A5065259473- Neurofibromatosis and Schwannoma Cases
- Genomic variations and chromosomal abnormalities
- Multiple Myeloma Research and Treatments
- Genetic Associations and Epidemiology
- Congenital heart defects research
- Sarcoma Diagnosis and Treatment
- Neuroblastoma Research and Treatments
- Epigenetics and DNA Methylation
- Genomics and Rare Diseases
- Chromosomal and Genetic Variations
- Remote-Sensing Image Classification
- Testicular diseases and treatments
- Gastrointestinal Tumor Research and Treatment
- Cancer Genomics and Diagnostics
- Autism Spectrum Disorder Research
- Genetics and Neurodevelopmental Disorders
- Chromatin Remodeling and Cancer
- Functional Brain Connectivity Studies
- Genetic factors in colorectal cancer
- Neural and Behavioral Psychology Studies
- Schizophrenia research and treatment
- MicroRNA in disease regulation
- Remote Sensing and Land Use
- Bone Tumor Diagnosis and Treatments
- Genomics and Chromatin Dynamics
Cardiff University
2008-2023
University Medical Center Hamburg-Eppendorf
2023
Universität Hamburg
2023
University of Ontario Institute of Technology
2023
First Technical University
2023
Uppsala University
2003-2007
Uppsala University Hospital
2004-2006
We investigated the involvement of rare (<1%) copy number variants (CNVs) in 471 cases schizophrenia and 2792 controls that had been genotyped using Affymetrix GeneChip® 500K Mapping Array. Large CNVs >1 Mb were 2.26 times more common (P = 0.00027), with effect coming mostly from deletions (odds ratio, OR 4.53, P 0.00013) although duplications also (OR 1.71, 0.04). Two large found two each, but no controls: a deletion at 22q11.2 known to be susceptibility factor for on 17p12, 14.0–15.4 Mb....
BackgroundParkinson's disease has been reported in a small number of patients with chromosome 22q11.2 deletion syndrome. In this study, we screened series large, independent Parkinson's case-control studies for deletions at 22q11.2.MethodsWe used data on spanning the locus from four (UK Wellcome Trust Case Control Consortium 2, Dutch Disease Genetics Consortium, US National Institute Aging, and International Genomics studies), which were original reports We did association analysis to...
Abstract Purpose: Neurofibromatosis type 1 (NF1) is an autosomal dominant condition that predisposes to benign and malignant tumors. The lifetime risk of a peripheral nerve sheath tumor (MPNST) in NF1 ∼10%. These tumors have poor survival rate their molecular basis remains unclear. We report the first comprehensive investigation DNA copy number across multitude genes using high-resolution array comparative genomic hybridization (CGH), with aim identify signatures delineate from Experimental...
About 10% of neurofibromatosis type 1 (NF1) patients develop malignant peripheral nerve sheath tumors (MPNSTs) and represent considerable patient morbidity mortality. Elucidation the genetic mechanisms by which inherited acquired NF1 disease gene variants lead to MPNST development is important. A study was undertaken identify constitutional somatic mutations in 34 MPNSTs from 27 patients. The germline identified 22 lymphocytes DNA these included seven novel a large 1.4-Mb deletion. mutation...
Meningiomas are the most common intracranial neoplasias, representing a clinically and histopathologically heterogeneous group of tumors. The neurofibromatosis type 2 (NF2) tumor suppressor is only gene known to be frequently involved in early development meningiomas. objective this study was identify genetic and/or epigenetic factors contributing these A large set sporadic meningiomas were analyzed for presence 22q macro-mutations using array-CGH order tumors carrying dosage aberrations not...
Epigenetic mechanisms are an important heritable and dynamic means of regulating various genomic functions, including gene expression, to orchestrate brain development, adult neurogenesis, synaptic plasticity. These processes when perturbed thought contribute schizophrenia pathophysiology. A core feature is cognitive dysfunction. For genetic disorders where impairment more severe such as intellectual disability, there a disproportionally high number genes involved in the epigenetic...
Abstract Variants at microRNA-137 (MIR137) , one of the most strongly associated schizophrenia risk loci identified to date, have been with poorer cognitive performance. As is known regulate expression ~1900 other genes, including several that are independently schizophrenia, we tested whether this gene set was also variation in Our analysis based on an empirically derived list genes whose altered by manipulation MIR137 expression. This cross-referenced genome-wide association data construct...
