Identical mutation in a novel retinal gene causes progressive rod-cone degeneration in dogs and retinitis pigmentosa in humans

scientific article

Identical mutation in a novel retinal gene causes progressive rod-cone degeneration in dogs and retinitis pigmentosa in humans is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1016/J.YGENO.2006.07.007
P932PMC publication ID3989879
P698PubMed publication ID16938425
P5875ResearchGate publication ID6851110

P50authorAlexander S. GraphodatskyQ37378431
Edwin M. StoneQ37381855
Robert F. MullinsQ55272334
P2093author name stringAlisdair 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
P2860cites workGenome sequence, comparative analysis and haplotype structure of the domestic dogQ22122465
Linkage analysis and comparative mapping of canine progressive rod-cone degeneration (prcd) establishes potential locus homology with retinitis pigmentosa (RP17) in humansQ24685715
Comparative protein modelling by satisfaction of spatial restraintsQ27860866
Retinitis pigmentosa locus on 17q (RP17): fine localization to 17q22 and exclusion of the PDEG and TIMP2 genesQ28255595
SOX7 and SOX17 regulate the parietal endoderm-specific enhancer activity of mouse laminin alpha1 geneQ28509280
3D-Jury: a simple approach to improve protein structure predictionsQ29615989
Evaluation of comparative protein modeling by MODELLERQ29617322
Comparative protein structure modeling. Introduction and practical examples with modeller.Q30327500
Decreased opsin mRNA and immunoreactivity in progressive rod-cone degeneration (prcd): cytochemical studies of early disease and degenerationQ30416763
Construction and characterization of an eightfold redundant dog genomic bacterial artificial chromosome libraryQ30630955
Evolutionary parameters of the transcribed mammalian genome: an analysis of 2,820 orthologous rodent and human sequencesQ32046333
Development and characterization of a normalized canine retinal cDNA library for genomic and expression studiesQ33244636
Linkage disequilibrium mapping in domestic dog breeds narrows the progressive rod-cone degeneration interval and identifies ancestral disease-transmitting chromosomeQ37735223
A comparative chromosome map of the Arctic fox, red fox and dog defined by chromosome painting and high resolution G-bandingQ38496661
Physical and linkage mapping of human chromosome 17 loci to dog chromosomes 9 and 5.Q38504751
Crx, a novel otx-like homeobox gene, shows photoreceptor-specific expression and regulates photoreceptor differentiation.Q42834166
Radiation hybrid map, physical map, and low-pass genomic sequence of the canine prcd region on CFA9 and comparative mapping with the syntenic region on human chromosome 17.Q44349368
Immunolocalization of ciliary neurotrophic factor receptor alpha (CNTFRalpha) in mammalian photoreceptor cellsQ46435422
Analysis of prevalence of presumed inherited eye diseases in Entlebucher Mountain DogsQ46504328
Identification of microsatellite markers linked to progressive retinal atrophy in American Eskimo DogsQ46840586
Sox17 and beta-catenin cooperate to regulate the transcription of endodermal genesQ47428400
Structural changes of the interphotoreceptor matrix in an inherited retinal degeneration: a lectin cytochemical study of progressive rod-cone degeneration.Q52517088
Retinopathy and attenuated circadian entrainment in Crx-deficient mice.Q52537179
Variation in retinal degeneration phenotype inherited at the prcd locusQ67921992
Interphotoreceptor retinoid-binding protein (IRBP) in progressive rod-cone degeneration (prcd)--biochemical, immunocytochemical and immunologic studiesQ68036662
Nomarski evaluation of rod outer segment renewal in a hereditary retinal degeneration. Comparison with autoradiographic evaluationQ69060049
Morphological and biochemical studies of canine progressive rod-cone degeneration. 3H-fucose autoradiographyQ69490648
Isolation of DNA from biological specimens without extraction with phenolQ70044147
Progressive rod-cone degeneration in the dog: characterization of the visual pigmentQ70481915
Plasma lipid changes in PRCD-affected and normal miniature poodles given oral supplements of linseed oil. Indications for the involvement of n-3 fatty acids in inherited retinal degenerationsQ72361634
Pathogenesis of progressive rod-cone degeneration in miniature poodlesQ72767545
Differential expression of photoreceptor-specific proteins during disease and degeneration in the progressive rod-cone degeneration (prcd) retinaQ73707476
An analysis of allelic variation in the ABCA4 geneQ73819654
Diets enriched in docosahexaenoic acid fail to correct progressive rod-cone degeneration (prcd) phenotypeQ73820174
P433issue5
P407language of work or nameEnglishQ1860
P921main subjectretinitis pigmentosaQ847057
P304page(s)551-563
P577publication date2006-08-30
P1433published inGenomicsQ5533503
P1476titleIdentical mutation in a novel retinal gene causes progressive rod-cone degeneration in dogs and retinitis pigmentosa in humans
P478volume88

