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Volumn 25, Issue 2, 2011, Pages 267-272

A Truncated Retrotransposon Disrupts the GRM1 Coding Sequence in Coton de Tulear Dogs with Bandera's Neonatal Ataxia

Author keywords

Cerebellar ataxia; Genome wide association study; Metabotropic glutamate receptor 1; Synaptic plasticity

Indexed keywords

METABOTROPIC GLUTAMATE RECEPTOR TYPE 1; METABOTROPIC RECEPTOR; PRIMER DNA;

EID: 79952332933     PISSN: 08916640     EISSN: 19391676     Source Type: Journal    
DOI: 10.1111/j.1939-1676.2010.0666.x     Document Type: Article
Times cited : (34)

References (32)
  • 1
    • 0036836191 scopus 로고    scopus 로고
    • Neonatal cerebellar ataxia in Coton de Tulear dogs
    • Coates JR, O'Brien DP, Kline KL, et al. Neonatal cerebellar ataxia in Coton de Tulear dogs. J Vet Intern Med 2002;16:680-689.
    • (2002) J Vet Intern Med , vol.16 , pp. 680-689
    • Coates, J.1    O'Brien, D.2    Kline, K.3
  • 2
    • 0034597042 scopus 로고    scopus 로고
    • Presumed immune-mediated cerebellar granuloprival degeneration in the Coton de Tulear breed
    • Tipold A, Fatzer R, Jaggy A, et al. Presumed immune-mediated cerebellar granuloprival degeneration in the Coton de Tulear breed. J Neuroimmunol 2000;110:130-133.
    • (2000) J Neuroimmunol , vol.110 , pp. 130-133
    • Tipold, A.1    Fatzer, R.2    Jaggy, A.3
  • 3
    • 11144341883 scopus 로고    scopus 로고
    • A mutation in the CLN8 gene in English Setter dogs with neuronal ceroid-lipofuscinosis
    • Katz ML, Khan S, Awano T, et al. A mutation in the CLN8 gene in English Setter dogs with neuronal ceroid-lipofuscinosis. Biochem Biophys Res Commun 2005;327:541-547.
    • (2005) Biochem Biophys Res Commun , vol.327 , pp. 541-547
    • Katz, M.1    Khan, S.2    Awano, T.3
  • 4
    • 77957347839 scopus 로고    scopus 로고
    • An ADAMTS17 splice donor site mutation in dogs with primary lens luxation
    • Farias FH, Johnson GS, Taylor JF, et al. An ADAMTS17 splice donor site mutation in dogs with primary lens luxation. Invest Ophthalmol Vis Sci 2010;51:4716-4721.
    • (2010) Invest Ophthalmol Vis Sci , vol.51 , pp. 4716-4721
    • Farias, F.1    Johnson, G.2    Taylor, J.3
  • 5
    • 0031055331 scopus 로고    scopus 로고
    • Sequence patterns indicate an enzymatic involvement in integration of mammalian retroposons
    • Jurka J. Sequence patterns indicate an enzymatic involvement in integration of mammalian retroposons. Proc Natl Acad Sci USA 1997;94:1872-1877.
    • (1997) Proc Natl Acad Sci USA , vol.94 , pp. 1872-1877
    • Jurka, J.1
  • 6
    • 0028149789 scopus 로고
    • Deficient cerebellar long-term depression and impaired motor learning in mGluR1 mutant mice
    • Aiba A, Kano M, Chen C, et al. Deficient cerebellar long-term depression and impaired motor learning in mGluR1 mutant mice. Cell 1994;79:377-388.
    • (1994) Cell , vol.79 , pp. 377-388
    • Aiba, A.1    Kano, M.2    Chen, C.3
  • 7
    • 0027997686 scopus 로고
    • Motor deficit and impairment of synaptic plasticity in mice lacking mGluR1
    • Conquet F, Bashir ZI, Davies CH, et al. Motor deficit and impairment of synaptic plasticity in mice lacking mGluR1. Nature 1994;372:237-243.
    • (1994) Nature , vol.372 , pp. 237-243
