메뉴 건너뛰기




Volumn 52, Issue 10, 2011, Pages 7256-7266

174delG mutation in mouse MFRP causes photoreceptor degeneration and RPE atrophy

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATASE (POTASSIUM SODIUM); EZRIN; FRIZZLED PROTEIN; MEMBRANE TYPE FRIZZLED RELATED PROTEIN; RHODOPSIN; UNCLASSIFIED DRUG; EYE PROTEIN; MEMBRANE PROTEIN; MFRP PROTEIN, MOUSE;

EID: 80655148211     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.11-8112     Document Type: Article
Times cited : (37)

References (27)
  • 1
    • 0034810194 scopus 로고    scopus 로고
    • Molecular cloning and characterization of MFRP, a novel gene encoding a membrane-type Frizzled-related protein
    • Katoh M. Molecular cloning and characterization of MFRP, a novel gene encoding a membrane-type Frizzled-related protein. Biochem Biophys Res Commun. 2001;282:116-123.
    • (2001) Biochem Biophys Res Commun , vol.282 , pp. 116-123
    • Katoh, M.1
  • 2
  • 3
    • 20244379405 scopus 로고    scopus 로고
    • Retinal degeneration 6 (rd6): A new mouse model for human retinitis punctata albescens
    • Hawes NL, Chang B, Hageman GS, et al. Retinal degeneration 6 (rd6): a new mouse model for human retinitis punctata albescens. Invest Ophthalmol Vis Sci. 2000;41:3149-3157.
    • (2000) Invest Ophthalmol Vis Sci , vol.41 , pp. 3149-3157
    • Hawes, N.L.1    Chang, B.2    Hageman, G.S.3
  • 4
    • 22144451451 scopus 로고    scopus 로고
    • Extreme hyperopia is the result of null mutations in MFRP, which encodes a Frizzledrelated protein
    • Sundin OH, Leppert GS, Silva ED, et al. Extreme hyperopia is the result of null mutations in MFRP, which encodes a Frizzledrelated protein. Proc Natl Acad Sci U S A. 2005;102:9553-9558.
    • (2005) Proc Natl Acad Sci U S A , vol.102 , pp. 9553-9558
    • Sundin, O.H.1    Leppert, G.S.2    Silva, E.D.3
  • 5
    • 33845733173 scopus 로고    scopus 로고
    • A new autosomal recessive syndrome consisting of posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen is caused by a MFRP gene mutation
    • Ayala-Ramirez R, Graue-Wiechers F, Robredo V, Amato-Almanza M, Horta-Diez I, Zenteno JC. A new autosomal recessive syndrome consisting of posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen is caused by a MFRP gene mutation. Mol Vis. 2006;12:1483-1489.
    • (2006) Mol Vis , vol.12 , pp. 1483-1489
    • Ayala-Ramirez, R.1    Graue-Wiechers, F.2    Robredo, V.3    Amato-Almanza, M.4    Horta-Diez, I.5    Zenteno, J.C.6
  • 6
    • 47549087325 scopus 로고    scopus 로고
    • A novel mutation confirms MFRP as the gene causing the syndrome of nanophthalmos-retinitis pigmentosa-foveoschisis-optic disk drusen
    • Crespi J, Buil JA, Bassaganyas F, et al. A novel mutation confirms MFRP as the gene causing the syndrome of nanophthalmos-retinitis pigmentosa-foveoschisis-optic disk drusen. Am J Ophthalmol. 2008;146:323-328.
    • (2008) Am J Ophthalmol , vol.146 , pp. 323-328
    • Crespi, J.1    Buil, J.A.2    Bassaganyas, F.3
  • 7
    • 34248136923 scopus 로고    scopus 로고
    • Spatial and temporal expression of MFRP and its interaction with CTRP5
    • Mandal MN, Vasireddy V, Jablonski MM, et al. Spatial and temporal expression of MFRP and its interaction with CTRP5. Invest Ophthalmol Vis Sci. 2006;47:5514-5521.
    • (2006) Invest Ophthalmol Vis Sci , vol.47 , pp. 5514-5521
    • Mandal, M.N.1    Vasireddy, V.2    Jablonski, M.M.3
  • 8
    • 35348923714 scopus 로고    scopus 로고
    • The bone morphogenetic protein 1/Tolloid-like metalloproteinases
    • Hopkins DR, Keles S, Greenspan DS. The bone morphogenetic protein 1/Tolloid-like metalloproteinases. Matrix Biol. 2007;26: 508-523.
    • (2007) Matrix Biol , vol.26 , pp. 508-523
    • Hopkins, D.R.1    Keles, S.2    Greenspan, D.S.3
  • 9
    • 33745223817 scopus 로고    scopus 로고
    • Disease mechanisms in late-onset retinal macular degeneration associated with mutation in C1QTNF5
