Filtros de búsqueda

Lista de obras de Peter A.C. 't Hoen

204th ENMC International Workshop on Biomarkers in Duchenne Muscular Dystrophy 24-26 January 2014, Naarden, The Netherlands

artículo científico publicado en 2015

A 3 months mild functional test regime does not affect disease parameters in young mdx mice.

artículo científico publicado en 2010

A SNP panel for identification of DNA and RNA specimens

artículo científico publicado en 2018

A characterization of cis- and trans-heritability of RNA-Seq-based gene expression

scientific article published on 26 September 2019

A comprehensive atlas of fetal splicing patterns in the brain of adult myotonic dystrophy type 1 patients

artículo científico publicado en 2022

A decline in PABPN1 induces progressive muscle weakness in oculopharyngeal muscle dystrophy and in muscle aging

artículo científico publicado en 2013

A promoter-level mammalian expression atlas

artículo científico publicado en 2014

Accounting for immunoprecipitation efficiencies in the statistical analysis of ChIP-seq data

artículo científico publicado en 2013

Accurate quantification of dystrophin mRNA and exon skipping levels in duchenne muscular dystrophy.

artículo científico publicado en 2010

Addendum: The FAIR Guiding Principles for scientific data management and stewardship

article by Mark D Wilkinson et al published 19 March 2019 in Scientific Data

Affinity proteomics within rare diseases: a BIO-NMD study for blood biomarkers of muscular dystrophies

artículo científico publicado en 2014

Age-related accrual of methylomic variability is linked to fundamental ageing mechanisms

artículo científico publicado en 2016

Aging as accelerated accumulation of somatic variants: whole-genome sequencing of centenarian and middle-aged monozygotic twin pairs

artículo científico publicado en 2013

Alternative mRNA transcription, processing, and translation: insights from RNA sequencing

artículo científico publicado en 2015

An alanine expanded PABPN1 causes increased utilization of intronic polyadenylation sites

artículo científico publicado en 2017

Antisense oligonucleotide mediated exon skipping as a potential strategy for the treatment of a variety of inflammatory diseases such as rheumatoid arthritis

artículo científico publicado en 2012

Antisense-oligonucleotide mediated exon skipping in activin-receptor-like kinase 2: inhibiting the receptor that is overactive in fibrodysplasia ossificans progressiva

artículo científico publicado en 2013

Author Correction: Timing and localization of human dystrophin isoform expression provide insights into the cognitive phenotype of Duchenne muscular dystrophy

artículo científico publicado en 2018

Automated workflow-based exploitation of pathway databases provides new insights into genetic associations of metabolite profiles

artículo científico publicado en 2013

Autosomal genetic variation is associated with DNA methylation in regions variably escaping X-chromosome inactivation

scientific article published in Nature Communications

B15 CTCF in Huntington's disease

BMP antagonists enhance myogenic differentiation and ameliorate the dystrophic phenotype in a DMD mouse model

artículo científico publicado en 2010

Benchmarking deep learning splice prediction tools using functional splice assays

artículo científico publicado en 2021

Blood lipids influence DNA methylation in circulating cells

artículo científico publicado en 2016

Brain Transcriptomic Analysis of Hereditary Cerebral Hemorrhage With Amyloidosis-Dutch Type.

artículo científico publicado en 2018

CORE_TF: a user-friendly interface to identify evolutionary conserved transcription factor binding sites in sets of co-regulated genes

artículo científico publicado en 2008

Calpain 3 is a rapid-action, unidirectional proteolytic switch central to muscle remodeling

artículo científico publicado en 2010

Can subtle changes in gene expression be consistently detected with different microarray platforms?

artículo científico publicado en 2008

Cell-type specific regulation of myostatin signaling

artículo científico publicado en 2011

Coexpression network analysis identifies transcriptional modules related to proastrocytic differentiation and sprouty signaling in glioma.

artículo científico publicado en 2010

Combined effect of AAV-U7-induced dystrophin exon skipping and soluble activin Type IIB receptor in mdx mice

artículo científico publicado en 2012

Common pathological mechanisms in mouse models for muscular dystrophies

article

Comparison of skeletal muscle pathology and motor function of dystrophin and utrophin deficient mouse strains

scholarly article by Maaike van Putten et al published May 2012 in Neuromuscular Disorders

