NUP214 Rearrangements in Leukemia Patients: A Case Series From a Single Institution. | NUP214 Rearrangements in Leukemia Patients: A Case Series From a Single Institution. Choi YJ, Min YK, Lee ST, Choi JR, Shin S., Free PMC Article | 03/26/2024 |
The characteristics and prognostic significance of the SET-CAN/NUP214 fusion gene in hematological malignancies: A systematic review. | The characteristics and prognostic significance of the SET-CAN/NUP214 fusion gene in hematological malignancies: A systematic review. Wang J, Zhan QR, Lu XX, Zhang LJ, Wang XX, Zhang HY., Free PMC Article | 08/13/2022 |
SET-NUP214 and MLL cooperatively regulate the promoter activity of the HoxA10 gene. | SET-NUP214 and MLL cooperatively regulate the promoter activity of the HoxA10 gene. Cigdem S, Saito S, Nishikata D, Nagata K, Okuwaki M. | 01/29/2022 |
[SET-NUP214-positive pediatric acute myeloid leukemia: a report of two cases]. | [SET-NUP214-positive pediatric acute myeloid leukemia: a report of two cases]. Zheng YZ, Wen JJ, Wang LY, Zheng H, Hua XL, Li J, Hu JD., Free PMC Article | 12/4/2021 |
[Prognostic significance of DEK-NUP214 fusion gene in patients with acute myeloid leukemia after allogeneic hematopoietic stem cell transplantation]. | [Prognostic significance of DEK-NUP214 fusion gene in patients with acute myeloid leukemia after allogeneic hematopoietic stem cell transplantation]. Gao MG, Fu Q, Qin YZ, Chang YJ, Wang Y, Yan CH, Xu LP, Zhang XH, Huang XJ, Zhao XS. | 10/2/2021 |
these findings indicate that CRM1 acts as a key molecule that connects leukemogenic proteins to aberrant HOX gene regulation either via nucleoporin-CRM1 interaction (for SET-Nup214) or NES-CRM1 interaction (for NPM1c). | Chromatin-bound CRM1 recruits SET-Nup214 and NPM1c onto HOX clusters causing aberrant HOX expression in leukemia cells. Oka M, Mura S, Otani M, Miyamoto Y, Nogami J, Maehara K, Harada A, Tachibana T, Yoneda Y, Ohkawa Y., Free PMC Article | 05/16/2020 |
Loss of Nup214 inhibited nuclear export of recombination signal-binding protein for immunoglobulin kappaJ region (RBP-J), the DNA-binding component of the Notch pathway. NUP214 fusion proteins, causative for certain cases of T-cell acute lymphatic leukemia, potentially contribute to tumorigenesis via a Notch-dependent mechanism. | The nuclear pore proteins Nup88/214 and T-cell acute lymphatic leukemia-associated NUP214 fusion proteins regulate Notch signaling. Kindermann B, Valkova C, Krämer A, Perner B, Engelmann C, Behrendt L, Kritsch D, Jungnickel B, Kehlenbach RH, Oswald F, Englert C, Kaether C., Free PMC Article | 03/21/2020 |
Pathogenic Variants in NUP214 Cause "Plugged" Nuclear Pore Channels and Acute Febrile Encephalopathy. | Pathogenic Variants in NUP214 Cause "Plugged" Nuclear Pore Channels and Acute Febrile Encephalopathy. Fichtman B, Harel T, Biran N, Zagairy F, Applegate CD, Salzberg Y, Gilboa T, Salah S, Shaag A, Simanovsky N, Ayoubieh H, Sobreira N, Punzi G, Pierri CL, Hamosh A, Elpeleg O, Harel A, Edvardson S., Free PMC Article | 03/14/2020 |
oncogenic kinase NUP214-ABL1, through its downstream effector STAT5, directly cooperates with TLX1 at the transcriptional level. | Cooperative Enhancer Activation by TLX1 and STAT5 Drives Development of NUP214-ABL1/TLX1-Positive T Cell Acute Lymphoblastic Leukemia. Vanden Bempt M, Demeyer S, Broux M, De Bie J, Bornschein S, Mentens N, Vandepoel R, Geerdens E, Radaelli E, Bornhauser BC, Kulozik AE, Meijerink JP, Bourquin JP, de Bock CE, Cools J., Free PMC Article | 06/15/2019 |
