Peter J. Wilson
A5073877485- Metabolism and Genetic Disorders
- Cancer Genomics and Diagnostics
- Glaucoma and retinal disorders
- Amino Acid Enzymes and Metabolism
- Diet and metabolism studies
- Retinal Imaging and Analysis
- Peroxisome Proliferator-Activated Receptors
- Epigenetics and DNA Methylation
- Pancreatic and Hepatic Oncology Research
- Lysosomal Storage Disorders Research
- Retinal Diseases and Treatments
- Mitochondrial Function and Pathology
- Genomics and Phylogenetic Studies
- Corneal surgery and disorders
- Lung Cancer Diagnosis and Treatment
- RNA modifications and cancer
- Wnt/β-catenin signaling in development and cancer
- Radiomics and Machine Learning in Medical Imaging
- Cell Adhesion Molecules Research
- CRISPR and Genetic Engineering
- Biomedical Research and Pathophysiology
- Corneal Surgery and Treatments
- Porphyrin Metabolism and Disorders
- Connective tissue disorders research
- Bone health and treatments
University of Liverpool
2015-2025
NHS Fife
2025
Queen Margaret Hospital
2025
Cancer Research UK Scotland Institute
2020
Heidelberg University
2020
University of Glasgow
2020
Switch
2020
Cancer Research UK
2020
The University of Queensland
2007-2017
Ninewells Hospital
2008-2016
Leptospira biflexa is a free-living saprophytic spirochete present in aquatic environments. We determined the genome sequence of L. biflexa, making it first to be sequenced. The has 3,590 protein-coding genes distributed across three circular replicons: major 3,604 chromosome, smaller 278-kb replicon that also carries essential genes, and third 74-kb replicon. Comparative analysis provides evidence an excellent model for study evolution; we conclude 2052 (61%) represent progenitor existed...
Oesophageal adenocarcinoma (EAC) incidence is rapidly increasing in Western countries. A better understanding of EAC underpins efforts to improve early detection and treatment outcomes. While large exome sequencing date have found recurrent loss-of-function mutations, oncogenic driving events been underrepresented. Here we use a combination whole-genome (WGS) single-nucleotide polymorphism-array profiling show that genomic catastrophes are frequent EAC, with almost third (32%, n=40/123)...
Iduronate 2-sulfatase (IDS, EC 3.1.6.13) is required for the lysosomal degradation of heparan sulfate and dermatan sulfate. Mutations causing IDS deficiency in humans result storage these glycosaminoglycans Hunter syndrome, an X chromosome-linked disease. We have isolated sequenced a 2.3-kilobase cDNA clone coding entire sequence human IDS. Analysis deduced 550-amino acid precursor indicates that has 25-amino amino-terminal signal sequence, followed by 8 amino acids are removed from...
Abstract Background We present the genome sequence of tammar wallaby, Macropus eugenii , which is a member kangaroo family and first representative iconic hopping mammals that symbolize Australia to be sequenced. The has many unusual biological characteristics, including longest period embryonic diapause any mammal, extremely synchronized seasonal breeding prolonged sophisticated lactation within well-defined pouch. Like other marsupials, it gives birth highly altricial young, small number...
In recent years the interest on relationship of gut hormones to bone processes has increased and represents one most interesting aspects in skeletal research. The proportion mass soft tissue is a that seems be controlled by delicate subtle regulations imply "cross-talks" between nutrient intake tissues like fat. Thus, recognition mechanisms integrate gastrointestinal-fat-bone axis its application several human health vital for improving treatments related diseases. This work analysed effects...
We present VAMPIRE, a software application for efficient, semi-automatic quantification of retinal vessel properties with large collections fundus camera images. VAMPIRE is also an international collaborative project four image processing groups and five clinical centres. The system provides automatic detection landmarks (optic disc, vasculature), quantifies key parameters used frequently in investigative studies: width, branching coefficients, tortuosity. ultimate vision to make available...
