A5069348053- Plant Disease Resistance and Genetics
- Metabolism and Genetic Disorders
- Plant Pathogens and Resistance
- Prenatal Screening and Diagnostics
- Neuroendocrine Tumor Research Advances
- Pancreatic function and diabetes
- Connective tissue disorders research
- RNA regulation and disease
- Metabolism, Diabetes, and Cancer
- Hedgehog Signaling Pathway Studies
- Clinical Nutrition and Gastroenterology
- Cutaneous Melanoma Detection and Management
- Testicular diseases and treatments
- Infectious Disease Case Reports and Treatments
- Chromatin Remodeling and Cancer
- Fetal and Pediatric Neurological Disorders
- Vitamin D Research Studies
- Genetic and rare skin diseases.
- Biochemical and Molecular Research
- Abdominal vascular conditions and treatments
- Gestational Trophoblastic Disease Studies
- Light effects on plants
- Birth, Development, and Health
- Cancer Mechanisms and Therapy
- Microscopic Colitis
Edinburgh Royal Infirmary
2008-2024
Royal Hospital for Children
2001-2013
Western Infirmary
1996-1997
University of Glasgow
1996
Western University
1992
University of Maryland, Baltimore
1987
Congenital melanocytic nevi (CMN) can be associated with neurological abnormalities and an increased risk of melanoma. Mutations in NRAS, BRAF, Tp53 have been described individual CMN samples; however, their role the pathogenesis multiple within same subject development features has not clear. We hypothesized that a single postzygotic mutation NRAS could responsible for individual, as well nonmelanocytic central nervous system (CNS) lesions. From 15 patients, 55 samples were sequenced after...
Heterozygous missense mutations in coatomer protein subunit α, COPA, cause a syndrome overlapping clinically with type I IFN-mediated disease due to gain-of-function STING, key adaptor of IFN signaling. Recently, increased levels IFN-stimulated genes (ISGs) were described COPA syndrome. However, the link between and signaling is unknown. We observed elevated ISGs IFN-α blood symptomatic patients. In vitro, both overexpression mutant silencing induced STING-dependent detected an interaction...
Testicular germ cell tumours (TGCT) are thought to originate from fetal cells that fail differentiate normally, but no animal model for these events has been described. We evaluated the marmoset (Callithrix jacchus) as a by comparing perinatal differentiation with in humans.Immunohistochemical profiling was used investigate (OCT4, NANOG, AP-2gamma, MAGE-A4, VASA, NANOS-1) and proliferation (Ki67) neonatal testes comparison human and, lesser extent, rat.In marmosets humans, of gonocytes into...
Biallelic mutations in the gene encoding DHOdehase [dihydroorotate dehydrogenase (DHODH)], an enzyme required for de novo pyrimidine biosynthesis, have been identified as cause of Miller (Genée-Weidemann or postaxial acrofacial dysostosis) syndrome (MIM 263750). We report compound heterozygous DHODH four additional families with typical syndrome. Complementation auxotrophic yeast demonstrated reduced synthesis and vitro enzymatic analysis confirmed activity 11 disease-associated missense...
Most patients with nephroblastoma have high levels of plasma renin and some are hypertensive. Blood pressure falls after removal the affected kidney, suggesting that is associated production either by tumour or kidney. In this study, direct evidence was sought gene expression in using situ hybridization. Digoxigenin-labelled riboprobes an immunoperoxidase technique were used to detect cells containing mRNA: showed 9 out 12 cases. There positive within metanephric blastema occasional...
Three infants with subphrenic abscess, pyonephrosis, and obstructive ureterocoele respectively had grossly increased concentrations of plasma ammonia. This was considered to be a result infections urea splitting organisms. All died in spite intensive care support, including specific measures reduce
Objective To explore the relative utility of genetic testing in contrast to placental pathology explaining causation death structurally normal stillborn population. Methods A retrospective review a infant cohort South East Scotland between 2011 and 2015, defined by at or after 24 weeks gestation. We reviewed reports collected demographic data on cases. This information was collated with test results (quantitative fluorescent polymerase chain reaction microarray analysis) create database for...
Twelve cases of insulinoma were studied to assess the amount hormone synthesis and storage by tumour see what effect a hormone-producing has on adjacent normal islets. This was investigated performing in situ hybridization, which detects messenger RNA, thus giving an indication degree tumour, immunocytochemistry, itself, stored cells. It found that most there less within cells than islet In minority cases, this decrease associated with reduced synthesis, but majority showed either equivalent...
Twelve cases of insulinoma were studied to assess the amount hormone synthesis and storage by tumour see what effect a hormone-producing has on adjacent normal islets. This was investigated performing in situ hybridization, which detects messenger RNA, thus giving an indication degree tumour, immunocytochemistry, itself, stored cells. It found that most there less within cells than islet In minority cases, this decrease associated with reduced synthesis, but majority showed either equivalent...
Schachter, C. L.; Sherebrin, M.; Canham, P. B.; Mottola, M. F.; McKenzie, K.; Mezzapelli, J. Author Information