Comprehensive gene-expression survey identifies wif1 as a modulator of cardiomyocyte differentiation

artículo científico publicado en 2010

Computational approaches for the analysis of RNA-protein interactions: A primer for biologists

scientific article published on 19 November 2018

Consistency of biological networks inferred from microarray and sequencing data

artículo científico publicado en 2016

Cortical Spreading Depression Causes Unique Dysregulation of Inflammatory Pathways in a Transgenic Mouse Model of Migraine

artículo científico

Csde1 binds transcripts involved in protein homeostasis and controls their expression in an erythroid cell line.

artículo científico publicado en 2018

DMD transcript imbalance determines dystrophin levels

artículo científico publicado en 2013

Deep sequencing of RNA from immune cell-derived vesicles uncovers the selective incorporation of small non-coding RNA biotypes with potential regulatory functions

artículo científico publicado en 2012

DeepSAGE reveals genetic variants associated with alternative polyadenylation and expression of coding and non-coding transcripts

artículo científico publicado en 2013

Deregulation of the ubiquitin-proteasome system is the predominant molecular pathology in OPMD animal models and patients

artículo científico publicado en 2011

Despite differential gene expression profiles pediatric MDS derived mesenchymal stromal cells display functionality in vitro

artículo científico publicado en 2015

Determining the quality and complexity of next-generation sequencing data without a reference genome

artículo científico publicado en 2014

Disease variants alter transcription factor levels and methylation of their binding sites

artículo científico publicado en 2016

Downregulation of the acetyl-CoA metabolic network in adipose tissue of obese diabetic individuals and recovery after weight loss.

artículo científico publicado en 2014

Drug Repositioning through Systematic Mining of Gene Coexpression Networks in Cancer

artículo científico publicado en 2016

Dual exon skipping in myostatin and dystrophin for Duchenne muscular dystrophy

artículo científico publicado en 2011

Dysfunctional transcripts are formed by alternative polyadenylation in OPMD.

artículo científico publicado en 2017

Evaluation of serum MMP-9 as predictive biomarker for antisense therapy in Duchenne.

artículo científico publicado en 2017

Exploiting the full power of temporal gene expression profiling through a new statistical test: application to the analysis of muscular dystrophy data

artículo científico publicado en 2006

Exploring the transcriptome of ciliated cells using in silico dissection of human tissues

artículo científico publicado en 2012

F03 Whole blood SAGE digital gene expression profiling from Huntington's disease patients

article

FAIR Genomes metadata schema promoting Next Generation Sequencing data reuse in Dutch healthcare and research

artículo científico publicado en 2022

Fcγ receptor IIb strongly regulates Fcγ receptor-facilitated T cell activation by dendritic cells

artículo científico publicado en 2012

Fibronectin is a serum biomarker for Duchenne muscular dystrophy

Fluorescent labelling of cRNA for microarray applications

artículo científico publicado en 2003

Full-length mRNA sequencing uncovers a widespread coupling between transcription initiation and mRNA processing

artículo científico publicado en 2018

Gateways to the FANTOM5 promoter level mammalian expression atlas

artículo científico publicado en 2015

Gene expression profiling highlights defective myogenesis in DMD patients and a possible role for bone morphogenetic protein 4.

artículo científico publicado en 2006

Gene expression profiling to monitor therapeutic and adverse effects of antisense therapies for Duchenne muscular dystrophy.

artículo científico publicado en 2006

Gene expression variation between mouse inbred strains

artículo científico publicado en 2004

Gene-expression and in vitro function of mesenchymal stromal cells are affected in juvenile myelomonocytic leukemia

artículo científico publicado en 2015

Generation and Characterization of Transgenic Mice with the Full-length HumanDMDGene

artículo científico publicado en 2007

Generic information can retrieve known biological associations: implications for biomedical knowledge discovery.

artículo científico publicado en 2013

Genetic variation in T-box binding element functionally affects SCN5A/SCN10A enhancer

artículo científico publicado en 2012

Genetics of the human metabolome, what is next?

artículo científico publicado en 2014

Genome-wide assessment of differential roles for p300 and CBP in transcription regulation

artículo científico publicado en 2010

Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels

artículo científico publicado en 2015

Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure

artículo científico publicado en 2011

Genome-wide identification of directed gene networks using large-scale population genomics data

scientific article published in Nature Communications

Genome-wide identification of genes regulating DNA methylation using genetic anchors for causal inference

artículo científico publicado en 2020

Huntington's disease biomarker progression profile identified by transcriptome sequencing in peripheral blood

artículo científico publicado en 2015

Huntington’s disease blood and brain show a common gene expression pattern and share an immune signature with Alzheimer’s disease

artículo científico publicado en 2017

Identification of context-dependent expression quantitative trait loci in whole blood

artículo científico publicado en 2016

Identifying a gene expression signature of cluster headache in blood

artículo científico publicado en 2017

Immune stimuli shape the small non-coding transcriptome of extracellular vesicles released by dendritic cells

artículo científico publicado en 2018

In silico discovery and experimental validation of new protein-protein interactions

artículo científico publicado en 2011

Increased sensitivity of next generation sequencing-based expression profiling after globin reduction in human blood RNA.

