Research Topics
Species | Dietrich StephanSummaryAffiliation: Translational Genomics Research Institute Country: USA Publications
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Detail Information
Publications
Therapeutic targets for HIV-1 infection in the host proteomeWinnie S Liang
Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ 85004, USA
Retrovirology 2:20. 2005..Therefore, to identify cellular proteins that may be up-regulated in HIV infection and play a role in infection, we analyzed the effects of Tat on cellular gene expression during various phases of the cell cycle...- A novel role for cyclooxygenase-2 in regulating vascular channel formation by human breast cancer cellsGargi D Basu
Department of Biochemistry and Molecular Biology, Mayo Clinic, 13400 E, Shea Blvd, Scottsdale, Arizona 85259, USA
Breast Cancer Res 8:R69. 2006..Vascular channels have been associated with angiogenesis without involvement of endothelial cells, and may serve as another mechanism by which tumor cells obtain nutrients to survive, especially in less vascularized regions of the tumor... - Cognitive dysfunction in NF1 knock-out mice may result from altered vesicular trafficking of APP/DRD3 complexElizabeth A Donarum
Developmental Neurogenetics Laboratory, Barrow Neurological Institute, St Joseph s Hospital and Medical Center, Phoenix, AZ 85013, USA
BMC Neurosci 7:22. 2006..It is proposed that the cognitive deficits in NF1 are the result of dysfunctional cellular trafficking and localization of molecules downstream of the primary gene defect... - SNiPer: improved SNP genotype calling for Affymetrix 10K GeneChip microarray dataMatthew J Huentelman
Neurogenomics Division, The Translational Genomics Research Institute TGen, Phoenix, Arizona 85004, USA
BMC Genomics 6:149. 2005..We describe here the implementation of clustering algorithms on large training datasets resulting in improved SNP call rates on the 10K GeneChip... - Identification of disease causing loci using an array-based genotyping approach on pooled DNADavid W Craig
Neurogenomics Division, Translational Genomics Research Institute TGen, Phoenix, Arizona 85004, USA
BMC Genomics 6:138. 2005.... - Inter-platform comparability of microarrays in acute lymphoblastic leukemiaStephanie A Mitchell
Research Center for Genetic Medicine, Children s National Medical Center, Institute of Biomedical Sciences, George Washington University Medical Center, Washington, D C 20037, USA
BMC Genomics 5:71. 2004..Lists of genes that are differentially expressed in the six major subclasses of ALL have previously been reported in the literature as possible predictors of the subclass... - Unraveling autismDietrich A Stephan
Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ 85004, USA
Am J Hum Genet 82:7-9. 2008..In this issue of AJHG, Alarcón et al.,(1) Arking et al.,(2) and Bakkaloglu et al.(3) identify a series of functional variants in the CNTNAP2 gene that unequivocally implicate this gene as causing Type 1 autism in the general population... - Multimarker analysis and imputation of multiple platform pooling-based genome-wide association studiesNils Homer
Translational Genomics Research Institute TGen, Phoenix, AZ 85004, USA
Bioinformatics 24:1896-902. 2008..This multimarker method can now be used to cost-effectively complete pooling-based GWA studies with multiple platforms across over one million SNPs and to impute neighboring SNPs weighted for the loss of information due to pooling... - Gene expression profiles in anatomically and functionally distinct regions of the normal aged human brainWinnie S Liang
Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ 85004, USA
Physiol Genomics 28:311-22. 2007..These neuronal profiles will provide valuable reference information for future studies of the brain, in normal aging, AD and other neurological and psychiatric disorders... 
