메뉴 건너뛰기




Volumn 5, Issue 5, 2015, Pages

Stem cells as tools for studying the genetics of inherited retinal degenerations

Author keywords

[No Author keywords available]

Indexed keywords

AGE RELATED MACULAR DEGENERATION; ARTICLE; DISEASE PREDISPOSITION; GENE MUTATION; GENETIC ANALYSIS; HUMAN; PATHOPHYSIOLOGY; PLURIPOTENT STEM CELL; RETINA DEGENERATION; RETINITIS PIGMENTOSA; STARGARDT DISEASE; STEM CELL; STEM CELL TRANSPLANTATION; VITELLIFORM MACULAR DEGENERATION; BIOLOGICAL THERAPY; GENE THERAPY; GENETICS; MUTATION; QUALITY OF LIFE; RETINAL DEGENERATION; TRANSPLANTATION;

EID: 84930505333     PISSN: None     EISSN: 21571422     Source Type: Journal    
DOI: 10.1101/cshperspect.a017160     Document Type: Article
Times cited : (11)

References (60)
  • 3
    • 84878628257 scopus 로고    scopus 로고
    • The gene therapy revolution in oph- thalmology
    • Al-Saikhan FI. 2013. The gene therapy revolution in oph- thalmology. Saudi J Ophthalmol 27: 107-111
    • (2013) Saudi J Ophthalmol , vol.27 , pp. 107-111
    • Al-Saikhan, F.I.1
  • 8
    • 84873411625 scopus 로고    scopus 로고
    • Subretinal drusenoid deposits in non-neovascular age-related macular degeneration: Mor- phology, prevalence, topography, and biogenesis model
    • Curcio CA, Messinger JD, Sloan KR, McGwin G, Medeiros NE, Spaide RF. 2013. Subretinal drusenoid deposits in non-neovascular age-related macular degeneration: Mor- phology, prevalence, topography, and biogenesis model. Retina 33: 265-276
    • (2013) Retina , vol.33 , pp. 265-276
    • Curcio, C.A.1    Messinger, J.D.2    Sloan, K.R.3    McGwin, G.4    Medeiros, N.E.5    Spaide, R.F.6
  • 9
    • 0015231945 scopus 로고
    • Role of the pericorneal pap- illary structure in renewal of corneal epithelium
    • Davanger M, Evensen A. 1971. Role of the pericorneal pap- illary structure in renewal of corneal epithelium. Nature 229: 560-561
    • (1971) Nature , vol.229 , pp. 560-561
    • Davanger, M.1    Evensen, A.2
  • 13
    • 84883448269 scopus 로고    scopus 로고
    • Optogenetics, visual prosthesis and electrostimulation for retinal dystrophies
    • Garg SJ, Federman J. 2013. Optogenetics, visual prosthesis and electrostimulation for retinal dystrophies. Curr Opin Ophthalmol 24: 407-414
    • (2013) Curr Opin Ophthalmol , vol.24 , pp. 407-414
    • Garg, S.J.1    Federman, J.2
  • 14
    • 0015816276 scopus 로고
    • Drusen and disciform macular detachment and degeneration
    • Gass JD. 1973. Drusen and disciform macular detachment and degeneration. Arch Ophthalmol 90: 206-217
    • (1973) Arch Ophthalmol , vol.90 , pp. 206-217
    • Gass, J.D.1
  • 15
    • 84863716162 scopus 로고    scopus 로고
    • Genetic insights into age-related macular degeneration: Controversies addressing risk, causality, and therapeutics
    • Gorin MB. 2012. Genetic insights into age-related macular degeneration: Controversies addressing risk, causality, and therapeutics. Mol Aspects Med 33: 467-486
    • (2012) Mol Aspects Med , vol.33 , pp. 467-486
    • Gorin, M.B.1
  • 16
    • 33847153137 scopus 로고    scopus 로고
    • Extended haplotypes in the complement factor H (CFH) and CFH-related (CFHR) family of genes protect against age-related macular de- generation: Characterization, ethnic distribution and evolutionary implications
    • Hageman GS, Hancox LS, Taiber AJ, Gehrs KM, Anderson DH, Johnson LV, Radeke MJ, Kavanagh D, Richards A, Atkinson J, et al. 2006. Extended haplotypes in the complement factor H (CFH) and CFH-related (CFHR) family of genes protect against age-related macular de- generation: Characterization, ethnic distribution and evolutionary implications. Ann Med 38: 592-604
    • (2006) Ann Med , vol.38 , pp. 592-604