we propose that while NUP214 complete deficiency may be lethal in humans, partial deficiency results in a novel autosomal recessive disorder characterized by severe encephalopathy and early death. | NUP214 deficiency causes severe encephalopathy and microcephaly in humans. Shamseldin HE, Makhseed N, Ibrahim N, Al-Sheddi T, Alobeid E, Abdulwahab F, Alkuraya FS. | 03/30/2019 |
19 patients with neurodevelopmental disorders harboring a rare deletion inherited from a healthy parent were investigated by whole-exome sequencing to search for SNV on the contralateral segment. This strategy allowed us to identify a candidate variant in two patients in the NUP214 and NCOR1 genes. | Whole-exome sequence analysis highlights the role of unmasked recessive mutations in copy number variants with incomplete penetrance. Egloff M, Nguyen LS, Siquier-Pernet K, Cormier-Daire V, Baujat G, Attié-Bitach T, Bole-Feysot C, Nitschke P, Vekemans M, Colleaux L, Malan V., Free PMC Article | 02/23/2019 |
RNA-sequencing proved to be a valuable tool for the detection of a fusion of genes DEK and NUP214 in a leukemia that showed cryptic cytogenetic rearrangement of chromosome band 9q34. | DEK-NUP214-Fusion Identified by RNA-Sequencing of an Acute Myeloid Leukemia with t(9;12)(q34;q15). Panagopoulos I, Gorunova L, Torkildsen S, Tjønnfjord GE, Micci F, Heim S., Free PMC Article | 07/7/2018 |
SQSTM1-Nup214, although mostly cytoplasmic, also forms nuclear bodies and inhibits nuclear protein but not poly(A)(+) RNA export. | The Oncogenic Fusion Proteins SET-Nup214 and Sequestosome-1 (SQSTM1)-Nup214 Form Dynamic Nuclear Bodies and Differentially Affect Nuclear Protein and Poly(A)+ RNA Export. Port SA, Mendes A, Valkova C, Spillner C, Fahrenkrog B, Kaether C, Kehlenbach RH., Free PMC Article | 09/30/2017 |
We have identified NUP214, a member of the massive nuclear pore complex, as a novel miR-133b target. | Inhibition of nucleoporin member Nup214 expression by miR-133b perturbs mitotic timing and leads to cell death. Bhattacharjya S, Roy KS, Ganguly A, Sarkar S, Panda CK, Bhattacharyya D, Bhattacharyya NP, Roychoudhury S., Free PMC Article | 01/16/2016 |
t(6;9)/DEK-NUP214 represents a unique subtype of acute myeloid leukemia with a high risk of relapse. | t(6;9)(p22;q34)/DEK-NUP214-rearranged pediatric myeloid leukemia: an international study of 62 patients. Sandahl JD, Coenen EA, Forestier E, Harbott J, Johansson B, Kerndrup G, Adachi S, Auvrignon A, Beverloo HB, Cayuela JM, Chilton L, Fornerod M, de Haas V, Harrison CJ, Inaba H, Kaspers GJ, Liang DC, Locatelli F, Masetti R, Perot C, Raimondi SC, Reinhardt K, Tomizawa D, von Neuhoff N, Zecca M, Zwaan CM, van den Heuvel-Eibrink MM, Hasle H., Free PMC Article | 04/18/2015 |
Both in vitro hexon binding and in vivo nuclear import of the adenovirus genome were strongly reduced in Nup214-depleted cells suggesting that Nup214 is a major binding site of adenovirus during infection. | Nuclear import of adenovirus DNA involves direct interaction of hexon with an N-terminal domain of the nucleoporin Nup214. Cassany A, Ragues J, Guan T, Bégu D, Wodrich H, Kann M, Nemerow GR, Gerace L., Free PMC Article | 04/11/2015 |
