Cargando…

Human-lineage-specific genomic elements are associated with neurodegenerative disease and APOE transcript usage

Knowledge of genomic features specific to the human lineage may provide insights into brain-related diseases. We leverage high-depth whole genome sequencing data to generate a combined annotation identifying regions simultaneously depleted for genetic variation (constrained regions) and poorly conse...

Descripción completa

Detalles Bibliográficos
Autores principales:	Chen, Zhongbo, Zhang, David, Reynolds, Regina H., Gustavsson, Emil K., García-Ruiz, Sonia, D’Sa, Karishma, Fairbrother-Browne, Aine, Vandrovcova, Jana, Hardy, John, Houlden, Henry, Gagliano Taliun, Sarah A., Botía, Juan, Ryten, Mina
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2021
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8024253/ https://www.ncbi.nlm.nih.gov/pubmed/33824317 http://dx.doi.org/10.1038/s41467-021-22262-5

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)

Mitochondrial-nuclear cross-talk in the human brain is modulated by cell type and perturbed in neurodegenerative disease
por: Fairbrother-Browne, Aine, et al.
Publicado: (2021)

IntroVerse: a comprehensive database of introns across human tissues
por: García-Ruiz, Sonia, et al.
Publicado: (2022)

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

aws-s3-integrity-check: an open-source bash tool to verify the integrity of a dataset stored on Amazon S3
por: García-Ruiz, Sonia, et al.
Publicado: (2023)

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

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

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

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

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

Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information
por: Guelfi, Sebastian, et al.
Publicado: (2020)

Functional genomics provide key insights to improve the diagnostic yield of hereditary ataxia
por: Chen, Zhongbo, et al.
Publicado: (2023)

ensemblQueryR: fast, flexible and high-throughput querying of Ensembl LD API endpoints in R
por: Fairbrother-Browne, Aine, et al.
Publicado: (2023)

Reply to: No evidence supports genetic heterogeneity of neuronal intranuclear inclusion disease
por: Chen, Zhongbo, et al.
Publicado: (2020)

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

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

The phenotypic and molecular spectrum of PEHO syndrome and PEHO-like disorders
por: Salpietro, Vincenzo, et al.
Publicado: (2017)

ggtranscript: an R package for the visualization and interpretation of transcript isoforms using ggplot2
por: Gustavsson, Emil K, et al.
Publicado: (2022)

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

Cross-platform transcriptional profiling identifies common and distinct molecular pathologies in Lewy body diseases
por: Feleke, Rahel, et al.
Publicado: (2021)

Reply: Genetic heterogeneity of neuronal intranuclear inclusion disease. What about the infantile variant?
por: Yau, Wai Yan, et al.
Publicado: (2021)

Splicing accuracy varies across human introns, tissues and age
por: García-Ruiz, S, et al.
Publicado: (2023)

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

Gene co-expression networks shed light into diseases of brain iron accumulation
por: Bettencourt, Conceição, et al.
Publicado: (2016)

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

PhenoExam: gene set analyses through integration of different phenotype databases
por: Cisterna, Alejandro, et al.
Publicado: (2022)

Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination
por: Chelban, Viorica, et al.
Publicado: (2017)

CoExp: A Web Tool for the Exploitation of Co-expression Networks
por: García-Ruiz, Sonia, et al.
Publicado: (2021)

APOE alleles are associated with sex-specific structural differences in brain regions affected in Alzheimer’s disease and related dementia
por: Savignac, Chloé, et al.
Publicado: (2022)

A loss‐of‐function homozygous mutation in DDX59 implicates a conserved DEAD‐box RNA helicase in nervous system development and function
por: Salpietro, Vincenzo, et al.
Publicado: (2017)

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)

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)

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

APOE in the bullseye of neurodegenerative diseases: impact of the APOE genotype in Alzheimer’s disease pathology and brain diseases
por: Fernández-Calle, Rosalía, et al.
Publicado: (2022)

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

Picomolar concentrations of oligomeric alpha-synuclein sensitizes TLR4 to play an initiating role in Parkinson’s disease pathogenesis
por: Hughes, Craig D., et al.
Publicado: (2018)

Neuronal intranuclear inclusion disease is genetically heterogeneous
por: Chen, Zhongbo, et al.
Publicado: (2020)

The non-specific lethal complex regulates genes and pathways genetically linked to Parkinson’s disease
por: Hicks, Amy R, et al.
Publicado: (2023)

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)

Cannot write session to /tmp/vufind_sessions/sess_mnfivrvl2puakf51uhot5p5ui4