from them?Proteomic identification of unique photoreceptor disc components reveals the presence of PRCD, a protein linked to retinal degenerationGenetic and phenotypic variations of inherited retinal diseases in dogs: the power of within- and across-breed studiesOrigins of the domestic dog and the rich potential for gene mappingMan's best friend becomes biology's best in show: genome analyses in the domestic dogPalmitoylation of Progressive Rod-Cone Degeneration (PRCD) Regulates Protein Stability and LocalizationAssessment of Rod, Cone, and Intrinsically Photosensitive Retinal Ganglion Cell Contributions to the Canine Chromatic Pupillary ResponseDevelopment and use of DNA archives at veterinary teaching hospitals to investigate the genetic basis of disease in dogsAnalysis of six candidate genes as potential modifiers of disease expression in canine XLPRA1, a model for human X-linked retinitis pigmentosa 3Progressive retinal atrophy in the Border Collie: a new XLPRA.CREB1/ATF1 activation in photoreceptor degeneration and protection.Canine morphology: hunting for genes and tracking mutationsLocalization of canine brachycephaly using an across breed mapping approach.From caveman companion to medical innovator: genomic insights into the origin and evolution of domestic dogs.Leading the way: canine models of genomics and diseaseA Coding Variant in the Gene Bardet-Biedl Syndrome 4 (BBS4) Is Associated with a Novel Form of Canine Progressive Retinal Atrophy.A slowly progressive retinopathy in the Shetland Sheepdog.A COLQ missense mutation in Labrador Retrievers having congenital myasthenic syndrome.A novel form of progressive retinal atrophy in Swedish vallhund dogsIdentification of genetic variation and haplotype structure of the canine ABCA4 gene for retinal disease association studiesFranklin H. Epstein Lecture. Both ends of the leash--the human links to good dogs with bad genes.Assessment of canine BEST1 variations identifies new mutations and establishes an independent bestrophinopathy model (cmr3).Stage and gene specific signatures defined by histones H3K4me2 and H3K27me3 accompany mammalian retina maturation in vivo.The genetics of eye disorders in the dogTranscriptional profile analysis of RPGRORF15 frameshift mutation identifies novel genes associated with retinal degeneration.The domestic cat as a large animal model for characterization of disease and therapeutic intervention in hereditary retinal blindness.A large animal model for CNGB1 autosomal recessive retinitis pigmentosa.A CNGB1 frameshift mutation in Papillon and Phalène dogs with progressive retinal atrophy.Altered miRNA expression in canine retinas during normal development and in models of retinal degeneration.Normal clinical electroretinography parameters for poodle, Labrador retriever, Thai ridgeback, and Thai Bangkaew.Increased expression of MERTK is associated with a unique form of canine retinopathyDNA testing and domestic dogsAssessment of hereditary retinal degeneration in the English springer spaniel dog and disease relationship to an RPGRIP1 mutation.Bestrophin gene mutations cause canine multifocal retinopathy: a novel animal model for best diseaseUnderstanding hereditary diseases using the dog and human as companion model systems.Regulation of presynaptic strength by controlling Ca2+ channel mobility: effects of cholesterol depletion on release at the cone ribbon synapseBreed relationships facilitate fine-mapping studies: a 7.8-kb deletion cosegregates with Collie eye anomaly across multiple dog breeds.
P2860
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P2860
Identical mutation in a novel retinal gene causes progressive rod-cone degeneration in dogs and retinitis pigmentosa in humans.
description
2006 nî lūn-bûn
@nan
2006 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
name
Identical mutation in a novel ...... etinitis pigmentosa in humans.
@ast
Identical mutation in a novel ...... etinitis pigmentosa in humans.
@en
Identical mutation in a novel ...... etinitis pigmentosa in humans.
@nl
type
label
Identical mutation in a novel ...... etinitis pigmentosa in humans.
@ast
Identical mutation in a novel ...... etinitis pigmentosa in humans.
@en
Identical mutation in a novel ...... etinitis pigmentosa in humans.
@nl
prefLabel
Identical mutation in a novel ...... etinitis pigmentosa in humans.
@ast
Identical mutation in a novel ...... etinitis pigmentosa in humans.
@en
Identical mutation in a novel ...... etinitis pigmentosa in humans.
@nl
P2093
P2860
P50
P1433
P1476
Identical mutation in a novel ...... etinitis pigmentosa in humans.
@en
P2093
Alisdair R Philp
Barbara Zangerl
Daniel Ripoll
Gregory M Acland
Gustavo D Aguirre
Jeanette S Felix
Orly Goldstein
Sarah J P Lindauer
Susan E Pearce-Kelling
P2860
P304
P356
10.1016/J.YGENO.2006.07.007
P577
2006-08-30T00:00:00Z