|
Virus Diseases
|
0.010 |
Biomarker
|
group |
BEFREE |
Selective recruitment of nucleoporins on vaccinia virus factories and the role of Nup358 in viral infection.
|
28963881 |
2017 |
|
Tumor Progression
|
0.010 |
Biomarker
|
phenotype |
BEFREE |
Many studies implicate nucleoporin in cancer progression, but no direct mechanistic studies of its effect in cancer have been reported.
|
23541576 |
2013 |
|
Retinoblastoma
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Photoreceptor and nucleoporin expression in particular are identified as highly dysregulated in severe anaplasia and suggest particular cellular processes contributing to the development of increased retinoblastoma severity.
|
30036517 |
2018 |
|
Prostate carcinoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
Targeting Nucleoporin POM121-Importin β Axis in Prostate Cancer.
|
30241601 |
2018 |
|
Primary malignant neoplasm
|
0.030 |
Biomarker
|
group |
BEFREE |
This review outlines new mechanistic links between nucleoporin function and cancer pathogenesis.
|
20385085 |
2010 |
|
Primary malignant neoplasm
|
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 |
|
Primary malignant neoplasm
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
Malignant neoplasm of prostate
|
0.010 |
Biomarker
|
disease |
BEFREE |
Targeting Nucleoporin POM121-Importin β Axis in Prostate Cancer.
|
30241601 |
2018 |
|
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 |
|
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 |
|
Leukemia, Myelocytic, Acute
|
0.100 |
Biomarker
|
disease |
BEFREE |
Chromosomal translocations involving chimeric fusions of the nucleoporin NUP98 protein have often been described in acute myelogenous leukemia (AML).
|
21467841 |
2011 |
|
Leukemia, Myelocytic, Acute
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The nucleoporin 98 gene (NUP98), which is rearranged in several acute myeloid leukemia translocations, is located within this region.
|
10477737 |
1999 |
|
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 |