Research Topics
Genomes and GenesSpecies | Laura E MitchellSummaryAffiliation: Texas A and M Health Science Center Country: USA Publications
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Publications
Spina Bifida Research Resource: study design and participant characteristicsLaura E Mitchell
Institute of Biosciences and Technology, Texas A and M University System Health Science Center, Houston, Texas 77030, USA
Birth Defects Res A Clin Mol Teratol 82:684-91. 2008..Myelomeningocele is a common serious malformation. In the majority of affected individuals, it is believed to be nonsyndromic and determined by the effects of multiple genetic and nongenetic factors...
Epidemiology of neural tube defectsLaura E Mitchell
Center for Environmental and Genetic Medicine, Institute of Biosciences and Technology, Texas A and M University System Health Science Center, Houston, Texas 77030, USA
Am J Med Genet C Semin Med Genet 135:88-94. 2005..The challenge for the future is to design studies that address these complexities, and are adequately powered to detect the factors or combination of factors that influence the development of NTDs...- Spina bifidaLaura E Mitchell
Institute of BioScience and Technology, The Texas A and M University System Health Science Center, TX 77030 3303, USA
Lancet 364:1885-95. 2004..Medical management is a lifelong necessity for individuals with spina bifida, and should be provided by a multidisciplinary team... - Evaluation of offspring and maternal genetic effects on disease risk using a family-based approach: the "pent" designLaura E Mitchell
Center for Environmental and Genetic Medicine, Institute of Biosciences and Technology, Texas AandM University System Health Sciences Center, Houston, TX 77030, USA
Am J Epidemiol 162:676-85. 2005..In addition, the power of the pent-1 approach is comparable with that of the approach based on data using all four grandparents... 
Diabetes and obesity-related genes and the risk of neural tube defects in the national birth defects prevention studyPhilip J Lupo
Human Genetics Center, Division of Epidemiology, Human Genetics and Environmental Sciences, School of Public Health, University of Texas, Houston, TX, USA
Am J Epidemiol 176:1101-9. 2012..These findings indicate that maternal genetic variants associated with glucose homeostasis may modify the risk of having an NTD-affected pregnancy...- Polytomous logistic regression as a tool for exploring heterogeneity across birth defect subtypes: an example using anencephaly and spina bifidaPhilip J Lupo
Division of Epidemiology and Disease Control, University of Texas School of Public Health, Houston, Texas, USA
Birth Defects Res A Clin Mol Teratol 88:701-5. 2010..Although the validity of using composite phenotypes has been questioned, formal evaluations of the underlying assumption of effect homogeneity across component phenotypes have not been conducted... - Maternal and infant gene-folate interactions and the risk of neural tube defectsAnalee J Etheredge
Texas A and M System Health Science Center Institute of Biosciences and Technology, Houston, USA
Am J Med Genet A 158:2439-46. 2012.... - Working towards a risk prediction model for neural tube defectsA J Agopian
Human Genetics Center, Division of Epidemiology, Human Genetics and Environmental Sciences, University of Texas School of Public Health, Houston, Texas 77030, USA
Birth Defects Res A Clin Mol Teratol 94:141-6. 2012..Several risk factors have been consistently associated with neural tube defects (NTDs). However, the predictive ability of these risk factors in combination has not been evaluated... - Differences in folic acid use, prenatal care, smoking, and drinking in early pregnancy by occupationA J Agopian
Human Genetics Center, Division of Epidemiology, Human Genetics and Environmental Sciences, University of Texas School of Public Health, 1200 Herman Pressler Dr, Houston, TX 77030, USA
