Dan E Arking

Summary

Affiliation: Johns Hopkins University
Country: USA

Publications

  1. pmc Postmortem cardiac tissue maintains gene expression profile even after late harvesting
    Simone Gupta
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
    BMC Genomics 13:26. 2012
  2. pmc RNA-Seq optimization with eQTL gold standards
    Shannon E Ellis
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, USA
    BMC Genomics 14:892. 2013
  3. pmc The genetics of sudden cardiac death
    Dan E Arking
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21209, USA
    Annu Rev Genomics Hum Genet 13:223-39. 2012
  4. pmc Differences in mtDNA haplogroup distribution among 3 Jewish populations alter susceptibility to T2DM complications
    Jeanette Feder
    Department of Life Sciences and National Institute of Biotechnology in the Negev, Ben Gurion University of the Negev, Beer Sheva, Israel
    BMC Genomics 9:198. 2008
  5. pmc Multiple independent genetic factors at NOS1AP modulate the QT interval in a multi-ethnic population
    Dan E Arking
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America
    PLoS ONE 4:e4333. 2009
  6. pmc Identification of a sudden cardiac death susceptibility locus at 2q24.2 through genome-wide association in European ancestry individuals
    Dan E Arking
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America
    PLoS Genet 7:e1002158. 2011
  7. doi Understanding cardiovascular disease through the lens of genome-wide association studies
    Dan E Arking
    Center for Complex Disease Genomics, McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
    Trends Genet 25:387-94. 2009
  8. ncbi Genomics in sudden cardiac death
    Dan E Arking
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, 733 N Broadway, Room 580, Baltimore, MD 21205, USA
    Circ Res 94:712-23. 2004
  9. pmc Genome-wide association study identifies GPC5 as a novel genetic locus protective against sudden cardiac arrest
    Dan E Arking
    Center for Complex Diseases Genomics, McKusick Nathans Institute of Genetic Medicine, The Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America
    PLoS ONE 5:e9879. 2010
  10. pmc Defining the contribution of CNTNAP2 to autism susceptibility
    Srirangan Sampath
    Center for Complex Disease Genomics, McKusick Nathans Institute of Genetics Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America
    PLoS ONE 8:e77906. 2013

