Genetic instabilities and hereditary neurological diseases
Genetic instabilities and hereditary neurological diseases
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发表时间：
1998
期刊：
影响因子：
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通讯作者：
R. Wells;S. Warren;M. Sarmiento
中科院分区：
文献类型：
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作者：
R. Wells;S. Warren;M. Sarmiento
导言：G.R.Wilmot和S.T.Warren，疾病的新突变基础。脆性X综合征：R.哈格曼，脆性X综合征的临床和诊断方面。首页--期刊主要分类--期刊细介绍--期刊题录与文摘--文摘内容Mandell，FMR 1和脆性X综合征的突变：分子生物学，生物化学和遗传学。B.A.Oostra和P.J.Willems，脆性X综合征小鼠模型。其他脆弱部位：D.L.Nelson、FRAXE智力低下和其他叶酸敏感部位。T·格洛弗，常见的脆弱地点。脊柱和延髓肌肉萎缩：J.D.扎亚克和麦克林阁下，肯尼迪病：临床特点。D.E.Merry和K.H.Fischbeck，雄激素受体CAG重复的遗传学和分子生物学。强直性肌营养不良症：P.Harper，作为三核苷酸重复疾病的强直性肌营养不良症--临床观点。J.D.Wering和R.Korneluk，强直性肌营养不良CTG重复的遗传研究。爱泼斯坦和金思成，糖尿病蛋白激酶(DMPK)的生化研究。C.L.温彻斯特和K.J.约翰逊，强直性肌营养不良(DM)是邻近基因缺陷的结果吗？D.G.蒙克顿、T.Ashizawa和M.J.西西里亚诺，强直性肌营养不良症小鼠模型。齿状脑-苍白球萎缩：I.近藤，DRPLA的临床方面。苏世民，齿状核-苍白球萎缩的分子遗传学研究。J·万斯，等位基因变种：山楂河综合症。脊髓小脑性共济失调1型：S.H.亚伯拉莫尼和P.J.S.Vig，SCA-1的临床切入点。B.T.Koshy，A.Matilla和H.Y.Zoghbi，SCA1基因的遗传研究和Aaxin的生化工作。D.Kaytor和H.T.Orr，SCA1小鼠模型：重复不稳定性和神经生物学。其他显性脊髓小脑性共济失调：S-M。首页--期刊主要分类--期刊细介绍--期刊题录与文摘--期刊详细文摘内容Mandel，Y.Agid和A.Brice，常染色体显性遗传性小脑性共济失调合并黄斑营养不良(SCA7)是由高度不稳定的CAG重复扩张引起的。马查多-约瑟夫病的遗传和分子研究。亨廷顿病：R.H.迈耶斯，K.S.Marans，和M.E.Macdonald，亨廷顿病。A.H.M.马布布·胡克、A.哈卡姆、R.K.格雷厄姆、C.L.惠灵顿和M.R.海登，《亨廷顿病的分子病理：亨廷顿的生物化学研究》。G.P.贝茨、E.E.旺克和S.W.戴维斯，亨廷顿病小鼠模型。Freidreich‘s共济失调：M.Pandolfo和M.Koenig，Freidreich共济失调的临床和病理方面。候选人揭示预期障碍：M.G.麦金尼斯和R.L.马戈利斯，预期与精神病学疾病。A.D.Paterson、D.M.J.Naimark、J.B.文森特、J.L.肯尼迪和A.Petronis，神经学和其他疾病中的遗传预期。不稳定三核苷酸重复基因座的检测方法：R.L.马戈利斯和C.A.罗斯，不稳定三核苷酸重复基因座的检测：基因组和cDNA筛选。首页--期刊主要分类--期刊细介绍--期刊题录与文摘--文摘内容袁，C.E.Burgess，C.Zander，和T.Hudson，Red Technology。Y.Trottier，G.Zeder-Lutz和J-L.Mandel，用单抗选择性识别病理性多谷氨酰胺束的蛋白质。首页--期刊主要分类--期刊细介绍--期刊题录与文摘--文摘内容研究遗传不稳定性的系统：A.Bacolla、R.P.Bowater和R.D.Wells，研究遗传不稳定性的系统：大肠杆菌。S.Jinks-Robertson，C.Greene，和W.Cheng，酵母中的遗传不稳定性。施泰因巴赫，D.Wohrle，D.格拉泽和W.Vogel，研究三重重复不稳定性的系统：培养的哺乳动物细胞。P.Glazer、S.E.Andrew、F.R.Jirik和L.Narayanan，DNA错配修复缺陷转基因小鼠的遗传不稳定性。E.P.Leeflang，S.Tavare，P.Marjoram，R.Grewal，C.O.S.Neal，和N.Arnheim，人类生殖系突变的单基因组聚合酶链式反应分析：应用于动态突变。三重重复序列的生物物理和结构研究：R.Gellibolian和A.Bacolla，三重重复序列的生物物理和结构研究：双三重重复结构。C.E.皮尔逊和R.R.辛登，滑链DNA、动态突变和人类疾病。高晓刚，黄兴国，史密斯，郑明，含三核苷酸重复序列的单链核酸的结构与动力学。S.V.SanThana-Mariappan，X.Chen，P.Catasti，E.M.Bradbury，和G.Gupta，关于不稳定三重态重复的结构研究。J.D.格里菲斯和Y-H。核小体分析与染色质结构的疾病。TRS的复制-修复：S.H.威尔逊、R.K.Singhal和B.Z.Zudzka，DNA聚合酶在基于复制的重复扩张中的研究。L.C.Kroutil和T.A.kunkel，涉及链错位的DNA复制错误。K.Ohshima和R.D.Wells，三重重复序列的体外DNA合成。低聚谷氨酰胺效应：H.格林和P.Djian，蛋白质中的氨基酸重复和由多聚谷氨酰胺引起的神经疾病。C.A.罗斯、R.L.马戈利斯、M.W.贝歇尔、J.D.伍德、S.Engelender和A.H.夏普，《多谷氨酰胺神经退行性疾病的发病机制：走向统一的机制》。不涉及三联体重复的基因组不稳定性：进行性肌阵挛癫痫患者的S.E.Antonarakis，12-mer(CCCCGCCCCGCG)重复序列的扩展。J.M.Cunningham、L.A.Boardman、L.J.Burgart和S.N.Thibodeau，散发性和遗传性非息肉病性结肠癌中的微卫星不稳定性。综述与总结：R.D.Wells和S.T.Warren，未来方向。主题索引。
