|
Budd-Chiari Syndrome
|
|
0.770 |
GeneticVariation
|
BEFREE |
Determination of the JAK2 V617F mutation may be useful to recognize patients with Budd-Chiari syndrome with or at risk for the subsequent development of overt myeloproliferative diseases.
|
18600100 |
2008 |
|
Budd-Chiari Syndrome
|
|
0.770 |
CausalMutation
|
CLINVAR |
Diagnostic value of the JAK2 V617F mutation for latent chronic myeloproliferative disorders in patients with Budd-Chiari syndrome and/or portal vein thrombosis.
|
25698270 |
2015 |
|
Budd-Chiari Syndrome
|
|
0.770 |
GeneticVariation
|
BEFREE |
These results suggest that the JAK2-V617F mutation occurs after the onset of monoclonal haematopoiesis; thus the V617F mutation of JAK2 may not be the primary event in the induction of BCS.
|
19308656 |
2009 |
|
Budd-Chiari Syndrome
|
|
0.770 |
GeneticVariation
|
BEFREE |
JAK2 V617F was identified in 35.6% of 73 patients with EHPVO and in 40% of 20 patients with BCS.
|
17133457 |
2006 |
|
Budd-Chiari Syndrome
|
|
0.770 |
CausalMutation
|
CLINVAR |
Clinical features and etiology of Budd-Chiari syndrome in Chinese patients: a single-center study.
|
23425079 |
2013 |
|
Budd-Chiari Syndrome
|
|
0.770 |
GeneticVariation
|
BEFREE |
The JAK2 V617F mutation was identified in six of 28 patients (21.4%) with idiopathic PVT or BCS and in eight of 45 patients (17.8%) with PVT or BCS secondary to a known prothrombotic factor, but in only one of 38 patients (2.6%) with PVT and cirrhosis (p=0.049).
|
25698270 |
2015 |
|
Budd-Chiari Syndrome
|
|
0.770 |
GeneticVariation
|
BEFREE |
The purpose of this study was to use JAK2 V617F analysis to re-evaluate the validity of elevated Epo levels as a PV-exclusion criterion in patients with hepatic vein thrombosis [Budd-Chiari syndrome (BCS)].
|
16827884 |
2006 |
|
Budd-Chiari Syndrome
|
|
0.770 |
CausalMutation
|
CLINVAR |
Determination of the JAK2 V617F mutation may be useful to recognize patients with Budd-Chiari syndrome with or at risk for the subsequent development of overt myeloproliferative diseases.
|
18600100 |
2008 |
|
Budd-Chiari Syndrome
|
|
0.770 |
GeneticVariation
|
BEFREE |
Here, a 22 year old female with angiographically proven BCS secondary to JAK2/V617F positive Polycythemia vera on therapeutic warfarin presented with acute liver failure (ALF).
|
26626649 |
2016 |
|
Budd-Chiari Syndrome
|
|
0.770 |
CausalMutation
|
CLINVAR |
The presence of JAK2V617F mutation in the liver endothelial cells of patients with Budd-Chiari syndrome.
|
19293426 |
2009 |
|
BUDD-CHIARI SYNDROME, SUSCEPTIBILITY TO, SOMATIC
|
|
0.700 |
SusceptibilityMutation
|
CLINVAR |
|
|
|
|
CAMPOMELIC DYSPLASIA
|
|
0.070 |
GeneticVariation
|
BEFREE |
They also suggest that previous reports of the incidence of JAK2-V617F in CMPD patients, obtained using only analysis of granulocytes, could be underestimations.
|
17854308 |
2007 |
|
CAMPOMELIC DYSPLASIA
|
|
0.070 |
GeneticVariation
|
BEFREE |
To determine the prevalence of JAK2 V617F mutation and its clinical correlation in patients with chronic myeloproliferative disorders (CMD): polycythemia vera (PV), essential thrombocythemia (ET) and idiopathic myelofibrosis (IMF).
|
19941738 |
2009 |
|
CAMPOMELIC DYSPLASIA
|
|
0.070 |
GeneticVariation
|
BEFREE |
Using an allele-specific polymerase chain reaction assay (AS-PCR), the JAK2 V617F mutation was detected in 124/158 (78.5%) cMPD patients; in particular, 90.2, 72.1, 63.2 and 50% of PV, ET, IMF and unclassified (U)-MPD cases, respectively, showed the mutation.