Prev Med 55:341-5. 2012..To describe differences in four high risk periconceptional behaviors (lack of folic acid supplementation, lack of early prenatal care, smoking, and drinking) by maternal occupation... - Maternal occupational exposure to polycyclic aromatic hydrocarbons and congenital heart defects among offspring in the national birth defects prevention studyPhilip J Lupo
Division of Epidemiology, Human Genetics and Environmental Sciences, University of Texas School of Public Health, Houston, TX 77030, USA
Birth Defects Res A Clin Mol Teratol 94:875-81. 2012..Therefore, we conducted a case-control study assessing the association between estimated maternal occupational exposure to PAHs and CHDs in offspring... - Predictors of trisomy 21 in the offspring of older and younger womenA J Agopian
Center for Human Genetics, Division of Epidemiology, Human Genetics and Environmental Sciences, University of Texas School of Public Health, Houston, Texas, USA
Birth Defects Res A Clin Mol Teratol 94:31-5. 2012..To identify factors associated with the risk of trisomy 21 in the offspring of younger and older women, we analyzed data for cases with trisomy 21 from the Texas Birth Defects Registry for 1999 to 2007... - Evaluation of heterogeneity in the association between congenital heart defects and variants of folate metabolism genes: conotruncal and left-sided cardiac defectsJin Long
Institute of Biosciences and Technology, Texas A and M University System Health Science Center, Houston, USA
Birth Defects Res A Clin Mol Teratol 91:879-84. 2011.... - NAT1, NOS3, and TYMS genotypes and the risk of conotruncal cardiac defectsPhilip J Lupo
Human Genetics Center, Division of Epidemiology, Human Genetics and Environmental Sciences, University of Texas School of Public Health, Houston, TX, USA
Birth Defects Res A Clin Mol Teratol 91:61-5. 2011..Although several folate-related genes have been studied as they relate to CHDs and CTRDs (e.g., MTHFR), others have not been adequately assessed... - Spina bifida subtypes and sub-phenotypes by maternal race/ethnicity in the National Birth Defects Prevention StudyA J Agopian
Division of Epidemiology, Human Genetics and Environmental Sciences, University of Texas School of Public Health, Houston, Texas Human Genetics Center, University of Texas School of Public Health, Houston, Texas
Am J Med Genet A 158:109-15. 2012..55, 95% confidence interval: 1.23-1.95]. These findings provide evidence that certain spina bifida subtypes and sub-phenotypes may be etiologically distinct. © 2011 Wiley Periodicals, Inc... - Maternal occupational exposure to polycyclic aromatic hydrocarbons: effects on gastroschisis among offspring in the National Birth Defects Prevention StudyPhilip J Lupo
Division of Epidemiology, Human Genetics and Environmental Sciences, University of Texas School of Public Health, Houston, Texas 77030, USA
Environ Health Perspect 120:910-5. 2012..There is evidence in animal models that maternal exposure to PAHs during pregnancy is associated with gastroschisis in offspring; however, to our knowledge, no human studies examining this association have been conducted... - Proportion of neural tube defects attributable to known risk factorsA J Agopian
Human Genetics Center, Division of Epidemiology, Human Genetics and Environmental Sciences, University of Texas School of Public Health, Houston, TX 77030, USA
Birth Defects Res A Clin Mol Teratol 97:42-6. 2013..Recognized risk factors for neural tube defects (NTDs) poorly predict population-level NTD risk. However, the proportion of NTDs that can be attributed to these risk factors is uncertain... - Planar cell polarity pathway genes and risk for spina bifidaShu Wen
Baylor College of Medicine, Houston, Texas, USA
Am J Med Genet A 152:299-304. 2010..01. In conclusion, our results, though largely negative, suggest that the PRICKLE2 gene may potentially modify the risk of spina bifida and deserves further investigation... - Epidemiology of Ebstein anomaly: prevalence and patterns in Texas, 1999-2005Philip J Lupo
Human Genetics Center, Division of Epidemiology, Human Genetics and Environmental Sciences, The University of Texas School of Public Health, Houston, USA
