메뉴 건너뛰기




Volumn 723, Issue , 2012, Pages 321-328

RPGRIP1 and cone-rod dystrophy in dogs

Author keywords

Cone Rod Dystrophy; Photoreceptor Cilia; Polymorphism; Protein Network; RPGRIP1

Indexed keywords

BINDING PROTEIN; GUANYLATE CYCLASE; RETINITIS PIGMENTOSA GTPASE INTERACTING PROTEIN 1; UNCLASSIFIED DRUG;

EID: 84855932258     PISSN: 00652598     EISSN: None     Source Type: Book Series    
DOI: 10.1007/978-1-4614-0631-0_42     Document Type: Conference Paper
Times cited : (4)

References (30)
  • 1
    • 33748515548 scopus 로고    scopus 로고
    • Models , mutants and man: Searching for unique phenotypes and genes in the dog model of inherited retinal degeneration
    • Ostrander EA, Giger U, Lindblad-Toh K (eds) Cold Spring Harbor, NY, Cold Spring Harbor Laboratory Press
    • Aguirre GD, Acland GM (2006) Models , Mutants and Man: Searching for Unique Phenotypes and Genes in the Dog Model of Inherited Retinal Degeneration. The Dog and Its Genome. In: Ostrander EA, Giger U, Lindblad-Toh K (eds). Cold Spring Harbor, NY, Cold Spring Harbor Laboratory Press : 291-325
    • (2006) The Dog and Its Genome , pp. 291-325
    • Aguirre, G.D.1    Acland, G.M.2
  • 2
    • 0042131538 scopus 로고    scopus 로고
    • RPGRIP1s with distinct neuronal localization and biochemical properties associate selectively with RanBP2 in amacrine neurons
    • DOI 10.1093/hmg/ddg202
    • Castagnet P, Mavlyutov T, Cai Y et al (2003) RPGRIP1s with distinct neuronal localization and biochemical properties associate selectively with RanBP2 in amacrine neurons. Hum Mol Genet 12: 1847-1863 (Pubitemid 36944139)
    • (2003) Human Molecular Genetics , vol.12 , Issue.15 , pp. 1847-1863
    • Castagnet, P.1    Mavlyutov, T.2    Cai, Y.3    Zhong, F.4    Ferreira, P.5
  • 4
    • 53949088669 scopus 로고    scopus 로고
    • Jouberin localizes to collecting ducts and interacts with nephrocystin-1
    • Eley L, Gabrielides C, Adams M et al (2008) Jouberin localizes to collecting ducts and interacts with nephrocystin-1. Kidney Int 74: 1139-1149
    • (2008) Kidney Int , vol.74 , pp. 1139-1149
    • Eley, L.1    Gabrielides, C.2    Adams, M.3
  • 5
    • 77955621176 scopus 로고    scopus 로고
    • ADAM9 mutation in Canine Cone-Rod Dystrophy 3 ( crd3) establishes homology with human CORD9
    • Goldstein O, Mezey JG, Boyko AR et al (2010) ADAM9 mutation in Canine Cone-Rod Dystrophy 3 ( crd3 ) establishes homology with human CORD9. Mol Vis 16: 1549-1569
    • (2010) Mol Vis , vol.16 , pp. 1549-1569
    • Goldstein, O.1    Mezey, J.G.2    Boyko, A.R.3
  • 9
    • 56049117628 scopus 로고    scopus 로고
    • CEP290 interacts with the centriolar satellite component PCM-1 and is required for Rab8 localization to the primary cilium
    • Kim J, Krishnaswami SR, Gleeson JG (2008) CEP290 interacts with the centriolar satellite component PCM-1 and is required for Rab8 localization to the primary cilium. Hum Mol Genet 17: 3796-3805
    • (2008) Hum Mol Genet , vol.17 , pp. 3796-3805
    • Kim, J.1    Krishnaswami, S.R.2    Gleeson, J.G.3
  • 10
    • 79955960559 scopus 로고    scopus 로고
    • Structural organization and expression pattern of the canine RPGRIP1 isoforms in retinal tissue
    • Kuznetsova T, Zangerl B, Goldstein O et al (2011) Structural organization and expression pattern of the canine RPGRIP1 isoforms in retinal tissue. Invest Ophthalmol Vis Sci 52: 2989-2998
    • (2011) Invest Ophthalmol Vis Sci , vol.52 , pp. 2989-2998
    • Kuznetsova, T.1    Zangerl, B.2    Goldstein, O.3
  • 12
    • 0036667989 scopus 로고    scopus 로고
    • Species-specifi c subcellular localization of RPGR and RPGRIP isoforms: Implications for the phenotypic variability of congenital retinopathies among species
    • Mavlyutov TA, Zhao H, Ferreira PA (2002) Species-specifi c subcellular localization of RPGR and RPGRIP isoforms: Implications for the phenotypic variability of congenital retinopathies among species. Hum Mol Genet 11: 1899-1907
    • (2002) Hum Mol Genet , vol.11 , pp. 1899-1907
    • Mavlyutov, T.A.1    Zhao, H.2    Ferreira, P.A.3
  • 14
    • 73449118966 scopus 로고    scopus 로고
    • Phenotypic variation and genotypephenotype discordance in canine cone-rod dystrophy with an RPGRIP1 mutation
