메뉴 건너뛰기




Volumn 22, Issue 14, 2013, Pages 2275-2284

Triplication of dyrk1a causes retinal structural and functional alterations in down syndrome

Author keywords

[No Author keywords available]

Indexed keywords

DUAL SPECIFICITY TYROSINE PHOSPHORYLATION REGULATED KINASE 1A; PROTEIN KINASE; UNCLASSIFIED DRUG; CASPASE 9; DYRK KINASE; PROTEIN SERINE THREONINE KINASE; PROTEIN TYROSINE KINASE;

EID: 84896559398     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddt125     Document Type: Article
Times cited : (40)

References (55)
  • 1
    • 0025620356 scopus 로고
    • Clinical aspects of Down syndrome from infancy to adulthood
    • Pueschel, S.M. (1990) Clinical aspects of Down syndrome from infancy to adulthood. Am. J. Med. Genet. Suppl., 7, 52-56.
    • (1990) Am. J. Med. Genet. Suppl. , vol.7 , pp. 52-56
    • Pueschel, S.M.1
  • 4
    • 65349123057 scopus 로고    scopus 로고
    • Ophthalmic abnormalities in children with Down syndrome
    • Creavin, A.L., and Brown, R.D. (2009) Ophthalmic abnormalities in children with Down syndrome. J. Pediatr. Ophthalmol. Strabismus, 46, 76-82.
    • (2009) J. Pediatr. Ophthalmol. Strabismus , vol.46 , pp. 76-82
    • Creavin, A.L.1    Brown, R.D.2
  • 5
    • 0029783030 scopus 로고    scopus 로고
    • Ocular findings in Down's syndrome
    • da Cunha, R.P., and Moreira, J.B. (1996) Ocular findings in Down's syndrome. Am. J. Ophthalmol., 122, 236-244.
    • (1996) Am. J. Ophthalmol. , vol.122 , pp. 236-244
    • da Cunha, R.P.1    Moreira, J.B.2
  • 7
    • 0030983375 scopus 로고    scopus 로고
    • Contrast sensitivity in infants, and children with Down syndrome
    • Courage, M.L., Adams, R.J., and Hall, E.J. (1997) Contrast sensitivity in infants, and children with Down syndrome. Vision. Res., 37, 1545-1555.
    • (1997) Vision. Res. , vol.37 , pp. 1545-1555
    • Courage, M.L.1    Adams, R.J.2    Hall, E.J.3
  • 9
    • 29144489509 scopus 로고    scopus 로고
    • Chromatic, and achromatic transient VEPs in adults with Down syndrome
    • Suttle, C.M., and Lloyd, R. (2005) Chromatic, and achromatic transient VEPs in adults with Down syndrome. Ophthalmic Physiol. Opt., 25, 501-513.
    • (2005) Ophthalmic Physiol. Opt. , vol.25 , pp. 501-513
    • Suttle, C.M.1    Lloyd, R.2
  • 10
    • 28744438296 scopus 로고    scopus 로고
    • Sensory evoked potentials in infants with Down syndrome
    • Chen, Y.J., and Fang, P.C. (2005) Sensory evoked potentials in infants with Down syndrome. Acta Paediatr., 94, 1615-1618.
    • (2005) Acta Paediatr. , vol.94 , pp. 1615-1618
    • Chen, Y.J.1    Fang, P.C.2
  • 11
    • 0022506009 scopus 로고
    • Dendritic atrophy in children with Down's syndrome
    • Becker, L.E., Armstrong, D.L., and Chan, F. (1986) Dendritic atrophy in children with Down's syndrome. Ann. Neurol., 20, 520-526.
    • (1986) Ann. Neurol. , vol.20 , pp. 520-526
    • Becker, L.E.1    Armstrong, D.L.2    Chan, F.3
  • 12
    • 57749171408 scopus 로고    scopus 로고
    • Does visual impairment lead to additional disability in adults with intellectual disabilities?
    • Evenhuis, H.M., Sjoukes, L., Koot, H.M., and Kooijman, A.C. (2009) Does visual impairment lead to additional disability in adults with intellectual disabilities? J. Intellect. Disabil. Res., 53, 19-28.
    • (2009) J. Intellect. Disabil. Res. , vol.53 , pp. 19-28
    • Evenhuis, H.M.1    Sjoukes, L.2    Koot, H.M.3    Kooijman, A.C.4
  • 13
    • 84867733984 scopus 로고    scopus 로고
    • The neuronal organization of the retina
    • Masland, R.H. (2012) The neuronal organization of the retina. Neuron, 76, 266-280.
    • (2012) Neuron , vol.76 , pp. 266-280
    • Masland, R.H.1
  • 14
    • 17144382440 scopus 로고    scopus 로고
    • Regulation of proliferation during central nervous system development
    • Donovan, S.L., and Dyer, M.A. (2005) Regulation of proliferation during central nervous system development. Semin. Cell Dev. Biol., 16, 407-421.
    • (2005) Semin. Cell Dev. Biol. , vol.16 , pp. 407-421
    • Donovan, S.L.1    Dyer, M.A.2
  • 15
    • 24944454987 scopus 로고    scopus 로고