Am J Med Genet A 155:1007-14. 2011..These findings help to define subgroups of women at increased risk of having offspring affected by Ebstein anomaly. Furthermore, our findings add to the limited body of literature on this rare but serious malformation... - Gene-gene interactions in the folate metabolic pathway and the risk of conotruncal heart defectsPhilip J Lupo
Human Genetics Center, Division of Epidemiology and Disease Control, The University of Texas School of Public Health, 1200 Herman Pressler Drive, Houston, TX 77030, USA
J Biomed Biotechnol 2010:630940. 2010..02). This association is consistent with the effects of this genotype combination on folate-homocysteine biochemistry but remains to be confirmed in independent study populations... - Variants of folate metabolism genes and risk of left-sided cardiac defectsLaura E Mitchell
Institute of Biosciences and Technology, Texas A and M University System Health Science Center, Houston, Texas, USA
Birth Defects Res A Clin Mol Teratol 88:48-53. 2010..Efforts to establish the relationships between these factors and CHD risk have, however, been hampered by a number of factors, including small study sample sizes and phenotypic heterogeneity... - Differences in exposure assignment between conception and delivery: the impact of maternal mobilityPhilip J Lupo
Division of Epidemiology and Disease Control, University of Texas School of Public Health, 1200 Herman Pressler Drive, Houston, TX 77030, USA
Paediatr Perinat Epidemiol 24:200-8. 2010.... - Epidemiology of nonsyndromic conotruncal heart defects in Texas, 1999-2004Jin Long
Institute of Biosciences and Technology, Texas A and M University System Health Science Center, Houston, TX 77382, USA
Birth Defects Res A Clin Mol Teratol 88:971-9. 2010..The aim of the present study was to identify and compare maternal and infant characteristics associated with three CTDs: truncus arteriosus (TA), dextro-transposition of the great arteries (d-TGA), and tetralogy of Fallot (TOF)... - MI-GWAS: a SAS platform for the analysis of inherited and maternal genetic effects in genome-wide association studies using log-linear modelsA J Agopian
Human Genetics Center, Division of Epidemiology, Human Genetics and Environmental Sciences, The University of Texas School of Public Health, Houston, 77030, USA
BMC Bioinformatics 12:117. 2011..However, available software packages for log-linear analyses are not well suited to the analysis of typical genome-wide association data (e.g. including missing data)... - Evaluation of two methods for assessing gene-environment interactions using data from the Danish case-control study of facial cleftsAnalee J Etheredge
Institute of Biosciences and Technology, Texas A and M University System Health Science Center, Houston, 77030, USA
Birth Defects Res A Clin Mol Teratol 73:541-6. 2005..CONCLUSIONS: The potential increase in power offered by the log-linear approach is offset by concerns regarding the validity of this approach when the independence assumption is violated... - Variants in genes that encode muscle contractile proteins influence risk for isolated clubfootKatelyn S Weymouth
University of Texas Medical School at Houston, Houston, Texas 77030, USA
Am J Med Genet A 155:2170-9. 2011..Collectively, our results suggest that variation in genes that encode contractile proteins of skeletal myofibers may play a role in the etiology of clubfoot... - Arsenate-induced maternal glucose intolerance and neural tube defects in a mouse modelDenise S Hill
Center for Environmental and Genetic Medicine, Institute of Biosciences and Technology, Texas A and M University System Health Science Center, Houston, 77030, USA
Toxicol Appl Pharmacol 239:29-36. 2009..Periconceptional hyperglycemia is a significant risk factor for neural tube defects (NTDs), the second most common structural birth defect. A suspected teratogen, arsenic (As) induces NTDs in laboratory animals... - Folate and homocysteine phenotypes: Comparative findings using research and clinical laboratory dataLaura E Mitchell