    • Conquet, F.1    Bashir, Z.2    Davies, C.3
  • 8
    • 36248934609 scopus 로고    scopus 로고
    • crv4, a mouse model for human ataxia associated with kyphoscoliosis caused by an mRNA splicing mutation of the metabotropic glutamate receptor 1 (Grm1)
    • Conti V, Aghaie A, Cilli M, et al. crv4, a mouse model for human ataxia associated with kyphoscoliosis caused by an mRNA splicing mutation of the metabotropic glutamate receptor 1 (Grm1). Int J Mol Med 2006;18:593-600.
    • (2006) Int J Mol Med , vol.18 , pp. 593-600
    • Conti, V.1    Aghaie, A.2    Cilli, M.3
  • 9
    • 36349005817 scopus 로고    scopus 로고
    • The mouse mutants recoil wobbler and nmf373 represent a series of Grm1 mutations
    • Sachs AJ, Schwendinger JK, Yang AW, et al. The mouse mutants recoil wobbler and nmf373 represent a series of Grm1 mutations. Mamm Genome 2007;18:749-756.
    • (2007) Mamm Genome , vol.18 , pp. 749-756
    • Sachs, A.1    Schwendinger, J.2    Yang, A.3
  • 10
    • 0030606320 scopus 로고    scopus 로고
    • High frequency retrotransposition in cultured mammalian cells
    • Moran JV, Holmes SE, Naas TP, et al. High frequency retrotransposition in cultured mammalian cells. Cell 1996;87:917-927.
    • (1996) Cell , vol.87 , pp. 917-927
    • Moran, J.1    Holmes, S.2    Naas, T.3
  • 11
    • 0034079713 scopus 로고    scopus 로고
    • Human LINE retrotransposons generate processed pseudogenes
    • Esnault C, Maestre J, Heidmann T. Human LINE retrotransposons generate processed pseudogenes. Nat Genet 2000;24:363-367.
    • (2000) Nat Genet , vol.24 , pp. 363-367
    • Esnault, C.1    Maestre, J.2    Heidmann, T.3
  • 12
    • 0033529520 scopus 로고    scopus 로고
    • The sleep disorder canine narcolepsy is caused by a mutation in the hypocretin (Orexin) receptor 2 gene
    • Lin L, Faraco J, Li R, et al. The sleep disorder canine narcolepsy is caused by a mutation in the hypocretin (Orexin) receptor 2 gene. Cell 1999;98:365-376.
    • (1999) Cell , vol.98 , pp. 365-376
    • Lin, L.1    Faraco, J.2    Li, R.3
  • 13
    • 0242266080 scopus 로고    scopus 로고
    • A Line 1 insertion in the factor IX gene segregates with mild hemophilia B in dogs
    • Brooks MB, Gu W, Barnas JL, et al. A Line 1 insertion in the factor IX gene segregates with mild hemophilia B in dogs. Mamm Genome 2003;14:788-795.
    • (2003) Mamm Genome , vol.14 , pp. 788-795
    • Brooks, M.1    Gu, W.2    Barnas, J.3
  • 14
    • 20444433182 scopus 로고    scopus 로고
    • SINE exonic insertion in the PTPLA gene leads to multiple splicing defects and segregates with the autosomal recessive centronuclear myopathy in dogs
    • Pelé M, Tiret L, Kessler JL, et al. SINE exonic insertion in the PTPLA gene leads to multiple splicing defects and segregates with the autosomal recessive centronuclear myopathy in dogs. Hum Mol Genet 2005;14:1417-1427.
    • (2005) Hum Mol Genet , vol.14 , pp. 1417-1427
    • Pelé, M.1    Tiret, L.2    Kessler, J.3
  • 15
    • 31944436548 scopus 로고    scopus 로고
    • Retrotransposon insertion in SILV is responsible for merle patterning of the domestic dog
    • Clark LA, Wahl JM, Rees CA, Murphy KE. Retrotransposon insertion in SILV is responsible for merle patterning of the domestic dog. Proc Natl Acad Sci USA 2006;103:1376-1381.
