A Genetic Signature of Spina Bifida Risk from Pathway-Informed Comprehensive Gene-Variant Analysis
暂无分享,去创建一个
J. Witte | G. Shaw | L. Pennacchio | J. Rine | Dennis A Gilbert | Crystal Wright | T. Hoffmann | A. Lipzen | S. Carmichael | E. Lammer | K. Lazaruk | J. Hardin | Jason B. Stein | N. J. Marini | Anna Lipzen
[1] P. Stover,et al. Shmt1 and de novo thymidylate biosynthesis underlie folate-responsive neural tube defects in mice. , 2011, The American journal of clinical nutrition.
[2] John S. Witte,et al. Comprehensive Approach to Analyzing Rare Genetic Variants , 2010, PloS one.
[3] V. Salomaa,et al. Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia , 2010, Nature Genetics.
[4] M. E. Ross. Gene–environment interactions, folate metabolism and the embryonic nervous system , 2010, Wiley interdisciplinary reviews. Systems biology and medicine.
[5] D. Goldstein,et al. Uncovering the roles of rare variants in common disease through whole-genome sequencing , 2010, Nature Reviews Genetics.
[6] Ana María López,et al. FOXE1 association with both isolated cleft lip with or without cleft palate, and isolated cleft palate. , 2009, Human Molecular Genetics.
[7] J. Troendle,et al. A common variant in MTHFD1L is associated with neural tube defects and mRNA splicing efficiency , 2009, Human mutation.
[8] K. Artzt,et al. Mitochondrial C1-Tetrahydrofolate Synthase (MTHFD1L) Supports the Flow of Mitochondrial One-carbon Units into the Methyl Cycle in Embryos* , 2009, The Journal of Biological Chemistry.
[9] Andrew J. Copp,et al. Genetics of human neural tube defects , 2009, Human molecular genetics.
[10] K. Frazer,et al. Common vs. rare allele hypotheses for complex diseases. , 2009, Current opinion in genetics & development.
[11] M. J. Harris,et al. Insights into prevention of human neural tube defects by folic acid arising from consideration of mouse mutants. , 2009, Birth defects research. Part A, Clinical and molecular teratology.
[12] B. Franke,et al. An association study of 45 folate-related genes in spina bifida: Involvement of cubilin (CUBN) and tRNA aspartic acid methyltransferase 1 (TRDMT1). , 2009, Birth defects research. Part A, Clinical and molecular teratology.
[13] B. Browning,et al. A unified approach to genotype imputation and haplotype-phase inference for large data sets of trios and unrelated individuals. , 2009, American journal of human genetics.
[14] S. Browning,et al. A Groupwise Association Test for Rare Mutations Using a Weighted Sum Statistic , 2009, PLoS genetics.
[15] R. Rozen,et al. The MTHFD1 p.Arg653Gln variant alters enzyme function and increases risk for congenital heart defects , 2009, Human mutation.
[16] P. Stover,et al. Mthfd1 Is an Essential Gene in Mice and Alters Biomarkers of Impaired One-carbon Metabolism* , 2009, Journal of Biological Chemistry.
[17] J. Troendle,et al. Analysis of the MTHFD1 promoter and risk of neural tube defects , 2009, Human Genetics.
[18] P. Stover,et al. Cytoplasmic Serine Hydroxymethyltransferase Regulates the Metabolic Partitioning of Methylenetetrahydrofolate but Is Not Essential in Mice* , 2008, Journal of Biological Chemistry.
[19] H. Nijhout,et al. Mathematical Modeling of Folate Metabolism: Predicted Effects of Genetic Polymorphisms on Mechanisms and Biomarkers Relevant to Carcinogenesis , 2008, Cancer Epidemiology Biomarkers & Prevention.
[20] Jasper Rine,et al. The prevalence of folate-remedial MTHFR enzyme variants in humans , 2008, Proceedings of the National Academy of Sciences.
[21] Jinko Graham,et al. elrm: Software Implementing Exact-Like Inference for Logistic Regression Models , 2007 .
[22] P. Stover,et al. Folate-mediated one-carbon metabolism and neural tube defects: balancing genome synthesis and gene expression. , 2007, Birth defects research. Part C, Embryo today : reviews.
[23] E. Castilla,et al. Non‐Latin European descent could be a requirement for association of NTDs and MTHFR variant 677C > T: A meta‐analysis , 2007, American journal of medical genetics. Part A.
[24] P. Stover,et al. Evidence for Small Ubiquitin-like Modifier-dependent Nuclear Import of the Thymidylate Biosynthesis Pathway* , 2007, Journal of Biological Chemistry.
[25] M. J. Harris,et al. Mouse mutants with neural tube closure defects and their role in understanding human neural tube defects. , 2007, Birth defects research. Part A, Clinical and molecular teratology.
[26] W. Thilly,et al. A strategy to discover genes that carry multi-allelic or mono-allelic risk for common diseases: a cohort allelic sums test (CAST). , 2007, Mutation research.
[27] Roded Sharan,et al. Medical sequencing at the extremes of human body mass. , 2006, American journal of human genetics.
[28] Gary M. Shaw,et al. Neural tube defects and folate: case far from closed , 2006, Nature Reviews Neuroscience.
[29] J. Selhub,et al. Regulation of Folate-mediated One-carbon Metabolism by 10-Formyltetrahydrofolate Dehydrogenase* , 2006, Journal of Biological Chemistry.