Reverse relations

cites work (P2860)
Q34981371A CNGB1 frameshift mutation in Papillon and Phalène dogs with progressive retinal atrophy
Q34105435A COLQ missense mutation in Labrador Retrievers having congenital myasthenic syndrome
Q33877378A Coding Variant in the Gene Bardet-Biedl Syndrome 4 (BBS4) Is Associated with a Novel Form of Canine Progressive Retinal Atrophy.
Q92815218A SIX6 Nonsense Variant in Golden Retrievers with Congenital Eye Malformations
Q93114261A comprehensive biomedical variant catalogue based on whole genome sequences of 582 dogs and eight wolves
Q21135317A frameshift mutation in golden retriever dogs with progressive retinal atrophy endorses SLC4A3 as a candidate gene for human retinal degenerations
Q34973721A large animal model for CNGB1 autosomal recessive retinitis pigmentosa
Q37146160A non-stop S-antigen gene mutation is associated with late onset hereditary retinal degeneration in dogs
Q34149777A novel form of progressive retinal atrophy in Swedish vallhund dogs
Q42879224A novel mutation in TTC8 is associated with progressive retinal atrophy in the golden retriever
Q90159827A putative silencer variant in a spontaneous canine model of retinitis pigmentosa
Q33952976A slowly progressive retinopathy in the Shetland Sheepdog
Q37346460AAV retinal transduction in a large animal model species: comparison of a self-complementary AAV2/5 with a single-stranded AAV2/5 vector.
Q35104863Altered miRNA expression in canine retinas during normal development and in models of retinal degeneration.
Q64077492An ABCA4 loss-of-function mutation causes a canine form of Stargardt disease
Q42522157An ADAM9 mutation in canine cone-rod dystrophy 3 establishes homology with human cone-rod dystrophy 9
Q38641705An intronic LINE-1 insertion in MERTK is strongly associated with retinopathy in Swedish Vallhund dogs.
Q33291736Analysis of six candidate genes as potential modifiers of disease expression in canine XLPRA1, a model for human X-linked retinitis pigmentosa 3
Q30834824Assessment of Rod, Cone, and Intrinsically Photosensitive Retinal Ganglion Cell Contributions to the Canine Chromatic Pupillary Response
Q34434212Assessment of canine BEST1 variations identifies new mutations and establishes an independent bestrophinopathy model (cmr3).
Q35894226Assessment of hereditary retinal degeneration in the English springer spaniel dog and disease relationship to an RPGRIP1 mutation
Q35910846Bestrophin gene mutations cause canine multifocal retinopathy: a novel animal model for best disease
Q36098265Breed relationships facilitate fine-mapping studies: a 7.8-kb deletion cosegregates with Collie eye anomaly across multiple dog breeds
Q104064500CCDC66 frameshift variant associated with a new form of early-onset progressive retinal atrophy in Portuguese Water Dogs
Q33488875CREB1/ATF1 activation in photoreceptor degeneration and protection
Q37119492Canine RD3 mutation establishes rod-cone dysplasia type 2 (rcd2) as ortholog of human and murine rd3.
Q33538067Canine morphology: hunting for genes and tracking mutations
Q61815870Changes in mutation frequency of eight Mendelian inherited disorders in eight pedigree dog populations following introduction of a commercial DNA test
Q36648600Clinical light exposure, photoreceptor degeneration, and AP-1 activation: a cell death or cell survival signal in the rhodopsin mutant retina?
Q37194577Comparative genomic mapping of uncharacterized canine retinal ESTs to identify novel candidate genes for hereditary retinal disorders.
Q35745619DNA testing and domestic dogs
Q30856794Development and use of DNA archives at veterinary teaching hospitals to investigate the genetic basis of disease in dogs
Q47131713Different allelic frequency of progressive rod-cone degeneration in two populations of Labrador Retrievers in Japan
Q38303717Dog Models for Blinding Inherited Retinal Degenerations
Q38351811Dog models for blinding inherited retinal dystrophies
Q46051365Eyes underground: regression of visual protein networks in subterranean mammals
Q36430269Fine mapping a locus controlling leg morphology in the domestic dog
Q34294115Franklin H. Epstein Lecture. Both ends of the leash--the human links to good dogs with bad genes
Q55313237Frequency and distribution of 152 genetic disease variants in over 100,000 mixed breed and purebred dogs.
Q33646440From caveman companion to medical innovator: genomic insights into the origin and evolution of domestic dogs
Q90567439Functional Genomics of the Retina to Elucidate its Construction and Deconstruction
Q28658209Genetic and phenotypic variations of inherited retinal diseases in dogs: the power of within- and across-breed studies
Q36938925Give a dog a genome
Q36869324Haplotype-defined linkage region for gPRA in Schapendoes dogs
