A5039026781- Neurofibromatosis and Schwannoma Cases
- Chromatin Remodeling and Cancer
- Sarcoma Diagnosis and Treatment
- Genomics and Rare Diseases
- Neuroblastoma Research and Treatments
- Meningioma and schwannoma management
- Genomic variations and chromosomal abnormalities
- Nuclear Receptors and Signaling
- Genetic Associations and Epidemiology
- Trace Elements in Health
- Genetic factors in colorectal cancer
- Bone Tumor Diagnosis and Treatments
- Ion channel regulation and function
- Bioinformatics and Genomic Networks
- Congenital heart defects research
- Drug Transport and Resistance Mechanisms
- Peptidase Inhibition and Analysis
- Biomedical Text Mining and Ontologies
- Gene expression and cancer classification
- Genetics and Neurodevelopmental Disorders
Health Innovation Manchester
2024
St Mary's Hospital
2021-2024
Manchester Academic Health Science Centre
2021-2024
University of Manchester
2021-2024
St. Mary's Hospital
2021-2024
Genomics (United Kingdom)
2022-2024
Manchester University NHS Foundation Trust
2022-2024
Imperial College London
2013-2016
Detection of structural variants (SVs) is currently biased toward those that alter copy number. The relative contribution inversions genetic disease unclear. In this study, we analyzed genome sequencing data for 33,924 families with rare from the 100,000 Genomes Project. From a database hosting >500 million SVs, focused on 351 genes where haploinsufficiency confirmed mechanism and identified 47 ultra-rare rearrangements included an inversion (24 bp to 36.4 Mb, 20/47 de novo). Validation...
Previous microarray analysis of gene expression in frontal cortex showed differential genes associated with synaptic function schizophrenia compared to matched-controls two independent cohorts. One these validated both cohorts, SLC30A3, which encodes the Zinc Transporter 3 (ZNT3), is localised vesicles glutamate synapses and known be involved cognitive function. In view robust depletion SLC30A3 mRNA studies importance this function, we investigated whether single nucleotide polymorphism...
Purpose To determine the impact of additional genetic screening techniques on rate detection pathogenic variants leading to familial NF2 -related schwannomatosis. Methods We conducted a cohort 168 second-generation individuals meeting clinical criteria for In addition current techniques, targeted next-generation sequencing (NGS) and multiplex ligation-dependent probe amplification analysis, we applied including karyotype RNA analysis. For characterisation complex structural variant, also...
Schwannomatosis comprises a group of hereditary tumor predisposition syndromes characterized by, usually benign, multiple nerve sheath tumors, which frequently cause severe pain that does not typically respond to drug treatments. The most common schwannomatosis-associated gene is NF2, but SMARCB1 and LZTR1 are also associated. There still many cases in no pathogenic variants (PVs) have been identified, suggesting the existence as yet unidentified genetic risk factors. In this study, we...
Vestibular schwannomas are benign nerve sheath tumours that arise on the vestibulocochlear nerves. known to occur in context of tumour predisposition syndromes NF2-related and LZTR1-related schwannomatosis. However, majority vestibular present sporadically without identification germline pathogenic variants. To identify novel genetic associations with risk schwannoma development, we conducted a genome-wide association study cohort 911 sporadic cases collated from neurofibromatosis type 2...
PurposeThe LZTR1 gene has been associated with schwannomatosis tumor predisposition and is located in a region that deleted the great majority (89%) of patients 22q11.2 deletion syndrome (22q11.2DS). Since it known approximately 1 500 people general population will develop sporadic schwannoma there are no reports occurrence 22q11.2DS, we investigated whether whole-gene occurs assessed risk 22q11.2DS.MethodsWe genetic testing results for LZTR1-associated clinical phenotypes...
Most schwannomas are isolated tumours occurring in otherwise healthy people. However, bilateral vestibular (BVS) or multiple non-vestibular indicate an underlying genetic predisposition. This is most commonly
The 15th Biennial Winter Workshop in Psychoses, 15–18 November 2009, Barcelona, Spain: GENETICS AND TRANSLATIONAL PSYCHIATRY