Research Grants

Detail Information

Publications43

  1. pmc Postmortem cardiac tissue maintains gene expression profile even after late harvesting
    Simone Gupta
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
    BMC Genomics 13:26. 2012
    ..One major technical concern about using autopsy-derived tissue is how representative it is of physiologic conditions, given the effect of postmortem interval on tissue degradation...
  2. pmc RNA-Seq optimization with eQTL gold standards
    Shannon E Ellis
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, USA
    BMC Genomics 14:892. 2013
    ..Further, a method to assess normalization and adjustment measures imposed on the data is lacking...
  3. pmc The genetics of sudden cardiac death
    Dan E Arking
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21209, USA
    Annu Rev Genomics Hum Genet 13:223-39. 2012
    ....
  4. pmc Differences in mtDNA haplogroup distribution among 3 Jewish populations alter susceptibility to T2DM complications
    Jeanette Feder
    Department of Life Sciences and National Institute of Biotechnology in the Negev, Ben Gurion University of the Negev, Beer Sheva, Israel
    BMC Genomics 9:198. 2008
    ..Nevertheless these large-scale population screens often overlook the tremendous variation in the mitochondrial genome (mtDNA) and its involvement in complex disorders...
  5. pmc Multiple independent genetic factors at NOS1AP modulate the QT interval in a multi-ethnic population
    Dan E Arking
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America
    PLoS ONE 4:e4333. 2009
    ..These results highlight the consistent and complex role of NOS1AP genetic variants in modulating QT interval...
  6. pmc Identification of a sudden cardiac death susceptibility locus at 2q24.2 through genome-wide association in European ancestry individuals
    Dan E Arking
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America
    PLoS Genet 7:e1002158. 2011
    ..Consistent with epidemiological studies showing increased risk of SCD with prolonged QRS/QT intervals, the interval-prolonging alleles are in aggregate associated with increased risk for SCD (Pā€Š=ā€Š0.006)...
  7. doi Understanding cardiovascular disease through the lens of genome-wide association studies
    Dan E Arking
    Center for Complex Disease Genomics, McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
    Trends Genet 25:387-94. 2009
    ..Although GWAS face several technical challenges, including the potential for both false-positive and false-negative findings, they are starting to provide a unique view of the genetic architecture of a common disease...
  8. ncbi Genomics in sudden cardiac death
    Dan E Arking
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, 733 N Broadway, Room 580, Baltimore, MD 21205, USA
    Circ Res 94:712-23. 2004
    ..The development of novel strategies to identify contributors to susceptibility in common cardiac phenotypes is most likely to lead to new and relevant therapeutic targets for SCD...
  9. pmc Genome-wide association study identifies GPC5 as a novel genetic locus protective against sudden cardiac arrest
    Dan E Arking
    Center for Complex Diseases Genomics, McKusick Nathans Institute of Genetic Medicine, The Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America
    PLoS ONE 5:e9879. 2010
    ..We performed a GWAS to identify genetic determinants of SCA...
  10. pmc Defining the contribution of CNTNAP2 to autism susceptibility
    Srirangan Sampath
    Center for Complex Disease Genomics, McKusick Nathans Institute of Genetics Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America
    PLoS ONE 8:e77906. 2013
    ..9 x10(-5)). Consequently, this study suggests that although CNTNAP2 dysregulation plays a role in some cases, its population contribution to autism susceptibility is limited. ..
  11. pmc Genetic variations in nitric oxide synthase 1 adaptor protein are associated with sudden cardiac death in US white community-based populations
    W H Linda Kao
    Department of Epidemiology, Johns Hopkins University School of Medicine, 733 N Broadway, Baltimore, MD 21205, USA
    Circulation 119:940-51. 2009
    ....
  12. pmc Associations between genetic variants in the NOS1AP (CAPON) gene and cardiac repolarization in the old order Amish
    Wendy Post
    Division of Cardiology, Department of Medicine, Johns Hopkins University, Baltimore, MD 21287, USA
    Hum Hered 64:214-9. 2007
    ..The purpose of the current study was to replicate this association in the Old Order Amish...
  13. pmc Comprehensive evaluation of imputation performance in African Americans
    Pritam Chanda
    Department of Biomedical Engineering, Johns Hopkins University, Baltimore, MD 21205, USA
    J Hum Genet 57:411-21. 2012
    ....
  14. pmc Multiple loci associated with indices of renal function and chronic kidney disease
    Anna Kottgen
    Department of Epidemiology, Johns Hopkins University, Baltimore, Maryland, USA
    Nat Genet 41:712-7. 2009
    ..Our findings provide new insights into CKD pathogenesis and underscore the importance of common genetic variants influencing renal function and disease...
  15. pmc Genome-wide meta-analysis of systolic blood pressure in children with sickle cell disease
    Pallav Bhatnagar
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America
    PLoS ONE 8:e74193. 2013
    ....
  16. pmc Polymorphisms in the mitochondrial DNA control region and frailty in older adults
