Research Topics
Genomes and Genes
Species | Dan E ArkingSummaryAffiliation: Johns Hopkins University Country: USA Publications
Research Grants
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Detail Information
Publications
The genetics of sudden cardiac deathDan 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....- Postmortem cardiac tissue maintains gene expression profile even after late harvestingSimone 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... - Differences in mtDNA haplogroup distribution among 3 Jewish populations alter susceptibility to T2DM complicationsJeanette 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... - Identification of a sudden cardiac death susceptibility locus at 2q24.2 through genome-wide association in European ancestry individualsDan 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 (P = 0.006)... 
Understanding cardiovascular disease through the lens of genome-wide association studiesDan 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...- Multiple independent genetic factors at NOS1AP modulate the QT interval in a multi-ethnic populationDan 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... 
Genomics in sudden cardiac deathDan 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...- Genome-wide association study identifies GPC5 as a novel genetic locus protective against sudden cardiac arrestDan 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... - Genetic variations in nitric oxide synthase 1 adaptor protein are associated with sudden cardiac death in US white community-based populationsW H Linda Kao
Department of Epidemiology, Johns Hopkins University School of Medicine, 733 N Broadway, Baltimore, MD 21205, USA
Circulation 119:940-51. 2009.... - Comprehensive evaluation of imputation performance in African AmericansPritam Chanda
Department of Biomedical Engineering, Johns Hopkins University, Baltimore, MD 21205, USA
J Hum Genet 57:411-21. 2012.... - Associations between genetic variants in the NOS1AP (CAPON) gene and cardiac repolarization in the old order AmishWendy 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... - Polymorphisms in the mitochondrial DNA control region and frailty in older adultsAnn 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... - A common genetic variant in the neurexin superfamily member CNTNAP2 increases familial risk of autismDan 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... - Multiple loci associated with indices of renal function and chronic kidney diseaseAnna 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... - Exploring biologically relevant pathways in frailtyYen 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... - Variation in the ciliary neurotrophic factor gene and muscle strength in older Caucasian womenDan 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... - A common genetic variant in the NOS1 regulator NOS1AP modulates cardiac repolarizationDan 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... - Association between a functional variant of the KLOTHO gene and high-density lipoprotein cholesterol, blood pressure, stroke, and longevityDan 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... - Widespread microRNA repression by Myc contributes to tumorigenesisTsung 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... - Hybrids of aneuploid human cancer cells permit complementation of simple and complex cancer defectsDavid 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... - Genetic variants in platelet factor 4 modulate inflammatory and platelet activation biomarkersPallav 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... - Validation and extension of an empirical Bayes method for SNP calling on Affymetrix microarraysShin 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... - Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patientsPallav 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... - Mitochondrial DNA variants of respiratory complex I that uniquely characterize haplogroup T2 are associated with increased risk of age-related macular degenerationJohn Paul SanGiovanni
National Eye Institute NEI National Institutes of Health NIH, Bethesda, Maryland, United States of America
PLoS ONE 4:e5508. 2009..19, 95%CI 1.19-22.69, P<or=0.029). CONCLUSION: Loci defining the mtDNA T2 haplogroup and Complex I are reasonable targets for novel functional analyses and therapeutic research in AMD... - KLOTHO allele status and the risk of early-onset occult coronary artery diseaseDan 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... - Gene-based tests of associationHailiang 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... - Identifying allelic loss and homozygous deletions in pancreatic cancer without matched normals using high-density single-nucleotide polymorphism arraysEric 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... - Relative contribution of genetic and nongenetic modifiers to intestinal obstruction in cystic fibrosisScott 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..CONCLUSIONS: The CFTR gene along with 2 or more modifier genes are the major determinants of intestinal obstruction in newborn CF patients, whereas intestinal obstruction in older CF patients is caused primarily by nongenetic factors... - Transactivation of miR-34a by p53 broadly influences gene expression and promotes apoptosisTsung 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... - New loci associated with kidney function and chronic kidney diseaseAnna 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... - Genomic alterations in cultured human embryonic stem cellsAnirban 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.... - Association of human aging with a functional variant of klothoDan 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... - Human embryonic stem cells have a unique epigenetic signatureMarina 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... - Association between microdeletion and microduplication at 16p11.2 and autismLauren 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 Grants
- Genome-Wide Screens for Autism Susceptibility LociDan 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. ..