Papers by Xavier Estivill
Bioinformatics, Nov 2, 2015
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The European respiratory journal, Mar 19, 2008
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Journal of Medical Genetics, Apr 1, 1996
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Carolina Digital Repository (University of North Carolina at Chapel Hill), 2012
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Human Mutation, Sep 24, 2003
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Nature Genetics, May 29, 2013
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Nature Genetics, Apr 26, 2012
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Scientific Reports, Jan 27, 2022
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Pediatric Rheumatology, Sep 28, 2015
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Nature
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Neuropsychobiology, 2007
N. Brunello, Milan G. Erdmann, Berlin S. Galderisi, Naples U. Hegerl, Leipzig K. Hirata, Tochigi ... more N. Brunello, Milan G. Erdmann, Berlin S. Galderisi, Naples U. Hegerl, Leipzig K. Hirata, Tochigi Y. Koga, Tokyo J. Kornhuber, Erlangen P.T. Loosen, Nashville, Tenn. D. Lehmann, Zürich K.P. Lesch, Würzburg G.N. Papadimitriou, Athens M. Reuter, Bonn F. Rösler, Marburg G. Ruigt, Oss J.K. Rybakowski, Poznan F. Schneider, Aachen D. Souery, Brussels P. Willner, Swansea H. Yoneda, Osaka Associate Editors
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SummaryEnvironmental exposures during early life play a critical role in life-course health, yet ... more SummaryEnvironmental exposures during early life play a critical role in life-course health, yet the molecular phenotypes underlying environmental effects on health are poorly understood. In the Human Early Life Exposome (HELIX) project, a multi-centre cohort of 1,301 mother-child pairs, we associated individual exposomes consisting of >100 chemical, physical and lifestyle exposures assessed in pregnancy and childhood, with multi-omics profiles (methylome, transcriptome, metabolome and proteins) in childhood. We identified 1,170 associations, 249 in pregnancy and 921 in childhood, which revealed potential biological responses and sources of exposure. The methylome best captures the persistent influence of pregnancy exposures, including maternal smoking; while childhood exposures were associated with features from all omics layers, revealing novel signatures for indoor air quality, essential trace elements, endocrine disruptors and weather conditions. This study provides a unique ...
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Haematologica, 2020
Transcriptional profiling of hematopoietic cell subpopulations has helped to characterize the dev... more Transcriptional profiling of hematopoietic cell subpopulations has helped to characterize the developmental stages of the hematopoietic system and the molecular bases of malignant and non-malignant blood diseases. Previously, only the genes targeted by expression microarrays could be profiled genome-wide. High-throughput RNA sequencing, however, encompasses a broader repertoire of RNA molecules, without restriction to previously annotated genes. We analyzed the BLUEPRINT consortium RNA-sequencing data for mature hematopoietic cell types. The data comprised 90 total RNA-sequencing samples, each composed of one of 27 cell types, and 32 small RNA-sequencing samples, each composed of one of 11 cell types. We estimated gene and isoform expression levels for each cell type using existing annotations from Ensembl. We then used guided transcriptome assembly to discover unannotated transcripts. We identified hundreds of novel non-coding RNA genes and showed that the majority have cell type-d...
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BMC Medicine, 2020
BackgroundThe adverse health effects of early life exposure to tobacco smoking have been widely r... more BackgroundThe adverse health effects of early life exposure to tobacco smoking have been widely reported. In spite of this, the underlying molecular mechanisms of in utero and postnatal exposure to tobacco smoke are only partially understood. Here, we aimed to identify multi-layer molecular signatures associated with exposure to tobacco smoke in these two exposure windows.MethodsWe investigated the associations of maternal smoking during pregnancy and childhood secondhand smoke (SHS) exposure with molecular features measured in 1203 European children (mean age 8.1 years) from the Human Early Life Exposome (HELIX) project. Molecular features, covering 4 layers, included blood DNA methylation and gene and miRNA transcription, plasma proteins, and sera and urinary metabolites.ResultsMaternal smoking during pregnancy was associated with DNA methylation changes at 18 loci in child blood. DNA methylation at 5 of these loci was related to expression of the nearby genes. However, the expres...
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ABSTRACTAlthough the etiology of obsessive-compulsive disorder (OCD) is largely unknown, it is ac... more ABSTRACTAlthough the etiology of obsessive-compulsive disorder (OCD) is largely unknown, it is accepted that OCD is a complex disorder. There is a known bi-directional interaction between the gut microbiome and brain activity. Several authors have reported associations between changes in gut microbiota and neuropsychiatric disorders, including depression or autism. Furthermore, a pediatric-onset neuropsychiatric OCD-related syndrome occurs after streptococcal infection, which might indicate that exposure to certain microbes could be involved in OCD susceptibility. However, only one study has investigated the microbiome of OCD patients to date. We performed 16S ribosomal RNA gene-based metagenomic sequencing to analyze the stool and oropharyngeal microbiome composition of 32 OCD cases and 32 age and gender matched controls. We estimated different α- and β-diversity measures and performed LEfSe and Wilcoxon tests to assess differences in bacterial distribution. OCD stool samples showe...
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British Journal of Dermatology, 2019
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Transcriptional profiling of hematopoietic cell subpopulations has helped characterize the develo... more Transcriptional profiling of hematopoietic cell subpopulations has helped characterize the developmental stages of the hematopoietic system and the molecular basis of malignant and non-malignant blood diseases for the past three decades. The introduction of high-throughput RNA sequencing has increased knowledge of the full repertoire of RNA molecules in hematopoietic cells of different types, without relying on prior gene annotation. Here, we introduce the analysis of the BLUEPRINT consortium gene expression data for mature hematopoietic cells, comprising 90 total RNA and 32 small RNA sequencing experiments, from 27 different cell types. We used these data to describe the transcriptional profile of each we used guided transcriptome assembly to extend the annotation of the transcribed genome, which led to the identification of hundreds of novel non-coding RNA genes, which display a high degree of cell type specificity. We also characterized the expression of circular RNAs and found t...
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European Journal of Epidemiology, 2019
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Human Mutation, 2019
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Gene, 2019
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Papers by Xavier Estivill