Clinical genetic strategies for early onset neurodegenerative diseases
활용도 Analysis
논문 Analysis
연구자 Analysis
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
'
Clinical genetic strategies for early onset neurodegenerative diseases' 의 참고문헌
nsSNPAnalyzer: Identifying disease-associated nonsynonymous single nucleotide polymorphisms
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
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
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
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
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
Sensitive detection of DNA polymorphisms by the serial invasive signal amplification reaction
Segmental duplications and copy-number variation in the human genome
Science medicine and the future: Postgenomic technologies: hunting the genes for common disorders
SWISS-MODEL: modelling protein tertiary and quaternary structure using evolutionary information
SNP genotyping: technologies and biomedical applications
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
Role of apolipoprotein E in neurodegenerative diseases
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
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
Protective effect of apolipoprotein E type 2 allele for late onset Alzheimer disease
Predicting the functional impact of protein mutations: Applications to cancer genomics
Predicting the functional effect of amino acid substitutions and indels
Predicting the effects of coding non-synonymouse variants on protein function using the SIFT algorithm
Predicting deleterious amino acid substitutions
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
Polymorphism identification and quantitative detection of genomic DNA by invasive cleavage of oligonucleotide probes
Polymorphic Variation in Cytochrome Oxidase Subunit Genes
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
Non-synonymous and synonymous coding SNPs show similar likelihood and effect size of human disease association
Next-generation diagnostics: gene panel, exome, or whole genome?
Next-Generation Sequencing in Clinical Molecular Diagnostics of Cancer: Advantages and Challenges
Neuropathology of Alzheimer's disease
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
Linkage studies in familial Alzheimer's disease: evidence for chromosome 19 linkage
Late-onset Alzheimer disease risk variants mark brain regulatory loci
Large-Scale Copy Number Polymorphism in the Human Genome
LS-SNP/PDB: Annotated non-synonymous SNPs mapped to protein data bank structures
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
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
Growing up in the genomic era: implications of whole-genome sequencing for children, families, and pediatric practice
Global variation in copy number in the human genome
Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease
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
GeneSplicer: a new computational method for splice site prediction
GObar: a gene ontology based analysis and visualization tool for gene sets
Functional annotations improve the predictive score of human disease-related mutations in proteins
Fine-scale structural variation of the human genome
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
Evidence for novel susceptibility genes for late-onset Alzheimer's disease from a genome-wide association study of putative functional variants
Evaluating the heritability explained by known susceptibility variants: a survey of ten complex diseases
Enzymatic method for continuous monitoring of DNA polymerase activity
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
Detection of large-scale variation in the human genome
Detection of RASA1 mutations in patients with sporadic Sturge-Weber syndrome
Detecting base pair substitutions in DNA fragments by temperature-gradient gel electrophoresis
DNA sequencing with chain-terminating inhibitors
DNA diagnostics: goals and Challenges
Construction of a genetic linkage map in man using restriction fragment length polymorphisms
Complex phenotypes and complex genetics: an introduction to genetic studies of complex traits
Comparative analysis detects dependencies among the 5' splice-site positions
Comparative Protein Structure Modeling Using Modeller
Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with lateonset Alzheimer's disease
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
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
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
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
Alzheimer’s disease : genes, proteins, and therapy
Alzheimer disease in the US population: prevalence estimates using the 2000 census
Accounting for human polymorphisms predicted to affect protein function
A two-stage case-control association study of PADI2 with schizophrenia
A method and server for predicting damaging missense mutations
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
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
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Clinical genetic strategies for early onset neurodegenerative diseases'
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