메뉴 건너뛰기




Volumn 491, Issue 2, 2011, Pages 118-121

A functional tetranucleotide (AAAT) polymorphism in an Alu element in the NF1 gene is associated with mental retardation

Author keywords

Association study; CAT; Neurofibromatosis type 1; Non denaturing HPLC; Non syndromic mental retardation

Indexed keywords

ADENOSINE; CHLORAMPHENICOL ACETYLTRANSFERASE; NEUROFIBROMIN; THYMINE;

EID: 79951579488     PISSN: 03043940     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.neulet.2011.01.019     Document Type: Article
Times cited : (8)

References (24)
  • 4
    • 0033605484 scopus 로고    scopus 로고
    • Epidemiology of neurofibromatosis type 1
    • Friedman J.M. Epidemiology of neurofibromatosis type 1. Am. J. Med. Genet. 1999, 89:1-6.
    • (1999) Am. J. Med. Genet. , vol.89 , pp. 1-6
    • Friedman, J.M.1
  • 5
    • 67649921127 scopus 로고    scopus 로고
    • The genetic landscape of intellectual disability arising from chromosome X
    • Gecz J., Shoubridge C., Corbett M. The genetic landscape of intellectual disability arising from chromosome X. Trends Genet. 2009, 25:308-316.
    • (2009) Trends Genet. , vol.25 , pp. 308-316
    • Gecz, J.1    Shoubridge, C.2    Corbett, M.3
  • 6
    • 26444599545 scopus 로고    scopus 로고
    • The nature and frequency of cognitive deficits in children with neurofibromatosis type 1
    • Hyman S.L., Shores A., North K.N. The nature and frequency of cognitive deficits in children with neurofibromatosis type 1. Neurology 2005, 65:1037-1044.
    • (2005) Neurology , vol.65 , pp. 1037-1044
    • Hyman, S.L.1    Shores, A.2    North, K.N.3
  • 7
    • 0034892401 scopus 로고    scopus 로고
    • Molecular characterization and gene content of breakpoint boundaries in patients with neurofibromatosis type 1 with 17q11.2 microdeletions
    • Jenne D.E., Tinschert S., Reimann H., Lasinger W., Thiel G., Hameister H., Kehrer-Sawatzki H. Molecular characterization and gene content of breakpoint boundaries in patients with neurofibromatosis type 1 with 17q11.2 microdeletions. Am. J. Hum. Genet. 2001, 69:516-527.
    • (2001) Am. J. Hum. Genet. , vol.69 , pp. 516-527
    • Jenne, D.E.1    Tinschert, S.2    Reimann, H.3    Lasinger, W.4    Thiel, G.5    Hameister, H.6    Kehrer-Sawatzki, H.7
  • 12
    • 0031886282 scopus 로고    scopus 로고
    • A tetranucleotide polymorphic microsatellite, located in the first intron of the tyrosine hydroxylase gene, acts as a transcription regulatory element in vitro
    • Meloni R., Albanese V., Ravassard P., Treilhou F., Mallet J. A tetranucleotide polymorphic microsatellite, located in the first intron of the tyrosine hydroxylase gene, acts as a transcription regulatory element in vitro. Hum. Mol. Genet. 1998, 7:423-428.
    • (1998) Hum. Mol. Genet. , vol.7 , pp. 423-428
    • Meloni, R.1    Albanese, V.2    Ravassard, P.3    Treilhou, F.4    Mallet, J.5
  • 14
    • 77949526461 scopus 로고    scopus 로고
    • Could autism with mental retardation result from digenism and frequent de novo mutations?
    • Moraine C., Bonnet-Brilhault F., Laumonnier F., Gomot M. Could autism with mental retardation result from digenism and frequent de novo mutations?. World J. Biol. Psychiatry 2009, 10:1030-1036.
    • (2009) World J. Biol. Psychiatry , vol.10 , pp. 1030-1036
    • Moraine, C.1    Bonnet-Brilhault, F.2    Laumonnier, F.3    Gomot, M.4
  • 15
    • 33750268841 scopus 로고    scopus 로고
    • Genotyping of simple sequence repeats-factors implicated in shadow band generation revisited
