Genomes and Genes
Simon G Gregory
Affiliation: Duke University Medical Center
- Interactions between social/ behavioral factors and ADRB2 genotypes may be associated with health at advanced ages in ChinaYi Zeng
Center for the Study of Aging and Human Development, Geriatrics Division of School of Medicine, Duke University, Box 3003 Durham, NC 27710, USA
BMC Geriatr 13:91. 2013..This study intends to fill in this research gap...
- Identification of Chiari Type I Malformation subtypes using whole genome expression profiles and cranial base morphometricsChristina A Markunas
Duke Center for Human Genetics, Duke University Medical Center, Durham, NC, USA
BMC Med Genomics 7:39. 2014..The purpose of the present study was to gain a better understanding of what factors contribute to this heterogeneity by using an unsupervised statistical approach to define disease subtypes within a case-only pediatric population...
- Genetic and functional association of FAM5C with myocardial infarctionJessica J Connelly
Department of Medicine and Center for Human Genetics, Duke University Medical Center, Durham, NC, USA
BMC Med Genet 9:33. 2008..59, D1S1589/D1S518). The overlap of genetic screens in independent data sets provides evidence for the existence of a gene or genes for CAD in this region...
- SNPs in Multi-species Conserved Sequences (MCS) as useful markers in association studies: a practical approachJacob L McCauley
Center for Human Genetics Research and Department of Molecular Physiology and Biophysics, Vanderbilt University Medical Center, Nashville, TN, USA
BMC Genomics 8:266. 2007..We chose annotated SNPs in the region based on location within MCSs (termed MCS-SNPs). We then obtained genotypes for 478 MCS-SNPs in 989 individuals from MS families...
- Genomic and epigenetic evidence for oxytocin receptor deficiency in autismSimon G Gregory
Duke Center for Human Genetics, DUMC, Durham, NC, USA
BMC Med 7:62. 2009..Although numerous approaches have been used to identify genes implicated in the development of autism, less than 10% of autism cases have been attributed to single gene disorders...
- Genetic screen of African Americans with Fuchs endothelial corneal dystrophyMollie A Minear
Duke Molecular Physiology Institute, Duke University Medical Center, Durham, NC
Mol Vis 19:2508-16. 2013..Given the sparse literature on African Americans with FECD, we sought to characterize the genetic variation in three known FECD candidate genes in African American patients with FECD...
- Genetic evaluation and application of posterior cranial fossa traits as endophenotypes for Chiari type I malformationChristina A Markunas
Center for Human Genetics, Duke University Medical Center, Durham, NC, USA
Ann Hum Genet 78:1-12. 2014..07, p = 3 × 10(-3) ) and 22 (LOD = 3.45, p = 6 × 10(-5) ) containing several candidates warranting further investigation. This study underscores the genetic heterogeneity of CMI and the utility of PF traits in CMI genetic studies. ..
- Stratified whole genome linkage analysis of Chiari type I malformation implicates known Klippel-Feil syndrome genes as putative disease candidatesChristina A Markunas
Department of Medicine, Duke University Medical Center, Durham, North Carolina, USA
PLoS ONE 8:e61521. 2013....
- Aging-related atherosclerosis is exacerbated by arterial expression of tumor necrosis factor receptor-1: evidence from mouse models and human association studiesLisheng Zhang
Department of Medicine Cardiology, Duke University Medical Center, Durham, NC, USA
Hum Mol Genet 19:2754-66. 2010..We conclude that TNFR1 polymorphisms associate with aging-related CAD in humans, and TNFR1 contributes to aging-dependent atherosclerosis in mice...
- Joint eQTL assessment of whole blood and dura mater tissue from individuals with Chiari type I malformationEric F Lock
Department of Medicine, Duke University Medical Center, Durham, NC, USA
BMC Genomics 16:11. 2015..A genetic basis to CMI has been established; however, the specific genetic risk factors are not well characterized...
- Gene-smoking interactions in multiple Rho-GTPase pathway genes in an early-onset coronary artery disease cohortCavin Ward-Caviness
Center for Human Genetics, School of Medicine, Duke University Medical Center, Box 3382, Durham, NC, 27710, USA
Hum Genet 132:1371-82. 2013..026. Finally, a pathway-based analysis of the association results using WebGestalt revealed several enriched pathways including the regulation of the actin cytoskeleton pathway as defined by the Kyoto Encyclopedia of Genes and Genomes...
- Interleukin 7 receptor alpha chain (IL7R) shows allelic and functional association with multiple sclerosisSimon G Gregory
Center for Human Genetics, Department of Molecular Genetics and Microbiology, Duke University Medical Center, Durham, North Carolina 27710, USA
Nat Genet 39:1083-91. 2007..The SNP influences the amount of soluble and membrane-bound isoforms of the protein by putatively disrupting an exonic splicing silencer...
- Epigenetic profiling identifies novel genes for ascending aortic aneurysm formation with bicuspid aortic valvesAsad A Shah
Division of Cardiovascular and Thoracic Surgery, Duke University Medical Center, Durham, NC
Heart Surg Forum 18:E134-9. 2015..We sought to identify epigenetic pathways predisposing to aneurysm formation in bicuspid patients...
