Different RPGR exon ORF15 mutations in Canids provide insights into photoreceptor cell degeneration.
about
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 CFA9RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosaRPGR-ORF15, which is mutated in retinitis pigmentosa, associates with SMC1, SMC3, and microtubule transport proteinsCanine retina has a primate fovea-like bouquet of cone photoreceptors which is affected by inherited macular degenerationsMultiprotein complexes of Retinitis Pigmentosa GTPase regulator (RPGR), a ciliary protein mutated in X-linked Retinitis Pigmentosa (XLRP).Ablation of retinal ciliopathy protein RPGR results in altered photoreceptor ciliary compositionInteraction of retinitis pigmentosa GTPase regulator (RPGR) with RAB8A GTPase: implications for cilia dysfunction and photoreceptor degenerationRpgrORF15 connects to the usher protein network through direct interactions with multiple whirlin isoformsGenetic and phenotypic variations of inherited retinal diseases in dogs: the power of within- and across-breed studiesStructural and functional plasticity of subcellular tethering, targeting and processing of RPGRIP1 by RPGR isoformsAssessment of Rod, Cone, and Intrinsically Photosensitive Retinal Ganglion Cell Contributions to the Canine Chromatic Pupillary ResponseAnalysis 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.A slowly progressive retinopathy in the Shetland Sheepdog.Photoreceptor cell death, proliferation and formation of hybrid rod/S-cone photoreceptors in the degenerating STK38L mutant retina.Long-term follow-up of a family with dominant X-linked retinitis pigmentosa.Rd9 is a naturally occurring mouse model of a common form of retinitis pigmentosa caused by mutations in RPGR-ORF15Microsatellite polymorphism and its association with body weight and selected morphometrics of farm red fox (Vulpes vulpes L.).Assessment of canine BEST1 variations identifies new mutations and establishes an independent bestrophinopathy model (cmr3).The genetics of eye disorders in the dogSuccessful arrest of photoreceptor and vision loss expands the therapeutic window of retinal gene therapy to later stages of disease.Transcriptional profile analysis of RPGRORF15 frameshift mutation identifies novel genes associated with retinal degeneration.Radiation hybrid mapping of cataract genes in the dog.The domestic cat as a large animal model for characterization of disease and therapeutic intervention in hereditary retinal blindness.A CNGB1 frameshift mutation in Papillon and Phalène dogs with progressive retinal atrophy.Recombinant AAV-mediated BEST1 transfer to the retinal pigment epithelium: analysis of serotype-dependent retinal effects.Gene augmentation for X-linked retinitis pigmentosa caused by mutations in RPGRUp-regulation of tumor necrosis factor superfamily genes in early phases of photoreceptor degenerationAltered miRNA expression in canine retinas during normal development and in models of retinal degeneration.Unique among ciliopathies: primary ciliary dyskinesia, a motile cilia disorder.Misexpression of the constitutive Rpgr(ex1-19) variant leads to severe photoreceptor degeneration.Inner retinal abnormalities in X-linked retinitis pigmentosa with RPGR mutations.Increased expression of MERTK is associated with a unique form of canine retinopathyGene therapy rescues photoreceptor blindness in dogs and paves the way for treating human X-linked retinitis pigmentosa.A long-term efficacy study of gene replacement therapy for RPGR-associated retinal degenerationAssessment of hereditary retinal degeneration in the English springer spaniel dog and disease relationship to an RPGRIP1 mutation.Photoreceptor proliferation and dysregulation of cell cycle genes in early onset inherited retinal degenerations.RPGR: Its role in photoreceptor physiology, human disease, and future therapies.
