연구동향 분석

Clinical genetic strategies for early onset neurodegenerative diseases

Vo Van Giau Eva Bagyinszky 안성수 SangYun Kim 2018년

논문상세정보
    • 저자 Vo Van Giau Eva Bagyinszky 안성수 SangYun Kim
    • 제어번호 105325550
    • 학술지명 Molecular & cellular toxicology
    • 권호사항 Vol. 14 No. 2 [ 2018 ]
    • 발행처 대한독성 유전단백체 학회
    • 자료유형 학술저널
    • 수록면 123-142
    • 언어 English
    • 출판년도 2018
    • 등재정보 KCI등재
    • 판매처
    유사주제 논문( 0)
인용/피인용

' Clinical genetic strategies for early onset neurodegenerative diseases' 의 참고문헌

  • nsSNPAnalyzer: Identifying disease-associated nonsynonymous single nucleotide polymorphisms
    Bao, L. [2005]
  • Whole genome sequencing as a diagnostic test: challenges and opportunities
  • What makes a good genetic association study?
  • Variation is the spice of life
  • Variant of TREM2 associated with the risk of Alzheimer's disease
    Jonsson, T. [2013]
  • Understanding the contribution of synonymous mutations to human disease
  • Two rare AKAP9 variants are associated with Alzheimer's disease in African Americans
  • The promise of whole-exome sequencing in medical genetics
    Rabbani, B. [2014]
  • The projected effect of risk factor reduction on Alzheimer's disease prevalence
  • The price of silent mutations
  • The neuronal sortilinrelated receptor SORL1 is genetically associated with Alzheimer disease
    Rogaeva, E. [2007]
  • The diagnosis of young-onset dementia
  • The Phyre2 web portal for protein modeling, prediction and analysis
  • The I-TASSER Suite: Protein structure and function prediction
    Yang, J. [2015]
  • The Gene Ontology and the Meaning of Biological Function
  • Ten years of next-generation sequencing technology
  • Template-based protein structure modeling using the RaptorX web server
  • Temperature-gradient gel electrophoresis. Thermodynamic analysis of nucleic acids and proteins in purified form and in cellular extract
  • Synonymous but not the same: the causes and consequences of codon bias
  • Synergistic effects of genetic variation in nicotinic and muscarinic receptors on visual attention but not working memory
  • SplicePort: an interactive splice-site analysis tool
  • Single nucleotide polymorphisms and the future of genetic epidemiology
  • Simultaneous assessment of the effects of exonic mutations on RNA splicing and protein functions
    Ho, P. Y. [2008]
  • Sensitive detection of DNA polymorphisms by the serial invasive signal amplification reaction
    Hall, J. G. [2000]
  • Segmental duplications and copy-number variation in the human genome
  • Science medicine and the future: Postgenomic technologies: hunting the genes for common disorders
    Mathew, C [2001]
  • SWISS-MODEL: modelling protein tertiary and quaternary structure using evolutionary information
    Biasini, M. [2014]
  • SNP genotyping: technologies and biomedical applications
    Kim, S. [2007]
  • SNP effect 4.0: Online prediction of molecular and structural effects of protein-coding variants
  • SNP association studies in Alzheimer's disease highlight problems for complex disease analysis
  • SNAP: predict effect of nonsynonymous polymorphisms on function
  • Role of genes and environments for explaining Alzheimer disease
    Gatz, M. [2006]
  • Role of apolipoprotein E in neurodegenerative diseases
    Giau, V. V. [2015]
  • Restriction fragment length polymorphism of the major histocompatibility complex of the dog
  • Regions of extreme synonymous codon selection in mammalian genes
  • Real-time DNA sequencing using detection of pyrophosphate release
    Ronaghi, M. [1996]
  • Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease
  • RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression
  • Pyrosequencing sheds light on DNA sequencing
    Ronaghi, M [2011]
  • Protective effect of apolipoprotein E type 2 allele for late onset Alzheimer disease
  • Predicting the functional impact of protein mutations: Applications to cancer genomics
    Reva, B. [2011]
  • Predicting the functional effect of amino acid substitutions and indels
    Choi, Y. [2012]