    • Hageman, G.S.1    Hancox, L.S.2    Taiber, A.J.3    Gehrs, K.M.4    Erson, D.H.5    Johnson, L.V.6    Radeke, M.J.7    Kavanagh, D.8    Richards, A.9    Atkinson, J.10
  • 23
    • 0035699547 scopus 로고    scopus 로고
    • Complement activation and inflammatory processes in drusen formation and age related macular degeneration
    • Johnson LV, Leitner WP, Staples MK, Anderson DH. 2001. Complement activation and inflammatory processes in drusen formation and age related macular degeneration. Exp Eye Res 73: 887-896
    • (2001) Exp Eye Res , vol.73 , pp. 887-896
    • Johnson, L.V.1    Leitner, W.P.2    Staples, M.K.3    Erson, D.H.4
  • 24
    • 84871519181 scopus 로고    scopus 로고
    • TALENs: A widely applicable technology for targeted genome editing
    • Joung JK, Sander JD. 2013. TALENs: A widely applicable technology for targeted genome editing. Nat Rev Mol Cell Biol 14: 49-55
    • (2013) Nat Rev Mol Cell Biol , vol.14 , pp. 49-55
    • Joung, J.K.1    Sander, J.D.2
  • 26
    • 84873333444 scopus 로고    scopus 로고
    • Genetic mechanisms and age-related macular degeneration: Common variants, rare variants, copy number variations, epigenetics, and mitochondrial genetics
    • Liu MM, Chan C-C, Tuo J. 2012. Genetic mechanisms and age-related macular degeneration: Common variants, rare variants, copy number variations, epigenetics, and mitochondrial genetics. Hum Genomics 6: 13
    • (2012) Hum Genomics , vol.6 , pp. 13
    • Liu, M.M.1    Chan, C.-C.2    Tuo, J.3
  • 28
    • 84875138677 scopus 로고    scopus 로고
    • Gene therapy for retinal disease
    • McClements ME, MacLaren RE. 2013. Gene therapy for retinal disease. Transl Res 161: 241-254
    • (2013) Transl Res , vol.161 , pp. 241-254
    • McClements, M.E.1    Maclaren, R.E.2
  • 30
    • 0034012166 scopus 로고    scopus 로고
    • Drusen associated with aging and age-related macular degeneration contain proteins common to extracellular deposits associated with atherosclerosis, elastosis, amy- loidosis, and dense deposit disease
    • Mullins RF, Russell SR, Anderson DH, Hageman GS. 2000. Drusen associated with aging and age-related macular degeneration contain proteins common to extracellular deposits associated with atherosclerosis, elastosis, amy- loidosis, and dense deposit disease. FASEB J 14: 835-846
    • (2000) FASEB J , vol.14 , pp. 835-846
    • Mullins, R.F.1    Russell, S.R.2    Erson, D.H.3    Hageman, G.S.4
  • 31
    • 0034954060 scopus 로고    scopus 로고
    • Structure and composition of drusen associated with glomerulone- phritis: Implications for the role of complement activa- tion in drusen biogenesis
    • Mullins RF, Aptsiauri N, Hageman GS. 2001. Structure and composition of drusen associated with glomerulone- phritis: Implications for the role of complement activa- tion in drusen biogenesis. Eye (Lond) 15: 390-395
    • (2001) Eye (Lond) , vol.15 , pp. 390-395
    • Mullins, R.F.1    Aptsiauri, N.2    Hageman, G.S.3
  • 32
    • 80055063162 scopus 로고    scopus 로고
    • Elevated membrane attack complex in human choroid with high risk complement factor H ge- notypes
    • Mullins RF, Dewald AD, Streb LM, Wang K, Kuehn MH, Stone EM. 2011. Elevated membrane attack complex in human choroid with high risk complement factor H ge- notypes. Exp Eye Res 93: 565-567
    • (2011) Exp Eye Res , vol.93 , pp. 565-567
    • Mullins, R.F.1    Dewald, A.D.2    Streb, L.M.3    Wang, K.4    Kuehn, M.H.5    Stone, E.M.6
  • 33
    • 84884655331 scopus 로고    scopus 로고
    • Targeting neurons and photons for optogenetics
    • Packer AM, Roska B, Häusser M. 2013. Targeting neurons and photons for optogenetics. Nat Neurosci 16: 805-815
    • (2013) Nat Neurosci , vol.16 , pp. 805-815
    • Packer, A.M.1    Roska, B.2    Häusser, M.3
  • 34
    • 84870723784 scopus 로고    scopus 로고
