J Sumegi

Summary

Affiliation: University of Nebraska Medical Center
Country: USA

Publications

  1. ncbi request reprint The genomic structure of the gene defective in Usher syndrome type Ib (MYO7A)
    P M Kelley
    Center for Hereditary Communication Disorders, Boys Town National Research Hospital, Omaha, Nebraska 68131, USA
    Genomics 40:73-9. 1997
  2. pmc Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa
    M D Weston
    Department of Genetics, Boys Town National Research Hospital, Omaha, NE, USA
    Am J Hum Genet 66:1199-210. 2000
  3. pmc Usher syndrome type III: revised genomic structure of the USH3 gene and identification of novel mutations
    Randall R Fields
    Center for the Study and Treatment of Usher Syndrome, Boys Town National Research Hospital Omaha, NE, 68131, USA
    Am J Hum Genet 71:607-17. 2002
  4. ncbi request reprint SAP couples Fyn to SLAM immune receptors
    Betty Chan
    Department of Cancer Biology, Dana Farber Cancer Institute, 44 Binney Street, Boston, MA 02115, USA
    Nat Cell Biol 5:155-60. 2003
  5. ncbi request reprint A spectrum of mutations in SH2D1A that causes X-linked lymphoproliferative disease and other Epstein-Barr virus-associated illnesses
    Janos Sumegi
    Center of Human Genetics, University of Nebraska Medical Center, Omaha 68198 5454, USA
    Leuk Lymphoma 43:1189-201. 2002
  6. ncbi request reprint Correlation of mutations of the SH2D1A gene and epstein-barr virus infection with clinical phenotype and outcome in X-linked lymphoproliferative disease
    J Sumegi
    Department of Pathology and Microbiology, Center for Human Molecular Genetics, Eppley Institute for Research in Cancer and Allied Diseases, Omaha, Nebraska, USA
    Blood 96:3118-25. 2000
  7. ncbi request reprint Isolation of a gene encoding a novel member of the nuclear receptor superfamily from the critical region of Usher syndrome type IIa at 1q41
    J D Eudy
    Department of Pathology and Microbiology, University of Nebraska Medical Center, Omaha 68198, USA
    Genomics 50:382-4. 1998
  8. ncbi request reprint Narrowing the genetic interval and yeast artificial chromosome map in the branchio-oto-renal region on chromosome 8q
    S Kumar
    Department of Genetics, Boys Town National Research Hospital, Omaha, Nebraska 68131, USA
    Genomics 31:71-9. 1996
  9. ncbi request reprint Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa
    J D Eudy
    Department of Pathology and Microbiology, University of Nebraska Medical Center, Omaha, NE 68198, USA
    Science 280:1753-7. 1998
  10. ncbi request reprint Isolation of a novel human homologue of the gene coding for echinoderm microtubule-associated protein (EMAP) from the Usher syndrome type 1a locus at 14q32
    J D Eudy
    Department of Pathology and Microbiology, University of Nebraska Medical Center, Omaha 68198, USA
    Genomics 43:104-6. 1997

