Cargando…

Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information

Genome-wide association studies have generated an increasing number of common genetic variants associated with neurological and psychiatric disease risk. An improved understanding of the genetic control of gene expression in human brain is vital considering this is the likely modus operandum for man...

Descripción completa

Detalles Bibliográficos
Autores principales:	Guelfi, Sebastian, D’Sa, Karishma, Botía, Juan A., Vandrovcova, Jana, Reynolds, Regina H., Zhang, David, Trabzuni, Daniah, Collado-Torres, Leonardo, Thomason, Andrew, Quijada Leyton, Pedro, Gagliano Taliun, Sarah A., Nalls, Mike A., Small, Kerrin S., Smith, Colin, Ramasamy, Adaikalavan, Hardy, John, Weale, Michael E., Ryten, Mina
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2020
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7042265/ https://www.ncbi.nlm.nih.gov/pubmed/32098967 http://dx.doi.org/10.1038/s41467-020-14483-x

Ejemplares similares

Analysis of subcellular RNA fractions demonstrates significant genetic regulation of gene expression in human brain post-transcriptionally
por: D’Sa, Karishma, et al.
Publicado: (2023)

An additional k-means clustering step improves the biological features of WGCNA gene co-expression networks
por: Botía, Juan A., et al.
Publicado: (2017)

Quality control parameters on a large dataset of regionally dissected human control brains for whole genome expression studies
por: Trabzuni, Daniah, et al.
Publicado: (2011)

Widespread sex differences in gene expression and splicing in the adult human brain
por: Trabzuni, Daniah, et al.
Publicado: (2013)

Genetic evidence for a pathogenic role for the vitamin D3 metabolizing enzyme CYP24A1 in multiple sclerosis()
por: Ramasamy, Adaikalavan, et al.
Publicado: (2014)

Assessment of common variability and expression quantitative trait loci for genome-wide associations for progressive supranuclear palsy
por: Ferrari, Raffaele, et al.
Publicado: (2014)

Corrigendum to “Assessment of common variability and expression quantitative trait loci for genome-wide associations for progressive supranuclear palsy.” [Neurobiol. Aging 35 (2014) 1514.e1–1514.e12]
por: Ferrari, Raffaele, et al.
Publicado: (2015)

Moving beyond neurons: the role of cell type-specific gene regulation in Parkinson’s disease heritability
por: Reynolds, Regina H., et al.
Publicado: (2019)

Human-lineage-specific genomic elements are associated with neurodegenerative disease and APOE transcript usage
por: Chen, Zhongbo, et al.
Publicado: (2021)

Insights into TREM2 biology by network analysis of human brain gene expression data
por: Forabosco, Paola, et al.
Publicado: (2013)

Frontotemporal dementia: insights into the biological underpinnings of disease through gene co-expression network analysis
por: Ferrari, Raffaele, et al.
Publicado: (2016)

MAPT expression and splicing is differentially regulated by brain region: relation to genotype and implication for tauopathies
por: Trabzuni, Daniah, et al.
Publicado: (2012)

Identification of Candidate Parkinson Disease Genes by Integrating Genome-Wide Association Study, Expression, and Epigenetic Data Sets
por: Kia, Demis A., et al.
Publicado: (2021)

Resolving the polymorphism-in-probe problem is critical for correct interpretation of expression QTL studies
por: Ramasamy, Adaikalavan, et al.
Publicado: (2013)

Informing disease modelling with brain-relevant functional genomic annotations
por: Reynolds, Regina H, et al.
Publicado: (2019)

Incomplete annotation has a disproportionate impact on our understanding of Mendelian and complex neurogenetic disorders
por: Zhang, David, et al.
Publicado: (2020)

Increased brain expression of GPNMB is associated with genome wide significant risk for Parkinson’s disease on chromosome 7p15.3
por: Murthy, Megha N., et al.
Publicado: (2017)

Fine-Mapping, Gene Expression and Splicing Analysis of the Disease Associated LRRK2 Locus
por: Trabzuni, Daniah, et al.
Publicado: (2013)

Investigating the utility of human embryonic stem cell-derived neurons to model ageing and neurodegenerative disease using whole-genome gene expression and splicing analysis
por: Patani, Rickie, et al.
Publicado: (2012)

Dystonia genes functionally converge in specific neurons and share neurobiology with psychiatric disorders
por: Mencacci, Niccolò E, et al.
Publicado: (2020)

Recursive splicing in long vertebrate genes
por: Sibley, Christopher R, et al.
Publicado: (2015)

Genomics implicates adaptive and innate immunity in Alzheimer's and Parkinson's diseases
por: Gagliano, Sarah A., et al.
Publicado: (2016)

Major Shifts in Glial Regional Identity Are a Transcriptional Hallmark of Human Brain Aging
por: Soreq, Lilach, et al.
Publicado: (2017)

Regional genetic correlations highlight relationships between neurodegenerative disease loci and the immune system
por: Lona-Durazo, Frida, et al.
Publicado: (2023)

Integration of GWAS SNPs and tissue specific expression profiling reveal discrete eQTLs for human traits in blood and brain
por: Hernandez, Dena G., et al.
Publicado: (2012)

Local genetic correlations exist among neurodegenerative and neuropsychiatric diseases
por: Reynolds, Regina H., et al.
Publicado: (2023)

Author Correction: Local genetic correlations exist among neurodegenerative and neuropsychiatric diseases
por: Reynolds, Regina H., et al.
Publicado: (2023)

Genetic determinants of low vitamin B12 levels in Alzheimer's disease risk
por: Gagliano Taliun, Sarah A.
Publicado: (2019)

Insights into the Influence of Specific Splicing Events on the Structural Organization of LRRK2
por: Vlachakis, Dimitrios, et al.
Publicado: (2018)

Leveraging omic features with F3UTER enables identification of unannotated 3’UTRs for synaptic genes
por: Sethi, Siddharth, et al.
Publicado: (2022)

Modeling multifunctionality of genes with secondary gene co-expression networks in human brain provides novel disease insights
por: Sánchez, Juan A, et al.
Publicado: (2021)

Lipid-lowering drug targets and Parkinson's disease: A sex-specific Mendelian randomization study
por: Zhao, Yangfan, et al.
Publicado: (2022)

Genetically predicted waist-to-hip circumference ratio and coronary artery disease: A sex-specific Mendelian randomization study
por: Ye, Qiang, et al.
Publicado: (2023)

Regulation of mitophagy by the NSL complex underlies genetic risk for Parkinson’s disease at 16q11.2 and MAPT H1 loci
por: Soutar, Marc P M, et al.
Publicado: (2022)

Gene expression changes with age in skin, adipose tissue, blood and brain
por: Glass, Daniel, et al.
Publicado: (2013)

Ten simple rules for conducting a mendelian randomization study
por: Gagliano Taliun, Sarah A., et al.
Publicado: (2021)

Mutations in HPCA Cause Autosomal-Recessive Primary Isolated Dystonia
por: Charlesworth, Gavin, et al.
Publicado: (2015)

Author Correction: Genome-wide human brain eQTLs: In-depth analysis and insights using the UKBEC dataset
por: Sng, Letitia M. F., et al.
Publicado: (2020)

Comparison Between Expression Microarrays and RNA-Sequencing Using UKBEC Dataset Identified a trans-eQTL Associated with MPZ Gene in Substantia Nigra
por: Sng, Letitia M.F., et al.
Publicado: (2020)

Genome-wide human brain eQTLs: In-depth analysis and insights using the UKBEC dataset
por: Sng, Letitia M. F., et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_4tg3ucfcgaoqb0579jgld0lg12