- Mitochondrial polymorphism A10398G and Haplogroup I are associated with Fuchs' endothelial corneal dystrophyYi Ju Li
Department of Biostatistics and Bioinformatics, Duke University Medical Center, Durham, North Carolina, United States Duke Molecular Physiology Institute, Duke University Medical Center, Durham, North Carolina, United States
Invest Ophthalmol Vis Sci 55:4577-84. 2014..We investigated whether mitochondrial DNA (mtDNA) variants affect the susceptibility of Fuchs endothelial corneal dystrophy (FECD)...
- Missing genetic risk in neural tube defects: can exome sequencing yield an insight?Deidre R Krupp
Duke Molecular Physiology Institute, DUMC, 300 North Duke Street, Durham, NC, 27701
Birth Defects Res A Clin Mol Teratol 100:642-6. 2014..Although the identification of causal DNA variants by sequencing candidate genes from functionally relevant pathways and model organisms has provided some success, alternative approaches are demanded...
- Integrated genomic analyses identify ERRFI1 and TACC3 as glioblastoma-targeted genesChristopher G Duncan
The Preston Robert Tisch Brain Tumor Center, The Pediatric Brain Tumor Foundation, The Department of Pathology, Duke University Medical Center, Durham, NC 27710, USA
Oncotarget 1:265-77. 2010..Our multifaceted genomic evaluation of glioblastoma establishes ERRFI1 as a potential candidate tumor suppressor gene and TACC3 as a potential oncogene, and provides insight on targets for oncogenic pathway-based therapy...
- Polymorphic variants in tenascin-C (TNC) are associated with atherosclerosis and coronary artery diseaseMollie A Minear
Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA
Hum Genet 129:641-54. 2011..This is the first report of genetic association between polymorphisms in TNC and atherosclerosis or CAD...
- SNPselector: a web tool for selecting SNPs for genetic association studiesHong Xu
The Duke Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA
Bioinformatics 21:4181-6. 2005..SNPselector outputs result in compressed Excel spreadsheet files for review by the user...
- Transcriptome profiling of genes involved in neural tube closure during human embryonic development using long serial analysis of gene expression (long-SAGE)Deidre R Krupp
Center for Human Genetics, Department of Medicine, Duke University Medical Center, Durham, North Carolina 27710, USA
Birth Defects Res A Clin Mol Teratol 94:683-92. 2012..To develop a comprehensive knowledge of the genes expressed during normal neurulation, we established transcriptomes from human neural tube fragments during and after neurulation using long Serial Analysis of Gene Expression (long-SAGE)...
- Genetic effects in the leukotriene biosynthesis pathway and association with atherosclerosisDavid R Crosslin
Center for Human Genetics, Duke University Medical Center, 595 LaSalle Street, Durham, NC 27710, USA
Hum Genet 125:217-29. 2009....
- Association of Roadway Proximity with Fasting Plasma Glucose and Metabolic Risk Factors for Cardiovascular Disease in a Cross-Sectional Study of Cardiac Catheterization PatientsCavin K Ward-Caviness
Duke Molecular Physiology Institute, Duke University Medical Center, Durham, North Carolina, USA
Environ Health Perspect 123:1007-14. 2015..The relationship between traffic-related air pollution (TRAP) and risk factors for cardiovascular disease needs to be better understood in order to address the adverse impact of air pollution on human health...
- Genetic variants associated with vein graft stenosis after coronary artery bypass graftingAsad A Shah
Division of Thoracic and Cardiovascular Surgery, Department of Surgery, Duke University Medical Center, Durham, NC
Heart Surg Forum 18:E1-5. 2015..Identifying genes associated with vein graft stenosis after CABG could reveal novel mechanisms of disease and discriminate patients at risk for graft failure. We hypothesized that genome-wide association would identify these genes...
- Genome-wide linkage analysis of quantitative biomarker traits of osteoarthritis in a large, multigenerational extended familyHsiang Cheng Chen
Duke University Medical Center, Durham, NC 27710, USA
Arthritis Rheum 62:781-90. 2010..The goal of the current study was to use OA-related biomarkers of severity and disease burden as quantitative traits to identify genetic susceptibility loci for OA...
- Fine mapping of a linkage peak with integration of lipid traits identifies novel coronary artery disease genes on chromosome 5Daniel K Nolan
Center for Human Genetics, Duke University, 905 S, LaSalle Street, Duke Univeristy Medical Center, Durham, NC 27710, USA
BMC Genet 13:12. 2012..e., a qualitative phenotype) using linkage and association in the presence of linkage (APL; GENECARD) and logistic regression (CATHGEN and aortas)...
- The S1103Y cardiac sodium channel variant is associated with implantable cardioverter-defibrillator events in blacks with heart failure and reduced ejection fractionAlbert Y Sun
Division of Cardiovascular Diseases, Department of Medicine, Duke University Medical Center, Durham, NC, USA
Circ Cardiovasc Genet 4:163-8. 2011..We hypothesized that the S1103Y cardiac sodium channel SCN5A variant influences the propensity for ventricular arrhythmias in black patients with heart failure and reduced ejection fraction...