SNiPer-HD: improved genotype calling accuracy by an expectation-maximization algorithm for high-density SNP arraysJianping Hua
Computational Biology Division Phoenix, 445 N 5th Street, Phoenix, AZ, USA
Bioinformatics 23:57-63. 2007..However, we find that some errors introduced by commonly employed genotyping algorithms may lead to inflation of false associations between markers and phenotype...- Common Kibra alleles are associated with human memory performanceAndreas Papassotiropoulos
Division of Psychiatry Research, University of Zurich, Zurich 8057, Switzerland
Science 314:475-8. 2006..Functional magnetic resonance imaging detected KIBRA allele-dependent differences in hippocampal activations during memory retrieval. Evidence from these experiments suggests a role for KIBRA in human memory... - Preliminary demonstration of an allelic association of the IREB2 gene with Alzheimer's diseaseKeith D Coon
Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ 85004, USA
J Alzheimers Dis 9:225-33. 2006..Confirmation of this association in a larger cohort of cases and controls would further support the role of iron regulation in the pathogenesis of this catastrophic and increasingly common neurodegenerative disorder... - Identification of somatic chromosomal abnormalities in hypothalamic hamartoma tissue at the GLI3 locusDavid W Craig
The Translational Genomics Research Institute, Neurogenomics Division, Phoenix, AZ 85004, USA
Am J Hum Genet 82:366-74. 2008..Chromosomal abnormalities including the GLI3 locus were seen in 8 of 55 (15%) of the resected HH tissue samples. These somatic mutations appear to be highly variable... - Genetics, transcriptomics, and proteomics of Alzheimer's diseaseAndreas Papassotiropoulos
Division of Psychiatry Research, University of Zurich, Zurich, Switzerland
J Clin Psychiatry 67:652-70. 2006.... - Resolving individuals contributing trace amounts of DNA to highly complex mixtures using high-density SNP genotyping microarraysNils Homer
Translational Genomics Research Institute, Phoenix, Arizona, United States of America
PLoS Genet 4:e1000167. 2008..These findings also suggest that composite statistics across cohorts, such as allele frequency or genotype counts, do not mask identity within genome-wide association studies. The implications of these findings are discussed... - Expression profiling reveals multiple myelin alterations in murine succinate semialdehyde dehydrogenase deficiencyElizabeth A Donarum
Developmental Neurogenetics Research Laboratory, Barrow Neurological Institute, Phoenix, Arizona, USA
J Inherit Metab Dis 29:143-56. 2006.... - Identification of genetic variants using bar-coded multiplexed sequencingDavid W Craig
The Translational Genomics Research Institute, Phoenix, Arizona 85004, USA
Nat Methods 5:887-93. 2008..These results suggest that >90% of genetic variants are discoverable using multiplexed sequencing provided sufficient coverage at the polymorphic base... - Cyclooxygenase-2 inhibitors in human skeletal fracture healingAaron Daluiski
Hospital for Special Surgery, New York, NY, USA
Orthopedics 29:259-61. 2006..This article recapitulates that an initial immune response is crucial to fracture healing and suggests limited usage of COX-2 inhibitors in patients with healing fractures... - Common sequence variants on 20q11.22 confer melanoma susceptibilityKevin M Brown
Integrated Cancer Genomics Division, The Translational Genomics Research Institute, Phoenix, Arizona 85028, USA
Nat Genet 40:838-40. 2008..The per allele odds ratio was 1.75 (1.53, 2.01), with evidence for stronger association in early-onset cases... - Identification of the genetic basis for complex disorders by use of pooling-based genomewide single-nucleotide-polymorphism association studiesJohn V Pearson
Translational Genomics Research Institute, Phoenix, AZ, 85004, USA
Am J Hum Genet 80:126-39. 2007.... - Chromosomal abnormality at 6p25.1-25.3 identifies a susceptibility locus for hypothalamic hamartoma associated with epilepsyJohn F Kerrigan
Epilepsy Center and Division of Pediatric Neurology, Barrow Neurological Institute and Children s Health Center, St Joseph s Hospital and Medical Center, Phoenix, AZ 85013, USA
Epilepsy Res 75:70-3. 2007..8 Mb to 9.7 Mb. There are 38 RefSeq genes within the duplicated regions, and no known coding sequences within the deletion. This unique patient helps identify 6p25.1-25.3 as a possible susceptibility locus for sporadic HH... - Whole-genome analysis of sporadic amyotrophic lateral sclerosisTravis Dunckley
Translational Genomics Research Inst, Phoenix, AZ 85004, USA
N Engl J Med 357:775-88. 2007..Approximately 90% of persons with amyotrophic lateral sclerosis (ALS) have the sporadic form, which may be caused by the interaction of multiple environmental factors and previously unknown genes... - Visualization of uniparental inheritance, Mendelian inconsistencies, deletions, and parent of origin effects in single nucleotide polymorphism trio data with SNPtrioJason C Ting
