Anne Parle-McDermott

Summary

Affiliation: Dublin City University
Country: Ireland

Publications

  1. ncbi request reprint Methods to study translated pseudogenes: in vitro translation, fusion with a tag/reporter gene, and complementation assay
    Anne Parle-McDermott
    Nutritional Genomics Group, School of Biotechnology, Dublin City University, Dublin 9, Ireland
    Methods Mol Biol 1167:243-52. 2014
  2. pmc DNA methylation: a timeline of methods and applications
    Alan Harrison
    Nutritional Genomics Group, School of Biotechnology, Dublin City University Dublin, Ireland
    Front Genet 2:74. 2011
  3. pmc Evaluation of common genetic variants in 82 candidate genes as risk factors for neural tube defects
    Faith Pangilinan
    Molecular Pathogenesis Section, Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
    BMC Med Genet 13:62. 2012
  4. pmc The impact of nutrition on differential methylated regions of the genome
    Anne Parle-McDermott
    School of Biotechnology, Dublin City University, Glasnevin, Dublin, Ireland
    Adv Nutr 2:463-71. 2011
  5. pmc A common variant in MTHFD1L is associated with neural tube defects and mRNA splicing efficiency
    Anne Parle-McDermott
    Nutritional Genomics Group, School of Biotechnology, Dublin City University, Dublin 9, Ireland
    Hum Mutat 30:1650-6. 2009
  6. ncbi request reprint The 19-bp deletion polymorphism in intron-1 of dihydrofolate reductase (DHFR) may decrease rather than increase risk for spina bifida in the Irish population
    Anne Parle-McDermott
    School of Biochemistry and Immunology, Trinity College Dublin, Dublin, Ireland
    Am J Med Genet A 143:1174-80. 2007
  7. ncbi request reprint Analysis of the MTHFR 1298A-->C and 677C-->T polymorphisms as risk factors for neural tube defects
    Anne Parle-McDermott
    Department of Biochemistry, Trinity College Dublin, Dublin, Ireland
    J Hum Genet 48:190-3. 2003
  8. ncbi request reprint Analysis of methionine synthase reductase polymorphisms for neural tube defects risk association
    Valerie B O'Leary
    Department of Biochemistry, Trinity College Dublin, Dublin, Ireland
    Mol Genet Metab 85:220-7. 2005
  9. ncbi request reprint Screening for new MTHFR polymorphisms and NTD risk
    Valerie B O'Leary
    Department of Biochemistry, Trinity College Dublin, Dublin, Ireland
    Am J Med Genet A 138:99-106. 2005
  10. pmc Analysis of the MTHFD1 promoter and risk of neural tube defects
    Nicola Carroll
    Dublin City University, Ireland
    Hum Genet 125:247-56. 2009

