|
Leukemia, Myelocytic, Acute
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The chromosomal translocation t(7;11)(p15;p15) and the resulting nucleoporin 98-homeobox A9 (<i>NUP98-HOXA9</i>) gene fusion is rare but recurrent genetic abnormity in acute myeloid leukemia (AML).
|
28521413 |
2017 |
|
Leukemia, Myelocytic, Acute
|
0.100 |
Biomarker
|
disease |
BEFREE |
Here we report that fusing an H3K4-trimethylation (H3K4me3)-binding PHD finger, such as the carboxy-terminal PHD finger of PHF23 or JARID1A (also known as KDM5A or RBBP2), to a common fusion partner nucleoporin-98 (NUP98) as identified in human leukaemias, generated potent oncoproteins that arrested haematopoietic differentiation and induced acute myeloid leukaemia in murine models.
|
19430464 |
2009 |
|
Leukemia, Myelocytic, Acute
|
0.100 |
Biomarker
|
disease |
BEFREE |
The nucleoporin Nup98 gene is frequently rearranged in acute myelogenous leukemia (AML).
|
14561764 |
2004 |
|
Leukemia, Myelocytic, Acute
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Inv(11)(p15q23) found in myelodysplastic syndromes and acute myeloid leukemia leads to expression of a fusion protein consisting of the N-terminal of nucleoporin 98 (NUP98) and the majority of the lysine methyltransferase 2A (KMT2A) transcript.
|
31558671 |
2019 |
|
Leukemia, Myelocytic, Acute
|
0.100 |
Biomarker
|
disease |
BEFREE |
DEK was first identified in a fusion with the CAN nucleoporin protein in a specific subtype of acute myelogenous leukemia.
|
9050861 |
1997 |
|
Leukemia, Myelocytic, Acute
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The nucleoporin gene NUP98 was found fused to the HOXA9, HOXD13, or DDX10 genes in human acute myelogenous leukemia (AML) with chromosome translocations t(7;11)(p15;p15), t(2;11)(q35;p15), or inv(11)(p15;q22), respectively.
|
10397741 |
1999 |
|
Leukemia, Myelocytic, Acute
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
This translocation in AML involves both the nucleoporin gene NUP98 on 11p15 and the homeobox gene HOXA9 on 7p15.
|
10583265 |
1999 |
|
Leukemia, Myelocytic, Acute
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Here, we show that two other leukemogenic proteins, nucleoporin-fusion SET-Nup214 and the NPM1 mutant, NPM1c, which contains a nuclear export signal (NES) at its C-terminus and is one of the most frequent mutations in acute myeloid leukemia, are recruited to the <i>HOX</i> cluster region via chromatin-bound CRM1, leading to <i>HOX</i> gene activation in human leukemia cells.
|
31755865 |
2019 |
|
Leukemia, Myelocytic, Acute
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The t(7;11)(p15;p15) translocation in acute myeloid leukaemia fuses the genes for nucleoporin NUP98 and class I homeoprotein HOXA9.
|
8563754 |
1996 |
|
Leukemia, Myelocytic, Acute
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
It has been demonstrated that the chromosomal translocation t(7;11)(p15;p15) in patients with human acute myelogenous leukemia (AML) and chronic myelogenous leukemia (CML) invariably involves fusion of the nucleoporin gene, NUP98, on chromosome 11 and the class 1 HOX gene, HOXA9, on chromosome 7, and that the fusion gene NUP98-HOXA9 is an important gene in myeloid leukemogenesis.
|
11830496 |
2002 |
|
Leukemia, Myelomonocytic, Chronic
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Here we show that aberrant histone acetylation by nucleoporin-98 (NUP98)-HBO1, a newly identified fusion in a patient with CMML, is sufficient to generate clinically relevant CMML pathogenesis.
|
30944097 |
2019 |
|
Malignant neoplasm of colon and/or rectum
|
0.010 |
Biomarker
|
disease |
BEFREE |
(2016) show that in approximately 10% of BRAF-like colorectal cancer (CC) patients, Nup358/RanBP2 is critical for survival.
|
27203373 |
2016 |
|
Malignant neoplasm of prostate
|
0.010 |
Biomarker
|
disease |
BEFREE |
Targeting Nucleoporin POM121-Importin β Axis in Prostate Cancer.
|
30241601 |
2018 |
|
Malignant Neoplasms
|
0.030 |
Biomarker
|
group |
BEFREE |
Studies of nucleoporin-linked cancers have revealed novel mechanisms of oncogenesis and in the future, should continue to expand our understanding of cancer biology.
|
19577736 |
2009 |
|
Malignant Neoplasms
|
0.030 |
AlteredExpression
|
group |
BEFREE |
RANBP2 is a large nucleoporin endowed with SUMO E3 ligase and SUMO-stabilising activity, and is implicated in some cancer types.
