Research Topics
Genomes and Genes | Stephan M TannerSummaryAffiliation: The Ohio State University Country: USA Publications
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Publications
Ancient founder mutation is responsible for Imerslund-Gräsbeck Syndrome among diverse ethnicitiesCameron M Beech
Comprehensive Cancer Center, The Ohio State University, Columbus, OH 43210, USA
Orphanet J Rare Dis 6:74. 2011..We present evidence that this founder mutation causes a substantial percentage of cases among diverse ethnicities and that the mutation is as old as human civilization...- Allele-specific expression of TGFBR1 in colon cancer patientsJerneja Tomsic
Human Cancer Genetics Program, Comprehensive Cancer Center, The Ohio State University, Columbus, OH 43210, USA
Carcinogenesis 31:1800-4. 2010..More advanced technology is expected to resolve this issue as well as the low informativity caused by the limited heterozygosity of transcribed SNPs... - miR-3151 interplays with its host gene BAALC and independently affects outcome of patients with cytogenetically normal acute myeloid leukemiaAnn Kathrin Eisfeld
The Ohio State University Comprehensive Cancer Center, 300 West 10th Ave, Columbus, OH 43210, USA
Blood 120:249-58. 2012..The combination of both markers identified a patient subset with the poorest outcome. This interplay between an intronic miR and its host may have important biologic implications... - Acute myeloid leukemia with complex karyotypes and abnormal chromosome 21: Amplification discloses overexpression of APP, ETS2, and ERG genesClaudia D Baldus
Human Cancer Genetics Program, Ohio State University Comprehensive Cancer Center, Columbus, OH 43210, USA
Proc Natl Acad Sci U S A 101:3915-20. 2004..Our results highlight the value of molecularly dissecting leukemic cells with complex karyotypes... 
Genetically heterogeneous selective intestinal malabsorption of vitamin B12: founder effects, consanguinity, and high clinical awareness explain aggregations in Scandinavia and the Middle EastStephan M Tanner
Human Cancer Genetics Program, Comprehensive Cancer Center, The Ohio State University, Columbus, Ohio 43210, USA
Hum Mutat 23:327-33. 2004..We suggest that in both regions, physician awareness of this disease causes it to be more readily diagnosed than elsewhere; thus, it may well be more common worldwide than previously thought...- Hereditary juvenile cobalamin deficiency caused by mutations in the intrinsic factor geneStephan M Tanner
Human Cancer Genetics Program, Comprehensive Cancer Center, Ohio State University, Columbus, OH 43210, USA
Proc Natl Acad Sci U S A 102:4130-3. 2005..In the diagnosis of juvenile cobalamin deficiency, mutational analysis of the CUBN, AMN, and GIF genes provides a molecular characterization of the underlying defect and may be the diagnostic method of choice... - Molecular profiling of chronic lymphocytic leukaemia: genetics meets epigenetics to identify predisposing genesChristoph Plass
Department of Molecular Virology, Immunology, and Medical Genetics, Human Cancer Genetics Program, The Comprehensive Cancer Center at The Ohio State University, Columbus, OH, USA
Br J Haematol 139:744-52. 2007..We will describe our current understanding of genetic alterations in CLL, the use of familial CLL for the identification of predisposing mutations, and the search for epigenetic alterations in CLL... - Heritable polymorphism predisposes to high BAALC expression in acute myeloid leukemiaAnn Kathrin Eisfeld
The Ohio State University Comprehensive Cancer Center, Columbus, OH 43210, USA
Proc Natl Acad Sci U S A 109:6668-73. 2012..Our findings further suggest that genomic variants might become useful tools in the practice of personalized medicine... 