    Ann Z Moore
    Department of Epidemiology, Johns Hopkins Bloomberg School of Public Health, Baltimore, Maryland, USA
    PLoS ONE 5:e11069. 2010
    ..Mitochondrial genetic variation may contribute to altered susceptibility to the frailty syndrome in older adults...
  17. ncbi A common genetic variant in the NOS1 regulator NOS1AP modulates cardiac repolarization
    Dan E Arking
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA
    Nat Genet 38:644-51. 2006
    ..Approximately 60% of subjects of European ancestry carry at least one minor allele of the NOS1AP genetic variant, which explains up to 1.5% of QT interval variation...
  18. ncbi An enhancer polymorphism at the cardiomyocyte intercalated disc protein NOS1AP locus is a major regulator of the QT interval
    Ashish Kapoor
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
    Am J Hum Genet 94:854-69. 2014
    ..These results suggest that focused studies of proteins within the cardiomyocyte ID are likely to provide insights into QT prolongation and its associated disorders. ..
  19. pmc A common genetic variant in the neurexin superfamily member CNTNAP2 increases familial risk of autism
    Dan E Arking
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
    Am J Hum Genet 82:160-4. 2008
    ..Importantly, the genetic variant displays a parent-of-origin and gender effect recapitulating the inheritance of autism...
  20. ncbi Association between a functional variant of the KLOTHO gene and high-density lipoprotein cholesterol, blood pressure, stroke, and longevity
    Dan E Arking
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
    Circ Res 96:412-8. 2005
    ..Thus, cross-sectional and prospective studies confirm a genetic model in which the KL-VS allele confers a heterozygous advantage in conjunction with a marked homozygous disadvantage for HDL-C levels, SBP, stroke, and longevity...
  21. ncbi Variation in the ciliary neurotrophic factor gene and muscle strength in older Caucasian women
    Dan E Arking
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University, 733 N Broadway, Baltimore, MD 21205, USA
    J Am Geriatr Soc 54:823-6. 2006
    ..To determine whether genetic variants in the ciliary neurotrophic factor (CNTF) gene are associated with muscle strength in older women...
  22. pmc Fast association tests for genes with FAST
    Pritam Chanda
    Department of Biomedical Engineering and Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland, United States of America
    PLoS ONE 8:e68585. 2013
    ....
  23. pmc Fine-mapping and initial characterization of QT interval loci in African Americans
    Christy L Avery
    Department of Epidemiology, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, United States of America
    PLoS Genet 8:e1002870. 2012
    ....
  24. pmc Exploring biologically relevant pathways in frailty
    Yen Yi Ho
    Division of Geriatric Medicine and Gerontology, Johns Hopkins University School of Medicine, 5505 Bayview Circle, Baltimore, MD 21224, USA
    J Gerontol A Biol Sci Med Sci 66:975-9. 2011
    ..As with longevity research, genetic analyses may help to provide insights into biologically relevant pathways that contribute to frailty...
  25. doi Association between baseline fetal hemoglobin levels and incidence of severe vaso-occlusive pain episodes in children with sickle cell anemia
    Pallav Bhatnagar
    McKusick Nathans Institute of Genetic Medicine, School of Medicine, Johns Hopkins University, Baltimore, MD 21205, USA
    Pediatr Blood Cancer 60:E125-7. 2013
    ..02)...
  26. pmc Hybrids of aneuploid human cancer cells permit complementation of simple and complex cancer defects
    David A Dezentje
    Department of Oncology, Johns Hopkins University School of Medicine, Baltimore, MD, USA
    Cancer Biol Ther 8:347-55. 2009
    ..Fusing CIN cell lines to form mapped hybrids offers new tools for positional cloning or classification of simple and complex cancer phenotypes, including mechanical defects and altered drug responses...
  27. pmc Widespread microRNA repression by Myc contributes to tumorigenesis
    Tsung Cheng Chang
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA
    Nat Genet 40:43-50. 2008
    ..We further show that enforced expression of repressed miRNAs diminishes the tumorigenic potential of lymphoma cells. These results demonstrate that extensive reprogramming of the miRNA transcriptome by Myc contributes to tumorigenesis...
  28. pmc Genetic variants in platelet factor 4 modulate inflammatory and platelet activation biomarkers
    Pallav Bhatnagar
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
    Circ Cardiovasc Genet 5:412-21. 2012
    ..Previous studies have pointed to the role of vascular inflammation and platelet activation in the formation of atherosclerotic lesions...
  29. pmc Validation and extension of an empirical Bayes method for SNP calling on Affymetrix microarrays
    Shin Lin
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, N Broadway, Baltimore, MD 21205, USA
    Genome Biol 9:R63. 2008
    ..Also, we tie our call confidence metric to percent accuracy. We intend that our validation datasets and methods, refered to as SNPaffycomp, serve as standard benchmarks for future SNP calling algorithms...
  30. doi Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients
    Pallav Bhatnagar
    McKusick Nathans Institute of Genetic Medicine, School of Medicine, Johns Hopkins University, Baltimore, MD 21205, USA
