Research Topics
Genomes and Genes | J SumegiSummaryAffiliation: University of Nebraska Medical Center Country: USA Publications
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Detail Information
Publications
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...
Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIaM 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...- Usher syndrome type III: revised genomic structure of the USH3 gene and identification of novel mutationsRandall 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... - SAP couples Fyn to SLAM immune receptorsBetty 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... - A spectrum of mutations in SH2D1A that causes X-linked lymphoproliferative disease and other Epstein-Barr virus-associated illnessesJanos 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... - Correlation of mutations of the SH2D1A gene and epstein-barr virus infection with clinical phenotype and outcome in X-linked lymphoproliferative diseaseJ 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... - Isolation of a gene encoding a novel member of the nuclear receptor superfamily from the critical region of Usher syndrome type IIa at 1q41J D Eudy
Department of Pathology and Microbiology, University of Nebraska Medical Center, Omaha 68198, USA
Genomics 50:382-4. 1998 - Narrowing the genetic interval and yeast artificial chromosome map in the branchio-oto-renal region on chromosome 8qS 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... - Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIaJ D Eudy
Department of Pathology and Microbiology, University of Nebraska Medical Center, Omaha, NE 68198, USA
Science 280:1753-7. 1998.... - Isolation of a novel human homologue of the gene coding for echinoderm microtubule-associated protein (EMAP) from the Usher syndrome type 1a locus at 14q32J 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... - Chromosomal mapping of three human LAMMER protein-kinase-encoding genesC 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... - Myosin VIIA mutation screening in 189 Usher syndrome type 1 patientsM 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... - Rapid detection of intracellular SH2D1A protein in cytotoxic lymphocytes from patients with X-linked lymphoproliferative disease and their family membersYasuhiro 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... - SAP increases FynT kinase activity and is required for phosphorylation of SLAM and Ly9Maria 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... - Mice deficient in the X-linked lymphoproliferative disease gene sap exhibit increased susceptibility to murine gammaherpesvirus-68 and hypo-gammaglobulinemiaLuo 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... - Identification and characterization of a novel gene disrupted by a pericentric inversion inv(4)(p13.1q21.1) in a family with cleft lipSoraya 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... - 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 diseaseDali 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... - Perforin expression in cytotoxic lymphocytes from patients with hemophagocytic lymphohistiocytosis and their family membersKazuhiro Kogawa
Division of Hematology/Oncology, Children's Hospital Medical Center, Cincinnati, OH 45229-3039, USA
Blood 99:61-6. 2002.... - Aberrant maturation of mutant perforin underlies the clinical diversity of hemophagocytic lymphohistiocytosisKimberly 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...