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Article
Open AccessCRISPR/Cas9-edited ROS1 + non-small cell lung cancer cell lines highlight differential drug sensitivity in 2D vs 3D cultures while reflecting established resistance profiles
The study of resistance-causing mutations in oncogene-driven tumors is fundamental to guide clinical decisions. Several point mutations affecting the ROS1 kinase domain have been identified in the clinical set...
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Article
Open AccessEpigenome-wide methylation analysis of colorectal carcinoma, adenoma and normal tissue reveals novel biomarkers addressing unmet clinical needs
Biomarker discovery in colorectal cancer has mostly focused on methylation patterns in normal and colorectal tumor tissue, but adenomas remain understudied. Therefore, we performed the first epigenome-wide stu...
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Article
Open AccessBlood transcriptomics to facilitate diagnosis and stratification in pediatric rheumatic diseases – a proof of concept study
Transcriptome profiling of blood cells is an efficient tool to study the gene expression signatures of rheumatic diseases. This study aims to improve the early diagnosis of pediatric rheumatic diseases by inve...
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A peculiar mitral valve mass
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Genetics of otosclerosis: finally catching up with other complex traits?
Otosclerosis is a relatively common cause of hearing impairment, characterized by abnormal bone remodeling of the middle and inner ear. In about 50–60% of the patients, the disease is present in a familial for...
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Article
A wide range of protective and predisposing variants in aggrecan influence the susceptibility for otosclerosis
In this study, we investigated the association of ACAN variants with otosclerosis, a frequent cause of hearing loss among young adults. We sequenced the coding, 5′-UTR and 3′-UTR regions of ACAN in 1497 unrelated...
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Mitral valve annuloplasty ring dehiscence
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Article
Open AccessEchinacea purpurea (L.) Moench treatment of monocytes promotes tonic interferon signaling, increased innate immunity gene expression and DNA repeat hypermethylated silencing of endogenous retroviral sequences
Herbal remedies of Echinacea purpurea tinctures are widely used today to reduce common cold respiratory tract infections.
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Disturbing effect of lockdown for COVID-19 on the incidence of infective endocarditis: a word of caution
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Article
Open AccessGenome-wide association meta-analysis identifies five novel loci for age-related hearing impairment
Previous research has shown that genes play a substantial role in determining a person’s susceptibility to age-related hearing impairment. The existing studies on this subject have different results, which may...
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Article
Clinical applications of (epi)genetics in gastroenteropancreatic neuroendocrine neoplasms: Moving towards liquid biopsies
High-throughput analysis, including next-generation sequencing and microarrays, have strongly improved our understanding of cancer biology. However, genomic data on rare cancer types, such as neuroendocrine ne...
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Article
Insufficient evidence for a role of SERPINF1 in otosclerosis
Otosclerosis is a common form of hearing loss (HL) due to abnormal remodeling of the otic capsule. The genetic causes of otosclerosis remain largely unidentified. Only mutations in a single gene, SERPINF1, were p...
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Article
Giant pseudoaneurysm of the left ventricle
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A systematic review of hearing and vestibular function in carriers of the Pro51Ser mutation in the COCH gene
The Pro51Ser (P51S) COCH mutation is characterized by a late-onset bilateral sensorineural hearing loss (SNHL) and progressive vestibular deterioration. The aim of this study was to carry out a systematic review ...
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Molecular analysis of an asbestos-exposed Belgian family with a high prevalence of mesothelioma
Familial clustering of malignant mesothelioma (MM) has been linked to the presence of germline mutations in BAP1. However, families with multiple MM patients, without segregating BAP1 mutation were described, sug...
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Open AccessLarge-scale analysis of DFNA5 methylation reveals its potential as biomarker for breast cancer
Breast cancer is the most frequent cancer among women worldwide. Biomarkers for early detection and prognosis of these patients are needed. We hypothesized that deafness, autosomal dominant 5 (DFNA5) may be a val...
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Article
Open AccessGLI2 promoter hypermethylation in saliva of children with a respiratory allergy
The prevalence of respiratory allergy in children is increasing. Epigenetic DNA methylation changes are plausible underlying molecular mechanisms.
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Article
Open AccesspyAmpli: an amplicon-based variant filter pipeline for targeted resequencing data
Haloplex targeted resequencing is a popular method to analyze both germline and somatic variants in gene panels. However, involved wet-lab procedures may introduce false positives that need to be considered in...
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Article
Open AccessInteraction between prenatal pesticide exposure and a common polymorphism in the PON1 gene on DNA methylation in genes associated with cardio-metabolic disease risk—an exploratory study
Prenatal environmental conditions may influence disease risk in later life. We previously found a gene-environment interaction between the paraoxonase 1 (PON1) Q192R genotype and prenatal pesticide exposure leadi...
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Article
Congenital hearing loss
Congenital hearing loss (hearing loss that is present at birth) is one of the most prevalent chronic conditions in children. In the majority of developed countries, neonatal hearing screening programmes enable...