Department of Neurology, Kennedy Krieger Institute, Baltimore, Maryland 21205, USA
Hum Mutat 28:1225-35. 2007..SNPtrio is freely accessible at http://pevsnerlab.kennedykrieger.org/SNPtrio.htm (Last accessed: 20 June 2007)... - GAB2 alleles modify Alzheimer's risk in APOE epsilon4 carriersEric M Reiman
Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, 85004, USA
Neuron 54:713-20. 2007..Our findings suggest that GAB2 modifies LOAD risk in APOE epsilon4 carriers and influences Alzheimer's neuropathology... - Polyhydramnios, megalencephaly and symptomatic epilepsy caused by a homozygous 7-kilobase deletion in LYK5Erik G Puffenberger
Clinic for Special Children, 535 Bunker Hill Road, Strasburg, PA 17579, USA
Brain 130:1929-41. 2007.... - A high-density whole-genome association study reveals that APOE is the major susceptibility gene for sporadic late-onset Alzheimer's diseaseKeith D Coon
Neurogenomics Division, Translational Genomics Research Institute, Phoenix, Ariz 85004, USA
J Clin Psychiatry 68:613-8. 2007.... - Calmodulin-binding transcription activator 1 (CAMTA1) alleles predispose human episodic memory performanceMatthew J Huentelman
Neurogenomics Division, The Translational Genomics Research Institute, 445 N Fifth Street, Phoenix, AZ 85004, USA
Hum Mol Genet 16:1469-77. 2007..Our validated genomic and functional biological findings described herein suggest a role for CAMTA1 in human episodic memory... - Altered neuronal gene expression in brain regions differentially affected by Alzheimer's disease: a reference data setWinnie S Liang
Neurogenomics Division, Translational Genomics Research Institute, Phoenix, Arizona 85004, USA
Physiol Genomics 33:240-56. 2008..We provide this carefully phenotyped, laser capture microdissected intraindividual brain region expression data set to the community as a public resource... - A generic research paradigm for identification and validation of early molecular diagnostics and new therapeutics in common disordersKeith D Coon
Neurogenomics Division, The Translational Genomics Research Institute, Phoenix, AZ 85004, USA
Mol Diagn Ther 11:1-14. 2007.... - SNP-based chromosomal copy number ascertainment following multiple displacement whole-genome amplificationJason J Corneveaux
The Translational Genomics Research Institute, Phoenix, AZ 85004, USA
Biotechniques 42:77-83. 2007..We recommend that small amounts of patient cohort DNA stocks be set aside and not subjected to whole genome amplification in order to facilitate the unbiased determination of chromosomal copy numbers when desired... - Identification of a novel risk locus for progressive supranuclear palsy by a pooled genomewide scan of 500,288 single-nucleotide polymorphismsStacey Melquist
Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, FL 32224, USA
Am J Hum Genet 80:769-78. 2007..Since DNA damage and lysosomal dysfunction have been implicated in aging and neurodegenerative processes, both genes are viable candidates for conferring risk of disease... - A genomic map of a 6-Mb region at 13q21-q22 implicated in cancer development: identification and characterization of candidate genesEster Rozenblum
Cancer Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
Hum Genet 110:111-21. 2002..These data provide a basis and resources for further analyses of this chromosomal region in the development of cancer... - Mapping of sudden infant death with dysgenesis of the testes syndrome (SIDDT) by a SNP genome scan and identification of TSPYL loss of functionErik G Puffenberger
Clinic for Special Children, Strasburg, PA 17579, USA
Proc Natl Acad Sci U S A 101:11689-94. 2004..These results shed light on the pathogenesis of a disorder of sexual differentiation and brainstem-mediated sudden death, as well as give insight into a mechanism of transcriptional regulation... - Biomarker identification in neurologic diseases: improving diagnostics and therapeuticsKeith D Coon
The Translational Genomics Research Institute, 400 N Fifth Street, Suite 1600, Phoenix, AZ 85004, USA
Expert Rev Mol Diagn 4:361-75. 2004..These challenges and ways to overcome them are presented here in the context of a disease known to be a robust model for biomarker identification, Alzheimer's disease... - Microarray analysis of changes in mRNA levels in the rat retina after experimental elevation of intraocular pressureFarid Ahmed
Laboratory of Molecular and Developmental Biology, National Eye Institute, Bethesda, Maryland 20814-9692, USA
Invest Ophthalmol Vis Sci 45:1247-58. 2004.... - Gene arrays and temporal patterns of drug response: corticosteroid effects on rat liverRichard R Almon
Department of Biological Sciences, SUNY at Buffalo, 107 Hochstetter Hall, Buffalo, NY 14260, USA
Funct Integr Genomics 3:171-9. 2003.... - Integrating microarrays into disease-gene identification strategiesSeth E Dobrin