NUP214-ABL1-mediated cell proliferation in T-cell acute lymphoblastic leukemia is dependent on the LCK kinase and various interacting proteins. | NUP214-ABL1-mediated cell proliferation in T-cell acute lymphoblastic leukemia is dependent on the LCK kinase and various interacting proteins. De Keersmaecker K, Porcu M, Cox L, Girardi T, Vandepoel R, de Beeck JO, Gielen O, Mentens N, Bennett KL, Hantschel O., Free PMC Article | 07/19/2014 |
the expression of the fusion gene DEK-NUP214 leads to increased cellular proliferation. We show that this is dependent on upregulation of the signal transduction protein mTOR with subsequent effects on protein synthesis and glucose metabolism. | Forced expression of the DEK-NUP214 fusion protein promotes proliferation dependent on upregulation of mTOR. Sandén C, Ageberg M, Petersson J, Lennartsson A, Gullberg U., Free PMC Article | 06/28/2014 |
When compared with SET-NUP214-negative patients, SET-NUP214-positive patients showed a significantly higher rate of corticosteroid resistance (91% vs 44%; P = .003) and chemotherapy resistance (100% vs 44%; P = .0001). | SET-NUP214 is a recurrent γδ lineage-specific fusion transcript associated with corticosteroid/chemotherapy resistance in adult T-ALL. Ben Abdelali R, Roggy A, Leguay T, Cieslak A, Renneville A, Touzart A, Banos A, Randriamalala E, Caillot D, Lioure B, Devidas A, Mossafa H, Preudhomme C, Ifrah N, Dombret H, Macintyre E, Asnafi V. | 05/17/2014 |
The expression of endogenous Nup214 is significantly down-regulated by the reverse inserted lentiviral promoter | Validation-based insertional mutagenesis for identification of Nup214 as a host factor for EV71 replication in RD cells. Wang B, Zhang X, Zhao Z. | 10/19/2013 |
Several phenylalanine-glycine motives in the nucleoporin Nup214 are essential for binding of the nuclear export receptor CRM1. | Several phenylalanine-glycine motives in the nucleoporin Nup214 are essential for binding of the nuclear export receptor CRM1. Roloff S, Spillner C, Kehlenbach RH., Free PMC Article | 04/20/2013 |
Nucleoporin p62 (NUP62) and nucleoporin 214 (NUP214) are differentially distributed between nuclear pore complexes. | Nuclear distributions of NUP62 and NUP214 suggest architectural diversity and spatial patterning among nuclear pore complexes. Kinoshita Y, Kalir T, Dottino P, Kohtz DS., Free PMC Article | 09/8/2012 |
Data describe the relatively high incidence of SET-NUP214 rearrangement in adult T-ALLs, and demonstrate comprehensive clinical, phenotypic, and genetic characteristics of this entity. | Phenotypic and genetic characterization of adult T-cell acute lymphoblastic leukemia with del(9)(q34);SET-NUP214 rearrangement. Chae H, Lim J, Kim M, Park J, Kim Y, Han K, Lee S, Min WS. | 02/25/2012 |
Used MALDI-TOF MS 40-plex assay for testing 40 loci within 21 high-ranking breast cancer CAN-genes. No mutation could be found in 6 cell lines. A single breast cancer tissue sample showed heterozygosity at locus c.5834G>A within the ZFYVE26 gene. | Assessing the value of CAN-gene mutations using MALDI-TOF MS. Kohler C, Tavelin B, Fan AX, Radpour R, Barekati Z, Levi F, Zhong XY, Lenner P, Toniolo P. | 09/10/2011 |
NUP214-ABL1 positive T-cell acute lymphoblastic leukemia patient shows an initial favorable response to imatinib therapy post relapse | NUP214-ABL1 positive T-cell acute lymphoblastic leukemia patient shows an initial favorable response to imatinib therapy post relapse. Clarke S, O'Reilly J, Romeo G, Cooney J. | 08/20/2011 |