Identification of single nucleotide polymorphisms (SNPs) and other sequence changes and estimation of nucleotide diversity in coding and flanking regions of the NMDAR1 receptor gene in schizophrenic patients
Tóm tắt
Từ khóa
Tài liệu tham khảo
Wood MW, VanDongen HMA, VanDongen AMJ . The 5′-untranslated region of the n-methyl-d-aspartate receptor. NR2A subunit controls efficiency of translation J Biol Chem 1996 271: 8115–8120
Laube B, Kuhse J, Betz H . Evidence for a tetrameric structure of recombinant NMDA receptors J Neurosci 1998 18: 2954–2961
Javitt DC, Zukin SR . Recent advances in the phencyclidine model of schizophrenia Am J Psychiatry 1991 148: 1301–1308
Kandel E . Disorders of thought: schizophrenia. In: Kandel ER, Schwartz JH, Jessell TM (eds) Principles of Neural Science 3rd edn: Elsevier Press, New York 1991 p 866
Malhotra A . Park City Molecular Psychiatry Conference, Feb 2–4, 1997 Meeting report: Psych Genet 1997 7: 53–56
Das S, Sasaki YF, Rothe T, Premkumar LS, Takasu M, Crandall JE et al. Increased NMDA current and spine density in mice lacking the NMDA receptor subunit NR3A Nature 1998 393: 377–381
Mohn AR, Gainetdinov RR, Caron MG, Koller BH . Mice with reduced NMDA receptor expression display behaviors related to schizophrenia Cell 1999 98: 427–436
Sobell J, Heston L, Sommer S . Novel association approach for determining the genetic predisposition to schizophrenia: case-control resource and testing of a candidate gene Am J Med Genet (Neuropsych Genet) 1993 48: 28–35
Sobell JL, Lind TJ, Sigurdson DC, Zald DH, Snitz BE, Grove WM et al. The D5 dopamine receptor gene in schizophrenia: identification of a nonsense mutation and multiple missense changes but lack of association with disease Hum Mol Genet 1995 4: 507–514
Liu Q, Feng J, Sommer S . Bi-directional dideoxy fingerprinting (Bi-ddF): a rapid method for quantitative detection of mutations in genomic regions of 300–600 bp Hum Mol Genet 1996 5: 107–114
Sarkar G, Yoon H-S, Sommer S . Dideoxy fingerprinting (ddF): a rapid and efficient screen for the presence of mutations Genomics 1992 13: 441–443
Liu Q, Sommer S . Parameters affecting the sensitivities of dideoxy fingerprinting and SSCP PCR Meth Applic 1994 4: 97–108
Lancaster JM, Berchuck A, Futreal PA, Wiseman RW . Dideoxy fingerprinting assay for BRCA1 mutation analysis Mol Carcinog 1997 19: 176–179
Puck JM, Middelton L, Pepper AE . Carrier and prenatal diagnosis of X-linked severe combined immunodeficiency: mutation detection methods and utilization Hum Genet 1997 99: 628–633
Quandt K, Frech K, Karas H, Wingender E, Werner T . MatInd and MatInspector: new fast and versatile tools for detection of consensus matches in nucleotide sequence data Nucleic Acids Res 1995 23: 4878–4884
Kolchanov NA, Ponomarenko MP, Frolov AS, Ananko EA, Kolpakov FA, Ignatieva EV et al. Integrated databases and computer systems for studying eurkaryotic gene expression Bioinformatics 1999 15: 669–686
Heinemeyer T, Wingender E, Reuter I, Hermjakob H, Kel AE, Kel OV et al. Databases on transcriptional regulation: TRANSFAC, TRRD, and COMPEL Nucleic Acids Res 1998 26: 364–370
Li W-H . Molecular Evolution Sinauer Associates, Sunderland, MA 1997 pp 237–238
Halushka MK, Fan J-B, Bentley K, Hsie L, Shen N, Weder A et al. Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis Nat Genet 1999 22: 239–247
D'Souza I, Poorkaj P, Hong M, Nochlin D, Lee VM-Y, Bird TD et al. Missense and silent tau gene mutations cause frontotemporal dementia with parkinsonism-chromosome 17 type, by affecting multiple alternative RNA splicing regulatory elements Proc Natl Acad Sci USA 1999 96: 5598–5603
Chew SL, Liu HX, Mayeda A, Krainer AR . Evidence for the function of an exonic splicing enhancer after the first catalytic step of pre-mRNA splicing Proc Natl Acad Sci USA 1999 96: 10655–10660
Kuo BA, Norton PA . Accurate selection of a 5′ splice site requires sequences within fibronectin alternative exon B Nucl Acid Res 1999 27: 3945–3952
Liu W, Qian C, Francke U . Silent mutation induces exon skipping of fibrillin-1 gene in Marfan syndrome Nat Genet 1997 16: 328–329
Myers SJ, Dingledine R, Borges K . Genetic regulation of glutamate receptor ion channels Annu Rev Pharmacol Toxicol 1999 39: 221–241
Cargill M, Altshuler D, Ireland J, Sklar P, Ardlie K, Patil N et al. Characterization of single-nucleotide polymorphisms in coding regions of human genes Nat Genet 1999 22: 231–238