    • Runx1 expression defines a subpopulation of displaced amacrine cells in the developing mouse retina
    • Stewart, L., Potok, M.A., Camper, S.A., and Stifani, S. (2005) Runx1 expression defines a subpopulation of displaced amacrine cells in the developing mouse retina. J. Neurochem., 94, 1739-1745.
    • (2005) J. Neurochem. , vol.94 , pp. 1739-1745
    • Stewart, L.1    Potok, M.A.2    Camper, S.A.3    Stifani, S.4
  • 18
    • 84861204738 scopus 로고    scopus 로고
    • Transcription factor Olig2 defines subpopulations of retinal progenitor cells biased toward specific cell fates
    • Hafler, B.P., Surzenko, N., Beier, K.T., Punzo, C., Trimarchi, J.M., Kong, J.H., and Cepko, C.L. (2012) Transcription factor Olig2 defines subpopulations of retinal progenitor cells biased toward specific cell fates. Proc. Natl Acad. Sci. USA, 109, 7882-7887.
    • (2012) Proc. Natl Acad. Sci. USA , vol.109 , pp. 7882-7887
    • Hafler, B.P.1    Surzenko, N.2    Beier, K.T.3    Punzo, C.4    Trimarchi, J.M.5    Kong, J.H.6    Cepko, C.L.7
  • 19
    • 84856508563 scopus 로고    scopus 로고
    • Trisomy 21, and early brain development
    • Haydar, T.F., and Reeves, R.H. (2012) Trisomy 21, and early brain development. Trends Neurosci., 35, 81-91.
    • (2012) Trends Neurosci. , vol.35 , pp. 81-91
    • Haydar, T.F.1    Reeves, R.H.2
  • 22
  • 24
    • 79961208486 scopus 로고    scopus 로고
    • Normative data set identifying properties of the macula across age groups: integration of visual function, and retinal structure with microperimetry, and spectral-domain optical coherence tomography
    • Sabates, F.N., Vincent, R.D., Koulen, P., Sabates, N.R., and Gallimore, G. (2011) Normative data set identifying properties of the macula across age groups: integration of visual function, and retinal structure with microperimetry, and spectral-domain optical coherence tomography. Retina, 31, 1294-1302.
    • (2011) Retina , vol.31 , pp. 1294-1302
    • Sabates, F.N.1    Vincent, R.D.2    Koulen, P.3    Sabates, N.R.4    Gallimore, G.5
  • 26
    • 2442641521 scopus 로고    scopus 로고
    • Transgenic mouse in vivo library of human Down syndrome critical region 1: association between DYRK1A overexpression, brain development abnormalities,, and cell cycle protein alteration
    • Branchi, I., Bichler, Z., Minghetti, L., Delabar, J.M., Malchiodi-Albedi, F., Gonzalez, M.C., Chettouh, Z., Nicolini, A., Chabert, C., Smith, D.J. et al. (2004) Transgenic mouse in vivo library of human Down syndrome critical region 1: association between DYRK1A overexpression, brain development abnormalities,, and cell cycle protein alteration. J. Neuropathol. Exp. Neurol., 63, 429-440.
    • (2004) J. Neuropathol. Exp. Neurol. , vol.63 , pp. 429-440
    • Branchi, I.1    Bichler, Z.2    Minghetti, L.3    Delabar, J.M.4    Malchiodi-Albedi, F.5    Gonzalez, M.C.6    Chettouh, Z.7    Nicolini, A.8    Chabert, C.9    Smith, D.J.10
  • 27
    • 34247345833 scopus 로고    scopus 로고
    • The apoptosome: signalling platform of cell death
    • Riedl, S.J., and Salvesen, G.S. (2007) The apoptosome: signalling platform of cell death. Nat. Rev. Mol. Cell Biol., 8, 405-413.
    • (2007) Nat. Rev. Mol. Cell Biol. , vol.8 , pp. 405-413
    • Riedl, S.J.1    Salvesen, G.S.2
  • 28
    • 0038555748 scopus 로고    scopus 로고
    • Molecular determinants of retinal ganglion cell development, survival,, and regeneration
    • Isenmann, S., Kretz, A., and Cellerino, A. (2003) Molecular determinants of retinal ganglion cell development, survival,, and regeneration. Prog. Retin. Eye Res., 22, 483-543.
    • (2003) Prog. Retin. Eye Res. , vol.22 , pp. 483-543
    • Isenmann, S.1    Kretz, A.2    Cellerino, A.3
  • 32
    • 0021679078 scopus 로고
    • Cell death during differentiation of the retina in the mouse
    • Young, R.W. (1984) Cell death during differentiation of the retina in the mouse. J. Comp. Neurol., 229, 362-373.
    • (1984) J. Comp. Neurol. , vol.229 , pp. 362-373
    • Young, R.W.1
  • 33
    • 0033942160 scopus 로고    scopus 로고
    • Apoptosis in the developing visual system