Neurobehavioral Branch, Neurogenomics Program, TGen, The Translational Genomics Research Institute, 400 North Fifth Street, Suite 1600, Phoenix, AZ 85004, USA
Expert Rev Mol Diagn 3:375-85. 2003..The resultant insight forms the basis for improved molecular diagnostics and novel therapeutic targets... - Overexpression of the EGFR/FKBP12/HIF-2alpha pathway identified in childhood astrocytomas by angiogenesis gene profilingSoumen Khatua
Center for Cancer Research, Children's Research Institute, Washington, DC 20010, USA
Cancer Res 63:1865-70. 2003..02). We conclude that the EGFR/FKBP12/HIF-2alpha pathway is important in childhood HGA and represents a potential new therapeutic target... - Novel mutations in the CLN6 gene causing a variant late infantile neuronal ceroid lipofuscinosisCarla A Teixeira
Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710, USA
Hum Mutat 21:502-8. 2003..25% of affected CLN6 Portuguese alleles; and 5) three vLINCL Portuguese patients may have defects in a new NCL gene... - Containing multitudes: focus on "novel and nondetected human signaling protein polymorphisms"Dietrich A Stephan
Physiol Genomics 10:127-9. 2002 - Nuclear factor 90 mediates activation of the cellular antiviral expression cascadeIrina Krasnoselskaya-Riz
Department of Biochemistry and Molecular Biology, George Washington University School of Medicine, Washington, D.C. 20037, USA
AIDS Res Hum Retroviruses 18:591-604. 2002..This leads to a hypothesis as to the mechanism of action of NF90 in mediating endogenous antiviral responses... - Gene and protein expression changes in human trabecular meshwork cells treated with transforming growth factor-betaXiujun Zhao
Section on Aging and Ocular Disease, National Eye Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
Invest Ophthalmol Vis Sci 45:4023-34. 2004..These results are consistent with changes observed in the trabecular meshwork in glaucoma and suggest that at least some of the histologic alterations observed in the meshwork in glaucoma may be the result of increased TGF-betas... - Discovery and development of biomarkers of neurological diseaseTravis Dunckley
Neurogenomics Division, The Translational Genomics Research Institute, Phoenix, AZ 85004, USA
Drug Discov Today 10:326-34. 2005.... - Genome-wide SNP arrays as a diagnostic tool: clinical description, genetic mapping, and molecular characterization of Salla disease in an Old Order Mennonite populationKevin A Strauss
Clinic for Special Children, Strasburg, PA 17579, USA
Am J Med Genet A 138:262-7. 2005..In families with shared genetic heritage, genome-wide SNP arrays with relatively high marker density allow disease gene mapping studies to be incorporated into routine diagnostic evaluations... - Rare variants of the gene encoding the potassium chloride co-transporter 3 are associated with bipolar disorderJobst Meyer
Clinical and Molecular Psychobiology, Department of Psychiatry and Psychotherapy, University of Wuerzburg, Germany
Int J Neuropsychopharmacol 8:495-504. 2005..Our data strongly suggest that rare variants of SLC12A6 may represent risk factors for bipolar disorder... - Applications of whole-genome high-density SNP genotypingDavid W Craig
The Translational Genomics Research Institute, Neurogenomics Division, 445 North Fifth Street, Phoenix, AZ 85004, USA
Expert Rev Mol Diagn 5:159-70. 2005..In this review, the immediate applications and implications of the rapidly changing high-density, whole-genome single nucleotide polymorphism genotyping field on translational research will be described... - A major locus for hereditary prostate cancer in Finland: localization by linkage disequilibrium of a haplotype in the HPCX regionAgnes B Baffoe-Bonnie
Division of Population Science, Fox Chase Cancer Center, 333 Cottman Avenue, Philadelphia, PA 19111, USA
Hum Genet 117:307-16. 2005..This study represents the first report identifying a haplotype in the Xq27-28 region for an association between HPCX and X-linked prostate cancer with no-male-to-male transmission in the Finnish population... - The Autism Genome Project: goals and strategiesDiane Hu-Lince
Neurogenomics Division, Translational Genomics Research Institute, Phoenix, Arizona 85004, USA
Am J Pharmacogenomics 5:233-46. 2005..From this knowledge, therapeutic targets for drug treatments, and ultimately, a newborn screening diagnostic that would allow for early intervention, can begin to be developed... - Effects of prostaglandin analogues on human ciliary muscle and trabecular meshwork cellsXiujun Zhao
Laboratory of Mechanisms of Ocular Diseases, National Eye Institute, National Institutes of Health, Bethesda, Maryland, USA
Invest Ophthalmol Vis Sci 44:1945-52. 2003..Other changes may influence cellular metabolism, such as the increases in IGF1, tumor necrosis factor superfamily-10 and promelanosome-concentrating hormone... 