    • Olejniczak M., Krzyzosiak W.J. Genotyping of simple sequence repeats-factors implicated in shadow band generation revisited. Electrophoresis 2006, 27:3724-3734.
    • (2006) Electrophoresis , vol.27 , pp. 3724-3734
    • Olejniczak, M.1    Krzyzosiak, W.J.2
  • 17
    • 0029999154 scopus 로고    scopus 로고
    • An Alu element in the myeloperoxidase promoter contains a composite SP1-thyroid hormone-retinoic acid response element
    • Piedrafita F.J., Molander R.B., Vansant G., Orlova E.A., Pfahl M., Reynolds W.F. An Alu element in the myeloperoxidase promoter contains a composite SP1-thyroid hormone-retinoic acid response element. J. Biol. Chem. 1996, 271:14412-14420.
    • (1996) J. Biol. Chem. , vol.271 , pp. 14412-14420
    • Piedrafita, F.J.1    Molander, R.B.2    Vansant, G.3    Orlova, E.A.4    Pfahl, M.5    Reynolds, W.F.6
  • 18
    • 44449084835 scopus 로고    scopus 로고
    • Evolutionary rates and patterns for human transcription factor binding sites derived from repetitive DNA
    • Polavarapu N., Marino-Ramirez L., Landsman D., McDonald J.F., Jordan I.K. Evolutionary rates and patterns for human transcription factor binding sites derived from repetitive DNA. BMC Genomics 2008, 9:226.
    • (2008) BMC Genomics , vol.9 , pp. 226
    • Polavarapu, N.1    Marino-Ramirez, L.2    Landsman, D.3    McDonald, J.F.4    Jordan, I.K.5
  • 19
    • 52949098733 scopus 로고    scopus 로고
    • Genetics of intellectual disability
    • Ropers H.H. Genetics of intellectual disability. Curr. Opin. Genet. Dev. 2008, 18:241-250.
    • (2008) Curr. Opin. Genet. Dev. , vol.18 , pp. 241-250
    • Ropers, H.H.1
  • 20
    • 0038182584 scopus 로고    scopus 로고
    • Neurocognitive dysfunction in children with neurofibromatosis type 1
    • Rosser T.L., Packer R.J. Neurocognitive dysfunction in children with neurofibromatosis type 1. Curr. Neurol. Neurosci. Rep. 2003, 3:129-136.
    • (2003) Curr. Neurol. Neurosci. Rep. , vol.3 , pp. 129-136
    • Rosser, T.L.1    Packer, R.J.2
  • 21
    • 33644657847 scopus 로고    scopus 로고
    • Mutations and novel polymorphisms in coding regions and UTRs of CDK5R1 and OMG genes in patients with non-syndromic mental retardation
    • Venturin M., Moncini S., Villa V., Russo S., Bonati M.T., Larizza L., Riva P. Mutations and novel polymorphisms in coding regions and UTRs of CDK5R1 and OMG genes in patients with non-syndromic mental retardation. Neurogenetics 2006, 7:59-66.
    • (2006) Neurogenetics , vol.7 , pp. 59-66
    • Venturin, M.1    Moncini, S.2    Villa, V.3    Russo, S.4    Bonati, M.T.5    Larizza, L.6    Riva, P.7
  • 22
  • 23
    • 2442712937 scopus 로고    scopus 로고
    • Oligodendrocyte myelin glycoprotein (OMgp): evolution, structure and function
    • Vourc'h P., Andres C. Oligodendrocyte myelin glycoprotein (OMgp): evolution, structure and function. Brain Res. Brain Res. Rev. 2004, 45:115-124.
    • (2004) Brain Res. Brain Res. Rev. , vol.45 , pp. 115-124
    • Vourc'h, P.1    Andres, C.2
  • 24
    • 79951578675 scopus 로고    scopus 로고
    • Isolation, cultivation and identification of neural stem cell from human embryonic CNS
    • Wang L., Hu H., Zhang C., Li X., Tao D., Chen F. Isolation, cultivation and identification of neural stem cell from human embryonic CNS. Sheng Wu Yi Xue Gong Cheng Xue Za Zhi 2002, 19:264-267.
    • (2002) Sheng Wu Yi Xue Gong Cheng Xue Za Zhi , vol.19 , pp. 264-267
    • Wang, L.1    Hu, H.2    Zhang, C.3    Li, X.4    Tao, D.5    Chen, F.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.