A5041601792- Folate and B Vitamins Research
- Esophageal and GI Pathology
- RNA modifications and cancer
- Fungal and yeast genetics research
- Metabolism and Genetic Disorders
- Identification and Quantification in Food
- Environmental DNA in Biodiversity Studies
- Epigenetics and DNA Methylation
- CRISPR and Genetic Engineering
- Molecular Biology Techniques and Applications
- Prenatal Screening and Diagnostics
- Mitochondrial Function and Pathology
- Iron Metabolism and Disorders
- Pregnancy and preeclampsia studies
- Genetic factors in colorectal cancer
- RNA and protein synthesis mechanisms
- Gestational Diabetes Research and Management
- Bacterial Genetics and Biotechnology
- RNA regulation and disease
- Prenatal Substance Exposure Effects
- Genomics and Chromatin Dynamics
- Yeasts and Rust Fungi Studies
- Cancer Genomics and Diagnostics
- Trace Elements in Health
- MicroRNA in disease regulation
Dublin City University
2015-2025
22q11 Ireland
2021
Trinity College Dublin
1996-2007
Royal College of Surgeons in Ireland
1997-2002
National Research Council Canada
1997
Vienna Biocenter
1996-1997
Abstract Polymorphisms in genes encoding the folate metabolizing enzymes methylenetetrahydrofolate reductase ( MTHFR C677T) and methionine synthase MTRR A66G) have been linked to etiology of Down syndrome. We examined prevalence these variant genotypes mothers who had given birth a child with syndrome (n = 48) control 192), investigated biochemical factors influenced by presence A66G C677T. The frequency (AG, GG) was significantly higher children compared controls P 0.0028). C677T genotype...
We report the first application of CRISPR-Cas technology to single species detection from environmental DNA (eDNA). Organisms shed and excrete into their environment such as in skin cells faeces, referred Utilising eDNA allows noninvasive monitoring with increased specificity sensitivity. Current methods primarily employ PCR-based techniques detect a given samples, posing logistical challenge for on-site potential adaptation biosensor devices. have developed an alternative method; coupling...
DNA methylation is a biochemical process where base, usually cytosine, enzymatically methylated at the 5-carbon position. An epigenetic modification associated with gene regulation, of paramount importance to biological health and disease. Recently, quest unravel Human Epigenome commenced, calling for modernization previous profiling techniques. Here, we describe major developments in methodologies used over past three decades examine elusive epigenome (or methylome). The earliest techniques...
Abstract Background Neural tube defects (NTDs) are common birth (~1 in 1000 pregnancies the US and Europe) that have complex origins, including environmental genetic factors. A low level of maternal folate is one well-established risk factor, with periconceptional folic acid supplementation reducing occurrence NTD by 50-70%. Gene variants metabolic pathway (e.g., MTHFR rs1801133 (677 C > T) MTHFD1 rs2236225 (R653Q)) been found to increase risk. We hypothesized additional folate/B12 genes...
Summary Pleiotropic drug resistance (PDR) in the yeast Saccharomyces cerevisiae can arise from overexpression of ATP‐binding cassette (ABC) efflux pumps such as Pdr5 and Snq2. Mutations transcription factor genes PDR1 PDR3 are also associated with PDR. We show here that a pdr1–3 mutant exhibits PDR phenotype, including elevated to mutagen 4‐nitroquinoline‐ N ‐oxide, known substrate for Snq2 but not Pdr5. Northern analysis immunoblotting demonstrated SNQ2 gene is 10‐fold overexpressed...
Abstract BACKGROUND: Cleft lip with or without cleft palate (CLP) and only (CPO) have an inherited component and, many studies suggest, a relationship folate. Attempts to find folate‐related genes associated clefts have, however, often been inconclusive. This study examined four SNPs related folate metabolism ( MTHFR 677 C→T, 1298 A→C, MTHFD1 1958 G→A, TC II 776 C→G) in large Irish population clarify their clefts. METHODS: Cases parents were recruited from major surgical centers performing...
Abstract Dihydrofolate reductase activity is required in One Carbon Metabolism to ensure that the biologically active form of folate, tetrahydrofolate, replenished and available as an enzyme cofactor for numerous cellular reactions, including purine pyrimidine synthesis. Most was thought arise from product DHFR gene on chromosome 5, with its paralogue DHFR2 (formerly known DHFRL1; [chromosome 3]), believed be responsible mitochondrial dihydrofolate based recombinant versions enzyme. In this...
The yeast transcription factors Pdr1 and Pdr3 control pleiotropic drug resistance (PDR) development, since they regulate expression of ATP‐binding cassette (ABC) efflux pumps through binding to cis ‐acting sites known as PDREs ( R esponsive lements). In this report, we show by Northern blotting, gel shift mobility assays DNase I footprinting that the ABC genes PDR10 PDR15 is also controlled Pdr3. addition, in vitro band demonstrate a GST‐Pdr1 fusion protein can bind . allowed identification...
Abstract Periconceptional maternal folic acid supplementation can prevent up to 70% of pregnancies affected with neural tube defects (NTDs), including spina bifida. This has focused attention on folate‐related genes such as dihydrofolate reductase ( DHFR ) in a bid identify the genetic factors that influence NTD risk through either fetal or genotype. We considered novel intronic 19‐bp deletion polymorphism and two polymorphisms within 3′ untranslated region (721A > T 829C T) gene...
Polymorphisms in folate-related genes have emerged as important risk factors a range of diseases including neural tube defects (NTDs), cancer, and coronary artery disease (CAD). Having previously identified polymorphism within the cytoplasmic folate enzyme, MTHFD1, maternal factor for NTDs, we considered more recently mitochondrial paralogue, MTHFD1L, candidate gene NTD association. We common deletion/insertion polymorphism, rs3832406, c.781-6823ATT(7-9), which influences splicing efficiency...
Abstract Molecular techniques offer sensitive, specific, noninvasive monitoring of target species from a variety environmental samples. We recently developed CRISPR‐Cas‐based eDNA assay for rapid single‐species detection as route to simple, cost‐effective biosensor device. diagnostic assays use isothermal conditions in combination with highly specific sequence recognition system. This CRISPR‐Cas was designed Salmo salar , and we previously demonstrated its utility samples sites Ireland. The...
Low maternal folate or vitamin B12 status has been implicated in numerous pregnancy complications including spontaneous abortion. The primary aim of this study was to test a polymorphism within the trifunctional enzyme MTHFD1 (5,10-methylenetetrahydrofolate dehydrogenase, 5,10-methenyltetrahydrofolate cyclohydrolase, 10-formyltetrahydrofolate synthetase) for an association with mother's risk having unexplained second trimester loss. We genotyped 125 women who had at least one abortion...
This study examined the relationship between folate/homocysteine-related genetic polymorphisms: MTHFD1 1958G → A (R653Q), MTHFR 677C T (A222V), 1298A C (E429A), and risk of severe abruptio placentae. We genotyped 62 women with a pregnancy history complicated by placentae 184 control pregnancies. Analysis (R653Q) polymorphism showed increased frequency 'QQ' homozygote genotype in pregnancies affected compared to (odds ratio 2.85 (1.47–5.53), P = 0.002). In contrast previous reports,...
We have used serial analysis of gene expression (SAGE) to identify differences between a primary colon tumour cell line (SW480) and an isogenic lymph-node metastasis (SW620). Differential was confirmed for the following genes: keratin K5, cystatin S, serum amyloid A, human homologue yeast ribosomal S28 p32 subunit pre-mRNA splicing factor SF2. Expression were also analysed in other metastatic lines. © 2000 Cancer Research Campaign