[30] Katie A. Burren,et al. Integrity of the methylation cycle is essential for mammalian neural tube closure. , 2006, Birth defects research. Part A, Clinical and molecular teratology.
[31] A. Parle‐McDermott,et al. Confirmation of the R653Q polymorphism of the trifunctional C1-synthase enzyme as a maternal risk for neural tube defects in the Irish population , 2006, European Journal of Human Genetics.
[32] R. Mackenzie,et al. Mitochondrial one-carbon metabolism is adapted to the specific needs of yeast, plants and mammals. , 2006, BioEssays : news and reviews in molecular, cellular and developmental biology.
[33] E. Merello,et al. Evaluation of a methylenetetrahydrofolate-dehydrogenase 1958G>A polymorphism for neural tube defect risk , 2006, Journal of Human Genetics.
[34] J. Mulliken,et al. Variation in IRF6 contributes to nonsyndromic cleft lip and palate , 2005, American journal of medical genetics. Part A.
[35] R. Mackenzie,et al. Disruption of the Mthfd1 Gene Reveals a Monofunctional 10-Formyltetrahydrofolate Synthetase in Mammalian Mitochondria* , 2005, Journal of Biological Chemistry.
[36] Cornelia M Ulrich,et al. A Mathematical Model of the Folate Cycle , 2004, Journal of Biological Chemistry.
[37] G. Kauwell,et al. Methylenetetrahydrofolate reductase 677C-->T polymorphism affects DNA methylation in response to controlled folate intake in young women. , 2004, The Journal of nutritional biochemistry.
[38] K. Christensen,et al. Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palate. , 2004, The New England journal of medicine.
[39] Cornelia M Ulrich,et al. A mathematical model of the methionine cycle. , 2004, Journal of theoretical biology.
[40] Andrew J. Copp,et al. The genetic basis of mammalian neurulation , 2003, Nature Reviews Genetics.
[41] H. Blom,et al. Homocysteine interference in neurulation: a chick embryo model. , 2003, Birth defects research. Part A, Clinical and molecular teratology.
[42] G. Shaw,et al. Diet quality and risk of neural tube defects. , 2003, Medical hypotheses.
[43] S. Dudoit,et al. Multiple Hypothesis Testing in Microarray Experiments , 2003 .
[44] G. Shaw,et al. Prevalence of spina bifida and anencephaly during the transition to mandatory folic acid fortification in the United States , 2003 .
[45] Katherine L. Herbig,et al. Cytoplasmic Serine Hydroxymethyltransferase Mediates Competition between Folate-dependent Deoxyribonucleotide andS-Adenosylmethionine Biosyntheses* , 2002, The Journal of Biological Chemistry.
[46] G. Shaw,et al. Prevalence of spina bifida and anencephaly during the transition to mandatory folic acid fortification in the United States. , 2002, Teratology.
[47] D. Girelli,et al. A common mutation in the 5,10-methylenetetrahydrofolate reductase gene affects genomic DNA methylation through an interaction with folate status , 2002, Proceedings of the National Academy of Sciences of the United States of America.
[48] Zhoutao Chen,et al. Effects of common polymorphisms on the properties of recombinant human methylenetetrahydrofolate reductase , 2001, Proceedings of the National Academy of Sciences of the United States of America.
[49] S. Hernández-Díaz,et al. Neural tube defects in relation to use of folic acid antagonists during pregnancy. , 2001, American journal of epidemiology.
[50] R. Hardy,et al. Neural tube defects among Mexican Americans living on the US-Mexico border: effects of folic acid and dietary folate. , 2000, American journal of epidemiology.
[51] K. Hendricks,et al. Neural tube defects along the Texas-Mexico border, 1993-1995. , 1999, American journal of epidemiology.
[52] A. Copp,et al. Embryonic folate metabolism and mouse neural tube defects. , 1998, Science.
[53] G. Shaw,et al. Neural tube defects--why are rates high among populations of Mexican descent? , 1995, Environmental health perspectives.
[54] G. Shaw,et al. PERICONCEPTIONAL VITAMIN USE, DIETARY FOLATE, AND THE OCCURRENCE OF NEURAL TUBE DEFECTS , 1995, Epidemiology.
[55] J. Mills,et al. Homocysteine metabolism in pregnancies complicated by neural-tube defects , 1995, The Lancet.
[56] H. Blom,et al. Maternal hyperhomocysteinemia: a risk factor for neural-tube defects? , 1994, Metabolism: clinical and experimental.
[57] W. Frankel,et al. Multifactorial inheritance of neural tube defects: localization of the major gene and recognition of modifiers in ct mutant mice , 1994, Nature Genetics.
[58] G M Shaw,et al. Birth defects monitoring in California: a resource for epidemiological research. , 1991, Paediatric and perinatal epidemiology.
[59] F. Massey. The Kolmogorov-Smirnov Test for Goodness of Fit , 1951 .
[60] A. Ashley-Koch,et al. Epidemiologic and genetic aspects of spina bifida and other neural tube defects. , 2010, Developmental disabilities research reviews.
[61] H. Nijhout,et al. Mathematical models of folate-mediated one-carbon metabolism. , 2008, Vitamins and hormones.
[62] P. Stover,et al. Small ubiquitin-like modifier-1 (SUMO-1) modification of thymidylate synthase and dihydrofolate reductase , 2007, Clinical chemistry and laboratory medicine.
[63] A. Mcgill. Food Standards. , 1911, Canadian Medical Association journal.