Collaborators

Detail Information

Publications19

  1. ncbi request reprint The genomic structure of the gene defective in Usher syndrome type Ib (MYO7A)
    P M Kelley
    Center for Hereditary Communication Disorders, Boys Town National Research Hospital, Omaha, Nebraska 68131, USA
    Genomics 40:73-9. 1997
    ..Alternatively spliced products were transcribed from the MYO7A gene: the largest transcript (7.4 kb) contains 49 exons. The MYO7A gene is relatively large, spanning approximately 120 kb of genomic DNA on chromosome 11q13...
  2. pmc Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa
    M D Weston
    Department of Genetics, Boys Town National Research Hospital, Omaha, NE, USA
    Am J Hum Genet 66:1199-210. 2000
    ..The possible significance of this domain, known to be necessary for laminin network assembly, is discussed in the context of domain VI mutations from other proteins...
  3. pmc Usher syndrome type III: revised genomic structure of the USH3 gene and identification of novel mutations
    Randall R Fields
    Center for the Study and Treatment of Usher Syndrome, Boys Town National Research Hospital Omaha, NE, 68131, USA
    Am J Hum Genet 71:607-17. 2002
    ..We have also identified mouse (chromosome 3) and rat (chromosome 2) orthologues, as well as two human paralogues on chromosomes 4 and 10...
  4. ncbi request reprint SAP couples Fyn to SLAM immune receptors
    Betty Chan
    Department of Cancer Biology, Dana Farber Cancer Institute, 44 Binney Street, Boston, MA 02115, USA
    Nat Cell Biol 5:155-60. 2003
    ..These findings broaden our understanding of the functional repertoire of SH3 and SH2 domains...
  5. ncbi request reprint A spectrum of mutations in SH2D1A that causes X-linked lymphoproliferative disease and other Epstein-Barr virus-associated illnesses
    Janos Sumegi
    Center of Human Genetics, University of Nebraska Medical Center, Omaha 68198 5454, USA
    Leuk Lymphoma 43:1189-201. 2002
    ..In due course, the manner by which this gene orchestrates an elegant response (akin to a Mozart divertimento) to EBV infection shall be defined...
  6. ncbi request reprint Correlation of mutations of the SH2D1A gene and epstein-barr virus infection with clinical phenotype and outcome in X-linked lymphoproliferative disease
    J Sumegi
    Department of Pathology and Microbiology, Center for Human Molecular Genetics, Eppley Institute for Research in Cancer and Allied Diseases, Omaha, Nebraska, USA
    Blood 96:3118-25. 2000
    ..These results suggest that unidentified factors, either environmental or genetic (eg, modifier genes), contribute to the pathogenesis of XLP...
  7. ncbi request reprint Isolation of a gene encoding a novel member of the nuclear receptor superfamily from the critical region of Usher syndrome type IIa at 1q41
    J D Eudy
    Department of Pathology and Microbiology, University of Nebraska Medical Center, Omaha 68198, USA
    Genomics 50:382-4. 1998
  8. ncbi request reprint Narrowing the genetic interval and yeast artificial chromosome map in the branchio-oto-renal region on chromosome 8q
    S Kumar
    Department of Genetics, Boys Town National Research Hospital, Omaha, Nebraska 68131, USA
    Genomics 31:71-9. 1996
    ..This lays the groundwork for the construction of a transcriptional map of this region and the eventual identification of genes involved in BOR syndrome...
  9. ncbi request reprint Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa
    J D Eudy
    Department of Pathology and Microbiology, University of Nebraska Medical Center, Omaha, NE 68198, USA
    Science 280:1753-7. 1998
    ....
  10. ncbi request reprint Isolation of a novel human homologue of the gene coding for echinoderm microtubule-associated protein (EMAP) from the Usher syndrome type 1a locus at 14q32
    J D Eudy
    Department of Pathology and Microbiology, University of Nebraska Medical Center, Omaha 68198, USA
    Genomics 43:104-6. 1997
    ..The human homologue of Echinoderm microtubule-associated protein defines a novel human gene. We propose that the human EMAP is a strong candidate for the USH1a gene based on its genomic location and the proposed function of the protein...
  11. ncbi request reprint Chromosomal mapping of three human LAMMER protein-kinase-encoding genes
    C B Talmadge
    Department of Pathology and Microbiology, University of Nebraska Medical Center, Omaha 68198 4525, USA
    Hum Genet 103:523-4. 1998
    ..We have mapped these loci to 2q33, 1q21, and 15q24, respectively, by fluorescent in situ hybridization. Additionally, a CLK2 pseudo-gene has been located to 7p15-21...
  12. pmc Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients
    M D Weston
    Department of Genetics, Boys Town National Research Hospital, University of Nebraska Medical Center, Omaha, USA
    Am J Hum Genet 59:1074-83. 1996
    ..These results add three patients to single case reported previously where mutations have been found in both alleles and raises the total number of unique mutations in MYO7A to 16...
  13. ncbi request reprint Rapid detection of intracellular SH2D1A protein in cytotoxic lymphocytes from patients with X-linked lymphoproliferative disease and their family members
    Yasuhiro Tabata
    Division of Hematology Oncology and Division of Human Genetics, Children s Hospital Medical Center, MLC 7015, Cincinnati, OH 45229 3039, USA
    Blood 105:3066-71. 2005
    ..Four-color flow cytometry provides diagnostic information that may speed the identification of this fatal disease, differentiating it from other causes of EBV-HLH...
  14. ncbi request reprint SAP increases FynT kinase activity and is required for phosphorylation of SLAM and Ly9
    Maria Simarro
    Division of Immunology, Beth Israel Deaconess Medical Center, Boston, MA 02115, USA
    Int Immunol 16:727-36. 2004
    ..Our results demonstrate that SAP is an adaptor that bridges SLAM and Ly9 with Src-like protein tyrosine kinases (PTKs), and has the ability to activate FynT...
  15. ncbi request reprint Mice deficient in the X-linked lymphoproliferative disease gene sap exhibit increased susceptibility to murine gammaherpesvirus-68 and hypo-gammaglobulinemia
    Luo Yin
    Unit of Genetic Cancer Susceptibility, International Agency for Research on Cancer, 150 cours Albert Thomas, 69372 Lyon Cedex 08, France
    J Med Virol 71:446-55. 2003
    ..This mouse model will therefore be a useful tool for dissecting the various phenotypes of X-linked lymphoproliferative disease...
  16. ncbi request reprint Identification and characterization of a novel gene disrupted by a pericentric inversion inv(4)(p13.1q21.1) in a family with cleft lip
    Soraya Beiraghi
    Division of Pediatric Dentistry, University of Minnesota, 6 150 Moos Tower, 515 Delaware Street SE, Minneapolis, MN 55455, USA
    Gene 309:11-21. 2003
    ..5 kDa. The protein is highly similar to acyl-CoA desaturases from Drosophila melanogaster to Homo sapiens. The catalytically essential histidine clusters and the potential transmembrane domains are well conserved...
  17. ncbi request reprint 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
    Dali Huang
    Department of Pathology and Microbiology, Omaha, Nebraska 68198, USA
    Genomics 80:195-203. 2002
    ..In the developing rat retina, Ush2a mRNA expression appears in the neuroepithelium at embryonic day 17...
  18. ncbi request reprint Perforin expression in cytotoxic lymphocytes from patients with hemophagocytic lymphohistiocytosis and their family members
    Kazuhiro Kogawa
    Division of Hematology Oncology, Children s Hospital Medical Center, Cincinnati, OH 45229 3039, USA
    Blood 99:61-6. 2002
    ....
  19. pmc Aberrant maturation of mutant perforin underlies the clinical diversity of hemophagocytic lymphohistiocytosis
    Kimberly A Risma
    Division of Allergy Immunology and Division of Hematology Oncology, Cincinnati Children s Hospital Medical Center, Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio 45229, USA
    J Clin Invest 116:182-92. 2006
    ..Thus, the pathologic mechanism of perforin missense mutation likely involves a protein dosage effect of the mature protein...