Abstract Treatment options for patients with brain metastases ( BMs ) have limited efficacy and the mortality rate is virtually 100%. Targeted therapy critically under‐utilized, our understanding of mechanisms underpinning metastatic outgrowth in limited. To address these deficiencies, we investigated genomic transcriptomic landscapes 36 from breast, lung, melanoma oesophageal cancers, using DNA copy‐number analysis exome‐ RNA ‐sequencing. The key findings were as follows. (a) Identification...
We have studied the function and distribution of alpha 1 beta 1, 5 6 heterodimers on type-1 astrocytes with antibodies specific for integrin subunits (alpha 5, 6, 1). The heterodimer mediates adhesion to laminin collagen, fibronectin in an RGD-dependent manner. is found focal contacts long-term cultures well-spread colocalizing vinculin termini actin stress fibers. can occasionally be as small aggregates within but they do not accumulate there. Instead, integrins are punctate deposits called...
The molecular mechanisms involved in the generation of epithelial ovarian cancers are poorly understood, but evidence suggests that different histological subtypes may arise from independent tumorigenic events. β-Catenin is emerging as an important oncogene transformation a number cancers, and mutations have been reported small study endometrioid adenocarcinomas. Mutations NH2-regulatory domain β-catenin stabilise cytoplasmic levels this protein, which promotes up-regulation β-catenin–T-cell...
We have determined the mutation in a patient with acute intermittent porphyria. The mRNA coding for porphobilinogen deaminase was reverse transcribed then CONA enzymatically amplified vitro. Upon sequencing of polymerase chain reaction product abnormal size we found that this fragment lacked exon 12 gene. analysed genomic containing and heterozygous point G A at last position 12. propose base change is responsible an processing mutant allele such missing mature mRNA. resulting abberant...
Alkaptonuria is a genetic disorder of tyrosine metabolism, resulting in elevated circulating concentrations homogentisic acid. Homogentisic acid deposited as polymer, termed ochronotic pigment, collagenous tissues, especially cartilages weight-bearing joints, leading to severe osteoarthropathy. We undertook this study investigate the initiation and progression ochronosis from earliest detection pigment through complete joint failure.Nine samples with varying severities were obtained...
Tumour cellularity, the relative proportion of tumour and normal cells in a sample, affects sensitivity mutation detection, copy number analysis, cancer gene expression methylation profiling. cellularity is traditionally estimated by pathological review sectioned specimens; however this method both subjective prone to error due heterogeneity within lesions differences between sample viewed during tissue used for research purposes. In paper we describe statistical model estimate from SNP...
<h3>Background</h3> Alkaptonuria (AKU) is a rare metabolic disease caused by deficiency of homogentisate 1,2 dioxygenase, an enzyme involved in tyrosine catabolism, resulting increased circulating homogentisic acid (HGA). Over time HGA progressively deposited as polymer (termed ochronotic pigment) collagenous tissues, especially the cartilages weight bearing joints, leading to severe joint disease. <h3>Objectives</h3> To characterise blood biochemistry and arthropathy AKU mouse model...
Somatic mutation calling from next-generation sequencing data remains a challenge due to the difficulties of distinguishing true somatic events artifacts arising PCR, errors or mis-mapping. Tumor cellularity purity, sub-clonality and copy number changes also confound identification against background germline variants. We have developed heuristic strategy software (http://www.qcmg.org/bioinformatics/qsnp/) for in samples with low tumor content we show superior sensitivity precision our...
The postoperative course of 309 eyes subjected to trabeculectomy has been studied over a 7-year period. results have compiled with regard effectiveness maintain normal range intraocular pressure and without medication. figures assessed in toto for 3 groups glaucoma, namely, open angle, chronic angle-closure, acute angle-closure. Results support those other reports show that gives satisfactory control the years reasonably high proportion relatively few complications. There is also small group...