Association between nuclear factor of activated T cells C2 polymorphisms and treatment response in rheumatoid arthritis patients receiving tumor necrosis factor-alpha inhibitors

Autor: Kyung Eun Lee, In Ah Choi, Ju-Yang Jung, Ha Rim Yeon, Hyoun-Ah Kim, Nga Thi Trinh, Hyun Jeong Kim, Joohee Kim, Woorim Kim

Publikováno v: Pharmacogenetics and Genomics. 32:10-15

Objectives Nuclear factor of activated T cells C2 (NFATC2) is known as a member of the transcription family and enhances tumor necrosis factor-alpha (TNF-α) synthesis in human T cells at the gene transcription level. Although NFATC2 has a potential

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::94e8612e2a548b92ebd5f2bf82f82026
https://doi.org/10.1097/fpc.0000000000000446

EWSR1-NFATC2 and FUS-NFATC2 Gene Fusion-Associated Mesenchymal Tumors: Clinicopathologic Correlation and Literature Review

Autor: Beata Bode-Lesniewska, G. U. Exner, Christine Fritz, Ulrich Wagner, Bruno Fuchs

Publikováno v: Sarcoma
Sarcoma, Vol 2019 (2019)

The spectrum of mesenchymal tumors associated with rearrangements of the EWSR1 gene has been growing in recent years due to progress in molecular detection techniques. Originally identified as the gene involved in the pathogenesis of Ewing sarcoma, t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c469543b1fd2cb9490b2e91478a1af7d
https://doi.org/10.5167/uzh-178862

Three-way translocation (X;20;16)(p11;q13;q23) in essential thrombocythemia implicatesNFATC2in dysregulation ofCSF2expression and megakaryocyte proliferation

Autor: Peter Jordan, Ana Marques Pereira, Bárbara Marques, Maria Gomes da Silva, Manuel Nogueira, Luís Vieira, Paulo Matos, Andreia Vaz, Ana Paula Ambrósio

Publikováno v: Genes, Chromosomes and Cancer. 51:1093-1108

Essential thrombocythemia (ET) is a myeloproliferative neoplasm essentially characterized by excessive production of platelets. Molecular pathogenesis of ET is linked in approximately half of the patients to intracellular cytokine signaling dysregula

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2193698eb84f74bc1daf63f4744f7160
https://doi.org/10.1002/gcc.21994

SALL4 and NFATC2: two major actors of interstitial 20q13.2 duplication.: Genotype-phenotype relevance in 20q13.2 gain

Autor: Bassim Tou, J. Bachir, Christine Francannet, Lucie Tosca, Audrey Briand-Suleau, Joris Vermeesch, Irina Giurgea, Michel Goossens, Sophie Brisset, Alexandra Benachi, Philippe Vago, Valérie Delattre, Jérôme Bouligand, Corinne Metay, P. Folliot, Anne Guiochon-Mantel, Carole Goumy, Jelena Martinovic, Gérard Tachdjian

Publikováno v: European Journal of Medical Genetics
European Journal of Medical Genetics, Elsevier, 2014, 57 (4), pp.174-80. ⟨10.1016/j.ejmg.2013.12.013⟩
European Journal of Medical Genetics, 2014, 57 (4), pp.174-80. ⟨10.1016/j.ejmg.2013.12.013⟩

International audience; Interstitial duplication within the long arm of chromosome 20 is an uncommon chromosome structural abnormality. We report here the clinical and molecular characterization associated with pure 20q13.2 duplication in three unrel

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a5082f143adde52dfa2db2be3999cefd
https://www.hal.inserm.fr/inserm-00996152/document

Micro-RNA copy number abnormalities in familial colorectal cancer

Autor: Ad Geurts van Kessel, Eveline J. Kamping, Ramprasath Venkatachalam, Nicoline Hoogerbrugge, Avanita S. Prabowo, Marjolijn J L Ligtenberg, Roland P. Kuiper

Publikováno v: Cancer Genetics and Cytogenetics. 203:47

The majority of the familial colorectal cancer (CRC) cases cannot be explained by known gene defects, suggesting the existence of other genetic risk factors. In an approach to identify such risk factors, we recently performed a screen for copy number

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::673f87fbdc6dbf9ff526ed88367c593a
https://doi.org/10.1016/j.cancergencyto.2010.07.010