CBL mutations in myeloproliferative neoplasms are also found in the gene's proline-rich domain and in patients with the V617FJAK2.

scientific article published on 7 February 2012

CBL mutations in myeloproliferative neoplasms are also found in the gene's proline-rich domain and in patients with the V617FJAK2. is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.3324/HAEMATOL.2011.052605
P932PMC publication ID3409822
P698PubMed publication ID22315494
P5875ResearchGate publication ID221815647

P50authorItziar MiguélizQ39400013
José Luis VizmanosQ39400047
Francisco Javier Novo VillaverdeQ39400083
P2093author name stringCristina Ormazábal
Ion Cristobal
Cristina Hurtado
Ignacio Erquiaga
Paula Aranaz
Marina García-Delgado
P2860cites workcbl-3: a new mammalian cbl family proteinQ22009959
Recurring mutations found by sequencing an acute myeloid leukemia genomeQ24634204
Novel mutations and their functional and clinical relevance in myeloproliferative neoplasms: JAK2, MPL, TET2, ASXL1, CBL, IDH and IKZF1Q27687464
Primer3 on the WWW for general users and for biologist programmersQ27861030
Inactivating mutations of the histone methyltransferase gene EZH2 in myeloid disordersQ29614510
Mutation in TET2 in myeloid cancersQ29619292
CBL is frequently altered in lung cancers: its relationship to mutations in MET and EGFR tyrosine kinasesQ33528991
Combined mutations of ASXL1, CBL, FLT3, IDH1, IDH2, JAK2, KRAS, NPM1, NRAS, RUNX1, TET2 and WT1 genes in myelodysplastic syndromes and acute myeloid leukemiasQ33647411
Mutations of an E3 ubiquitin ligase c-Cbl but not TET2 mutations are pathogenic in juvenile myelomonocytic leukemiaQ33722741
Cbl and human myeloid neoplasms: the Cbl oncogene comes of age.Q33925815
Kinase mutations in human disease: interpreting genotype-phenotype relationshipsQ34088851
Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemiaQ34130332
Novel oncogenic mutations of CBL in human acute myeloid leukemia that activate growth and survival pathways depend on increased metabolismQ34186690
c-Cbl acts as a mediator of Src-induced activation of the PI3K-Akt signal transduction pathway during TRAIL treatmentQ34250032
Mutations of e3 ubiquitin ligase cbl family members constitute a novel common pathogenic lesion in myeloid malignancies.Q34578265
CBL mutations in juvenile myelomonocytic leukemia and pediatric myelodysplastic syndromeQ43112720
The most commonly reported variant in ASXL1 (c.1934dupG;p.Gly646TrpfsX12) is not a somatic alterationQ43161822
Mutations of ASXL1 gene in myeloproliferative neoplasms.Q43456344
MPL515 mutations in myeloproliferative and other myeloid disorders: a study of 1182 patientsQ44008600
Familial essential thrombocythemia associated with a dominant-positive activating mutation of the c-MPL gene, which encodes for the receptor for thrombopoietinQ44756897
Widespread occurrence of the JAK2 V617F mutation in chronic myeloproliferative disordersQ46513376
Genetic typing of CBL, ASXL1, RUNX1, TET2 and JAK2 in juvenile myelomonocytic leukaemia reveals a genetic profile distinct from chronic myelomonocytic leukaemiaQ47258886
Frequent CBL mutations associated with 11q acquired uniparental disomy in myeloproliferative neoplasmsQ47960630
RUNX1 mutations are frequent in chronic myelomonocytic leukemia and mutations at the C-terminal region might predict acute myeloid leukemia transformation.Q51771337
Deletions of the transcription factor Ikaros in myeloproliferative neoplasms.Q54426186
Myeloid Leukemia Development in c-Cbl RING Finger Mutant Mice Is Dependent on FLT3 SignalingQ54642331
Flt3-dependent transformation by inactivating c-Cbl mutations in AMLQ57269958
