Sumegi Lab

Janos Sumegi, MD, PhD

Title

Professor of Pediatric Hematology / Oncology

Appointment

Professor of Pediatrics

Email

janos.sumegi@cchmc.org

Phone

513-636-5976

Fax

513-636-3549

Credentials

MD: University Medical School of Debrecen, Hungary, 1968

PhD: Research Center of the Hungarian Academy of Science, Budapest, Hungary, 1974

Docent (DMSc): Karolinska Institute Stockhom, Sweden, 1982

Awards and Honors

Yamagiva-Yoshida Award in Cancer Genetics for studies on the retinoblastoma (Rb) gene, 1989
Balthazar von Platten Award for Studies in Molecular Genetics of Lymphomas, 1984
Award from EMBO, Senior Research Fellowship in Molecular Biology, 1980-1982
Award from the Hungarian Academy of Science for studies in Molecular Biology in Hungary, 1976

Research Grants and Contracts

Genetics of Usher Syndrome PO1 DC01813-07 Program Project Director: Dr W. Kimberling
Dr. Janos Sumegi Principal Investigator on Subproject II. 2000-2005

Publications, Most Recent

Connect to Janos Sumegi's publications on PubMed

Antonino Trizzino, Gritta Janka, Ikuyo Ueda, Kimberly Risma, Jan-Inge Henter, Udo Zur Stadt, Eiichi Ishii. Karen Beutel, Janos Sumegi, Sonia Cannella Alessandra Santoro1, Alexandra Filipovich, Maurizio Aricò1for the Histiocyte Society HLH Study group. Genotype-Phenotype Study Of Familial Hemophagocytic Lymphohistiocytosis Due To Perforin Mutations Blood.(in press).

Sumegi J, Johnson J, Filipovich A, Zhang K (updated 2007) Lymphoproliferative Disease, X-Linked in: GeneReviews at GeneTests: Medical Genetics Information Resource [database online]. Copyright, University of Washington, Seattle. 1997-2007. Available at http://www.genetests.org.

Melinda Erdos, Krisztina Alapi, István Balogh, György Oroszlán, Éva Rákóczi, János Sümegi and László Maródi Severe Shwachman-Diamond Syndrome Phenotype Caused by Compound Heterozygous Missense Mutations in the SBDS Gene Exp Hematol. 2006 Nov;34(11):1517-21.

Molleran Lee S, Villanueva J, A. Filipovich and J. Sumegi Patients of African ancestry with Hemophagocytic Lymphohistiocytosis share a common haplotype of PRF1 with a 50delT mutationThe Journal of Pediatrics . 2006 Jul;149(1):134-7.

Melinda Erdös, Éva Uzvölgyi, Zoltán Nemes, Olga Török, Éva Rákóczi, Nils Went-Sümegi, János Sümegi, and László Maródi1. Characterization of a New Disease-Causing Mutation in a Family with X-linked Lymphoproliferative Disease.Hum Mutat. 2005 May;25(5):506.

Tabata Y, Villanueva J, Molleran Lee S, Zhang K, Kanegane H, Miyawaki T, Sumegi J, Filipovich AH. Rapid detection of intracellular SH2D1A protein in cytotoxic lymphocytes from patients with X-linked lymphoproliferative disease and their family members.Blood. 2005 Apr 15;105(8):3066-71.

Simarro M, Lanyi A, Howie D, Poy F, Bruggeman J, Choi M, Sumegi J, Eck MJ, Terhorst C. SAP increases FynT kinase activity and is required for phosphorylation of SLAM and Ly9. Int Immunol. 2004 May;16(5):727-36.

Molleran Lee S, Villanueva J, Sumegi J, Zhang K, Kogawa K, Davis J, Filipovich AH. Characterisation of diverse PRF1 mutations leading to decreased natural killer cell activity in North American families with haemophagocytic lymphohistiocytosis.J Med Genet. 2004 Feb;41(2):137-144.

Yin L, Al-Alem U, Liang J, Tong WM, Li C, Badiali M, Medard JJ, Sumegi J, Wang ZQ, Romeo G. Mice deficient in the X-linked lymphoproliferative disease gene sap exhibit increased susceptibility to murine gammaherpesvirus-68 and hypo-gammaglobulinemia.J Med Virol. 2003 Nov;71(3):446-55.

Ma Z, Hill DA, Collins MH, Morris S, Sumegi J, Zhou M, Zuppan C, Bridge JA (2003) Fusion of ALK to the Ran-binding protein 2 (RANBP2) gene in inflammatory myofibroblastic tumor.Genes Chromosomes Cancer 37(1):98-105.

Beiraghi S, Zhou M, Talmadge CB, Went-Sumegi N, Davis JR, Huang D, Saal H, Seemayer TA, Sumegi J. (2003) Identification and characterization of a novel gene disrupted by a pericentric inversion inv(4)(p13.1q21.1) in a family with cleft lip. Gene. Apr 24;309(1):11-21

Chan B, Lanyi A, Song HK, Griesbach J, Simarro-Grande M, Poy F, Howie D, Sumegi J, Terhorst C, Eck MJ. SAP couples Fyn to SLAM immune receptors. Nat Cell Biol. 2003 Feb;5(2):155-160.

Kogawa K, Lee SM, Villanueva J, Marmer D, Sumegi J, Filipovich AH. Perforin expression in cytotoxic lymphocytes from patients with hemophagocytic lymphohistiocytosis and their family members.Blood. 2002 Jan 1;99(1):61-6.

Huang D, Eudy J, Uzvolgyi E, Davis J, Talmadge C, Pretto D, Weston M, Lehman J, Zhou M, Seemayer T, Ahmad I, Kimberling W, Sumegi J. Identification of the Mouse and Rat Orthologs of the Gene Mutated in Usher Syndrome Type IIA and the Cellular Source of USH2A mRNA in Retina, a Target Tissue of the Disease.Genomics. 2002 80(2):195.

Fields RR, Zhou G, Huang D, Davis JR, Moller C, Jacobson SG, Kimberling WJ, Sumegi J. Usher syndrome type III: revised genomic structure of the USH3 gene and identification of novel mutations.Am J Hum Genet. 2002 Sep;71(3):607-17.

Sumegi J. Seemayer TA. Huang D. Davis RJ. Morra M. Gross TG. Yin L, Romeo G. Klein E. Terhorst C. and Lanyi A. A spectrum of Mutations in SH2D1A that causes X-linked Lymphoproliferative disease and other Epstein-Barr Virus-associated Illnesses.Leukemia and Lymphoma 2002, 43(6):1189-201.