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001-es BibID:	BIBFORM065574
Első szerző:	Nagy Noémi, M. (vegyész, angol szakfordító)
Cím:	SH2D1A and SLAM protein expression in human lymphocytes and derived cell lines / Noémi Nagy, Cristina Cerboni, Karin Mattsson, Akihiko Maeda, Péter Gogolák, János Sümegi, Árpád Lányi, LáSzló Székely, Ennio Carbone, George Klein, Eva Klein
Dátum:	2000
ISSN:	0020-7136
Megjegyzések:	he gene defect responsible for the X-linked lymphoproliferative disease (XLP) is associated with an impaired control of Epstein-Barr virus (EBV) infection. The gene has been recently identified and the encoded protein (designated SH2D1A, DSHP or SAP) was characterized. It is a 128 amino acid (aa) protein, containing a single Src homology 2 (SH2) domain. It interacts with signaling lymphocytic activation molecule (SLAM) expressed on the surface of activated T and B cells. We show that activated T, but not activated B, cells express the SH2D1A protein. NK cells express the protein as well. Tumor lines originating from B, T or NK cells exhibited similar SH2D1A protein expression as the corresponding normal cells, with some notable exceptions. EBV-carrying, tumor phenotype representative (type I), but not EBV-carrying lymphoblastoid cell line (LCL)-like (type III) or EBV-negative Burkitt lymphoma (BL) lines expressed SH2D1A. The phenotypic switch from type I to type III in the EBV-carrying BL line Mutu was associated with a down-regulation of SH2D1A and up-regulation of SLAM. In contrast to normal ex vivo and long-term activated NK cells, 2 of 3 NK leukemia lines expressed SLAM. All 3 lines expressed SH2D1A, like their normal counterparts.
Tárgyszavak:	Orvostudományok Elméleti orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:	International Journal Of Cancer 88 : 3 (2000), p. 439-447. -
További szerzők:	Cerboni, Cristina Mattsson, Karin Maeda, Akihiko Gogolák Péter (1968-) (biológus, immunológus) Sümegi János Lányi Árpád (1962-) (biológus, immunológus) Székely László Carbone Ennio Klein, George Klein Éva
Internet cím:	Szerző által megadott URL Intézményi repozitóriumban (DEA) tárolt változat
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001-es BibID:	BIBFORM065565
Első szerző:	Sümegi János
Cím:	Correlation of mutations of the SH2D1A gene and Epstein-Barr virus infection with clinical phenotype and outcome in X-linked lymphoproliferative disease / Janos Sumegi, Dali Huang, Arpad Lanyi, Jack D. Davis, Thomas A. Seemayer, Akihiko Maeda, George Klein, Marco Seri, Hiroshi Wakiguchi, David T. Purtilo, Thomas G. Gross
Dátum:	2000
ISSN:	0006-4971
Megjegyzések:	The purposes of this study were to determine the frequency of mutations in SH2D1A in X-linked lymphoproliferative disease (XLP) and the role of SH2D1A mutations and Epstein-Barr virus (EBV) infection in determining the phenotype and outcome of patients with XLP. Analysis of 35 families from the XLP Registry revealed 28 different mutations in 34 families-large genomic deletions (n = 3), small intragenic deletions (n = 10), splice-site (n = 3), nonsense (n = 3), and missense (n = 9) mutations. No mutations were found in 25 males, so-called sporadic XLP (males with an XLP phenotype after EBV infection but no family history of XLP) or in 9 patients with chronic active EBV syndrome. Of 304 symptomatic males in the XLP Registry, 38 had no evidence of EBV infection at first clinical manifestation. When fulminant infectious mononucleosis (FIM) was excluded, there was no statistical difference in the frequency of EBV infectivity in the other XLP phenotypes. Furthermore, there was no difference at age of first clinical manifestation between EBV(+) and EBV(-) males or in survival when patients with FIM were excluded. In conclusion, it was found that mutations in the SH2D1A gene are responsible for XLP but that there is no correlation between genotype and phenotype or outcome. It was also found that though EBV infection often results in FIM, it is unnecessary for the expression of other manifestations of XLP, and it correlates poorly with outcome. These results suggest that unidentified factors, either environmental or genetic (eg, modifier genes), contribute to the pathogenesis of XLP.
Tárgyszavak:	Orvostudományok Elméleti orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:	Blood 96 : 9 (2000), p. 3118-3125. -
További szerzők:	Huang, Dali Lányi Árpád (1962-) (biológus, immunológus) Davis, Jack Seemayer, Thomas A. Maeda, Akihiko Klein, George Seri, Marco Wakiguchi, Hiroshi Purtilo, David T. Gross, Thomas G.
Internet cím:	Szerző által megadott URL Intézményi repozitóriumban (DEA) tárolt változat
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