Neoplasms
|
|
0.020 |
GeneticVariation
|
BEFREE |
Wild-type ALK and activating ALK-R1275Q and ALK-F1174L mutations upregulate Myc and initiate tumor formation in murine neural crest progenitor cells.
|
24947326 |
2014 |
Childhood Neuroblastoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
We detected the ALK mutation (F1174C and R1275Q) in 2 (3.7%) of the 54 NB specimens.
|
21940108 |
2011 |
Central neuroblastoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
We detected the ALK mutation (F1174C and R1275Q) in 2 (3.7%) of the 54 NB specimens.
|
21940108 |
2011 |
Neuroblastoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
We detected the ALK mutation (F1174C and R1275Q) in 2 (3.7%) of the 54 NB specimens.
|
21940108 |
2011 |
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 |
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 |
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 |
Carcinogenesis
|
|
0.010 |
GeneticVariation
|
BEFREE |
The two most frequent mutations, ALK-F1174L and ALK-R1275Q, contribute to NB tumorigenesis in mouse models, and cooperate with MYCN in the oncogenic process.
|
24947326 |
2014 |
Neuroblastoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
The two most frequent mutations, ALK-F1174L and ALK-R1275Q, contribute to NB tumorigenesis in mouse models, and cooperate with MYCN in the oncogenic process.
|
24947326 |
2014 |
Childhood Neuroblastoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
The two most frequent mutations, ALK-F1174L and ALK-R1275Q, contribute to NB tumorigenesis in mouse models, and cooperate with MYCN in the oncogenic process.
|
24947326 |
2014 |
Central neuroblastoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
The two most frequent mutations, ALK-F1174L and ALK-R1275Q, contribute to NB tumorigenesis in mouse models, and cooperate with MYCN in the oncogenic process.
|
24947326 |
2014 |
Central neuroblastoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
The most frequent ALK mutations in neuroblastoma cause amino acid substitutions (F1174L and R1275Q) in the intracellular tyrosine kinase domain of the intact ALK receptor.
|
22072639 |
2011 |
Neuroblastoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
The most frequent ALK mutations in neuroblastoma cause amino acid substitutions (F1174L and R1275Q) in the intracellular tyrosine kinase domain of the intact ALK receptor.
|
22072639 |
2011 |
Childhood Neuroblastoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
The most frequent ALK mutations in neuroblastoma cause amino acid substitutions (F1174L and R1275Q) in the intracellular tyrosine kinase domain of the intact ALK receptor.
|
22072639 |
2011 |
NEUROBLASTOMA, SUSCEPTIBILITY TO
|
|
0.700 |
CausalMutation
|
CLINVAR |
The constitutive activity of the ALK mutated at positions F1174 or R1275 impairs receptor trafficking.
|
21242967 |
2011 |
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 |
Childhood Neuroblastoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
The R1275Q neuroblastoma mutant and certain ATP-competitive inhibitors stabilize alternative activation loop conformations of anaplastic lymphoma kinase.
|
22932897 |
2012 |
Central neuroblastoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
The R1275Q neuroblastoma mutant and certain ATP-competitive inhibitors stabilize alternative activation loop conformations of anaplastic lymphoma kinase.
|
22932897 |
2012 |
Neuroblastoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
The R1275Q neuroblastoma mutant and certain ATP-competitive inhibitors stabilize alternative activation loop conformations of anaplastic lymphoma kinase.
|
22932897 |
2012 |
NEUROBLASTOMA, SUSCEPTIBILITY TO
|
|
0.700 |
CausalMutation
|
CLINVAR |
Somatic and germline activating mutations of the ALK kinase receptor in neuroblastoma.
|
18923523 |
2008 |
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 |