Familial peripheral keratopathy without PAX6 mutationWendy M Smith
Havener Eye Institute, Department of Ophthalmology, The Ohio State University, Columbus, OH 43212, USA
Cornea 31:130-3. 2012..To describe the clinical features of a familial abnormality of the corneal stem cells and to investigate the role of PAX6 mutations in the affected family members...- Differential gene expression in patients genetically predisposed to pancreatic cancerEmmanuel E Zervos
Arthur G James Cancer Hospital and Richard J Solove Research Institute, The Ohio State University, Columbus, Ohio, USA
J Surg Res 135:317-22. 2006..The purpose of this study was to identify novel genes expressed in patients with a presumed genetic predisposition or "familial" PCA... - BAALC, a novel marker of human hematopoietic progenitor cellsClaudia D Baldus
Human Cancer Genetics Program, Comprehensive Cancer Center, The Ohio State University, Columbus, Ohio 43210, USA
Exp Hematol 31:1051-6. 2003..We postulate that BAALC represents a novel marker of an early progenitor cell common to the myeloid, lymphoid, and erythroid pathways... - Molecular cytogenetic characterization of the KG-1 and KG-1a acute myeloid leukemia cell lines by use of spectral karyotyping and fluorescence in situ hybridizationKrzysztof Mrozek
Division of Hematology and Oncology, and the Comprehensive Cancer Center, The Ohio State University, Columbus, Ohio, USA
Genes Chromosomes Cancer 38:249-52. 2003.... - Inherited cobalamin malabsorption. Mutations in three genes reveal functional and ethnic patternsStephan M Tanner
Human Cancer Genetics, Comprehensive Cancer Center, The Ohio State University, Columbus, OH 43210, USA
Orphanet J Rare Dis 7:56. 2012..IGS and IFD differ in that IGS usually presents with proteinuria, which is not observed in IFD. The genetic heterogeneity and numerous differential diagnoses make clinical assessment difficult... - Germline allele-specific expression of TGFBR1 confers an increased risk of colorectal cancerLaura Valle
Human Cancer Genetics Program, Comprehensive Cancer Center, Ohio State University, Columbus, OH 43210, USA
Science 321:1361-5. 2008..Conservative estimates suggest that ASE confers a substantially increased risk of CRC (odds ratio, 8.7; 95% confidence interval, 2.6 to 29.1), but these estimates require confirmation and will probably show ethnic differences... - RelA/p65 functions to maintain cellular senescence by regulating genomic stability and DNA repairJingxin Wang
Human Cancer Genetics Program, The Ohio State University, Columbus, Ohio 43210, USA
EMBO Rep 10:1272-8. 2009..Altogether, our findings present a fresh perspective on the role of NF-kappaB as a tumour suppressor, which acts in pre-neoplastic cells to maintain cellular senescence by promoting DNA repair and genomic stability... - Downregulation of death-associated protein kinase 1 (DAPK1) in chronic lymphocytic leukemiaAparna Raval
Department of Molecular Virology, Immunology, and Medical Genetics, Human Cancer Genetics Program, The Comprehensive Cancer Center at The Ohio State University, Columbus, OH 43214, USA
Cell 129:879-90. 2007..Thus, reduced expression of DAPK1 can result from germline predisposition, as well as epigenetic or somatic events causing or contributing to the CLL phenotype... - Baalc, a marker of mesoderm and muscleAnjali A Satoskar
Human Cancer Genetics Program, Comprehensive Cancer Center, The Ohio State University, 420 West 12th Avenue, TMRF 646, Columbus, OH 43210, USA
Gene Expr Patterns 5:463-73. 2005..Scattered expression in adult bone marrow hematopoietic cells and weak expression in the brain neuropil also occurred. In conclusion, BAALC/Baalc is a marker of the mesodermal lineage, especially muscle... - Amnionless, essential for mouse gastrulation, is mutated in recessive hereditary megaloblastic anemiaStephan M Tanner
Human Cancer Genetics Program, Comprehensive Cancer Center, The Ohio State University, Columbus, Ohio 43210, USA
Nat Genet 33:426-9. 2003..When the 5' end of AMN is truncated by mutations, translation is initiated from alternative downstream start codons... - Juvenile cobalamin deficiency in a 17-year-old child with autonomic dysfunction and skin changesAbdul Hafeez Siddiqui
Department of Pediatrics, University of South Alabama College of Medicine, Mobile, AL, USA
J Pediatr Hematol Oncol 34:140-2. 2012..The expected macrocytosis was masked by an underlying alpha-thalassemia trait. The patient had an excellent response to parenteral cobalamin treatment... - Direct evidence for epithelial-mesenchymal transitions in breast cancerANTHONY J TRIMBOLI
Department of Molecular Genetics, College of Medicine, The Ohio State University, Columbus, OH 43210, USA
Cancer Res 68:937-45. 2008..These data provide the first direct evidence for EMT in breast cancer and suggest that its development is favored by myc-initiated events... - BAALC expression predicts clinical outcome of de novo acute myeloid leukemia patients with normal cytogenetics: a Cancer and Leukemia Group B StudyClaudia D Baldus
The Ohio State University, Starling-Loving Hall, 320 West 10th Ave, Columbus, OH 43210, USA
Blood 102:1613-8. 2003..7, 2.6, and 2.2. We conclude that high BAALC expression predicts an adverse prognosis and may define an important risk factor in AML with normal cytogenetics...