Recurrent mutations in the U2AF1 splicing factor in myelodysplastic syndromes

scientific article published on 11 December 2011

Recurrent mutations in the U2AF1 splicing factor in myelodysplastic syndromes is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1038/NG.1031
P932PMC publication ID3247063
P698PubMed publication ID22158538
P5875ResearchGate publication ID51868516

P50authorElaine MardisQ5353251
Kilannin KrysiakQ47502229
Timothy A. GraubertQ55130327
Michael H TomassonQ59542415
Michael D McLellanQ59542438
Jack BatyQ117256852
Joelle Kalicki-VeizerQ125341223
Marcus GrillotQ125342268
P2093author name stringChristopher C Harris
Li Ding
Richard K Wilson
Talat Nasim
Robert S Fulton
Daniel C Koboldt
Jin Shao
David J Dooling
Dong Shen
Timothy J Ley
David E Larson
Heather Schmidt
John F DiPersio
John L Frater
Matthew J Walter
Daniel C Link
Peter Westervelt
Sharon Heath
Michelle O'Laughlin
Rachel M Abbott
Theresa Okeyo-Owuor
Cara L Lunn
P2860cites workA novel peptide recognition mode revealed by the X-ray structure of a core U2AF35/U2AF65 heterodimerQ24291672
Interactions of CCCH zinc finger proteins with mRNA: non-binding tristetraprolin mutants exert an inhibitory effect on degradation of AU-rich element-containing mRNAsQ24292131
Identification of RPS14 as a 5q- syndrome gene by RNA interference screenQ24306795
In vivo requirement of the small subunit of U2AF for recognition of a weak 3' splice siteQ39125810
A double-reporter splicing assay for determining splicing efficiency in mammalian cellsQ40150084
Functional recognition of the 3' splice site AG by the splicing factor U2AF35.Q40908643
The emerging role of splicing factors in cancerQ43244074
Insertional mutagenesis in zebrafish rapidly identifies genes essential for early vertebrate developmentQ44638792
Mutations of polycomb-associated gene ASXL1 in myelodysplastic syndromes and chronic myelomonocytic leukaemia.Q47956567
An inequality with applications to statistical estimation for probabilistic functions of Markov processes and to a model for ecologyQ56115033
SF3B1, a splicing factor is frequently mutated in refractory anemia with ring sideroblastsQ84876020
Gene set enrichment analysis: a knowledge-based approach for interpreting genome-wide expression profilesQ24536351
Significance analysis of microarrays applied to the ionizing radiation responseQ24606608
Recurring mutations found by sequencing an acute myeloid leukemia genomeQ24634204
DNA sequencing of a cytogenetically normal acute myeloid leukaemia genomeQ24644436
Fast and accurate short read alignment with Burrows-Wheeler transformQ24653853
DAVID: Database for Annotation, Visualization, and Integrated DiscoveryQ27499374
DNMT3A Mutations in Acute Myeloid LeukemiaQ27559610
Recognition of the mRNA AU-rich element by the zinc finger domain of TIS11dQ27643189
Somatic mutations of the histone methyltransferase gene EZH2 in myelodysplastic syndromesQ27851571
Recurrent DNMT3A mutations in patients with myelodysplastic syndromesQ27851629
Use of whole-genome sequencing to diagnose a cryptic fusion oncogeneQ27851641
Somatic SF3B1 mutation in myelodysplasia with ring sideroblastsQ27851675
The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing dataQ27860742
A method and server for predicting damaging missense mutationsQ27860835
The Sequence Alignment/Map format and SAMtoolsQ27860966
The spliceosome: design principles of a dynamic RNP machineQ28131809
Alternative pre-mRNA splicing regulation in cancer: pathways and programs unhingedQ28297381
Genome remodelling in a basal-like breast cancer metastasis and xenograftQ28395637
SIFT: Predicting amino acid changes that affect protein functionQ29547211
Inactivating mutations of the histone methyltransferase gene EZH2 in myeloid disordersQ29614510
Frequent pathway mutations of splicing machinery in myelodysplasiaQ29616088
Pindel: a pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short readsQ29617402
Mutation in TET2 in myeloid cancersQ29619292
Genome-wide survey and expression profiling of CCCH-zinc finger family reveals a functional module in macrophage activationQ33358022
Integrated genomic analysis implicates haploinsufficiency of multiple chromosome 5q31.2 genes in de novo myelodysplastic syndromes pathogenesisQ33412120
VarScan: variant detection in massively parallel sequencing of individual and pooled samplesQ34018143
Allele-specific recognition of the 3' splice site of INS intron 1Q34127329
U2AF35 is encoded by an essential gene clustered in an operon with RRM/cyclophilin in Caenorhabditis elegansQ34361829
Acquired mutations in TET2 are common in myelodysplastic syndromesQ34984094
BreakDancer: an algorithm for high-resolution mapping of genomic structural variationQ34996567
AG-dependent 3'-splice sites are predisposed to aberrant splicing due to a mutation at the first nucleotide of an exon.Q35017903
RNA interference knockdown of hU2AF35 impairs cell cycle progression and modulates alternative splicing of Cdc25 transcriptsQ35128178
Identification of a novel TP53 cancer susceptibility mutation through whole-genome sequencing of a patient with therapy-related AML.Q35205646
Mutations in the small subunit of the Drosophila U2AF splicing factor cause lethality and developmental defectsQ37337043
The splicing factor U2AF small subunit is functionally conserved between fission yeast and humansQ37732601
POU4F1 is associated with t(8;21) acute myeloid leukemia and contributes directly to its unique transcriptional signatureQ38345022
P433issue1
P407language of work or nameEnglishQ1860
P304page(s)53-57
P577publication date2011-12-11
P1433published inNature GeneticsQ976454
P1476titleRecurrent mutations in the U2AF1 splicing factor in myelodysplastic syndromes
P478volume44

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Q35348356U2AF1 mutations alter sequence specificity of pre-mRNA binding and splicing
Q42088141U2AF1 mutations alter splice site recognition in hematological malignancies
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Q36222935Validation of a prognostic model and the impact of mutations in patients with lower-risk myelodysplastic syndromes
Q34213994What are we learning from the cancer genome?
Q58570841Widespread Selection for Oncogenic Mutant Allele Imbalance in Cancer
Q40794680Widespread intron retention diversifies most cancer transcriptomes
Q36173000Wild-Type U2AF1 Antagonizes the Splicing Program Characteristic of U2AF1-Mutant Tumors and Is Required for Cell Survival
Q89550333[Clinical features and prognostic analysis of myelodysplastic syndromes patients with U2AF1 mutation]
Q88739459[High throughput sequencing combined with DNA-PCR for detection of 51 kinds of hematologic malignancy related gene mutations in patients with myelodysplastic syndromes]
Q87798191[Mutational analysis of RNA splicing machinery genes SF3B1, U2AF1 and SRSF2 in 118 patients with myelodysplastic syndromes and related diseases]
Q89319295[U2AF1 mutations in 349 patients with myelodysplastic syndrome]

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