|
28600321 |
2017 |
|
Malignant Neoplasms
|
0.030 |
Biomarker
|
group |
BEFREE |
This review outlines new mechanistic links between nucleoporin function and cancer pathogenesis.
|
20385085 |
2010 |
|
melanoma
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Besides the identification of well-recognized driver mutations of <i>BRAF</i> (3.1%), <i>RAS</i> family (6.2%), <i>NF1</i> (7.8%), and <i>KIT</i> (23.1%) in MMs, our study also found that (i) mutations and amplifications in the transmembrane nucleoporin gene <i>POM121</i> (30.8%) defined a patient subgroup with higher tumor proliferation rates; (ii) enrichment of structural variations between chromosomes 5 and 12 defined a patient subgroup with significantly worse clinical outcomes; (iii) over 50% of the MM patients harbored recurrent focal amplification of several oncogenes (<i>CDK4, MDM2,</i> and <i>AGAP2</i>) at 12q13-15, and this co-occurred significantly with amplification of <i>TERT</i> at 5p15, which was verified in the validation cohort; (iv) the PDX trial demonstrated robust antitumor effects of palbociclib in MMs harboring <i>CDK4</i> amplification.
|
30782616 |
2019 |
|
MYELODYSPLASTIC SYNDROME
|
0.020 |
GeneticVariation
|
group |
BEFREE |
The t(7;11)(p15;p15) translocation, observed in acute myelogenous leukemia and myelodysplastic syndrome, generates a chimeric gene where the 5' portion of the sequence encoding the human nucleoporin NUP98 protein is fused to the 3' region of HOXA9.
|
17178874 |
2006 |
|
MYELODYSPLASTIC SYNDROME
|
0.020 |
Biomarker
|
group |
BEFREE |
The nucleoporin gene NUP98 is fused to several genes including HOXD13 in patients with myelodysplastic syndromes (MDS), acute myeloid leukemia, and chronic myeloid leukemia, blast crisis.
|
22927245 |
2012 |
|
Myeloid Leukemia, Chronic
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
It has been demonstrated that the chromosomal translocation t(7;11)(p15;p15) in patients with human acute myelogenous leukemia (AML) and chronic myelogenous leukemia (CML) invariably involves fusion of the nucleoporin gene, NUP98, on chromosome 11 and the class 1 HOX gene, HOXA9, on chromosome 7, and that the fusion gene NUP98-HOXA9 is an important gene in myeloid leukemogenesis.
|
11830496 |
2002 |
|
Myeloid Leukemia, Chronic
|
0.020 |
Biomarker
|
disease |
BEFREE |
The nucleoporin gene NUP98 is fused to several genes including HOXD13 in patients with myelodysplastic syndromes (MDS), acute myeloid leukemia, and chronic myeloid leukemia, blast crisis.
|
22927245 |
2012 |
|
Neoplasms
|
0.010 |
GeneticVariation
|
group |
BEFREE |
Besides the identification of well-recognized driver mutations of <i>BRAF</i> (3.1%), <i>RAS</i> family (6.2%), <i>NF1</i> (7.8%), and <i>KIT</i> (23.1%) in MMs, our study also found that (i) mutations and amplifications in the transmembrane nucleoporin gene <i>POM121</i> (30.8%) defined a patient subgroup with higher tumor proliferation rates; (ii) enrichment of structural variations between chromosomes 5 and 12 defined a patient subgroup with significantly worse clinical outcomes; (iii) over 50% of the MM patients harbored recurrent focal amplification of several oncogenes (<i>CDK4, MDM2,</i> and <i>AGAP2</i>) at 12q13-15, and this co-occurred significantly with amplification of <i>TERT</i> at 5p15, which was verified in the validation cohort; (iv) the PDX trial demonstrated robust antitumor effects of palbociclib in MMs harboring <i>CDK4</i> amplification.
|
30782616 |
2019 |
|
nervous system disorder
|
0.010 |
Biomarker
|
group |
BEFREE |
The cytosolic and peripheral nucleoporin Ranbp2 is a crucial regulator of the Ran GTPase cycle and of the proteostasis of neurological disease-prone substrates, but the roles of Ranbp2 in motoneuron biology and disease remain unknown.
|
28100513 |
2017 |
|
Ovarian Failure, Premature
|
0.010 |
Biomarker
|
disease |
BEFREE |
These results indicate a pivotal role for NUP107 in ovarian development and suggest that nucleoporin defects may play a role in milder and more common conditions such as premature ovarian failure.
|
26485283 |
2015 |
|
Premature Menopause
|
0.010 |
Biomarker
|
disease |
BEFREE |
These results indicate a pivotal role for NUP107 in ovarian development and suggest that nucleoporin defects may play a role in milder and more common conditions such as premature ovarian failure.
|
26485283 |
2015 |