1 - 25 of 37 results for author:"Sumegi J." in Literature citations
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| A novel t(4;22)(q31;q12) produces an EWSR1-SMARCA5 fusion in extraskeletal Ewing sarcoma/primitive neuroectodermal tumor. Sumegi J., Nishio J., Nelson M., Frayer R.W., Perry D., Bridge J.A. Mod. Pathol. 24:333-342(2011) · Mapped (14) |
| C11orf95-MKL2 is the resulting fusion oncogene of t(11;16)(q13;p13) in chondroid lipoma. Huang D., Sumegi J., Dal Cin P., Reith J.D., Yasuda T., Nelson M., Muirhead D., Bridge J.A. Genes Chromosomes Cancer 49:810-818(2010) · Mapped (7) |
| Recurrent t(2;2) and t(2;8) translocations in rhabdomyosarcoma without the canonical PAX-FOXO1 fuse PAX3 to members of the nuclear receptor transcriptional coactivator family. Sumegi J., Streblow R., Frayer R.W., Dal Cin P., Rosenberg A., Meloni-Ehrig A., Bridge J.A. Genes Chromosomes Cancer 49:224-236(2010) · Mapped (5) |
| Aberrations of 6q13 mapped to the COL12A1 locus in chondromyxoid fibroma. Yasuda T., Nishio J., Sumegi J., Kapels K.M., Althof P.A., Sawyer J.R., Reith J.D., Bridge J.A. Mod. Pathol. 22:1499-1506(2009) · Mapped (6) |
| Functional assessment of perforin C2 domain mutations illustrates the critical role for calcium-dependent lipid binding in perforin cytotoxic function. Urrea Moreno R., Gil J., Rodriguez-Sainz C., Cela E., LaFay V., Oloizia B., Herr A.B., Sumegi J., Jordan M.B., Risma K.A. Blood 113:338-346(2009) · Mapped (2) |
| Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis due to perforin mutations. Trizzino A., zur Stadt U., Ueda I., Risma K., Janka G., Ishii E., Beutel K., Sumegi J., Cannella S., Pende D. et al. J. Med. Genet. 45:15-21(2008) · Mapped (2) |
| Severe Shwachman-Diamond syndrome phenotype caused by compound heterozygous missense mutations in the SBDS gene. Erdos M., Alapi K., Balogh I., Oroszlan G., Rakoczi E., Sumegi J., Marodi L. Exp. Hematol. 34:1517-1521(2006) · Mapped (1) |
| Patients of African ancestry with hemophagocytic lymphohistiocytosis share a common haplotype of PRF1 with a 50delT mutation. Lee S.M., Sumegi J., Villanueva J., Tabata Y., Zhang K., Chakraborty R., Sheng X., Clementi R., de Saint Basile G., Filipovich A.H. J. Pediatr. 149:134-137(2006) · Mapped (2) |
| Evidence for a common ancestor sequence for the Balbiani ring 1 and Balbiani ring 2 genes in Chironomus tentans. Wieslander L., Sumegi J., Daneholt B. Proc. Natl. Acad. Sci. U.S.A. 79:6956-6960(1982) · UniProtKB (1) |
| Aberrant maturation of mutant perforin underlies the clinical diversity of hemophagocytic lymphohistiocytosis. Risma K.A., Frayer R.W., Filipovich A.H., Sumegi J. J. Clin. Invest. 116:182-192(2006) · Mapped (2) |
| SAP increases FynT kinase activity and is required for phosphorylation of SLAM and Ly9. Simarro M., Lanyi A., Howie D., Poy F., Bruggeman J., Choi M., Sumegi J., Eck M.J., Terhorst C. Int. Immunol. 16:727-736(2004) · Mapped (3) |
| Characterisation of diverse PRF1 mutations leading to decreased natural killer cell activity in North American families with haemophagocytic lymphohistiocytosis. Molleran Lee S., Villanueva J., Sumegi J., Zhang K., Kogawa K., Davis J., Filipovich A.H. J. Med. Genet. 41:137-144(2004) · Mapped (2) |