P2860
Q21135317-C86942F4-647A-4954-B23D-C1912B8A0DA8Q21203578-6430A85F-8AE4-4720-AD2C-A0FFECFFD54BQ24532214-8A6CE409-48DC-460D-9DDC-D9628919C0A2Q24533513-B0EF8A23-BC85-469D-8228-E254652C0E39Q27318310-709B743B-B7FE-41C6-A94D-7203E58C3542Q28114957-51D8B5CC-F14D-4D82-89D2-C4BF7856C07AQ28263322-728C7DA0-403C-40DB-A4E0-287EAD7609D4Q28287923-A9A17C0C-3602-4EC1-8C94-A9BE80EAEF2EQ28592463-CB8C9F8C-FC29-486A-9B08-C79991C943B3Q28658209-C89BE86E-0B2D-4935-944A-101B68DAFAB9Q30528634-48D05FED-38EE-4EE6-818A-BFBDA741F4A7Q30834824-1BFF6DDD-2B6C-4C66-8231-E268151F6DECQ33291736-D9C2EC8A-CE15-4931-B08A-C2604F5777BCQ33322223-91241E0F-B589-429B-BE21-79DE796FF3E0Q33488875-7D1D7CB6-938B-4452-8A4A-8F02C59EE891Q33952976-0B5BE31A-0D83-4820-A019-977BB803311AQ34042789-3A5CFE12-0D79-4DF0-9DC1-F6D736C21F43Q34062166-1BE135C0-2033-4823-889B-932A1A42C52FQ34260042-FF2C2EEA-C39D-40A9-A967-95E1EBC4215FQ34288606-74B3FC74-6081-4DDB-8636-8A59A3C2E0F9Q34434212-51EC94F4-BABA-4FF4-8B09-F9F3BEBF9196Q34495471-5F835AAD-E47E-485C-B18E-CA7479C6D513Q34497784-F3D07F28-9D52-40A6-8546-3ADDAC0C3894Q34702209-7AE5D759-5A2C-4CD3-8D3E-56537DE7B643Q34789948-9F4AC83C-FBED-4436-ACDA-19EEBCD2FE5FQ34961635-108E436E-348C-4448-A6C7-804824E81242Q34981371-B83CA813-6021-42AE-8059-754F2D3CDEFDQ35021596-977F30AE-E697-4F14-9682-13B0B0730470Q35045072-B7A986D5-5B0D-46C3-8D6B-FA24909F7460Q35075904-C94288BF-D05E-41AF-A456-4B41876547B2Q35104863-B3B86FD0-1AC9-44E4-AE8C-38C0A6D7E30EQ35210996-7D45C727-8772-4A11-9694-F1B3ACD69F0AQ35221335-3484EE61-AE34-4280-A992-3671E6304CF6Q35228749-1C5ADD5D-4443-4856-B1DB-0409AFBEAAB8Q35527147-3CD1F167-3205-47DC-AE7E-5D3064800E69Q35751018-783B4977-4D76-4860-A227-6630C1D2E2EDQ35766381-F60BC309-796E-4516-9206-363C50AD94A0Q35894226-E484D850-818A-4AC4-89F2-127EC8DDBA80Q35954761-2BC4422F-E196-4A8B-8B60-FCD056F20B2BQ36008733-F1ED5BF6-D5D2-4EF8-8575-E14431F4F7CE
P2860
Different RPGR exon ORF15 mutations in Canids provide insights into photoreceptor cell degeneration.
description
2002 nî lūn-bûn
@nan
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
@wuu
2002年论文
@zh
2002年论文
@zh-cn
name
Different RPGR exon ORF15 muta ...... otoreceptor cell degeneration.
@en
Different RPGR exon ORF15 muta ...... otoreceptor cell degeneration.
@nl
type
label
Different RPGR exon ORF15 muta ...... otoreceptor cell degeneration.
@en
Different RPGR exon ORF15 muta ...... otoreceptor cell degeneration.
@nl
prefLabel
Different RPGR exon ORF15 muta ...... otoreceptor cell degeneration.
@en
Different RPGR exon ORF15 muta ...... otoreceptor cell degeneration.
@nl
P2093
P356
P1476
Different RPGR exon ORF15 muta ...... otoreceptor cell degeneration.
@en
P2093
Alan F Wright
Brian Tulloch
Gregory M Acland
Gustavo D Aguirre
Jennifer L Johnson
Raf Vervoort
Sue Pearce-Kelling
P304
P356
10.1093/HMG/11.9.993
P577
2002-05-01T00:00:00Z