Q36954771Identification of a novel mutation in the PRCD gene causing autosomal recessive retinitis pigmentosa in a Turkish family
Q34197079Identification of genetic variation and haplotype structure of the canine ABCA4 gene for retinal disease association studies
Q40377263Identification of putative SNPs in progressive retinal atrophy affected Canis lupus familiaris using exome sequencing
Q35527147Increased expression of MERTK is associated with a unique form of canine retinopathy
Q38539709Inherited retinal diseases in dogs: advances in gene/mutation discovery
Q36925839Investigation of SLA4A3 as a candidate gene for human retinal disease
Q33798619Leading the way: canine models of genomics and disease
Q37784661Lighting a candle in the dark: advances in genetics and gene therapy of recessive retinal dystrophies
Q37735223Linkage disequilibrium mapping in domestic dog breeds narrows the progressive rod-cone degeneration interval and identifies ancestral disease-transmitting chromosome
Q33540149Localization of canine brachycephaly using an across breed mapping approach
Q100761977Loss of PRCD alters number and packaging density of rhodopsin in rod photoreceptor disc membranes
Q36989961Loss of function mutations in RP1 are responsible for retinitis pigmentosa in consanguineous familial cases
Q28730686Man's best friend becomes biology's best in show: genome analyses in the domestic dog
Q35199099Normal clinical electroretinography parameters for poodle, Labrador retriever, Thai ridgeback, and Thai Bangkaew
Q28730421Origins of the domestic dog and the rich potential for gene mapping
Q92302038PRCD Is a Small Disc-Specific Rhodopsin-Binding Protein of Unknown Function
Q92688997PRCD is essential for high-fidelity photoreceptor disc formation
Q28854592Palmitoylation of Progressive Rod-Cone Degeneration (PRCD) Regulates Protein Stability and Localization
Q37101463Pathogenic mutations in TULP1 responsible for retinitis pigmentosa identified in consanguineous familial cases
Q51902261Patterns of molecular genetic variation among cat breeds.
Q37425238Phenotypic variation and genotype-phenotype discordance in canine cone-rod dystrophy with an RPGRIP1 mutation.
Q39504019Progressive Rod-Cone Degeneration (PRCD) Protein Requires N-Terminal S-Acylation and Rhodopsin Binding for Photoreceptor Outer Segment Localization and Maintaining Intracellular Stability.
Q43272208Progressive retinal atrophy in Schapendoes dogs: mutation of the newly identified CCDC66 gene
Q33322223Progressive retinal atrophy in the Border Collie: a new XLPRA.
Q46724083Progressive retinal atrophy in the Polski Owczarek Nizinny dog: a clinical and genetic study
Q28513607Proteomic identification of unique photoreceptor disc components reveals the presence of PRCD, a protein linked to retinal degeneration
Q40098546Real-time PCR genotyping assay for canine progressive rod-cone degeneration and mutant allele frequency in Toy Poodles, Chihuahuas and Miniature Dachshunds in Japan
Q36043162Regulation of presynaptic strength by controlling Ca2+ channel mobility: effects of cholesterol depletion on release at the cone ribbon synapse
Q26770321Retinal dystrophies, genomic applications in diagnosis and prospects for therapy
Q34442367Stage and gene specific signatures defined by histones H3K4me2 and H3K27me3 accompany mammalian retina maturation in vivo
Q26865005Stones in cats and dogs: What can be learnt from them?
Q21203578The Finnish lapphund retinal atrophy locus maps to the centromeric region of CFA9
Q34961635The domestic cat as a large animal model for characterization of disease and therapeutic intervention in hereditary retinal blindness
Q34495471The genetics of eye disorders in the dog
Q57933970The genetics of inherited retinal disorders in dogs: implications for diagnosis and management
Q48083204The retinal fascin gene 2 (FSCN2)--partial structural analysis and polymorphism detection in dogs with progressive retinal atrophy (PRA).
Q91849131The road less travelled: The efficacy of canine pluripotent stem cells
Q37458980The use of canine models of inherited retinal degeneration to test novel therapeutic approaches
Q42095728Topographical characterization of cone photoreceptors and the area centralis of the canine retina
Q40187215Toward the most ideal case-control design with related and unrelated dogs in whole-exome sequencing studies
Q34702209Transcriptional profile analysis of RPGRORF15 frameshift mutation identifies novel genes associated with retinal degeneration
Q36021334Understanding hereditary diseases using the dog and human as companion model systems
Q64910437Whole Genome Sequencing of Giant Schnauzer Dogs with Progressive Retinal Atrophy Establishes NECAP1 as a Novel Candidate Gene for Retinal Degeneration.

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