    • (2006) Proc Natl Acad Sci USA , vol.103 , pp. 1376-1381
    • Clark, L.1    Wahl, J.2    Rees, C.3    Murphy, K.4
  • 16
    • 33748204582 scopus 로고    scopus 로고
    • Canine RPGRIP1 mutation establishes cone-rod dystrophy in Miniature Longhaired Dachshunds as a homologue of human Leber congenital amaurosis
    • Mellersh CS, Boursnell ME, Pettitt L, et al. Canine RPGRIP1 mutation establishes cone-rod dystrophy in Miniature Longhaired Dachshunds as a homologue of human Leber congenital amaurosis. Genomics 2006;88:293-301.
    • (2006) Genomics , vol.88 , pp. 293-301
    • Mellersh, C.1    Boursnell, M.2    Pettitt, L.3
  • 17
    • 73349101053 scopus 로고    scopus 로고
    • Transglutaminase 1-deficient recessive lamellar ichthyosis associated with a LINE-1 insertion in Jack Russell Terrier dogs
    • Credille KM, Minor JS, Barnhart KF, et al. Transglutaminase 1-deficient recessive lamellar ichthyosis associated with a LINE-1 insertion in Jack Russell Terrier dogs. Br J Dermatol 2009;161:265-272.
    • (2009) Br J Dermatol , vol.161 , pp. 265-272
    • Credille, K.1    Minor, J.2    Barnhart, K.3
  • 18
    • 0030784958 scopus 로고    scopus 로고
    • Mechanism and regulation of mRNA polyadenylation
    • Colgan DF, Manley JL. Mechanism and regulation of mRNA polyadenylation. Genes Dev 1997;11:2755-2766.
    • (1997) Genes Dev , vol.11 , pp. 2755-2766
    • Colgan, D.1    Manley, J.2
  • 19
    • 73449118966 scopus 로고    scopus 로고
    • Phenotypic variation and genotype-phenotype discordance in canine cone-rod dystrophy with an RPGRIP1 mutation
    • Miyadera K, Kato K, Aguirre-Hernández J, et al. Phenotypic variation and genotype-phenotype discordance in canine cone-rod dystrophy with an RPGRIP1 mutation. Mol Vis 2009;15:2287-2305.
    • (2009) Mol Vis , vol.15 , pp. 2287-2305
    • Miyadera, K.1    Kato, K.2    Aguirre-Hernández, J.3
  • 20
    • 77953067805 scopus 로고    scopus 로고
    • Identification of variants of the SPINK1 gene and their association with pancreatitis in Miniature Schnauzers
    • Bishop MA, Xenoulis PG, Levinski MD, et al. Identification of variants of the SPINK1 gene and their association with pancreatitis in Miniature Schnauzers. Am J Vet Res 2010;71:527-533.
    • (2010) Am J Vet Res , vol.71 , pp. 527-533
    • Bishop, M.1    Xenoulis, P.2    Levinski, M.3
  • 21
    • 0031035031 scopus 로고    scopus 로고
    • Persistent multiple climbing fiber innervation of cerebellar Purkinje cells in mice lacking mGluR1
    • Kano M, Hashimoto K, Kurihara H, et al. Persistent multiple climbing fiber innervation of cerebellar Purkinje cells in mice lacking mGluR1. Neuron 1997;18:71-79.
    • (1997) Neuron , vol.18 , pp. 71-79
    • Kano, M.1    Hashimoto, K.2    Kurihara, H.3
  • 22
    • 67650713830 scopus 로고    scopus 로고
    • Synapse elimination in the central nervous system
    • Kano M, Hashimoto K. Synapse elimination in the central nervous system. Curr Opin Neurobiol 2009;19:154-161.
    • (2009) Curr Opin Neurobiol , vol.19 , pp. 154-161
    • Kano, M.1    Hashimoto, K.2
  • 23
    • 0028139045 scopus 로고
    • Reduced hippocampal long-term potentiation and context-specific deficit in associative learning in mGluR1 mutant mice
