|
Childhood Neuroblastoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
A 77-gene ALK signature was established and successfully validated in primary neuroblastoma samples, in a neuroblastoma cell line with ALK(F1174L) and ALK(R1275Q) regulable overexpression constructs and in other ALKomas.
|
25805801 |
2015 |
|
NEUROBLASTOMA, SUSCEPTIBILITY TO
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
|
Mammary Neoplasms
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
|
Mammary Neoplasms
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
|
NEUROBLASTOMA, SUSCEPTIBILITY TO
|
|
0.700 |
CausalMutation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
|
Childhood Neuroblastoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
Using both Sanger and targeted deep sequencing, this study describes the identification of distinct ALK mutations in these paired cell lines, including the rare R1275L mutation, which has not previously been reported in a neuroblastoma cell line.
|
27888620 |
2016 |
|
Central neuroblastoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
Using both Sanger and targeted deep sequencing, this study describes the identification of distinct ALK mutations in these paired cell lines, including the rare R1275L mutation, which has not previously been reported in a neuroblastoma cell line.
|
27888620 |
2016 |
|
Neuroblastoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
Using both Sanger and targeted deep sequencing, this study describes the identification of distinct ALK mutations in these paired cell lines, including the rare R1275L mutation, which has not previously been reported in a neuroblastoma cell line.
|
27888620 |
2016 |
|
Neuroblastoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
Herein, we have illustrated the dynamic conformational property of wild-type ALK as well as the kinase activation equilibrium variation induced by two neuroblastoma mutations (R1275Q and Y1278S) and ATP binding by performing enhanced sampling accelerated Molecular Dynamics (aMD) simulations.
|
29638111 |
2018 |
|
Childhood Neuroblastoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
Herein, we have illustrated the dynamic conformational property of wild-type ALK as well as the kinase activation equilibrium variation induced by two neuroblastoma mutations (R1275Q and Y1278S) and ATP binding by performing enhanced sampling accelerated Molecular Dynamics (aMD) simulations.
|
29638111 |
2018 |
|
Central neuroblastoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
Accordingly, the combination of the ALK/MET inhibitor crizotinib and selective HDAC8 inhibitors (3-6 µM PCI-34051 or 10 µM 20a) efficiently killed neuroblastoma cell lines carrying wildtype ALK (SK-N-BE(2)-C, IMR5/75), amplified ALK (NB-1), and those carrying the activating ALK F1174L mutation (Kelly), and, in cells carrying the activating R1275Q mutation (LAN-5), combination treatment decreased viable cell count.
|
29515255 |
2018 |
|
Neuroblastoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
Accordingly, the combination of the ALK/MET inhibitor crizotinib and selective HDAC8 inhibitors (3-6 µM PCI-34051 or 10 µM 20a) efficiently killed neuroblastoma cell lines carrying wildtype ALK (SK-N-BE(2)-C, IMR5/75), amplified ALK (NB-1), and those carrying the activating ALK F1174L mutation (Kelly), and, in cells carrying the activating R1275Q mutation (LAN-5), combination treatment decreased viable cell count.
|
29515255 |
2018 |
|
Central neuroblastoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
Herein, we have illustrated the dynamic conformational property of wild-type ALK as well as the kinase activation equilibrium variation induced by two neuroblastoma mutations (R1275Q and Y1278S) and ATP binding by performing enhanced sampling accelerated Molecular Dynamics (aMD) simulations.
|
29638111 |
2018 |
|
Childhood Neuroblastoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
Accordingly, the combination of the ALK/MET inhibitor crizotinib and selective HDAC8 inhibitors (3-6 µM PCI-34051 or 10 µM 20a) efficiently killed neuroblastoma cell lines carrying wildtype ALK (SK-N-BE(2)-C, IMR5/75), amplified ALK (NB-1), and those carrying the activating ALK F1174L mutation (Kelly), and, in cells carrying the activating R1275Q mutation (LAN-5), combination treatment decreased viable cell count.
|
29515255 |
2018 |
|
Primary malignant neoplasm
|
|
0.010 |
GeneticVariation
|
BEFREE |
Here, we employ a bioinformatics method, Prediction of T Cell Epitopes for Cancer Therapy, to analyze sequencing data from neuroblastoma patients and identify a recurrent anaplastic lymphoma kinase mutation (<i>ALK</i> R1275Q) that leads to two high affinity neoepitopes when expressed in complex with common HLA alleles.
|
29441070 |
2018 |
|
Malignant Neoplasms
|
|
0.010 |
GeneticVariation
|
BEFREE |
Here, we employ a bioinformatics method, Prediction of T Cell Epitopes for Cancer Therapy, to analyze sequencing data from neuroblastoma patients and identify a recurrent anaplastic lymphoma kinase mutation (<i>ALK</i> R1275Q) that leads to two high affinity neoepitopes when expressed in complex with common HLA alleles.
|
29441070 |
2018 |
|
hereditary neuroblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
The authors report two siblings with familial neuroblastoma with a germline R1275Q mutation of the tyrosine kinase domain of ALK.
|
30350464 |
2018 |
|
Central neuroblastoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
Combined treatment with alectinib and vorinostat might be a novel therapeutic option for NB harboring the ALK R1275Q mutation.
|
31262882 |
2019 |
|
Childhood Neuroblastoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
To study the contribution of ALK mutations in NB initiation and progression, we reprogrammed fibroblasts from two related NB patients carrying germline mutations in ALK (R1275Q) using non-integrating Sendai virus.
|
30605844 |
2019 |
|
Childhood Neuroblastoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
Combined treatment with alectinib and vorinostat might be a novel therapeutic option for NB harboring the ALK R1275Q mutation.
|
31262882 |
2019 |
|
Neuroblastoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
Combined treatment with alectinib and vorinostat might be a novel therapeutic option for NB harboring the ALK R1275Q mutation.
|
31262882 |
2019 |
|
Central neuroblastoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
To study the contribution of ALK mutations in NB initiation and progression, we reprogrammed fibroblasts from two related NB patients carrying germline mutations in ALK (R1275Q) using non-integrating Sendai virus.
|
30605844 |
2019 |
|
Neuroblastoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
To study the contribution of ALK mutations in NB initiation and progression, we reprogrammed fibroblasts from two related NB patients carrying germline mutations in ALK (R1275Q) using non-integrating Sendai virus.
|
30605844 |
2019 |