Collaborators

Detail Information

Publications22

  1. ncbi request reprint Methods to study translated pseudogenes: in vitro translation, fusion with a tag/reporter gene, and complementation assay
    Anne Parle-McDermott
    Nutritional Genomics Group, School of Biotechnology, Dublin City University, Dublin 9, Ireland
    Methods Mol Biol 1167:243-52. 2014
    ..This approach allows an assessment of whether a putative pseudogenic protein possesses enzymatic activity, to identify its subcellular localization and to test its capacity to complement the parental homologue. ..
  2. pmc DNA methylation: a timeline of methods and applications
    Alan Harrison
    Nutritional Genomics Group, School of Biotechnology, Dublin City University Dublin, Ireland
    Front Genet 2:74. 2011
    ..More recently, these three techniques have been applied to more technically advanced systems such as DNA microarrays and next-generation sequencing platforms, bringing us closer to unveiling a complete human epigenetic profile...
  3. pmc Evaluation of common genetic variants in 82 candidate genes as risk factors for neural tube defects
    Faith Pangilinan
    Molecular Pathogenesis Section, Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
    BMC Med Genet 13:62. 2012
    ..g., MTHFR rs1801133 (677 C > T) and MTHFD1 rs2236225 (R653Q)) have been found to increase NTD risk. We hypothesized that variants in additional folate/B12 pathway genes contribute to NTD risk...
  4. pmc The impact of nutrition on differential methylated regions of the genome
    Anne Parle-McDermott
    School of Biotechnology, Dublin City University, Glasnevin, Dublin, Ireland
    Adv Nutr 2:463-71. 2011
    ..Although a number of candidate regions/genes have been identified to date, we are just at the beginning in terms of cataloging so-called nutrient-sensitive methylation variable positions in humans...
  5. pmc A common variant in MTHFD1L is associated with neural tube defects and mRNA splicing efficiency
    Anne Parle-McDermott
    Nutritional Genomics Group, School of Biotechnology, Dublin City University, Dublin 9, Ireland
    Hum Mutat 30:1650-6. 2009
    ..We demonstrate that two of the three alleles of rs3832406 are functionally different and influence the splicing efficiency of the alternate MTHFD1L mRNA transcripts...
  6. ncbi request reprint The 19-bp deletion polymorphism in intron-1 of dihydrofolate reductase (DHFR) may decrease rather than increase risk for spina bifida in the Irish population
    Anne Parle-McDermott
    School of Biochemistry and Immunology, Trinity College Dublin, Dublin, Ireland
    Am J Med Genet A 143:1174-80. 2007
    ..5-fold) associated with the 19-bp intron deletion polymorphism, but this was not significant. In conclusion, the DHFR intron 19-bp deletion allele may be a protective NTD genetic factor by increasing DHFR mRNA levels in pregnant women...
  7. ncbi request reprint Analysis of the MTHFR 1298A-->C and 677C-->T polymorphisms as risk factors for neural tube defects
    Anne Parle-McDermott
    Department of Biochemistry, Trinity College Dublin, Dublin, Ireland
    J Hum Genet 48:190-3. 2003
    ..Our findings do not support a role for the 1298A-->C polymorphism in NTDs (OR 0.85 (95% CI 0.49-1.47), p= 0.55), nor do we observe a combined effect with the 677C-->T polymorphism...
  8. ncbi request reprint Analysis of methionine synthase reductase polymorphisms for neural tube defects risk association
    Valerie B O'Leary
    Department of Biochemistry, Trinity College Dublin, Dublin, Ireland
    Mol Genet Metab 85:220-7. 2005
    ..The frequencies of I22M and K350R differed significantly between the two groups (p = 0.0005 and p = 0.0001, respectively). Our findings do not support an important role for these MTRR variants in NTDs...
  9. ncbi request reprint Screening for new MTHFR polymorphisms and NTD risk
    Valerie B O'Leary
    Department of Biochemistry, Trinity College Dublin, Dublin, Ireland
    Am J Med Genet A 138:99-106. 2005
    ..This is the first NTD association study of both R594Q and the novel P39P. The association with NTD risk reported for these SNPs is driven by the linkage disequilibrium with the A222V (677C->T) NTD risk factor...
  10. pmc Analysis of the MTHFD1 promoter and risk of neural tube defects
    Nicola Carroll
    Dublin City University, Ireland
    Hum Genet 125:247-56. 2009
    ..R653Q (c.1958 G > A; dbSNP rs2236225) polymorphism. These results provide the first insight into how MTHFD1 is regulated and further emphasise its importance during embryonic development...
  11. ncbi request reprint MTHFD1 R653Q polymorphism is a maternal genetic risk factor for severe abruptio placentae
    Anne Parle-McDermott
    Department of Biochemistry, Trinity College Dublin, Dublin, Ireland
    Am J Med Genet A 132:365-8. 2005
    ..We conclude that women who are 'QQ' homozygote for the MTHFD1 1258G --> A (R653Q) polymorphism are almost three times more likely to develop severe abruptio placentae during their pregnancy than women who are 'RQ' or 'RR.'..