artículo científico publicado en 2012

Increasing phenotypic annotation improves the diagnostic rate of exome sequencing in a rare neuromuscular disorder

scientific article published on 23 June 2019

Inhibition of IL-1 Signaling by Antisense Oligonucleotide-mediated Exon Skipping of IL-1 Receptor Accessory Protein (IL-1RAcP).

artículo científico publicado en 2013

Insight in genome-wide association of metabolite quantitative traits by exome sequence analyses

artículo científico publicado en 2015

Integrated analysis of microRNA and mRNA expression: adding biological significance to microRNA target predictions

artículo científico publicado en 2013

Integration of targeted metabolomics and transcriptomics identifies deregulation of phosphatidylcholine metabolism in Huntington's disease peripheral blood samples

artículo científico publicado en 2016

Intensity-based analysis of two-colour microarrays enables efficient and flexible hybridization designs.

artículo científico

Interspecies translation of disease networks increases robustness and predictive accuracy.

artículo científico publicado en 2011

Joint modeling of ChIP-seq data via a Markov random field model

artículo científico publicado en 2013

LPAR1 and ITGA4 regulate peripheral blood monocyte counts

Large-scale gene expression analysis of human skeletal myoblast differentiation.

artículo científico publicado en 2004

Large-scale plasma metabolome analysis reveals alterations in HDL metabolism in migraine

scientific article published on 03 April 2019

Literature-aided interpretation of gene expression data with the weighted global test

artículo científico publicado en 2010

Literature-aided meta-analysis of microarray data: a compendium study on muscle development and disease

artículo científico publicado en 2008

Literature-based priors for gene regulatory networks.

artículo científico publicado en 2009

Low dystrophin levels increase survival and improve muscle pathology and function in dystrophin/utrophin double-knockout mice

artículo científico publicado en 2013

Meeting on data sharing for Duchenne 21-22 March 2019 Amsterdam, the Netherlands

artículo científico publicado en 2019

Meta-analysis of polycystic kidney disease expression profiles defines strong involvement of injury repair processes.

artículo científico publicado en 2017

Microarray retriever: a web-based tool for searching and large scale retrieval of public microarray data

artículo científico publicado en 2008

Molecular and phenotypic characterization of a mouse model of oculopharyngeal muscular dystrophy reveals severe muscular atrophy restricted to fast glycolytic fibres

artículo científico publicado en 2010

Molecular signatures of age-associated chronic degeneration of shoulder muscles

artículo científico publicado en 2016

Muscle regeneration in dystrophin-deficient mdx mice studied by gene expression profiling

artículo científico publicado en 2005

New methods for next generation sequencing based microRNA expression profiling

artículo científico publicado en 2010

Non-sequential and multi-step splicing of the dystrophin transcript.

artículo científico publicado en 2015

Novel Ex Vivo Culture Method for the Study of Dupuytren's Disease: Effects of TGFβ Type 1 Receptor Modulation by Antisense Oligonucleotides

artículo científico publicado en 2014

Novel protein-protein interactions inferred from literature context

artículo científico publicado en 2009

Overactive bone morphogenetic protein signaling in heterotopic ossification and Duchenne muscular dystrophy

artículo científico publicado en 2013

P1.44 Development of heart failure in mice with low dystrophin levels

P1.52 BIO-NMD: Discovery and validation of biomarkers for neuromuscular diseases (NMDs) – An EU funded FP7 project

P2.44 Accelerated skeletal muscle ageing is a molecular signature in OPMD

P4.29 Differential tissue expression and decay of dystrophin mRNA and protein

PASSion: a pattern growth algorithm-based pipeline for splice junction detection in paired-end RNA-Seq data

artículo científico publicado en 2012

PhD7Faster: predicting clones propagating faster from the Ph.D.-7 phage display peptide library

artículo científico publicado en 2014

Phage display screening without repetitious selection rounds

artículo científico publicado en 2011

Phenopackets for the Semantic Web

Poly(A) binding protein nuclear 1 levels affect alternative polyadenylation

artículo científico publicado en 2012

Prorenin Induces Intracellular Signaling in Cardiomyocytes Independently of Angiotensin II

scientific article published on 28 August 2006

Proteomic analysis of the dysferlin protein complex unveils its importance for sarcolemmal maintenance and integrity

artículo científico publicado en 2010

RNA sequencing: from tag-based profiling to resolving complete transcript structure

artículo científico publicado en 2014

Rare disease research workflow using multilayer networks elucidates the molecular determinants of severity in Congenital Myasthenic Syndromes

artículo científico publicado en 2024

Regulation of skeletal muscle energy/nutrient-sensing pathways during metabolic adaptation to fasting in healthy humans.

