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Fiona Cunningham et al.
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A selective inhibitor of the NLRP3 inflammasome as a potential therapeutic approach for neuroprotection in a transgenic mouse model of Huntington's disease
Kai-Po Chen et al.
JOURNAL OF NEUROINFLAMMATION (2022)
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Quetzalli D. Angeles-Lopez et al.
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miRDB: an online database for prediction of functional microRNA targets
Yuhao Chen et al.
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QTLbase: an integrative resource for quantitative trait loci across multiple human molecular phenotypes
Zhanye Zheng et al.
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Single-nucleus RNA-seq identifies Huntington disease astrocyte states
Osama Al-Dalahmah et al.
ACTA NEUROPATHOLOGICA COMMUNICATIONS (2020)
Cell Type-Specific Transcriptomics Reveals that Mutant Huntingtin Leads to Mitochondrial RNA Release and Neuronal Innate Immune Activation
Hyeseung Lee et al.
NEURON (2020)
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Jolene Ooi et al.
CELL REPORTS (2019)
Early epigenomic and transcriptional changes reveal Elk-1 transcription factor as a therapeutic target in Huntington's disease
Ferah Yildirim et al.
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The Role of Microglia and Astrocytes in Huntington's Disease
Thulani H. Palpagama et al.
FRONTIERS IN MOLECULAR NEUROSCIENCE (2019)
COXPRESdb v7: a gene coexpression database for 11 animal species supported by 23 coexpression platforms for technical evaluation and evolutionary inference
Takeshi Obayashi et al.
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CADD: predicting the deleteriousness of variants throughout the human genome
Philipp Rentzsch et al.
NUCLEIC ACIDS RESEARCH (2019)
Deep learning sequence-based ab initio prediction of variant effects on expression and disease risk
Jian Zhou et al.
NATURE GENETICS (2018)
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene
Aude Nicolas et al.
NEURON (2018)
Chemical genetic identification of GAK substrates reveals its role in regulating Na+/K+-ATPase
Amy W. Lin et al.
LIFE SCIENCE ALLIANCE (2018)
SNP2TFBS-a database of regulatory SNPs affecting predicted transcription factor binding site affinity
Sunil Kumar et al.
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Salmon provides fast and bias-aware quantification of transcript expression
Rob Patro et al.
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A common haplotype lowers PU.1 expression in myeloid cells and delays onset of Alzheimer's disease
Kuan-lin Huang et al.
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Developmental alterations in Huntington's disease neural cells and pharmacological rescue in cells and mice
Ryan G. Lim et al.
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Huntington's Disease iPSC-Derived Brain Microvascular Endothelial Cells Reveal WNT-Mediated Angiogenic and Blood-Brain Barrier Deficits
Ryan G. Lim et al.
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stageR: a general stage-wise method for controlling the gene-level false discovery rate in differential expression and differential transcript usage
Koen Van den Berge et al.
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Genome-wide association study identifies four novel loci associated with Alzheimer's endophenotypes and disease modifiers
Yuetiva Deming et al.
ACTA NEUROPATHOLOGICA (2017)
A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants
Lars G. Fritsche et al.
NATURE GENETICS (2016)
KEGG as a reference resource for gene and protein annotation
Minoru Kanehisa et al.
NUCLEIC ACIDS RESEARCH (2016)
A spectral approach integrating functional genomic annotations for coding and noncoding variants
Iuliana Ionita-Laza et al.
NATURE GENETICS (2016)
RNA Sequence Analysis of Human Huntington Disease Brain Reveals an Extensive Increase in Inflammatory and Developmental Gene Expression (vol 10, e0143563, 2015)
Adam Labadorf et al.
PLOS ONE (2016)
A method for calculating probabilities of fitness consequences for point mutations across the human genome
Brad Gulko et al.
NATURE GENETICS (2015)
Predicting effects of noncoding variants with deep learning-based sequence model
Jian Zhou et al.
NATURE METHODS (2015)
Functional annotation of noncoding sequence variants
Graham R. S. Ritchie et al.
