0000000001217074

AUTHOR

J. Friedman

showing 2 related works from this author

De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome

2014

Activating mutations in genes encoding phosphatidylinositol 3-kinase (PI3K)-AKT pathway components cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (MPPH, OMIM 603387)(1-3). Here we report that individuals with MPPH lacking upstream PI3K-AKT pathway mutations carry de novo mutations in CCND2 (encoding cyclin D2) that are clustered around a residue that can be phosphorylated by glycogen synthase kinase 313 (GSK-3 beta)(4). Mutant CCND2 was resistant to proteasomal degradation in vitro compared to wild-type CCND2. The PI3K-AKT pathway modulates GSK-3 beta activity(4), and cells from individuals with PIK3CA, PIK3R2 or AKT3 mutations showed similar CCND2 accumulation. CCND…

endocrine systemBlotting WesternMolecular Sequence DataMutantMedizinBiologymedicine.disease_causeArticleAKT3Mice03 medical and health sciences0302 clinical medicineCyclin D2GSK-3GeneticsmedicineAnimalsCyclin D2HumansAbnormalities MultipleExomeMegalencephalyPI3K/AKT/mTOR pathway030304 developmental biology0303 health sciencesMutationBase SequenceSequence Analysis DNASyndromeCell cyclemedicine.diseaseImmunohistochemistryMolecular biologyMegalencephalyMalformations of Cortical DevelopmentPolydactylyElectroporationHEK293 CellsBromodeoxyuridineMicroscopy FluorescenceMutagenesis Site-DirectedFemale030217 neurology & neurosurgeryHydrocephalusNature Genetics
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Direct measurement of the W boson width

2009

We present a direct measurement of the width of the W boson using the shape of the transverse mass distribution of W->enu candidates selected in 1 fb-1 of data collected with the D0 detector at the Fermilab Tevatron collider in ppbar collisions at sqrt{s}=1.96 TeV. We use the same methods and data sample that were used for our recently published W boson mass measurement, except for the modeling of the recoil, which is done with a new method based on a recoil library. Our result, 2.028 +- 0.072 GeV, is in agreement with the predictions of the standard model.

Particle physicsTevatronGeneral Physics and AstronomyFOS: Physical sciences= 1.8 TEVElementary particle01 natural sciencesHigh Energy Physics - ExperimentStandard Modellaw.inventionNuclear physicsCOLLIDERParticle decayHigh Energy Physics - Experiment (hep-ex)Physics and Astronomy (all)RecoilRATIOPBARP COLLISIONSlaw0103 physical sciences[PHYS.HEXP]Physics [physics]/High Energy Physics - Experiment [hep-ex]RADIATIVE-CORRECTIONSFermilabCollider010306 general physicsNuclear ExperimentBosonPhysics010308 nuclear & particles physicsComputer Science::Information Retrieval14.70.Fm 13.38.Be 13.85.QkTransverse mass= 1.8 TEV; PBARP COLLISIONS; RADIATIVE-CORRECTIONS; RATIO; COLLIDER; DECAYHigh Energy Physics::ExperimentCollider Detector at FermilabDECAY
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