    J Hum Genet 56:316-23. 2011
    ..These findings highlight the importance of denser genetic screens and suggest further exploration of the BCL11A and GLP2R loci to gain additional insight into HbF/F-cell regulation...
  31. ncbi Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization
    Dan E Arking
    1 Center for Complex Disease Genomics, McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA 2
    Nat Genet 46:826-36. 2014
    ....
  32. pmc Mitochondrial DNA variants of respiratory complex I that uniquely characterize haplogroup T2 are associated with increased risk of age-related macular degeneration
    John Paul SanGiovanni
    National Eye Institute NEI National Institutes of Health NIH, Bethesda, Maryland, United States of America
    PLoS ONE 4:e5508. 2009
    ....
  33. pmc Gene-based tests of association
    Hailiang Huang
    Department of Biomedical Engineering, Johns Hopkins University, Baltimore, Maryland, United States of America
    PLoS Genet 7:e1002177. 2011
    ..This method can be generalized to other study designs, retains power for low-frequency alleles, and provides gene-based p-values that are directly compatible for pathway-based meta-analysis...
  34. pmc Novel loci associated with PR interval in a genome-wide association study of 10 African American cohorts
    Anne M Butler
    Department of Epidemiology, University of North Carolina, Chapel Hill, 27514, USA
    Circ Cardiovasc Genet 5:639-46. 2012
    ..However, few studies have examined loci associated with PR in African Americans...
  35. pmc KLOTHO allele status and the risk of early-onset occult coronary artery disease
    Dan E Arking
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
    Am J Hum Genet 72:1154-61. 2003
    ..Modifiable risk factors, including hypertension, smoking status, and HDL-C level, appear to influence the risk imposed by this allele...
  36. ncbi Identifying allelic loss and homozygous deletions in pancreatic cancer without matched normals using high-density single-nucleotide polymorphism arrays
    Eric S Calhoun
    Department of Oncology, The Sol Goldman Pancreatic Cancer Research Center at the Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins Medical Institutes, Baltimore, MD 21231, USA
    Cancer Res 66:7920-8. 2006
    ..This study provides previously unavailable high-resolution allelotype and deletion breakpoint maps in widely shared pancreatic cancer cell lines and effectively eliminates the need for matched normal tissue to define informative loci...
  37. pmc Relative contribution of genetic and nongenetic modifiers to intestinal obstruction in cystic fibrosis
    Scott M Blackman
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, 733 North Broadway, Baltimore, MD 21287, USA
    Gastroenterology 131:1030-9. 2006
    ..Our aim was to determine the relative contribution of genetic and nongenetic modifiers to the development of this major complication of CF...
  38. ncbi Genomic alterations in cultured human embryonic stem cells
    Anirban Maitra
    McKusick Nathans Institute of Genetic Medicine, Department of Pathology, The Sol Goldman Pancreatic Cancer Research Center, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA
    Nat Genet 37:1099-103. 2005
    ....
  39. pmc Transactivation of miR-34a by p53 broadly influences gene expression and promotes apoptosis
    Tsung Cheng Chang
    The McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
    Mol Cell 26:745-52. 2007
    ..Therefore, it is likely that an important function of miR-34a is the modulation and fine-tuning of the gene expression program initiated by p53...
  40. pmc New loci associated with kidney function and chronic kidney disease
    Anna Kottgen
    Department of Epidemiology, Johns Hopkins University, Baltimore, Maryland, USA
    Nat Genet 42:376-84. 2010
    ..These results further our understanding of the biologic mechanisms of kidney function by identifying loci that potentially influence nephrogenesis, podocyte function, angiogenesis, solute transport and metabolic functions of the kidney...
  41. pmc Association of human aging with a functional variant of klotho
    Dan E Arking
    Institute of Genetic Medicine, Johns Hopkins School of Medicine, Baltimore, MD 21205, USA
    Proc Natl Acad Sci U S A 99:856-61. 2002
    ..These results suggest that the KL-VS allele influences the trafficking and catalytic activity of klotho, and that variation in klotho function contributes to heterogeneity in the onset and severity of human age-related phenotypes...
  42. pmc Human embryonic stem cells have a unique epigenetic signature
    Marina Bibikova
    Illumina, Inc, San Diego, California 92121, USA
    Genome Res 16:1075-83. 2006
    ..Our results indicate that hES cells have a unique epigenetic signature that may contribute to their developmental potential...
  43. doi Association between microdeletion and microduplication at 16p11.2 and autism
    Lauren A Weiss
    Autism Consortium, Boston, USA
    N Engl J Med 358:667-75. 2008
    ..Autism spectrum disorder is a heritable developmental disorder in which chromosomal abnormalities are thought to play a role...

Research Grants1

  1. Genome-Wide Screens for Autism Susceptibility Loci
    Dan Arking; Fiscal Year: 2004
    ..These techniques should prove particularly robust for susceptibility gene identification, as they are not hindered by the current limited understanding of both gene function and regulation. ..