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...- The genetics of tethered cord syndromeAlexander G Bassuk
Am J Med Genet A 132:450-3. 2005 - Gene expression correlates of neurofibrillary tangles in Alzheimer's diseaseTravis Dunckley
Neurogenomics Division, Translational Genomics Research Institute, 445 North 5th Street, Phoenix, AZ 85004, USA
Neurobiol Aging 27:1359-71. 2006..Functional validation studies are underway to determine which candidate genes may be causally related to NFT neuropathology, thus providing therapeutic targets for the treatment of AD... - Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2Kevin A Strauss
Clinic for Special Children, Strasburg, PA 17579, USA
N Engl J Med 354:1370-7. 2006..Resective surgery did not prevent the recurrence of seizures. Temporal-lobe specimens showed evidence of abnormalities of neuronal migration and structure, widespread astrogliosis, and reduced expression of CASPR2... - High-density single nucleotide polymorphism screen in a large multiplex neural tube defect family refines linkage to loci at 7p21.1-pter and 2q33.1-q35Demetra S Stamm
Center for Human Genetics, Duke University Medical Center, Durham, North Carolina 27710, USA
Birth Defects Res A Clin Mol Teratol 76:499-505. 2006..This single family may be promising for narrowing the search for NTD susceptibility genes... - The nuts and bolts of gene array technology and its application to drug abuse researchDavid Shurtleff
Drug Alcohol Depend 91:102-6. 2007 - Sorl1 as an Alzheimer's disease predisposition gene?Jennifer A Webster
Neurogenomics Division, Translational Genomics Research Institute, Phoenix, Ariz, USA
Neurodegener Dis 5:60-4. 2008..Here we present the results of our large case-control whole-genome scan at over 500,000 polymorphisms which presents weak evidence for association and potentially narrows the association interval... - Genome-wide homozygosity mapping localizes a gene for autosomal recessive non-progressive infantile ataxia to 20q11-q13Lisbeth Tranebjaerg
Department of Audiology, Bispebjerg Hospital, Bispebjerg Bakke 23, DK 2400, Copenhagen NV, Denmark
Hum Genet 113:293-5. 2003..Here, we report homozygosity mapping of a novel locus to a 19.5-cM region on chromosome 20q11-q13 in a large inbred Norwegian family with infantile non-progressive ataxia... - Correlation of expression of BP1, a homeobox gene, with estrogen receptor status in breast cancerSidney W Fu
Department of Biochemistry and Molecular Biology, The George Washington University Medical Center, Washington, DC, USA
Breast Cancer Res 5:R82-7. 2003..The frequent expression of BP1 in all tumor grades suggests that activation of BP1 is an early event... - Dissection of the sets of genes that control the behavior of biglycan-deficient pre-osteoblasts using oligonucleotide microarraysXiao Dong Chen
Craniofacial and Skeletal Diseases Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD 20892, USA
Bone 37:192-203. 2005..This study provides a broad and deep foundation for understanding SLRP function at a more complex level... - Physical and transcript map of the hereditary prostate cancer region at xq27Dietrich A Stephan
Cancer Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
Genomics 79:41-50. 2002..These transcriptional units represent candidate genes for HPCX and multiple other hereditary diseases at Xq26.3-q27.3... - An expression signature classifies chemotherapy-resistant pediatric osteosarcomaMichelle B Mintz
Neurogenomics Division and Genetic Basis of Human Disease Division, Translational Genomics Research Institute, Phoenix, Arizona 85004, USA
Cancer Res 65:1748-54. 2005..We propose that osteosarcoma tumor-driven changes in the bone microenvironment contribute to the chemotherapy-resistant phenotype and offer testable hypotheses to potentially enhance therapeutic response... - Microarray and protein analysis of human pterygiumMolykutty John-Aryankalayil
National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA
Mol Vis 12:55-64. 2006..In order to identify specific genes that may play a role in pterygium pathogenesis, we analyzed the global gene expression profile of pterygium in relation to autologous conjunctiva...
Research Grants
- Microarray Center for Research on the Nervous SystemDietrich Stephan; Fiscal Year: 2007....
- Neurogenomics of Alzheimer's Disease and AgingTravis Dunckley; Fiscal Year: 2007..In all, the partnership of leaders in the AD field, the national resources within the ADCs, and the genomics expertise at TGen should allow rapid progress in understanding the etiology of AD dementia. ..
- Design and Analysis of Multi-Staged Association Studies Using Pooled Genomic DNADietrich Stephan; Fiscal Year: 2007....
- Microarray Center for Research on the Nervous SystemDietrich Stephan; Fiscal Year: 2004..abstract_text> ..
- Improved Diagnosis in ALLDietrich Stephan; Fiscal Year: 2002..The future goal of this proposal is to prospectively diagnose relapse so that therapy can be intensified at the time of presentation...