    • Genetic studies of age- related macular degeneration: Lessons, challenges, and opportunities for disease management
    • Priya RR, Chew EY, Swaroop A. 2012. Genetic studies of age- related macular degeneration: Lessons, challenges, and opportunities for disease management. Ophthalmology 119: 2526-2536
    • (2012) Ophthalmology , vol.119 , pp. 2526-2536
    • Priya, R.R.1    Chew, E.Y.2    Swaroop, A.3
  • 35
    • 84863304501 scopus 로고    scopus 로고
    • ABCA4 is an N-retinylidene-phosphatidylethanolamine and phosphati- dylethanolamine importer
    • Quazi F, Lenevich S, Molday RS. 2012. ABCA4 is an N-retinylidene-phosphatidylethanolamine and phosphati- dylethanolamine importer. Nat Commun 3: 925
    • (2012) Nat Commun , vol.3 , pp. 925
    • Quazi, F.1    Lenevich, S.2    Molday, R.S.3
  • 37
    • 27744462212 scopus 로고    scopus 로고
    • Hypothetical LOC387715 is a second major susceptibility gene for age-related mac- ular degeneration, contributing independently of com- plement factor H to disease risk
    • Rivera A, Fisher SA, Fritsche LG, Keilhauer CN, Lichtner P, Meitinger T, Weber BHF. 2005. Hypothetical LOC387715 is a second major susceptibility gene for age-related mac- ular degeneration, contributing independently of com- plement factor H to disease risk. Hum Mol Genet 14: 3227-3236
    • (2005) Hum Mol Genet , vol.14 , pp. 3227-3236
    • Rivera, A.1    Fisher, S.A.2    Fritsche, L.G.3    Keilhauer, C.N.4    Lichtner, P.5    Meitinger, T.6    Weber, B.7
  • 38
    • 78650796012 scopus 로고    scopus 로고
    • Genome-wide association analyses of genetic, phe-notypic, and environmental risks in the age-related eye disease study
    • Ryu E, Fridley BL, Tosakulwong N, Bailey KR, Edwards AO. 2010. Genome-wide association analyses of genetic, phe-notypic, and environmental risks in the age-related eye disease study. Mol Vis 16: 2811-2821
    • (2010) Mol Vis , vol.16 , pp. 2811-2821
    • Ryu, E.1    Fridley, B.L.2    Tosakulwong, N.3    Bailey, K.R.4    Edwards, A.O.5
  • 41
    • 84876298555 scopus 로고    scopus 로고
    • Long-term follow-up of vascu- lar endothelial growth factor inhibitor therapy for neo-vascular age-related macular degeneration
    • Scott AW, Bressler SB. 2013. Long-term follow-up of vascu- lar endothelial growth factor inhibitor therapy for neo-vascular age-related macular degeneration. Curr Opin Ophthalmol 24: 190-196
    • (2013) Curr Opin Ophthalmol , vol.24 , pp. 190-196
    • Scott, A.W.1    Bressler, S.B.2
  • 44
  • 46
    • 38449106206 scopus 로고    scopus 로고
    • Ge- netic susceptibility to age-related macular degeneration: A paradigm for dissecting complex disease traits
    • Swaroop A, Branham KE, Chen W, Abecasis G. 2007. Ge- netic susceptibility to age-related macular degeneration: A paradigm for dissecting complex disease traits. Hum Mol Genet 16: R174-R182
    • (2007) Hum Mol Genet , vol.16 , pp. R174-R182
    • Swaroop, A.1    Branham, K.E.2    Chen, W.3    Abecasis, G.4
  • 48
    • 79955711373 scopus 로고    scopus 로고
    • Transplantation of adult mouse iPS cell-derived photoreceptor precursors restores retinal structure and function in degenerative mice
    • Tucker BA, Park I-H, Qi SD, Klassen HJ, Jiang C, Yao J, Redenti S, Daley GQ, Young MJ. 2011a. Transplantation of adult mouse iPS cell-derived photoreceptor precursors restores retinal structure and function in degenerative mice. PLoS ONE 6: e18992
    • (2011) Plos ONE , vol.6
    • Tucker, B.A.1    Park, I.-H.2    Qi, S.D.3    Klassen, H.J.4    Jiang, C.5    Yao, J.6    Redenti, S.7    Daley, G.Q.8    Young, M.J.9
  • 50
    • 84873466523 scopus 로고    scopus 로고
    • Use of a synthetic xeno-free culture substrate for induced pluripotent stem cell induction and retinal dif- ferentiation