  • Predicting the effects of coding non-synonymouse variants on protein function using the SIFT algorithm
    Kumar, P. [2009]
  • Predicting deleterious amino acid substitutions
    Ng, P. C. [2001]
  • Practice parameter: diagnosis of dementia (an evidence-based review). Report of the Quality Standards Subcommittee of the American Academy of Neurology
  • Potential late-onset Alzheimer's disease-associated mutations in the ADAM10 gene attenuate {alpha}-secretase activity
    Kim, M. [2009]
  • Polymorphism identification and quantitative detection of genomic DNA by invasive cleavage of oligonucleotide probes
  • Polymorphic Variation in Cytochrome Oxidase Subunit Genes
    Lu, J. [2010]
  • Physicochemical constraint violation by missense substitution mediates impairment of protein function and disease severity
  • PANTHER in 2013: modeling the evolution of gene function, and other gene attributes, in the context of phylogenetic trees
    Mi, H. [2013]
  • Non-synonymous and synonymous coding SNPs show similar likelihood and effect size of human disease association
    Chen, R. [2010]
  • Next-generation diagnostics: gene panel, exome, or whole genome?
    Sun, Y. [2015]
  • Next-Generation Sequencing in Clinical Molecular Diagnostics of Cancer: Advantages and Challenges
    Luthra, R. [2015]
  • Neuropathology of Alzheimer's disease
    Perl, D. P [2010]
  • Multiple threshold model for the onset of Alzheimer's disease in the NAS-NRC twin panel
  • Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease
  • Mapping Gene Ontology to proteins based on protein-protein interaction data
    Deng, M. [2004]
  • Linkage studies in familial Alzheimer's disease: evidence for chromosome 19 linkage
  • Late-onset Alzheimer disease risk variants mark brain regulatory loci
    Allen, M. [2015]
  • Large-Scale Copy Number Polymorphism in the Human Genome
    Sebat, J. [2004]
  • LS-SNP/PDB: Annotated non-synonymous SNPs mapped to protein data bank structures
    Ryan, M. [2009]
  • In silico analysis of missense substitutions using sequence-alignment based methods
  • Improved splice site detection in Genie
  • Improved performance of pyrosequencing using single-stranded DNA-binding protein
    Ronaghi, M [2000]
  • I-Mutant2.0: Predicting stability changes upon mutation from the protein sequence or structure
  • Human catechol-O-methyltransferase haplotypes modulate protein expression by altering mRNA secondary structure
  • Human Splicing Finder: an online bioinformatics tool to predict splicing signals
  • High-density GeneChip oligonucleotide probe arrays
  • Heredity in dementia of the Alzheimer type
  • Haplotype variation and linkage disequilibrium in 313 human genes
  • HSD17B10: A gene involved in cognitive function through metabolism of isoleucine and neuroactive steroids
    Yang, S. Y. [2007]
  • Growing up in the genomic era: implications of whole-genome sequencing for children, families, and pediatric practice
    Wade, C. H. [2013]
  • Global variation in copy number in the human genome
    Redon, R. [2006]
  • Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease
    Harold, D. [2009]
  • Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease
  • Genome-wide analysis of genetic loci associated with Alzheimer disease
  • Genome sequencing in microfabricated high-density picolitre reactors
  • Genetic study of familial cases of Alzheimer's disease
  • Genetic Aspects of Alzheimer Disease
    Bird. D. T [2008]
  • GeneSplicer: a new computational method for splice site prediction
    Pertea, M. [2001]
  • Gene panels and primers for next generation sequencing studies on neurodegenerative disorders
    Vo Van Giau [2015]
  • GObar: a gene ontology based analysis and visualization tool for gene sets
    Lee, J. S. [2005]
  • Functional annotations improve the predictive score of human disease-related mutations in proteins
  • Fine-scale structural variation of the human genome
    Tuzun, E. [2005]
  • Fati-GO: a web tool for finding significant associations of Gene Ontology terms with groups of genes
  • Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene
