Stephan M Tanner

Summary

Affiliation: The Ohio State University
Country: USA

Publications

  1. pmc Ancient founder mutation is responsible for Imerslund-Gräsbeck Syndrome among diverse ethnicities
    Cameron M Beech
    Comprehensive Cancer Center, The Ohio State University, Columbus, OH 43210, USA
    Orphanet J Rare Dis 6:74. 2011
  2. pmc Inherited cobalamin malabsorption. Mutations in three genes reveal functional and ethnic patterns
    Stephan M Tanner
    Human Cancer Genetics, Comprehensive Cancer Center, The Ohio State University, Columbus, OH 43210, USA
    Orphanet J Rare Dis 7:56. 2012
  3. pmc Allele-specific expression of TGFBR1 in colon cancer patients
    Jerneja Tomsic
    Human Cancer Genetics Program, Comprehensive Cancer Center, The Ohio State University, Columbus, OH 43210, USA
    Carcinogenesis 31:1800-4. 2010
  4. pmc miR-3151 interplays with its host gene BAALC and independently affects outcome of patients with cytogenetically normal acute myeloid leukemia
    Ann Kathrin Eisfeld
    The Ohio State University Comprehensive Cancer Center, 300 West 10th Ave, Columbus, OH 43210, USA
    Blood 120:249-58. 2012
  5. ncbi request reprint Genetically heterogeneous selective intestinal malabsorption of vitamin B12: founder effects, consanguinity, and high clinical awareness explain aggregations in Scandinavia and the Middle East
    Stephan M Tanner
    Human Cancer Genetics Program, Comprehensive Cancer Center, The Ohio State University, Columbus, Ohio 43210, USA
    Hum Mutat 23:327-33. 2004
  6. ncbi request reprint Molecular profiling of chronic lymphocytic leukaemia: genetics meets epigenetics to identify predisposing genes
    Christoph 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
  7. pmc Hereditary juvenile cobalamin deficiency caused by mutations in the intrinsic factor gene
    Stephan 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
  8. doi request reprint Familial peripheral keratopathy without PAX6 mutation
    Wendy M Smith
    Havener Eye Institute, Department of Ophthalmology, The Ohio State University, Columbus, OH 43212, USA
    Cornea 31:130-3. 2012
  9. pmc Heritable polymorphism predisposes to high BAALC expression in acute myeloid leukemia
    Ann Kathrin Eisfeld
    The Ohio State University Comprehensive Cancer Center, Columbus, OH 43210, USA
    Proc Natl Acad Sci U S A 109:6668-73. 2012
  10. ncbi request reprint Molecular cytogenetic characterization of the KG-1 and KG-1a acute myeloid leukemia cell lines by use of spectral karyotyping and fluorescence in situ hybridization
    Krzysztof 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

Collaborators

Detail Information

Publications22

  1. pmc Ancient founder mutation is responsible for Imerslund-Gräsbeck Syndrome among diverse ethnicities
    Cameron 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...
  2. pmc Inherited cobalamin malabsorption. Mutations in three genes reveal functional and ethnic patterns
    Stephan 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...
  3. pmc Allele-specific expression of TGFBR1 in colon cancer patients
    Jerneja 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...
  4. pmc miR-3151 interplays with its host gene BAALC and independently affects outcome of patients with cytogenetically normal acute myeloid leukemia
    Ann 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...
  5. ncbi request reprint Genetically heterogeneous selective intestinal malabsorption of vitamin B12: founder effects, consanguinity, and high clinical awareness explain aggregations in Scandinavia and the Middle East
    Stephan 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...
  6. ncbi request reprint Molecular profiling of chronic lymphocytic leukaemia: genetics meets epigenetics to identify predisposing genes
    Christoph 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...
  7. pmc Hereditary juvenile cobalamin deficiency caused by mutations in the intrinsic factor gene
    Stephan 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...
  8. doi request reprint Familial peripheral keratopathy without PAX6 mutation
    Wendy 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...
  9. pmc Heritable polymorphism predisposes to high BAALC expression in acute myeloid leukemia
    Ann 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...
  10. ncbi request reprint Molecular cytogenetic characterization of the KG-1 and KG-1a acute myeloid leukemia cell lines by use of spectral karyotyping and fluorescence in situ hybridization
    Krzysztof 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
    ....
  11. pmc Acute myeloid leukemia with complex karyotypes and abnormal chromosome 21: Amplification discloses overexpression of APP, ETS2, and ERG genes
    Claudia 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...
  12. ncbi request reprint Differential gene expression in patients genetically predisposed to pancreatic cancer
    Emmanuel 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...
  13. pmc Hereditary intrinsic factor deficiency in chaldeans
    Amy C Sturm
    Human Cancer Genetics Program, Comprehensive Cancer Center, The Ohio State University, BRT 804, 460W 12th AVE, Columbus, OH, 43210, USA
    JIMD Rep 7:13-8. 2013
    ..As a result, self-identified ancestry as a stratifying characteristic should perhaps be considered in diagnostic strategies for rare genetic disorders...
  14. pmc Germline allele-specific expression of TGFBR1 confers an increased risk of colorectal cancer
    Laura 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...
  15. pmc RelA/p65 functions to maintain cellular senescence by regulating genomic stability and DNA repair
    Jingxin 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...
  16. ncbi request reprint Baalc, a marker of mesoderm and muscle
    Anjali 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...
  17. ncbi request reprint Downregulation of death-associated protein kinase 1 (DAPK1) in chronic lymphocytic leukemia
    Aparna 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...
  18. ncbi request reprint BAALC, a novel marker of human hematopoietic progenitor cells
    Claudia D Baldus
    Human Cancer Genetics Program, Comprehensive Cancer Center, The Ohio State University, Columbus, Ohio 43210, USA
    Exp Hematol 31:1051-6. 2003
    ..The role of BAALC in hematopoiesis and leukemogenesis is unknown...
  19. ncbi request reprint Amnionless, essential for mouse gastrulation, is mutated in recessive hereditary megaloblastic anemia
    Stephan 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...
  20. pmc Juvenile cobalamin deficiency in a 17-year-old child with autonomic dysfunction and skin changes
    Abdul 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...
  21. ncbi request reprint BAALC expression predicts clinical outcome of de novo acute myeloid leukemia patients with normal cytogenetics: a Cancer and Leukemia Group B Study
    Claudia 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...
  22. doi request reprint Direct evidence for epithelial-mesenchymal transitions in breast cancer
    ANTHONY 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...