    • Cellerino, A., Bahr, M., and Isenmann, S. (2000) Apoptosis in the developing visual system. Cell Tissue Res., 301, 53-69.
    • (2000) Cell Tissue Res. , vol.301 , pp. 53-69
    • Cellerino, A.1    Bahr, M.2    Isenmann, S.3
  • 34
    • 21644450408 scopus 로고    scopus 로고
    • Cell birth, and death in the mouse retinal ganglion cell layer
    • Farah, M.H., and Easter, S.S. Jr (2005) Cell birth, and death in the mouse retinal ganglion cell layer. J. Comp. Neurol., 489, 120-134.
    • (2005) J. Comp. Neurol. , vol.489 , pp. 120-134
    • Farah, M.H.1    Easter, S.S.Jr.2
  • 35
    • 4544241058 scopus 로고    scopus 로고
    • The transcription factor Bhlhb4 is required for rod bipolar cell maturation
    • Bramblett, D.E., Pennesi, M.E., Wu, S.M., and Tsai, M.J. (2004) The transcription factor Bhlhb4 is required for rod bipolar cell maturation. Neuron, 43, 779-793.
    • (2004) Neuron , vol.43 , pp. 779-793
    • Bramblett, D.E.1    Pennesi, M.E.2    Wu, S.M.3    Tsai, M.J.4
  • 42
    • 0033978891 scopus 로고    scopus 로고
    • Discovery, and genetic localization of Down syndrome cerebellar phenotypes using the Ts65Dn mouse
    • Baxter, L.L., Moran, T.H., Richtsmeier, J.T., Troncoso, J., and Reeves, R.H. (2000) Discovery, and genetic localization of Down syndrome cerebellar phenotypes using the Ts65Dn mouse. Hum. Mol. Genet., 9, 195-202.
    • (2000) Hum. Mol. Genet. , vol.9 , pp. 195-202
    • Baxter, L.L.1    Moran, T.H.2    Richtsmeier, J.T.3    Troncoso, J.4    Reeves, R.H.5
  • 43
    • 78651062069 scopus 로고    scopus 로고
    • MNB/DYRK1A as a multiple regulator of neuronal development
    • Tejedor, F.J., and Hammerle, B. (2011) MNB/DYRK1A as a multiple regulator of neuronal development. FEBS J., 278, 223-235.
    • (2011) FEBS J. , vol.278 , pp. 223-235
    • Tejedor, F.J.1    Hammerle, B.2
  • 46
    • 77949678789 scopus 로고    scopus 로고
    • Dyrk1A overexpression inhibits proliferation, and induces premature neuronal differentiation of neural progenitor cells
    • Yabut, O., Domogauer, J., and D'Arcangelo, G. (2010) Dyrk1A overexpression inhibits proliferation, and induces premature neuronal differentiation of neural progenitor cells. J. Neurosci., 30, 4004-4014.
    • (2010) J. Neurosci. , vol.30 , pp. 4004-4014
    • Yabut, O.1    Domogauer, J.2    D'Arcangelo, G.3
  • 48
    • 0035445736 scopus 로고    scopus 로고
    • Neurodevelopmental delay, motor abnormalities, and cognitive deficits in transgenic mice overexpressing Dyrk1A (minibrain), a murine model of Down's syndrome
    • Altafaj, X., Dierssen, M., Baamonde, C., Marti, E., Visa, J., Guimera, J., Oset, M., Gonzalez, J.R., Florez, J., Fillat, C. et al. (2001) Neurodevelopmental delay, motor abnormalities, and cognitive deficits in transgenic mice overexpressing Dyrk1A (minibrain), a murine model of Down's syndrome. Hum. Mol. Genet., 10, 1915-1923.
    • (2001) Hum. Mol. Genet. , vol.10 , pp. 1915-1923
    • Altafaj, X.1    Dierssen, M.2    Baamonde, C.3    Marti, E.4    Visa, J.5    Guimera, J.6    Oset, M.7    Gonzalez, J.R.8    Florez, J.9    Fillat, C.10
  • 52
    • 34447343104 scopus 로고    scopus 로고
    • Familial 4.3 Mb duplication of 21q22 sheds new light on the Down syndrome critical region
    • Ronan, A., Fagan, K., Christie, L., Conroy, J., Nowak, N.J., and Turner, G. (2007) Familial 4.3 Mb duplication of 21q22 sheds new light on the Down syndrome critical region. J. Med. Genet., 44, 448-451.
    • (2007) J. Med. Genet. , vol.44 , pp. 448-451
    • Ronan, A.1    Fagan, K.2    Christie, L.3    Conroy, J.4    Nowak, N.J.5    Turner, G.6
  • 55
    • 0026072333 scopus 로고
    • Identification of a nonsense mutation in the rod photoreceptor cGMP phosphodiesterase beta-subunit gene of the rd mouse
    • Pittler, S.J., and Baehr, W. (1991) Identification of a nonsense mutation in the rod photoreceptor cGMP phosphodiesterase beta-subunit gene of the rd mouse. Proc. Natl Acad. Sci. USA, 88, 8322-8326.
    • (1991) Proc. Natl Acad. Sci. USA , vol.88 , pp. 8322-8326
    • Pittler, S.J.1    Baehr, W.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.