  • F-box/LRR-repeat protein 7 is genetically associated with Alzheimer's disease
    Tosto, G. [2015]
  • Evidence for novel susceptibility genes for late-onset Alzheimer's disease from a genome-wide association study of putative functional variants
    Grupe, A. [2007]
  • Evaluating the heritability explained by known susceptibility variants: a survey of ten complex diseases
    So, H. C. [2011]
  • Enzymatic method for continuous monitoring of DNA polymerase activity
    Nyren, P [1987]
  • Effects of age, sex, and ethnicity on the association between apolipoprotein E genotype and Alzheimer disease
  • Direct molecular haplotyping of multiple polymorphisms within exon 4 of the human catechol-Omethyltransferase gene by liquid chromatography-electrospray ionization time-of-flight mass spectrometry
  • Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms
    Orita, M. [1989]
  • Detection of large-scale variation in the human genome
  • Detection of RASA1 mutations in patients with sporadic Sturge-Weber syndrome
    Zhou, Q. [2011]
  • Detecting base pair substitutions in DNA fragments by temperature-gradient gel electrophoresis
  • DNA sequencing with chain-terminating inhibitors
    Sanger, F. [1977]
  • DNA diagnostics: goals and Challenges
  • Construction of a genetic linkage map in man using restriction fragment length polymorphisms
    Botstein D [1980]
  • Complex phenotypes and complex genetics: an introduction to genetic studies of complex traits
  • Comparative analysis detects dependencies among the 5' splice-site positions
    Carmel, I. [2004]
  • Comparative Protein Structure Modeling Using Modeller
    Webb, B. [2014]
  • Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with lateonset Alzheimer's disease
    Naj, A. C. [2011]
  • Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease
  • Common genetic variations in human brain-specific tryptophan hydroxylase-2 and response to antidepressant treatment
  • ClueGO: a Cytoscape plug-in to decipher functionally grouped gene ontology and pathway annotation networks
    Bindea, G. [2009]
  • Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease
  • Candidate gene for the chromosome 1 familial Alzheimer's disease locus
  • Association study of 10 genes encoding neurotrophic factors and their receptors in adult and child attention-deficit/hyperactivity disorder
    Ribases, M. [2008]
  • Association study designs for complex diseases
  • Assessment of amyloid <TEX>${\beta}$</TEX>-protein precursor gene mutations in a large set of familial and sporadic Alzheimer disease cases
  • Approaches to identify genes for complex human diseases: Lessons from Mendelian disorders
    Dean, M [2003]
  • Application of massively parallel sequencing in the clinical diagnostic testing of inherited cardiac conditions
  • Apolipoprotein E: highavidity binding to beta-amyloid and increased frequency of type 4 allele in late-onset familial Alzheimer disease
  • Apolipoprotein E4 allele and Alzheimer disease: examination of allelic association and effect on age at onset in both early- and late-onset cases
  • Apolipoprotein E immunoreactivity in cerebral amyloid deposits and neurofibrillary tangles in Alzheimer's disease and cru plaque amyloid in Creutzfeldt-Jakob disease
    Namba, Y. [1991]
  • Alzheimer’s disease : genes, proteins, and therapy
    Selkoe D. J [2001]
  • Alzheimer disease in the US population: prevalence estimates using the 2000 census
  • Accounting for human polymorphisms predicted to affect protein function
    Ng, P. C. [2002]
  • A two-stage case-control association study of PADI2 with schizophrenia
  • A method and server for predicting damaging missense mutations
    Adzhubei IA [2010]
  • A ligase-mediated gene detection technique
  • A highdensity whole-genome association study reveals that APOE is the major susceptibility gene for sporadic late-onset Alzheimer's disease
    Coon, K. D. [2007]
  • A genetic variation in the ADORA2A gene modifies age at onset in Huntington's disease
  • A 'silent' polymorphism in the MDR1 gene changes substrate specificity