Genomes and Genes
Simon G Gregory
Affiliation: Duke University Medical Center
- 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...
- 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...
- 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. AVAILABILITY: SNPselector is freely available at http://primer.duhs.duke.edu/..
- 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....
- 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...
- 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...
- 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...
- 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...
- 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...
- 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...
- 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...
- 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...