Institute of Biosciences and Technology, Texas A and M University System Health Science Center, Houston, USA
Clin Biochem 42:1275-81. 2009..This study was designed to evaluate a method based on stable isotope dilution liquid chromatography-multiple reaction monitoring/mass spectrometry (LC-MRM/MS)... - Retinoic acid receptor alpha gene variants, multivitamin use, and liver intake as risk factors for oral clefts: a population-based case-control study in Denmark, 1991-1994Laura E Mitchell
Department of Biomedical Sciences, Baylor College of Dentistry, The Texas A and M University System Health Science Center, Houston, TX, USA
Am J Epidemiol 158:69-76. 2003.... - The human T locus and spina bifida riskLiselotte E Jensen
Department of Pharmacology and Center for Pharmacogenetics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA
Hum Genet 115:475-82. 2004..The TIVS7 polymorphism or a variant that is in linkage disequilibrium with the TIVS7 polymorphism may, therefore, play a role in T gene expression and influence the risk of spina bifida... - The 5,10-methylenetetrahydrofolate reductase C677T polymorphism interacts with smoking to increase homocysteineKaren S Brown
Department of Pharmacology and Center for Pharmacogenetics, University of Pennsylvania School of Medicine, 153 Johnson Pavilion, 3620 Hamilton Walk, Philadelphia, PA 19104 6084, USA
Atherosclerosis 174:315-22. 2004..We propose that hyperhomocysteinemia in MTHFR 677TT homozygote smokers is the consequence of mild intracellular folate deficiency caused by a smoking-related reduction of NOS3 activity that is exacerbated when serum folate is low... - The thymidylate synthase tandem repeat polymorphism is not associated with homocysteine concentrations in healthy young subjectsKaren S Brown
Department of Pharmacology and Center for Pharmacogenetics, University of Pennsylvania School of Medicine, 153 Johnson Pavilion, 3620 Hamilton Walk, Philadelphia, PA 19104 6084, USA
Hum Genet 114:182-5. 2004..Our findings indicate that the TYMS 3R3R genotype is not a determinant of homocysteine in this sample of healthy young Caucasian adults from Northern Ireland... - Evidence that the risk of spina bifida is influenced by genetic variation at the NOS3 locusKaren S Brown
Department of Pharmacology and Center for Pharmacogenetics, University of Pennsylvania School of Medicine, Philadelphia, PA, USA
Birth Defects Res A Clin Mol Teratol 70:101-6. 2004..Had these analyses been restricted to the methodologically simpler TDT, the association between the NOS3 G894T genotype and risk of spina bifida may well have been overlooked... - A common ABCC2 promoter polymorphism is not a determinant of the risk of spina bifidaLiselotte E Jensen
Department of Pharmacology and Center for Pharmacogenetics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA
Birth Defects Res A Clin Mol Teratol 70:396-9. 2004..k.a. canalicular multispecific organic anion transporter [cMOAT], multidrug resistance related protein 2 [MRP2]), a member of the ABC transporter family that effluxes natural folates and anti-folate drugs such as methotrexate... - Genetic evidence that nitric oxide modulates homocysteine: the NOS3 894TT genotype is a risk factor for hyperhomocystenemiaKaren S Brown
Department of Pharmacology and Center for Pharmacogenetics, University of Pennsylvania School of Medicine, 153 Johnson Pavilion, 3620 Hamilton Walk, Philadelphia, PA 19104 6084, USA
Arterioscler Thromb Vasc Biol 23:1014-20. 2003..Nitric oxide may also modulate plasma homocysteine (tHcy) concentrations, either by direct inhibition of methionine synthase or via an indirect effect on folate catabolism... - Guidelines for the design and analysis of studies on nonsyndromic cleft lip and cleft palate in humans: summary report from a Workshop of the International Consortium for Oral Clefts GeneticsLaura E Mitchell
Center for Clinical Epidemiology and Biostatistics, The University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104 6021, USA