| Mice deficient in the X-linked lymphoproliferative disease gene sap exhibit increased susceptibility to murine gammaherpesvirus-68 and hypo-gammaglobulinemia. Yin L., Al-Alem U., Liang J., Tong W.M., Li C., Badiali M., Medard J.J., Sumegi J., Wang Z.Q., Romeo G. J. Med. Virol. 71:446-455(2003) · Mapped (4) |
| Identification and characterization of a novel gene disrupted by a pericentric inversion inv(4)(p13.1q21.1) in a family with cleft lip. Beiraghi S., Zhou M., Talmadge C.B., Went-Sumegi N., Davis J.R., Huang D., Saal H., Seemayer T.A., Sumegi J. Gene 309:11-21(2003) · UniProtKB (1) |
| SAP couples Fyn to SLAM immune receptors. Chan B., Lanyi A., Song H.K., Griesbach J., Simarro-Grande M., Poy F., Howie D., Sumegi J., Terhorst C., Eck M.J. Nat. Cell Biol. 5:155-160(2003) · UniProtKB (3) · Mapped (8) |
| 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. Huang D., Eudy J.D., Uzvolgyi E., Davis J.R., Talmadge C.B., Pretto D., Weston M.D., Lehman J.E., Zhou M., Seemayer T.A. et al. |
| A spectrum of mutations in SH2D1A that causes X-linked lymphoproliferative disease and other Epstein-Barr virus-associated illnesses. Sumegi J., Seemayer T.A., Huang D., Davis J.R., Morra M., Gross T.G., Yin L., Romco G., Klein E., Terhorst C. et al. Leuk. Lymphoma 43:1189-1201(2002) · Mapped (1) |
| Usher syndrome type III: revised genomic structure of the USH3 gene and identification of novel mutations. Fields R.R., Zhou G., Huang D., Davis J.R., Moeller C., Jacobson S.G., Kimberling W.J., Sumegi J. Am. J. Hum. Genet. 71:607-617(2002) · UniProtKB (2) · Mapped (6) |
| Characterization of SH2D1A missense mutations identified in X-linked lymphoproliferative disease patients. Morra M., Simarro-Grande M., Martin M., Chen A.S.-I., Lanyi A., Silander O., Calpe S., Davis J., Pawson T., Eck M.J. et al. J. Biol. Chem. 276:36809-36816(2001) · UniProtKB (3) |
| Correlation of mutations of the SH2D1A gene and Epstein-Barr virus infection with clinical phenotype and outcome in X-linked lymphoproliferative disease. Sumegi J., Huang D., Lanyi A., Davis J.D., Seemayer T.A., Maeda A., Klein G., Seri M., Wakiguchi H., Purtilo D.T. et al. |
| The gene for a novel transmembrane protein containing epidermal growth factor and follistatin domains is frequently hypermethylated in human tumor cells. Liang G., Robertson K.D., Talmadge C., Sumegi J., Jones P.A. Cancer Res. 60:4907-4912(2000) · UniProtKB (1) |
| Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa. Weston M.D., Eudy J.D., Fugita S., Yao S.-F., Usami S., Cremers C., Greenberg J., Ramesar R., Martini A., Moller C. et al. Am. J. Hum. Genet. 66:1199-1210(2000) · UniProtKB (1) |
| Crystal structures of the XLP protein SAP reveal a class of SH2 domains with extended, phosphotyrosine-independent sequence recognition. Poy F., Yaffe M.B., Sayos J., Saxena K., Morra M., Sumegi J., Cantley L.C., Terhorst C., Eck M.J. |
| The human DNA methyltransferases (DNMTs) 1, 3a and 3b: coordinate mRNA expression in normal tissues and overexpression in tumors. Robertson K.D., Uzvolgyi E., Liang G., Talmadge C., Sumegi J., Gonzales F.A., Jones P.A. Nucleic Acids Res. 27:2291-2298(1999) · UniProtKB (3) |
| Isolation of a gene encoding a novel member of the nuclear receptor superfamily from the critical region of Usher syndrome type IIa at 1q41. Eudy J.D., Yao S.F., Weston M.D., Ma-Edmonds M., Talmadge C.B., Cheng J.J., Kimberling W.J., Sumegi J. Genomics 50:382-384(1998) · UniProtKB (1) |