    • Shu X, Tulloch B, Lennon A, et al. Disease mechanisms in late-onset retinal macular degeneration associated with mutation in C1QTNF5. Hum Mol Genet. 2006;15:1680-1689.
    • (2006) Hum Mol Genet , vol.15 , pp. 1680-1689
    • Shu, X.1    Tulloch, B.2    Lennon, A.3
  • 10
    • 27244449177 scopus 로고    scopus 로고
    • Late-onset macular degeneration and long anterior lens zonules result from a CTRP5 gene mutation
    • Ayyagari R, Mandal MN, Karoukis AJ, et al. Late-onset macular degeneration and long anterior lens zonules result from a CTRP5 gene mutation. Invest Ophthalmol Vis Sci. 2005;46: 3363-3371.
    • (2005) Invest Ophthalmol Vis Sci , vol.46 , pp. 3363-3371
    • Ayyagari, R.1    Mandal, M.N.2    Karoukis, A.J.3
  • 11
    • 58149315989 scopus 로고    scopus 로고
    • Molecular, biochemical and functional characterizations of C1q/TNF family members: Adipose-tissue-selective expression patterns, regulation by PPAR-gamma agonist, cysteine-mediated oligomerizations, combinatorial associations and metabolic functions
    • Wong GW, Krawczyk SA, Kitidis-Mitrokostas C, Revett T, Gimeno R, Lodish HF. Molecular, biochemical and functional characterizations of C1q/TNF family members: adipose-tissue-selective expression patterns, regulation by PPAR-gamma agonist, cysteine-mediated oligomerizations, combinatorial associations and metabolic functions. Biochem J. 2008;416:161-177.
    • (2008) Biochem J , vol.416 , pp. 161-177
    • Wong, G.W.1    Krawczyk, S.A.2    Kitidis-Mitrokostas, C.3    Revett, T.4    Gimeno, R.5    Lodish, H.F.6
  • 12
    • 70350463858 scopus 로고    scopus 로고
    • C1q tumor necrosis factor alpharelated protein isoform 5 is increased in mitochondrial DNA-depleted myocytes and activates AMP-activated protein kinase
    • Park SY, Choi JH, Ryu HS, et al. C1q tumor necrosis factor alpharelated protein isoform 5 is increased in mitochondrial DNA-depleted myocytes and activates AMP-activated protein kinase. J Biol Chem. 2009;284:27780-27789.
    • (2009) J Biol Chem , vol.284 , pp. 27780-27789
    • Park, S.Y.1    Choi, J.H.2    Ryu, H.S.3
  • 13
    • 77954173916 scopus 로고    scopus 로고
    • Role of hepatocyte nuclear factor-4alpha in transcriptional regulation of C1qTNF-related protein 5 in the liver
    • Kim MJ, Lee W, Park EJ, Park SY. Role of hepatocyte nuclear factor-4alpha in transcriptional regulation of C1qTNF-related protein
    • (2010) FEBS Lett. , vol.584 , pp. 3080-3084
    • Kim, M.J.1    Lee, W.2    Park, E.J.3    Park, S.Y.4
  • 14
    • 51049113420 scopus 로고    scopus 로고
    • Membrane frizzled-related protein is necessary for the normal development and maintenance of photoreceptor outer segments
    • Won J, Smith RS, Peachey NS, et al. Membrane frizzled-related protein is necessary for the normal development and maintenance of photoreceptor outer segments. Vis Neurosci. 2008;25: 563-574.
    • (2008) Vis Neurosci , vol.25 , pp. 563-574
    • Won, J.1    Smith, R.S.2    Peachey, N.S.3
  • 15
    • 15744363978 scopus 로고    scopus 로고
    • Delayed dark adaptation in 11-cis-retinol dehydrogenase-deficient mice: A role of RDH11 in visual processes in vivo
    • Kim TS, Maeda A, Maeda T, et al. Delayed dark adaptation in 11-cis-retinol dehydrogenase-deficient mice: a role of RDH11 in visual processes in vivo. J Biol Chem. 2005;280:8694-8704.
    • (2005) J Biol Chem , vol.280 , pp. 8694-8704
    • Kim, T.S.1    Maeda, A.2    Maeda, T.3
  • 16
    • 0037187644 scopus 로고    scopus 로고
    • Massive light-driven translocation of transducin between the two major compartments of rod cells: A novel mechanism of light adaptation
    • Sokolov M, Lyubarsky AL, Strissel KJ, et al. Massive light-driven translocation of transducin between the two major compartments of rod cells: a novel mechanism of light adaptation. Neuron. 2002;34:95-106.