Introduction: G.R. Wilmot and S.T. Warren, New Mutational Basis of Disease. Fragile X Syndrome: R. Hagerman, Clinical and Diagnostic Aspects of Fragile X Syndrome. G. Imbert, Y. Feng, D.L. Nelson, S.T. Warren, and J-L. Mandell, FMR 1 and Mutations in Fragile X Syndrome: Molecular Biology, Biochemistry, and Genetics. B.A. Oostra and P.J. Willems, Murine Model of Fragile X Syndrome. Other Fragile Sites: D.L. Nelson, FRAXE Mental Retardation and other Folate-Sensitive Sites. T. Glover, Common Fragile Sites. Spinal and Bulbar Muscular Atrophy: J.D. Zajac and H.E. MacLean, Kennedys Disease: Clinical Aspecs. D.E. Merry and K.H. Fischbeck, Genetics and Molecular Biology of the Androgen Receptor CAG Repeat. Myotonic Dystrophy: P. Harper, Myotonic Dystrophy as a Trinucleotide Repeat Disorder--A Clinical Perspective. J.D. Waring and R. Korneluk, Genetic Studies of the Myotonic Dystrophy CTG Repeat. H.F. Epstein and S. Jin, Biochemical Studies of the DM Protein Kinase (DMPK). C.L. Winchester and K.J. Johnson, Is Myotonic Dystrophy (DM) the Result of a Contiguous Gene Defect? D.G. Monckton, T. Ashizawa, and M.J. Siciliano, Murine Models for Myotonic Dystrophy. Dentatorubral-Pallidoluysian Atrophy: I. Kondo, Clinical Aspects of DRPLA. S. Tsuji, Molecular Genetics of Dentatorubral-Pallidoluysian Atrophy (DRPLA). J. Vance, The Allelic Variant: HAW River Syndrome. Spinocerebellar Ataxia Type 1: S.H. Subramony and P.J.S. Vig, Clinical Apsects of SCA-1. B.T. Koshy, A. Matilla, and H.Y. Zoghbi, Genetic Studies of the SCA1 Gene and Biochemical Work of the Ataxin. D. Kaytor and H.T. Orr, Murine Model of SCA1: Repeat Instability and Neurobiology. Other Dominant Spinocerebellar Ataxias: S-M. Pulst, Spinocerebellar Ataxia Type 2. G. David, N. Abbas, A. Durr, G. Stevanin, G. Cancel, C. Yvert, G. Imbert, F. Saudou, J-L. Mandel, Y. Agid, and A. Brice, Autosomal Dominant Cerebellar Ataxia with Macular Dystrophy (SCA7) is Caused by a Highly Unstable CAG Repeat Expansion. M. Nakamoto, H. Ikeda, and A. Kakizuka, Genetic and Molecular Studies of Machado-Joseph Disease. Huntington's Disease: R.H. Meyers, K.S. Marans, and M.E. MacDonald, Huntington's Disease. A.H.M. Mahbubul Huq, A. Hackam, R.K. Graham, C.L. Wellington, and M.R. Hayden, Molecular Pathogenesis of Huntington Disease: Biochemical Studies of Huntington. G.P. Bates, E.E. Wanker, and S.W. Davies, Murine Models of Huntington's Disease. Freidreich's Ataxia: M. Pandolfo and M. Koenig, Clinical and Pathological Aspects of Freidreich Ataxia. Candidate Disorders Revealing Anticipation: M.G. McInnis and R.L. Margolis, Anticipation and Psychiatric Diseases. A.D. Paterson, D.M.J. Naimark, J.B. Vincent, J.L. Kennedy, and A. Petronis, Genetic Anticipation in