    • Tucker BA, Anfinson KR, Mullins RF, Stone EM, Young MJ. 2013a. Use of a synthetic xeno-free culture substrate for induced pluripotent stem cell induction and retinal dif- ferentiation. Stem Cells Transl Med 2: 16-24
    • (2013) Stem Cells Transl Med , vol.2 , pp. 16-24
    • Tucker, B.A.1    Anfinson, K.R.2    Mullins, R.F.3    Stone, E.M.4    Young, M.J.5
  • 53
    • 39049174827 scopus 로고    scopus 로고
    • Induction of pluripotent stem cells from mouse fibroblast cultures
    • Yamanaka S, Takahashi K. 2006. Induction of pluripotent stem cells from mouse fibroblast cultures. Tanpakushitsu Kakusan Koso 51: 2346-2351
    • (2006) Tanpakushitsu Kakusan Koso , vol.51 , pp. 2346-2351
    • Yamanaka, S.1    Takahashi, K.2
  • 54
    • 84902302801 scopus 로고    scopus 로고
    • Validation of genome-wide association study (GWAS)-identified dis- ease risk alleles with patient-specific stem cell lines
    • Yang J, Li Y, Chan L, Tsai Y-T, Wu W-H, Nguyen HV, Hsu C- W, Li X, Brown LM, Egli D, et al. 2014. Validation of genome-wide association study (GWAS)-identified dis- ease risk alleles with patient-specific stem cell lines. Hum Mol Genet 23: 3445-3455
    • (2014) Hum Mol Genet , vol.23 , pp. 3445-3455
    • Yang, J.1    Li, Y.2    Chan, L.3    Tsai, Y.-T.4    Wu, W.-H.5    Nguyen, H.V.6    Hsu C-, W.7    Li, X.8    Brown, L.M.9    Egli, D.10
  • 55
    • 78649443884 scopus 로고    scopus 로고
    • Robust cell integration from co-transplantation of biodegradable MMP2-PLGA mi- crospheres with retinal progenitor cells
    • Yao J, Tucker BA, Zhang X, Checa-Casalengua P, Herrero- Vanrell R, Young MJ. 2011. Robust cell integration from co-transplantation of biodegradable MMP2-PLGA mi- crospheres with retinal progenitor cells. Biomaterials 32: 1041-1050
    • (2011) Biomaterials , vol.32 , pp. 1041-1050
    • Yao, J.1    Tucker, B.A.2    Zhang, X.3    Checa-Casalengua, P.4    Herrero-Vanrell, R.5    Young, M.J.6
  • 57
    • 20544471911 scopus 로고    scopus 로고
    • Strong association of the Y402H variant in complement factor H at 1q32 with susceptibility to age-related macular degeneration
    • Zareparsi S, Branham KEH, Li M, Shah S, Klein RJ, Ott J, Hoh J, Abecasis GR, Swaroop A. 2005. Strong association of the Y402H variant in complement factor H at 1q32 with susceptibility to age-related macular degeneration. Am J Hum Genet 77: 149-153
    • (2005) Am J Hum Genet , vol.77 , pp. 149-153
    • Zareparsi, S.1    Branham, K.2    Li, M.3    Shah, S.4    Klein, R.J.5    Ott, J.6    Hoh, J.7    Abecasis, G.R.8    Swaroop, A.9
  • 58
    • 34247494789 scopus 로고    scopus 로고
    • CNS progenitor cells promote a permissive envi-ronment for neurite outgrowth via a matrix metallopro- teinase-2-dependent mechanism
    • Zhang Y, Klassen HJ, Tucker BA, Perez M-TR, Young MJ. 2007. CNS progenitor cells promote a permissive envi-ronment for neurite outgrowth via a matrix metallopro- teinase-2-dependent mechanism. J Neurosci 27: 4499-4506
    • (2007) J Neurosci , vol.27 , pp. 4499-4506
    • Zhang, Y.1    Klassen, H.J.2    Tucker, B.A.3    Perez, M.-T.4    Young, M.J.5
  • 59
    • 46249093921 scopus 로고    scopus 로고
    • The NEI/NCBI dbGAP database: Genotypes and haplotypes that may specifically predispose to risk of neo- vascular age-related macular degeneration
    • Zhang H, Morrison MA, Dewan A, Adams S, Andreoli M, Huynh N, Regan M, Brown A, Miller JW, Kim IK, et al. 2008. The NEI/NCBI dbGAP database: Genotypes and haplotypes that may specifically predispose to risk of neo- vascular age-related macular degeneration. BMC Med Genet 9: 51
    • (2008) BMC Med Genet , vol.9 , pp. 51
    • Zhang, H.1    Morrison, M.A.2    Dewan, A.3    Adams, S.4    Reoli, M.5    Huynh, N.6    Regan, M.7    Brown, A.8    Miller, J.W.9    Kim, I.K.10


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.