Mette Nyegaard
A5048834813- Genetic Associations and Epidemiology
- Endometriosis Research and Treatment
- Epigenetics and DNA Methylation
- Genetics and Neurodevelopmental Disorders
- Cardiac electrophysiology and arrhythmias
- Cardiac Imaging and Diagnostics
- Reproductive System and Pregnancy
- Ion channel regulation and function
- Autism Spectrum Disorder Research
- Birth, Development, and Health
- Gene expression and cancer classification
- Multiple Myeloma Research and Treatments
- Uterine Myomas and Treatments
- Acute Myocardial Infarction Research
- T-cell and B-cell Immunology
- Pregnancy and preeclampsia studies
- Genetic Syndromes and Imprinting
- Lipoproteins and Cardiovascular Health
- Cardiovascular Function and Risk Factors
- Endometrial and Cervical Cancer Treatments
- Coronary Interventions and Diagnostics
- Reproductive Biology and Fertility
- Ovarian function and disorders
- Migraine and Headache Studies
- Genomics and Rare Diseases
Aalborg University
2010-2025
Statens Serum Institut
2024-2025
Aarhus University
2015-2024
University of Exeter
2024
University of Tartu
2024
Aalborg University Hospital
2009-2023
The University of Queensland
2018-2023
Queensland University of Technology
2023
Copenhagen University Hospital
2023
Hvidovre Hospital
2023
The identification of molecular differences in the endometrium women with endometriosis is an important step toward understanding pathogenesis this condition and developing novel strategies for treatment associated infertility pain. In study, we conducted global gene expression analysis from without moderate/severe stage compared signatures across various phases menstrual cycle. transcriptome revealed dysregulation proliferative-to-secretory transition endometriosis. Paralleled endometrial...
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a devastating inherited disorder characterized by episodic syncope and/or sudden cardiac arrest during exercise or acute emotion in individuals without structural abnormalities. Although rare, CPVT suspected to cause substantial part of deaths young individuals. Mutations RYR2, encoding the sarcoplasmic calcium channel, have been identified as causative approximately half all dominantly cases. Applying genome-wide linkage...
Detailed knowledge of how diversity in the sequence human genome affects phenotypic depends on a comprehensive and reliable characterization both sequences variation. Over past decade, insights into this relationship have been obtained from whole-exome sequencing or whole-genome large cohorts with rich data1,2. Here we describe analysis 150,119 individuals UK Biobank3. This constitutes set high-quality variants, including 585,040,410 single-nucleotide polymorphisms, representing 7.0% all...
The European Myeloma Network has organized two workshops on fluorescence in situ hybridization multiple myeloma. first aimed to identify specific indications and consensus technical approaches of current practice. A second workshop followed a quality control exercise which 21 laboratories analyzed diagnostic cases purified plasma cells for recurrent abnormalities. summary report was discussed at the EHA Scientific Working Group Meeting 2010. During exercise, there acceptable agreement more...
Abstract Innate immune activation by macrophages is an essential part of host defence against infection. Cytosolic recognition microbial DNA in leads to induction interferons and cytokines through cyclic GMP-AMP synthase (cGAS) stimulator interferon genes (STING). Other factors, including interferon-gamma inducible factor 16 (IFI16), have been proposed contribute DNA. However, their relation the cGAS-STING pathway not clear. Here, we show that IFI16 functions on two distinct levels....
The transcription factor Nrf2 is a critical regulator of inflammatory responses. If and how also affects cytosolic nucleic acid sensing currently unknown. Here we identify as an important negative STING suggest link between metabolic reprogramming antiviral DNA in human cells. Here, activation decreases expression responsiveness to agonists while increasing susceptibility infection with viruses. Mechanistically, regulates by decreasing mRNA stability. Repression occurs metabolically...
Massively parallel cDNA sequencing (RNA-seq) experiments are gradually superseding microarrays in quantitative gene expression profiling. However, many biologists uncertain about the choice of differentially expressed (DEG) analysis methods and validity cost-saving sample pooling strategies for their RNA-seq experiments. Hence, we performed experimental validation DEGs identified by Cuffdiff2, edgeR, DESeq2 Two-stage Poisson Model (TSPM) a experiment involving mice amygdalae micro-punches,...
During the invasive phase of implantation, trophoblasts and maternal decidual stromal cells secrete products that regulate trophoblast differentiation migration into endometrium. Paracrine interactions between extravillous decidua are important for successful embryonic including establishing placental vasculature, anchoring placenta to uterine wall, promoting immunoacceptance fetal allograph. To our knowledge, global crosstalk has not been elucidated date, present study used a functional...
Genetic and environmental components as well their interaction contribute to the risk of schizophrenia, making it highly relevant include factors in genetic studies schizophrenia. This study comprises genome-wide association (GWA) follow-up analyses all individuals born Denmark since 1981 diagnosed with schizophrenia controls from same birth cohort. Furthermore, we present first survey single nucleotide polymorphisms (SNPs) maternal cytomegalovirus (CMV) infection. The GWA analysis included...
Circulating PCSK9 destines low-density lipoprotein receptor for degradation in lysosomes, resulting increased LDL cholesterol. Accordingly, it is an attractive drug target hypercholesterolemia, and results from clinical trials are promising. While the physiological role of cholesterol metabolism well described, its complex mechanism action remains poorly understood, although known to depend on intracellular trafficking. We here identify sortilin, encoded by hypercholesterolemia-risk gene...
<h3>Background:</h3> Toll-like receptors (TLRs) are structurally and functionally related play important roles in the innate adaptive immune system. By genome scanning, evidence of linkage between chromosome Xp22 asthma atopic disorders has previously been obtained. harbours <i>TLR7</i> <i>TLR8</i> genes. <h3>Methods:</h3> The involvement aetiology was investigated by a family based association analysis two independently ascertained samples comprising 540 424 individuals from 135 100...
ObjectiveTo harmonize standard operating procedures (SOPs) and standardize the recording of associated data for collection, processing, storage human tissues relevant to endometriosis.DesignAn international collaboration involving 34 clinical/academic centers three industry collaborators from 16 countries on five continents.SettingIn 2013, two workshops were conducted followed by global consultation, bringing together 54 leaders in endometriosis research sample processing around...
Seckel syndrome is a recessively inherited dwarfism disorder characterized by microcephaly and unique head profile. Genetically, it constitutes heterogeneous condition, with several loci mapped (SCKL1-5) but only three disease genes identified: the ATR, CENPJ, CEP152 that control cellular responses to DNA damage. We previously locus chromosome 18p11.31-q11.2 (SCKL2). Here, we report two mutations in CtIP (RBBP8) gene within this result expression of C-terminally truncated forms CtIP. propose...
Purpose Current diagnostic tests for diffuse large B-cell lymphoma use the updated WHO criteria based on biologic, morphologic, and clinical heterogeneity. We propose a refined classification system subset-specific B-cell–associated gene signatures (BAGS) in normal hierarchy, hypothesizing that it can provide new biologic insight prognostic value. Patients Methods combined fluorescence-activated cell sorting, expression profiling, statistical modeling to generate BAGS naive, centrocyte,...