Next-Generation Sequencing Technology Reveals a Characteristic Pattern of Molecular Mutations in 72.8% of Chronic Myelomonocytic Leukemia by Detecting Frequent Alterations in TET2, CBL, RAS, and RUNX1Q57740696
Exon 8 splice site mutations in the gene encoding the E3-ligase CBL are associated with core binding factor acute myeloid leukemiasQ81774094
Long-term survival after nonintensive chemotherapy in some juvenile myelomonocytic leukemia patients with CBL mutations, and the possible presence of healthy persons with the mutationsQ84512741
Clonal selection of 11q CN-LOH and CBL gene mutation in a serially studied patient during MDS progression to AMLQ84626274
Oncogenic tyrosine kinases and the DNA-damage responseQ34665985
MPL mutations in myeloproliferative disorders: analysis of the PT-1 cohort.Q34775393
Escape from Cbl-mediated downregulation: a recurrent theme for oncogenic deregulation of receptor tyrosine kinasesQ35169572
JAK/STAT, Raf/MEK/ERK, PI3K/Akt and BCR-ABL in cell cycle progression and leukemogenesisQ35635353
Novel c-CBL and CBL-b ubiquitin ligase mutations in human acute myeloid leukemiaQ35901705
Negative regulation of PTK signalling by Cbl proteinsQ36194521
c-Cbl and Cbl-b ubiquitin ligases: substrate diversity and the negative regulation of signalling responsesQ36280423
Regulating the regulator: negative regulation of Cbl ubiquitin ligasesQ36365848
The Cbl family proteins: ring leaders in regulation of cell signalingQ36495318
Chronic myeloproliferative disorders: the role of tyrosine kinases in pathogenesis, diagnosis and therapy.Q36857947
Classification and diagnosis of myeloproliferative neoplasms: the 2008 World Health Organization criteria and point-of-care diagnostic algorithmsQ36946576
Detection of JAK2 exon 12 mutations in 15 patients with JAK2V617F negative polycythemia veraQ37112871
Familial chronic myeloproliferative disorders: the state of the art.Q37165474
JAK2 and MPL mutations in myeloproliferative neoplasms: discovery and scienceQ37255016
Genetic complexity of myeloproliferative neoplasms.Q37255024
Mutations in CBL occur frequently in juvenile myelomonocytic leukemiaQ37334614
Mutations of the TET2 and CBL genes: novel molecular markers in myeloid malignanciesQ37701292
Gain-of-function c-CBL mutations associated with uniparental disomy of 11q in myeloid neoplasmsQ37710951
Deregulated intracellular signaling by mutated c-CBL in myeloid neoplasms.Q37765082
CBL exon 8/9 mutants activate the FLT3 pathway and cluster in core binding factor/11q deletion acute myeloid leukemia/myelodysplastic syndrome subtypes.Q39874787
High-resolution single-nucleotide polymorphism array-profiling in myeloproliferative neoplasms identifies novel genomic aberrationsQ40108060
E3 ligase-defective Cbl mutants lead to a generalized mastocytosis and myeloproliferative disease.Q42459486
Gain-of-function of mutated C-CBL tumour suppressor in myeloid neoplasmsQ42795736
250K single nucleotide polymorphism array karyotyping identifies acquired uniparental disomy and homozygous mutations, including novel missense substitutions of c-Cbl, in myeloid malignanciesQ43078973
A new potential oncogenic mutation in the FERM domain of JAK2 in BCR/ABL1-negative and V617F-negative chronic myeloproliferative neoplasms revealed by a comprehensive screening of 17 tyrosine kinase coding genes.Q43086317
P433issue8
P407language of work or nameEnglishQ1860
P304page(s)1234-1241
P577publication date2012-02-07
P1433published inHaematologicaQ5638209
P1476titleCBL mutations in myeloproliferative neoplasms are also found in the gene's proline-rich domain and in patients with the V617FJAK2.
P478volume97

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