Search Results - "Thijssen, E"
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Obesity and osteoarthritis, more than just wear and tear: pivotal roles for inflamed adipose tissue and dyslipidaemia in obesity-induced osteoarthritis
Published in Rheumatology (Oxford, England) (01-04-2015)“…OA is a degenerative joint disease characterized by articular cartilage degradation, osteophyte formation, synovitis, and subchondral bone sclerosis. One of…”
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DNA methylation signatures link prenatal famine exposure to growth and metabolism
Published in Nature communications (26-11-2014)“…Periconceptional diet may persistently influence DNA methylation levels with phenotypic consequences. However, a comprehensive assessment of the…”
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MuSK IgG4 autoantibodies cause myasthenia gravis by inhibiting binding between MuSK and Lrp4
Published in Proceedings of the National Academy of Sciences - PNAS (17-12-2013)“…Myasthenia gravis (MG) is a severely debilitating autoimmune disease that is due to a decrease in the efficiency of synaptic transmission at neuromuscular…”
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Mutations in CDCA7 and HELLS cause immunodeficiency–centromeric instability–facial anomalies syndrome
Published in Nature communications (28-07-2015)“…The life-threatening Immunodeficiency, Centromeric Instability and Facial Anomalies (ICF) syndrome is a genetically heterogeneous autosomal recessive disorder…”
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Intrinsic epigenetic regulation of the D4Z4 macrosatellite repeat in a transgenic mouse model for FSHD
Published in PLoS genetics (01-04-2013)“…Facioscapulohumeral dystrophy (FSHD) is a progressive muscular dystrophy caused by decreased epigenetic repression of the D4Z4 macrosatellite repeats and…”
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SOX Antibodies in Small-Cell Lung Cancer and Lambert-Eaton Myasthenic Syndrome: Frequency and Relation With Survival
Published in Journal of clinical oncology (10-09-2009)“…SOX1 antibodies are common in small-cell lung carcinoma (SCLC) with and without paraneoplastic syndrome (PNS) and can serve as serological tumor marker…”
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TGF-β is a potent inducer of Nerve Growth Factor in articular cartilage via the ALK5-Smad2/3 pathway. Potential role in OA related pain?
Published in Osteoarthritis and cartilage (01-03-2015)“…Summary Objective Pain is the main problem for patients with osteoarthritis (OA). Pain is linked to inflammation, but in OA a subset of patients suffers from…”
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Electrophysiological Responses in the Human S3 Nerve During Sacral Neuromodulation for Fecal Incontinence
Published in Frontiers in neuroscience (11-10-2021)“…Intra-operative electrode placement for sacral neuromodulation (SNM) relies on visual observation of motor contractions alone, lacking complete information on…”
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Expression of TGFβ-family signalling components in ageing cartilage: Age-related loss of TGFβ and BMP receptors
Published in Osteoarthritis and cartilage (01-07-2016)“…Summary Objective Ageing is the main risk factor for osteoarthritis (OA).We investigated if expression of transforming growth factor β (TGFβ)-family…”
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Loss of ZBTB24 impairs nonhomologous end-joining and class-switch recombination in patients with ICF syndrome
Published in The Journal of experimental medicine (02-11-2020)“…The autosomal recessive immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome is a genetically heterogeneous disorder. Despite the…”
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Gene set analysis of GWAS data for human longevity highlights the relevance of the insulin/IGF-1 signaling and telomere maintenance pathways
Published in AGE (01-02-2013)“…In genome-wide association studies (GWAS) of complex traits, single SNP analysis is still the most applied approach. However, the identified SNPs have small…”
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Leukocyte telomere length associates with prospective mortality independent of immune-related parameters and known genetic markers
Published in International journal of epidemiology (01-06-2014)“…Human leukocyte telomere length (LTL) decreases with age and shorter LTL has previously been associated with increased prospective mortality. However, it is…”
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Circulating biomarkers associated with aortic diameter in male and female patients with thoracic aortic disease: a cross-sectional study
Published in Open heart (01-06-2023)“…As thoracic aortic disease (TAD) is generally asymptomatic, biomarkers are needed to provide insight into early progression. We aimed to examine the…”
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Correlation analysis of clinical parameters with epigenetic modifications in the DUX4 promoter in FSHD
Published in Epigenetics (01-06-2012)“…The aim of our study was to identify relationships between epigenetic parameters correlating with a relaxed chromatin state of the DUX4 promoter region and…”
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The de-ubiquitylating enzymes USP26 and USP37 regulate homologous recombination by counteracting RAP80
Published in Nucleic acids research (18-08-2015)Get full text
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Expanding the mutation spectrum in ICF syndrome: Evidence for a gender bias in ICF2
Published in Clinical genetics (01-10-2017)“…Background Immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome is a rare, genetically heterogeneous, autosomal recessive disorder…”
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Age-related loss of the transforming growth factor β receptor ALK5 precedes osteoarthritis development in cartilage
Published in Osteoarthritis and cartilage (01-04-2014)Get full text
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Biodesulphurized subbituminous coal by different fungi and bacteria studied by reductive pyrolysis. Part 1: Initial coal
Published in Fuel (Guildford) (01-09-2008)“…One of the perspective methods for clean solid fuels production is biodesulphurization. In order to increase the effect of this approach it is necessary to…”
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