<b>Background:</b> Segmental duplications flanking the neurofibromatosis type 1 (<i>NF1</i>) gene locus on 17q11 mediate most deletions in NF1 patients. However, large size of and complexity architecture pose difficulties deletion analysis. We report construction application first <i>NF1</i> specific microarray, covering 2.24 Mb 17q11, using a non-redundant approach for array design. The average resolution analysis is ∼12 kb per measurement point with an increased 6.4 gene. <b>Methods:</b>...
Abstract Neurofibromatosis Type I (NF1) is an autosomal dominant disorder characterized by the development of both benign and malignant tumors. The lifetime risk for developing a peripheral nerve sheath tumor (MPNST) in NF1 patients ∼10% with poor survival rates. To date, molecular basis MPNST remains unclear. Here, we report first genome‐wide high‐resolution analysis DNA copy number alterations using 32K bacterial artificial chromosome microarray on series 24 MPNSTs three neurofibroma...
Schizophrenia is a debilitating psychiatric condition often associated with poor quality of life and decreased expectancy. Lack progress in improving treatment outcomes has been attributed to limited knowledge the underlying biology, although large-scale genomic studies have begun provide such insight. We report largest single cohort genome-wide association study schizophrenia (11,260 cases 24,542 controls) through meta-analysis existing data we identify 50 novel GWAS loci. Using gene-wide...
Abstract Introduction Genome‐wide association studies identify rs11136000 in the CLU gene, which codes for Apolipoprotein J/Clusterin, as a significant risk variant Alzheimer's disease (AD). However, mechanisms by this confers susceptibility remain relatively unknown. Methods Eighty‐five healthy Caucasian participants underwent functional magnetic resonance imaging during working memory (WM) task and were genotyped rs11136000/ APOE loci. Results Here we show that young individuals with (C)...
Deletions and duplications of genomic segments commonly cause developmental disorders. The resolution efficiency in diagnosing such gene-dosage alterations can be drastically increased using microarray-based comparative hybridization (array-CGH). However, array-CGH currently relies on spotting clones as targets, which confers severe limitations to the approach including analysis reliable assessment regions with high content redundant sequences. To improve methodology for analysis, we...
Abstract Background The longstanding association between the major histocompatibility complex (MHC) locus and schizophrenia (SZ) risk has recently been accounted for, partially, by structural variation at complement component 4 ( C4 ) gene. This generates varying levels of RNA expression, genetic information from MHC region can now be used to predict expression in brain. Increased predicted C4A is associated with SZ, reported influence synaptic pruning animal models. Methods Based on our...
Abstract A substantial proportion of schizophrenia liability can be explained by additive genetic factors. Risk profile scores (RPS) directly index risk using a summated total common variants weighted their effect. Previous studies suggest that RPS predict alterations to neural networks support working memory and verbal fluency. In this study, we apply fMRI data elucidate the effects polygenic on functional brain during probabilistic‐learning neuroimaging paradigm. The recruited paradigm...
Copy number variants (CNVs) have been linked to neurodevelopmental disorders such as intellectual disability (ID), autism, epilepsy and psychiatric disease. There are few studies of CNVs in patients with both ID epilepsy. We evaluated the range rare found 80 Welsh or developmental delay (DD), childhood-onset performed molecular cytogenetic testing by single nucleotide polymorphism array microarray-based comparative genome hybridisation. 8.8 % (7/80) had at least one that was considered be...
Abstract Maintenance of CpG island methylation in the genome is crucial for cellular homeostasis and this balance disrupted cancer. Our rationale was to compare islands tissues (tumor, healthy breast blood) from patients with We studied 72 genes 103 samples using microarray hybridization bisulfite sequencing. observed tumor specific hyper‐ or hypomethylation five genes; COL9A1 , MT1A, MT1J, HOXA5 FLJ45983. A general drop apparent tumors, when compared blood tissue. Furthermore, one displayed...
The variant at rs1006737 in the L-type voltage-gated calcium channel (alpha 1c subunit) CACNA1C gene is reliably associated with both bipolar disorder and schizophrenia. We investigated whether this risk affects reward responsiveness because processing one of central cognitive-motivational domains implicated disorders. In a sample 164 young, healthy individuals, we show dose-dependent response, where genotype was blunted responsiveness, whereas discriminability did not significantly differ...