    • Aiba A, Chen C, Herrup K, et al. Reduced hippocampal long-term potentiation and context-specific deficit in associative learning in mGluR1 mutant mice. Cell 1994;79:365-375.
    • (1994) Cell , vol.79 , pp. 365-375
    • Aiba, A.1    Chen, C.2    Herrup, K.3
  • 25
    • 77949798185 scopus 로고    scopus 로고
    • Modelling the molecular mechanisms of synaptic plasticity using systems biology approaches
    • Kotaleski JH, Blackwell KT. Modelling the molecular mechanisms of synaptic plasticity using systems biology approaches. Nat Rev Neurosci 2010;11:239-251.
    • (2010) Nat Rev Neurosci , vol.11 , pp. 239-251
    • Kotaleski, J.1    Blackwell, K.2
  • 26
    • 0036930252 scopus 로고    scopus 로고
    • mGluR1 in cerebellar Purkinje cells is required for normal association of temporally contiguous stimuli in classical conditioning
    • Kishimoto Y, Fujimichi R, Araishi K, et al. mGluR1 in cerebellar Purkinje cells is required for normal association of temporally contiguous stimuli in classical conditioning. Eur J Neurosci 2002;16:2416-2424.
    • (2002) Eur J Neurosci , vol.16 , pp. 2416-2424
    • Kishimoto, Y.1    Fujimichi, R.2    Araishi, K.3
  • 27
    • 0036174757 scopus 로고    scopus 로고
    • Loss of adaptability of horizontal optokinetic response eye movements in mGluR1 knockout mice
    • Shutoh F, Katoh A, Kitazawa H, et al. Loss of adaptability of horizontal optokinetic response eye movements in mGluR1 knockout mice. Neurosci Res 2002;42:141-145.
    • (2002) Neurosci Res , vol.42 , pp. 141-145
    • Shutoh, F.1    Katoh, A.2    Kitazawa, H.3
  • 28
    • 0347419233 scopus 로고    scopus 로고
    • Disruption of prepulse inhibition in mice lacking mGluR1
    • Brody SA, Conquet F, Geyer MA. Disruption of prepulse inhibition in mice lacking mGluR1. Eur J Neurosci 2003;18:3361-3366.
    • (2003) Eur J Neurosci , vol.18 , pp. 3361-3366
    • Brody, S.1    Conquet, F.2    Geyer, M.3
  • 29
    • 0031888178 scopus 로고    scopus 로고
    • Non-progressive congenital ataxia with or without cerebellar hypoplasia
    • Dev Med Child Neurol.
    • Steinlin M, Zangger B, Boltshauser E. Non-progressive congenital ataxia with or without cerebellar hypoplasia: A review of 34 subjects. Dev Med Child Neurol 1998;40:148-154.
    • (1998) A review of 34 subjects , vol.40 , pp. 148-154
    • Steinlin, M.1    Zangger, B.2    Boltshauser, E.3
  • 31
    • 0002461547 scopus 로고    scopus 로고
    • Paraneoplastic cerebellar ataxia due to autoantibodies against a glutamate receptor
    • Sillevis Smitt P, Kinoshita A, De Leeuw B, et al. Paraneoplastic cerebellar ataxia due to autoantibodies against a glutamate receptor. N Engl J Med 2000;342:21-27.
    • (2000) N Engl J Med , vol.342 , pp. 21-27
    • Sillevis Smitt, P.1    Kinoshita, A.2    De Leeuw, B.3
  • 32
    • 77952122495 scopus 로고    scopus 로고
    • Metabotropic glutamate receptor type 1 autoantibody-associated cerebellitis
    • Arch Neurol.
    • Marignier R, Chenevier F, Rogemond V, et al. Metabotropic glutamate receptor type 1 autoantibody-associated cerebellitis: A primary autoimmune disease? Arch Neurol 2010;67:627-630.
    • (2010) A primary autoimmune disease? , vol.67 , pp. 627-630
    • Marignier, R.1    Chenevier, F.2    Rogemond, V.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.