NATURE METHODS (2014)
PolymiRTS Database 3.0: linking polymorphisms in microRNAs and their target sites with human diseases and biological pathways
Anindya Bhattacharya et al.
NUCLEIC ACIDS RESEARCH (2014)
Moderated estimation of fold change and dispersion for RNA-seq data with DESeq2
Michael I. Love et al.
GENOME BIOLOGY (2014)
Kinase Signalling in Huntington's Disease
Kathryn R. Bowles et al.
JOURNAL OF HUNTINGTONS DISEASE (2014)
FunSeq2: a framework for prioritizing noncoding regulatory variants in cancer
Yao Fu et al.
GENOME BIOLOGY (2014)
STAR: ultrafast universal RNA-seq aligner
Alexander Dobin et al.
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Predicting the Functional, Molecular, and Phenotypic Consequences of Amino Acid Substitutions using Hidden Markov Models
Hashem A. Shihab et al.
HUMAN MUTATION (2013)
Extensive changes in DNA methylation are associated with expression of mutant huntingtin
Christopher W. Ng et al.
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Targeting H3K4 trimethylation in Huntington disease
Malini Vashishtha et al.
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A novel target for Huntington's disease: ERK at the crossroads of signaling
Laszlo Bodai et al.
BIOESSAYS (2012)
InterMine: a flexible data warehouse system for the integration and analysis of heterogeneous biological data
Richard N. Smith et al.
BIOINFORMATICS (2012)
Protein aggregates in Huntington's disease
Montserrat Arrasate et al.
EXPERIMENTAL NEUROLOGY (2012)
What have we learned from gene expression profiles in Huntington's disease?
Tamara Seredenina et al.
NEUROBIOLOGY OF DISEASE (2012)
HaploReg: a resource for exploring chromatin states, conservation, and regulatory motif alterations within sets of genetically linked variants
Lucas D. Ward et al.
NUCLEIC ACIDS RESEARCH (2012)
SNPnexus: a web server for functional annotation of novel and publicly known genetic variants (2012 update)
Abu Z. Dayem Ullah et al.
NUCLEIC ACIDS RESEARCH (2012)
NGS QC Toolkit: A Toolkit for Quality Control of Next Generation Sequencing Data
Ravi K. Patel et al.
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A statistical framework for SNP calling, mutation discovery, association mapping and population genetical parameter estimation from sequencing data
Heng Li
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Inferring causative variants in microRNA target sites
Laurent F. Thomas et al.
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Manipulation of FASTQ data with Galaxy
Daniel Blankenberg et al.
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ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
Kai Wang et al.
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VarScan: variant detection in massively parallel sequencing of individual and pooled samples
Daniel C. Koboldt et al.
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ClueGO: a Cytoscape plug-in to decipher functionally grouped gene ontology and pathway annotation networks
Gabriela Bindea et al.
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The Sequence Alignment/Map format and SAMtools
Heng Li et al.
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InterPro: the integrative protein signature database
Sarah Hunter et al.
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Structure-function analysis of secreted frizzled-related protein-1 for its Wnt antagonist function
Ramesh A. Bhat et al.
JOURNAL OF CELLULAR BIOCHEMISTRY (2007)
Regional and cellular gene expression changes in human Huntington's disease brain
A Hodges et al.
HUMAN MOLECULAR GENETICS (2006)
A nuclear function of β-arrestin1 in GPCR signaling:: Regulation of histone acetylation and gene transcription
JH Kang et al.
CELL (2005)
Normal huntingtin function: An alternative approach to Huntington's disease
E Cattaneo et al.
NATURE REVIEWS NEUROSCIENCE (2005)
Loss of normal huntingtin function: new developments in Huntington's disease research
E Cattaneo et al.
TRENDS IN NEUROSCIENCES (2001)
Human PRRX1 and PRRX2 genes: cloning, expression, genomic localization, and exclusion as disease genes for Nager syndrome
RA Norris et al.
MAMMALIAN GENOME (2000)
Amino-terminal fragments of mutant huntingtin show selective accumulation in striatal neurons and synaptic toxicity
H Li et al.
NATURE GENETICS (2000)