    • Miyadera K, Kato K, Aguirre-Hernandez J et al (2009) Phenotypic variation and genotypephenotype discordance in canine cone-rod dystrophy with an RPGRIP1 mutation. Mol Vis 15: 2287-2305
    • (2009) Mol Vis , vol.15 , pp. 2287-2305
    • Miyadera, K.1    Kato, K.2    Aguirre-Hernandez, J.3
  • 15
    • 18644368159 scopus 로고    scopus 로고
    • The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin
    • Mollet G, Salomon R, Gribouval O et al (2002) The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin. Nat Genet 32: 300-305
    • (2002) Nat Genet , vol.32 , pp. 300-305
    • Mollet, G.1    Salomon, R.2    Gribouval, O.3
  • 16
    • 77955624077 scopus 로고    scopus 로고
    • Interaction of ciliary disease protein retinitis pigmentosa GTPase regulator with nephronophthisis-associated proteins in mammalian retinas
    • Murga-Zamalloa CA, Desai NJ, Hildebrandt F et al (2010) Interaction of ciliary disease protein retinitis pigmentosa GTPase regulator with nephronophthisis-associated proteins in mammalian retinas. Mol Vis 16: 1373-1381
    • (2010) Mol Vis , vol.16 , pp. 1373-1381
    • Murga-Zamalloa, C.A.1    Desai, N.J.2    Hildebrandt, F.3
  • 19
    • 38449090748 scopus 로고    scopus 로고
    • Protein networks and complexes in photoreceptor cilia
    • Roepman R, Wolfrum U (2007) Protein networks and complexes in photoreceptor cilia. Subcell Biochem 43: 209-235
    • (2007) Subcell Biochem , vol.43 , pp. 209-235
    • Roepman, R.1    Wolfrum, U.2
  • 21
    • 0034284508 scopus 로고    scopus 로고
    • The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors
    • Roepman R, Bernoud-Hubac N, Schick DE et al (2000) The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors. Hum Mol Genet 9: 2095-2105
    • (2000) Hum Mol Genet , vol.9 , pp. 2095-2105
    • Roepman, R.1    Bernoud-Hubac, N.2    Schick, D.E.3
  • 22
    • 33847092118 scopus 로고    scopus 로고
    • Clinical findings in early onset cone-rod dystrophy in the Standard Wire-haired Dachshund
    • DOI 10.1111/j.1463-5224.2007.00503.x
    • Ropstad EO, Bjerkas E, Narfstrom K (2007) Clinical fi ndings in early onset cone-rod dystrophy in the standard wire-haired dachshund. Vet Ophthalmol 10: 69-75 (Pubitemid 46279277)
    • (2007) Veterinary Ophthalmology , vol.10 , Issue.2 , pp. 69-75
    • Ropstad, E.O.1    Bjerkas, E.2    Narfstrom, K.3
  • 24
    • 43049179984 scopus 로고    scopus 로고
    • Centrins in retinal photoreceptor cells: Regulators in the connecting cilium
    • Trojan P, Krauss N, Choe HW et al (2008) Centrins in retinal photoreceptor cells: Regulators in the connecting cilium. Prog Retin Eye Res 27: 237-259
    • (2008) Prog Retin Eye Res , vol.27 , pp. 237-259
    • Trojan, P.1    Krauss, N.2    Choe, H.W.3
  • 25
    • 48549102438 scopus 로고    scopus 로고
    • CP110 suppresses primary cilia formation through its interaction with CEP290, a protein defi cient in human ciliary disease
    • Tsang WY, Bossard C, Khanna H et al (2008) CP110 suppresses primary cilia formation through its interaction with CEP290, a protein defi cient in human ciliary disease. Dev Cell 15: 187-197
    • (2008) Dev Cell , vol.15 , pp. 187-197
    • Tsang, W.Y.1    Bossard, C.2    Khanna, H.3
  • 27
    • 50649097717 scopus 로고    scopus 로고
    • A deletion in nephronophthisis 4 (NPHP4) is associated with recessive cone-rod dystrophy in standard wire-haired dachshund
    • Wiik AC, Wade C, Biagi T et al (2008) A deletion in nephronophthisis 4 (NPHP4) is associated with recessive cone-rod dystrophy in standard wire-haired dachshund. Genome Res 18: 1415-1421
    • (2008) Genome Res , vol.18 , pp. 1415-1421
    • Wiik, A.C.1    Wade, C.2    Biagi, T.3
  • 28
    • 70350697828 scopus 로고    scopus 로고
    • RPGRIP1 is essential for normal rod photoreceptor outer segment elaboration and morphogenesis
    • Won J, Gifford E, Smith RS et al (2009) RPGRIP1 is essential for normal rod photoreceptor outer segment elaboration and morphogenesis. Hum Mol Genet 18: 4329-4339
    • (2009) Hum Mol Genet , vol.18 , pp. 4329-4339
    • Won, J.1    Gifford, E.2    Smith, R.S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.