rs121917887
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0.100 |
GeneticVariation |
BEFREE |
The point mutation serine 120 to glycine in the human nucleoside diphosphate kinase A has been identified in several aggressive neuroblastomas (Chang, C. L., Zhu, X. X., Thoraval, D. H., Ungar, D., Rawwas, J., Hora, N., Strahler, J. R., Hanash, S. M. & Radany, E. (1994) Nature 370, 335-336).
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9188446 |
1997 |
rs121917887
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0.100 |
GeneticVariation |
BEFREE |
Compared with its wild-type, NDPK-A(S120G) appears more effective in promoting neuroblastoma metastasis.
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15280446 |
2004 |
rs121917887
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0.100 |
GeneticVariation |
BEFREE |
Moreover, like the Killer-of-prune mutation in Drosophila NDK and the neuroblastoma Ser120 --> Gly mutation in human NDK-A/Nm23-H1, the Ser122 --> Pro substitution in NDK-B affects the stability of the protein toward heat and urea.
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10400630 |
1999 |
rs121917887
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0.100 |
GeneticVariation |
BEFREE |
Aggregation of the neuroblastoma-associated mutant (S120G) of the human nucleoside diphosphate kinase-A/NM23-H1 into amyloid fibrils.
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21484438 |
2011 |
rs121917887
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0.100 |
GeneticVariation |
BEFREE |
A similar ser120-gly mutation in NME1 has been found in human neuroblastoma, suggesting that mutation in this region may be a general phenomenon related to tumor progression.
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7794272 |
1995 |
rs121917887
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0.100 |
GeneticVariation |
BEFREE |
The point mutation S120G in human nucleoside diphosphate kinase A, identified in patients with neuroblastoma, causes a protein folding defect.
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19186179 |
2009 |
rs121917887
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0.100 |
GeneticVariation |
BEFREE |
We have also found a serine 120-->glycine substitution in NDPK A and/or amplification of the nm23-H1 gene in advanced stage neuroblastomas.
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8637723 |
1996 |
rs121917887
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0.100 |
GeneticVariation |
BEFREE |
Prune protein interacts with the metastasis suppressor nm23-H1, but shows impaired affinity towards the nm23-H1 S120G mutant associated with advanced neuroblastoma.
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11687967 |
2001 |
rs121917887
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0.100 |
GeneticVariation |
BEFREE |
We summarize and discuss nm23-H1 genetics and the prognosis of neuroblastoma, structural and functional changes associated with the S120G mutation of NDPK-A, as well as the evidence supporting the role of NDPK-A as a metastasis promoter.
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28991262 |
2018 |
rs121917887
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0.100 |
GeneticVariation |
BEFREE |
The mutant S120G has been found in high-grade neuroblastomas.
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16944300 |
2006 |
rs121917887
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0.100 |
GeneticVariation |
BEFREE |
However, the k-pn type proline-96 to serine (P96S) and neuroblastoma type serine-120 to glycine (S120G) mutations of Nm23-H1 abrogated its inhibitory activity on colonization and invasion.
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12859952 |
2003 |