Cleft Palate Craniofac J 39:93-100. 2002..This report presents summary statements of the four subcommittees... - Discordant MZ twins with cleft lip and palate: a model for identifying genes in complex traitsMaria Adela Mansilla
Department of Pediatrics, University of Iowa, Iowa City, Iowa 52242, USA
Twin Res Hum Genet 8:39-46. 2005..While no etiologic variants were identified in this study, sequence comparisons of discordant MZ twins can serve as a tool for identifying etiologic mutations in clefting and other complex traits... - The NAT1 C1095A polymorphism, maternal multivitamin use and smoking, and the risk of spina bifidaLiselotte E Jensen
Department of Pharmacology and Center for Pharmacogenetics, University of Pennsylvania School of Medicine, Philadelphia, PA, USA
Birth Defects Res A Clin Mol Teratol 73:512-6. 2005..Such variants could exert an influence on the risk of NTDs via their role in acetylation or folate catabolism and could act through the maternal or the embryonic genotype... - Maternal genotype for the monocyte chemoattractant protein 1 A(-2518)G promoter polymorphism is associated with the risk of spina bifida in offspringLiselotte E Jensen
Am J Med Genet A 140:1114-8. 2006 - Loss of function polymorphisms in NAT1 protect against spina bifidaLiselotte E Jensen
Department of Pharmacology and Center for Pharmacogenetics, University of Pennsylvania School of Medicine, 153 Johnson Pavilion, 3620 Hamilton Walk, Philadelphia, PA 19104, USA
Hum Genet 120:52-7. 2006.... - An insertion/deletion polymorphism of the dihydrofolate reductase (DHFR) gene is associated with serum and red blood cell folate concentrations in womenAnna Stanisławska-Sachadyn
Department of Pharmacology and Center for Pharmacogenetics, University of Pennsylvania School of Medicine, 153 Johnson Pavilion, 3620 Hamilton Walk, Philadelphia, PA, 19104 6084, USA
Hum Genet 123:289-95. 2008.... - Influence of the cystathionine beta-synthase 844ins68 and methylenetetrahydrofolate reductase 677C>T polymorphisms on folate and homocysteine concentrationsCarolyn M Summers
Department of Pharmacology, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA
Eur J Hum Genet 16:1010-3. 2008..66 vs 8.77 micromol/l, P=0.045), and serum folate levels were 27.7% higher (11.16 vs 8.74 nmol/l, P=0.034). These findings suggest that the CBS 844ins68 allele 'normalizes' homocysteine and folate levels in MTHFR 677TT individuals... - Genetic and biochemical determinants of serum concentrations of monocyte chemoattractant protein-1, a potential neural tube defect risk factorZhi Yong Lu
Centers for Cancer Pharmacology, Pharmacogenetics, and Excellence in Environmental Toxicology, Department of Pharmacology, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104 6084, USA
Birth Defects Res A Clin Mol Teratol 82:736-41. 2008..The present study was undertaken to identify potential determinants of MCP-1 levels in women of reproductive age... - Evidence for sex differences in the determinants of homocysteine concentrationsAnna Stanisławska-Sachadyn
Department of Pharmacology and Center for Pharmacogenetics, University of Pennsylvania School of Medicine, 153 Johnson Pavilion, 3620 Hamilton Walk, Philadelphia, PA 19104 6084, USA
Mol Genet Metab 93:355-62. 2008..Among females, smokers (regardless of MTHFR genotype) appear to be at the highest risk, and to be the most vulnerable to a single factor (i.e. RBC folate) that is associated with homocysteine raising effects... - Maternal genetic effects, exerted by genes involved in homocysteine remethylation, influence the risk of spina bifidaMarie Therese Doolin
Department of Pharmacology and Center for Pharmacogenetics, University of Pennsylvania School of Medicine, Philadelphia, PA, USA
Am J Hum Genet 71:1222-6. 2002..87-49.67) and MTRR (R1=2.05, 95% CI 1.05-3.99; R2=3.15, 95% CI 0.92-10.85). These findings highlight the importance of considering both the maternal and embryonic genotype when evaluating putative spina bifida susceptibility loci...