    • (2002) Neuron , vol.34 , pp. 95-106
    • Sokolov, M.1    Lyubarsky, A.L.2    Strissel, K.J.3
  • 17
    • 33644656566 scopus 로고    scopus 로고
    • Utilization of a whole genome SNP panel for efficient genetic mapping in the mouse
    • Moran JL, Bolton AD, Tran PV, et al. Utilization of a whole genome SNP panel for efficient genetic mapping in the mouse. Genome Res. 2006;16:436-440.
    • (2006) Genome Res , vol.16 , pp. 436-440
    • Moran, J.L.1    Bolton, A.D.2    Tran, P.V.3
  • 18
    • 17344392308 scopus 로고    scopus 로고
    • A new mathematical model for relative quantification in real-time RT-PCR
    • Pfaffl MW. A new mathematical model for relative quantification in real-time RT-PCR. Nucleic Acids Res. 2001;29:e45.
    • (2001) Nucleic Acids Res , vol.29
    • Pfaffl, M.W.1
  • 19
    • 11844259978 scopus 로고    scopus 로고
    • Loss of synchronized retinal phagocytosis and age-related blindness in mice lacking alphavbeta5 integrin
    • Nandrot EF, Kim Y, Brodie SE, Huang X, Sheppard D, Finnemann SC. Loss of synchronized retinal phagocytosis and age-related blindness in mice lacking alphavbeta5 integrin. J Exp Med. 2004;200:1539-1545.
    • (2004) J Exp Med , vol.200 , pp. 1539-1545
    • Nandrot, E.F.1    Kim, Y.2    Brodie, S.E.3    Huang, X.4    Sheppard, D.5    Finnemann, S.C.6
  • 20
    • 0033847103 scopus 로고    scopus 로고
    • Targeted disruption of the mPer3 gene: Subtle effects on circadian clock function
    • Shearman LP, Jin X, Lee C, Reppert SM, Weaver DR. Targeted disruption of the mPer3 gene: subtle effects on circadian clock function. Mol Cell Biol. 2000;20:6269-6275.
    • (2000) Mol Cell Biol , vol.20 , pp. 6269-6275
    • Shearman, L.P.1    Jin, X.2    Lee, C.3    Reppert, S.M.4    Weaver, D.R.5
  • 22
    • 66049162655 scopus 로고    scopus 로고
    • Execution of nonsense-mediated mRNA decay: What defines a substrate?
    • Rebbapragada I, Lykke-Andersen J. Execution of nonsense-mediated mRNA decay: what defines a substrate? Curr Opin Cell Biol. 2009;21:394-402.
    • (2009) Curr Opin Cell Biol , vol.21 , pp. 394-402
    • Rebbapragada, I.1    Lykke-Andersen, J.2
  • 23
    • 0035144779 scopus 로고    scopus 로고
    • The Rpe65 Leu450Met variation increases retinal resistance against light-induced degeneration by slowing rhodopsin regeneration
    • Wenzel A, Reme CE, Williams TP, Hafezi F, Grimm C. The Rpe65 Leu450Met variation increases retinal resistance against light-induced degeneration by slowing rhodopsin regeneration. J Neurosci. 2001;21:53-58.
    • (2001) J Neurosci , vol.21 , pp. 53-58
    • Wenzel, A.1    Reme, C.E.2    Williams, T.P.3    Hafezi, F.4    Grimm, C.5
  • 25
    • 34247145922 scopus 로고    scopus 로고
    • Homozygous deletion related to Alu repeats in RLBP1 causes retinitis punctata albescens
    • Humbert G, Delettre C, Senechal A, et al. Homozygous deletion related to Alu repeats in RLBP1 causes retinitis punctata albescens. Invest Ophthalmol Vis Sci. 2006;47:4719-4724.
    • (2006) Invest Ophthalmol Vis Sci , vol.47 , pp. 4719-4724
    • Humbert, G.1    Delettre, C.2    Senechal, A.3
  • 26
    • 77952303022 scopus 로고    scopus 로고
    • A detailed phenotypic assessment of individuals affected by MFRP-related oculopathy
    • Mukhopadhyay R, Sergouniotis PI, Mackay DS, et al. A detailed phenotypic assessment of individuals affected by MFRP-related oculopathy. Mol Vis. 2010;16:540-548.
    • (2010) Mol Vis , vol.16 , pp. 540-548
    • Mukhopadhyay, R.1    Sergouniotis, P.I.2    Mackay, D.S.3
  • 27
    • 29044441199 scopus 로고    scopus 로고
    • The mouse's eye and Mfrp: Not quite human
    • Sundin OH. The mouse's eye and Mfrp: not quite human. Ophthalmic Genet. 2005;26:153-155.
    • (2005) Ophthalmic Genet , vol.26 , pp. 153-155
    • Sundin, O.H.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.