Neurological and Other Disorders. Approaches to Detect Unstable Trinucleotide Repeat Loci: R.L. Margolis and C.A. Ross, Detection of Unstable Trinucleotide Repeat Loci: Genome and cDNA Screening. M. Schalling, K. Lindblad, Q-P. Yuan, C.E. Burgess, C. Zander, and T. Hudson, RED Technology. Y. Trottier, G. Zeder-Lutz, and J-L. Mandel, Selective Recognition of Proteins with Pathological Polyglutamine Tracts by a Monoclonal Antibody. K. Sanpei and S. Tsuji, DIRECT Technologies. Systems for the Study of Genetic Instabilities: A. Bacolla, R.P. Bowater, and R.D. Wells, Systems for the Study of Genetic Instabilities: Escherichia coli. S. Jinks-Robertson, C. Greene, and W. Cheng, Genetic Instabilities in Yeast. P. Steinbach, D. Wohrle, D. Glaser, and W. Vogel, Systems for the Study of Triplet Repeat Instability: Cultured Mammalian Cells. P.M. Glazer, S.E. Andrew, F.R. Jirik, and L. Narayanan, Genetic Instability in Transgenic Mice Deficient in DNA Mismatch Repair. E.P. Leeflang, S. Tavare, P. Marjoram, R. Grewal, C.O.S. Neal, and N. Arnheim, Human Germline Mutation Analysis by Single Genome PCR: Application to Dynamic Mutations. Biophysical and Structural Studies on Triplet Repeat Sequences: R. Gellibolian and A. Bacolla, Biophysical and Structural Studies on Triplet Repeat Sequences: Duplex Triplet Repeat Structures. C.E. Pearson and R.R. Sinden, Slipped Strand DNA, Dynamic Mutations, and Human Disease. X. Gao, X. Huang, G.K. Smith, and M. Zheng, Structure and Dynamics of Single Stranded Nucleic Acids Containing Trinucleotide Repeats. S.V. Santhana-Mariappan, X. Chen, P. Catasti, E.M. Bradbury, and G. Gupta, Structural Studies on the Unstable Triplet Repeats. J.D. Griffith and Y-H. Wang, Nucleosome Analyses and Diseases of Chromatin Structure. Replication-Repair of TRS: S.H. Wilson, R.K. Singhal, and B.Z. Zmudzka, Studies of DNA Polymerases in Replication-Based Repeat Expansion. L.C. Kroutil and T.A. Kunkel, DNA Replication Errors Involving Strand Misalignments. K. Ohshima and R.D. Wells, In Vitro DNA Synthesis of Triplet Repeat Sequences. Oligoglutamine Effects: H. Green and P. Djian, Amino Acid Repeats in Proteins and the Neurological Diseases Produced by Polyglutamine. C.A. Ross, R.L. Margolis, M.W. Becher, J.D. Wood, S. Engelender, and A.H. Sharp, Pathogenesis of Polyglutamine Neurodegenerative Diseases: Towards a Unifying Mechanism. Genome Instability Not Involving Triplet Repeats: S.E. Antonarakis, Expansion of a 12-mer (CCCCGCCCCGCG) Repeat in Progressive Myoclonus Epilepsy. J.M. Cunningham, L.A. Boardman, L.J. Burgart, and S.N. Thibodeau, Microsatellite Instability in Sporadic and Hereditary Non-Polyposis Colon Cancers. Overview and Summary: R.D. Wells and S.T. Warren, Future Directions. Subject Index.