  12. ncbi request reprint Confirmation of the R653Q polymorphism of the trifunctional C1-synthase enzyme as a maternal risk for neural tube defects in the Irish population
    Anne Parle-McDermott
    School of Biochemistry and Immunology, Trinity College Dublin, Dublin, Ireland
    Eur J Hum Genet 14:768-72. 2006
    ..We have established that the MTHFD1 1958G>A polymorphism has a significant role in influencing a mother's risk of having an NTD-affected pregnancy in the Irish population...
  13. ncbi request reprint Reduced folate carrier polymorphisms and neural tube defect risk
    Valerie B O'Leary
    Department of Biochemistry, Trinity College Dublin, Ireland
    Mol Genet Metab 87:364-9. 2006
    ..The previously unstudied 61 bp tandem repeat, however, has a possible protective NTD effect in our Irish population. This requires confirmation in other studies...
  14. ncbi request reprint Polymorphisms within the vitamin B12 dependent methylmalonyl-coA mutase are not risk factors for neural tube defects
    Anne Parle-McDermott
    Department of Biochemistry, Trinity College Dublin, Dublin, Ireland
    Mol Genet Metab 80:463-8. 2003
    ..002; H532R, P</=0.001; V671I, P=0.006). In conclusion, common variants in the mutase gene do not appear to be risk factors for NTDs but their allele frequencies are significantly different between ethnic groups...
  15. pmc Genotyping of a tri-allelic polymorphism by a novel melting curve assay in MTHFD1L: an association study of nonsyndromic Cleft in Ireland
    Stefano Minguzzi
    Nutritional Genomics Group, School of Biotechnology, Dublin City University, Dublin, Ireland
    BMC Med Genet 13:29. 2012
    ..This required the development of a new melting curve assay to genotype the technically challenging MTHFD1L triallelic deletion/insertion polymorphism (rs3832406)...
  16. ncbi request reprint Analysis of the human folate receptor beta gene for an association with neural tube defects
    Valerie B O'Leary
    Department of Biochemistry, Trinity College Dublin, Dublin, Ireland
    Mol Genet Metab 79:129-33. 2003
    ..Highly significant allele frequency differences were observed between populations. In conclusion, SNP rs651646 within the FRbeta gene is polymorphic but is not associated with neural tube defects within the Irish population...
  17. ncbi request reprint A polymorphism in the MTHFD1 gene increases a mother's risk of having an unexplained second trimester pregnancy loss
    Anne Parle-McDermott
    Department of Biochemistry, Trinity College Dublin, Dublin, Ireland
    Mol Hum Reprod 11:477-80. 2005
    ..Neither showed evidence of significantly affecting the maternal risk of having a second trimester pregnancy loss. In conclusion, the MTHFD1 1958AA genotype may be an important maternal risk factor to consider during pregnancy...
  18. ncbi request reprint The MTHFR 1298CC and 677TT genotypes have opposite associations with red cell folate levels
    Anne Parle-McDermott
    School of Biochemistry and Immunology, Trinity College Dublin, Ireland
    Mol Genet Metab 88:290-4. 2006
    ..Thus, these two common polymorphisms change a metabolic phenotype in opposite directions suggesting that their cancer protective associations are by different mechanisms...
  19. ncbi request reprint MTRR and MTHFR polymorphism: link to Down syndrome?
    Valerie B O'Leary
    Department of Biochemistry, Trinity College, Dublin, Ireland
    Am J Med Genet 107:151-5. 2002
    ..Women who have both the MTRR and MTHFR variant genotypes are also at increased risk of producing offspring with Down syndrome...
  20. ncbi request reprint An NTD-associated polymorphism in the 3' UTR of MTHFD1L can affect disease risk by altering miRNA binding
    Stefano Minguzzi
    Nutritional Genomics Group, School of Biotechnology, Dublin City University, Dublin, Ireland
    Hum Mutat 35:96-104. 2014
    ..These results reveal that the association of SNP rs7646 and NTD risk involves differences in microRNA regulation and, highlights the importance of genotype-dependent differential microRNA regulation in relation to human disease risk. ..
  21. doi request reprint Investigation of the molecular response to folate metabolism inhibition
    Nicola Carroll
    Nutritional Genomics Group, School of Biotechnology, Dublin City University Dublin 9, Ireland
    J Nutr Biochem 23:1531-6. 2012
    ..This indicates that apart from their role in the immune response, it is likely that these gene products may also have a role to play in the cellular response to folate status...
  22. pmc The former annotated human pseudogene dihydrofolate reductase-like 1 (DHFRL1) is expressed and functional
    Gráinne McEntee
    School of Biotechnology, Dublin City University, Glasnevin, Dublin 9, Ireland
    Proc Natl Acad Sci U S A 108:15157-62. 2011
    ..The identification of DHFRL1 will have implications for previous research involving DHFR...