artículo científico publicado en 2014

Relative power and sample size analysis on gene expression profiling data.

artículo científico publicado en 2009

Repeated FcεRI triggering reveals modified mast cell function related to chronic allergic responses in tissue

article

Reproducibility of high-throughput mRNA and small RNA sequencing across laboratories

artículo científico publicado en 2013

Response to: Evaluation of the serum matrix metalloproteinase-9 as a biomarker for monitoring disease progression in Duchenne muscular dystrophy

article

Ribosome profiling uncovers selective mRNA translation associated with eIF2 phosphorylation in erythroid progenitors

artículo científico publicado en 2018

Roux-en-Y gastric bypass surgery, but not calorie restriction, reduces plasma branched-chain amino acids in obese women independent of weight loss or the presence of type 2 diabetes

artículo científico publicado en 2014

Selection of effective antisense oligodeoxynucleotides with a green fluorescent protein-based assay. Discovery of selective and potent inhibitors of glutathione S-transferase Mu expression

scientific journal article

Serum protein profiling in mice: identification of Factor XIIIa as a potential biomarker for muscular dystrophy

artículo científico publicado en 2008

Skewed X-inactivation is common in the general female population

artículo científico publicado en 2018

Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

artículo científico publicado en 2021

SplicePie: a novel analytical approach for the detection of alternative, non-sequential and recursive splicing

artículo científico publicado en 2015

SplicePie: a novel analytical approach for the detection of alternative, non-sequential and recursive splicing

artículo científico publicado en 2015

Structuring research methods and data with the research object model: genomics workflows as a case study

artículo científico publicado en 2014

Systematic genomic and translational efficiency studies of uveal melanoma

artículo científico publicado en 2017

Systematic identification of trans eQTLs as putative drivers of known disease associations

artículo científico publicado en 2013

T-box transcription factor TBX3 reprogrammes mature cardiac myocytes into pacemaker-like cells.

artículo científico publicado en 2012

T.P.26 Low dystrophin levels increase survival and improve pathology and motor function in dystrophin/utrophin double knockout mice

scholarly article by M. van Putten et al published October 2012 in Neuromuscular Disorders

TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy

artículo científico publicado en 2020

Targeting TGF-β Signaling by Antisense Oligonucleotide-mediated Knockdown of TGF-β Type I Receptor

artículo científico publicado en 2014

Tbx2 and Tbx3 induce atrioventricular myocardial development and endocardial cushion formation

artículo científico publicado en 2011

Ten quick tips for building FAIR workflows

artículo científico publicado en 2023

The FAIR Guiding Principles for scientific data management and stewardship

artículo científico publicado en 2016

The Implicitome: A Resource for Rationalizing Gene-Disease Associations

artículo científico publicado en 2016

The de novo FAIRification process of a registry for vascular anomalies

artículo científico publicado en 2021

The distinct transcriptomes of slow and fast adult muscles are delineated by noncoding RNAs.

artículo científico publicado en 2017

The effects of low levels of dystrophin on mouse muscle function and pathology

artículo científico publicado en 2012

The identification of informative genes from multiple datasets with increasing complexity

artículo científico publicado en 2010

Timing and localization of human dystrophin isoform expression provide insights into the cognitive phenotype of Duchenne muscular dystrophy

artículo científico publicado en 2017

Tissue-specific transcript annotation and expression profiling with complementary next-generation sequencing technologies.

artículo científico publicado en 2010

Transcriptional profiling and biomarker identification reveal tissue specific effects of expanded ataxin-3 in a spinocerebellar ataxia type 3 mouse model.

artículo científico publicado en 2018

Transcriptome and genome sequencing uncovers functional variation in humans

artículo científico publicado en 2013

Tumor cell migration screen identifies SRPK1 as breast cancer metastasis determinant

artículo científico publicado en 2015

Unraveling the polygenic architecture of complex traits using blood eQTL meta-analysis

scholarly article published 19 October 2018

Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing SPP1 and LTBP4 variants

artículo científico publicado en 2014