- Clinical, radiological, and genetic similarities between patients with Chiari Type I and Type 0 malformationsChristina A Markunas
Center for Human Genetics, Duke University Medical Center, Durham, NC, USA
J Neurosurg Pediatr 9:372-8. 2012..The goal of this study was to identify families in whom CM-0 and CM-I co-occurred and to further assess the similarities between these disorders...
- Comprehensive genetic analysis of the platelet activating factor acetylhydrolase (PLA2G7) gene and cardiovascular disease in case-control and family datasetsBeth S Sutton
Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA
Hum Mol Genet 17:1318-28. 2008..Further functional studies involving a combination of risk alleles are warranted...
- Genetic association analyses of nitric oxide synthase genes and neural tube defects vary by phenotypeKaren L Soldano
Center for Human Genetics, Duke University Medical Center, Durham, North Carolina
Birth Defects Res B Dev Reprod Toxicol 98:365-73. 2013..0014). Our data extend the previous findings by implicating a role for all three NOS genes, independently and through interactions with MTHFR, in risk not only for spina bifida, but all NTD subtypes. ..
- Peakwide mapping on chromosome 3q13 identifies the kalirin gene as a novel candidate gene for coronary artery diseaseLiyong Wang
Center for Human Genetics, Department of Medicine, Duke Univeristy Medical Center, Durham, NC, USA
Am J Hum Genet 80:650-63. 2007..KALRN and two other associated genes identified in this study (CDGAP and MYLK) belong to the Rho GTPase-signaling pathway. Our data suggest the importance of the KALRN gene and the Rho GTPase-signaling pathway in the pathogenesis of CAD...
- Using circulating tumor cells to inform on prostate cancer biology and clinical utilityJing Li
a Duke Cancer Institute, Duke University Medical Center, Durham, NC, USA
Crit Rev Clin Lab Sci 52:191-210. 2015..Here, we review technologies used to detect and characterize CTCs, and the potential biological and clinical utility of CTC molecular profiling in men with metastatic prostate cancer. ..
- Replication of TCF4 through association and linkage studies in late-onset Fuchs endothelial corneal dystrophyYi Ju Li
Department of Biostatistics and Bioinformatics, Duke University Medical Center, Durham, North Carolina, United States of America
PLoS ONE 6:e18044. 2011..5 Mb proximal to rs613872. In summary, our study presents evidence to support the role of the intronic TCF4 single nucleotide polymorphism rs613872 in late-onset FECD through both association and linkage studies...
- Neuropeptide Y gene polymorphisms confer risk of early-onset atherosclerosisSvati H Shah
Department of Medicine, Duke University Medical Center, Durham, North Carolina, United States of America
PLoS Genet 5:e1000318. 2009..We conclude that NPY contributes to atherosclerosis pathogenesis...
- Association of autism with induced or augmented childbirth in North Carolina Birth Record (1990-1998) and Education Research (1997-2007) databasesSimon G Gregory
Center for Human Genetics, Department of Medicine, Duke University Medical Center, Durham, North Carolina2Duke Institute of Molecular Physiology, Duke University Medical Center, Durham, North Carolina
JAMA Pediatr 167:959-66. 2013..One in 88 children in the United States is diagnosed as having autism spectrum disorder. Significant interest centers on understanding the environmental factors that may contribute to autism risk...
- HDMX regulates p53 activity and confers chemoresistance to 3-bis(2-chloroethyl)-1-nitrosoureaGenglin Jin
Department of Pathology, Pediatric Brain Tumor Foundation Institute and Preston Robert Tisch Brain Tumor Center at Duke, Duke University Medical Center, Durham, North Carolina 27710, USA
Neuro Oncol 12:956-66. 2010..In summary, HDMX exhibits bona fide oncogenic properties and offers a promising molecular target for GBM therapeutic intervention...
- Cleavage and polyadenylation specificity factor 1 (CPSF1) regulates alternative splicing of interleukin 7 receptor (IL7R) exon 6Irina Evsyukova
Department of Biochemistry, Duke University Medical Center, Durham, North Carolina 27710, USA
RNA 19:103-15. 2013..This may be relevant for both T cell ontogeny and function and development of multiple sclerosis...
- Refinement of 2q and 7p loci in a large multiplex NTD familyDemetra S Stamm
Center for Human Genetics, Duke University Medical Center, Durham, North Carolina 27710, USA
Birth Defects Res A Clin Mol Teratol 82:441-52. 2008..Previous linkage analysis using a genome-wide SNP screen in family 8776 with multipoint nonparametric mapping methods identified maximum LOD* scores of approximately 3.0 mapping to 2q33.1-q35 and 7p21.1-pter...
- A general integrative genomic feature transcription factor binding site prediction method applied to analysis of USF1 binding in cardiovascular diseaseTianyuan Wang
Department of Medicine and Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA
Hum Genomics 3:221-35. 2009..This method can be extended to other transcription factors identified in human disease studies to help further our understanding of the biology of complex disease...