|
18720212 |
2008 |
|
CAMPOMELIC DYSPLASIA
|
|
0.070 |
GeneticVariation
|
BEFREE |
In patients with CMD, the multivariate generalized linear regression model showed that the JAK2 (V617F) mutational burden (P = 0.01), serum lactate dehydrogenase level (P = 0.003), and anaemia (P < 0.001) independently correlated with MVD.
|
18028479 |
2008 |
|
CAMPOMELIC DYSPLASIA
|
|
0.070 |
GeneticVariation
|
BEFREE |
A substantial proportion of patients with splanchnic venous thrombosis and a small, but significant, number of patients with CVT can be recognized as carriers of the JAK2 V617F mutation in the absence of overt signs of CMD.
|
17263783 |
2007 |
|
CAMPOMELIC DYSPLASIA
|
|
0.070 |
GeneticVariation
|
BEFREE |
It identifies most of the patients with the JAK2 V617F but also other JAK2 wild-type CMPD patients.
|
17255768 |
2007 |
|
CAMPOMELIC DYSPLASIA
|
|
0.070 |
GeneticVariation
|
BEFREE |
The recently discovered mutations in patients with CMD (V617F and exon 12 of JAK2 gene, MPL gene), and those identified in hereditary erythrocytosis and in hereditary thrombocytosis have improved our ability to discriminate these conditions.
|
18484677 |
2008 |
|
Carcinogenesis
|
|
0.040 |
GeneticVariation
|
BEFREE |
The knockdown of SOCS3 increased the expression level of the JAK2 V617F mutant, which enhanced the activation of signaling mediators, including signal transducer and activator of transcription 3 and 5 (STAT3, STAT5) and extracellular signal-regulated kinase (ERK), and also increased of the proliferation rate and tumorigenesis activity of Ba/F3 cells expressing the JAK2 V617F mutant and erythropoietin receptor (EpoR).
|
31255914 |
2019 |
|
Carcinogenesis
|
|
0.040 |
GeneticVariation
|
BEFREE |
We herein elucidated the mechanism by which CIS functions as a novel type of tumor suppressor in JAK2 V617F mutant-induced tumorigenesis.
|
28038963 |
2017 |
|
Carcinogenesis
|
|
0.040 |
GeneticVariation
|
BEFREE |
The V617F mutation in the JAK2 non-receptor tyrosine kinase (JAK2V617F) is present as an early somatic event in most patients with myeloproliferative neoplasms (MPNs), and the study of these chronic myeloid malignancies provides an experimentally tractable approach to understanding early tumorigenesis.
|
25288776 |
2014 |
|
Carcinogenesis
|
|
0.040 |
GeneticVariation
|
BEFREE |
Collectively, these results have revealed that phosphorylation of Tyr-343, Tyr-460, and Tyr-464 in EpoR underlies JAK2 V617F mutant-induced tumorigenesis.
|
27998978 |
2017 |
|
Cerebrovascular accident
|
|
0.010 |
GeneticVariation
|
BEFREE |
Because 6 out of 2,430 control individuals with no medical history of venous thrombosis, stroke, or MPN were positive for the JAK2 V617F mutation, a significant association was observed (OR 5.53, CI 1.77-17.2, p = 0.0053 for venous thrombosis; OR 13.9, CI 2.75-70.5, p = 0.0145 for stroke).
|
20616539 |
2010 |
|
Childhood Leukemia
|
|
0.060 |
GeneticVariation
|
BEFREE |
Mutations in the thrombopoietin receptor gene (myeloproliferative leukemia, MPL) have been reported in patients with JAK2 V617F-negative chronic myeloproliferative disorders (MPDs).
|
21326037 |
2011 |
|
Childhood Leukemia
|
|
0.060 |
GeneticVariation
|
BEFREE |
Here we show that retroviral overexpression of Jak2 V617F mutant into wild-type p53 murine bone marrow cells induced polycythemia vera (PV) in the recipient mice, whereas Jak2 V617F-transduced p53-null mice developed lethal leukemia after the preceding PV phase.
|
28068330 |
2017 |