22 research outputs found
Genetic variation at MECOM, TERT, JAK2 and HBS1L-MYB predisposes to myeloproliferative neoplasms
Clonal proliferation in myeloproliferative neoplasms (MPN) is driven by somatic mutations in JAK2, CALR or MPL, but the contribution of inherited factors is poorly characterized. Using a three-stage genome-wide association study of 3,437 MPN cases and 10,083 controls, we identify two SNPs with genome-wide significance in JAK2V617F-negative MPN: rs12339666 (JAK2; meta-analysis P=1.27 × 10−10) and rs2201862 (MECOM; meta-analysis P=1.96 × 10−9). Two additional SNPs, rs2736100 (TERT) and rs9376092 (HBS1L/MYB), achieve genome-wide significance when including JAK2V617F-positive cases. rs9376092 has a stronger effect in JAK2V617F-negative cases with CALR and/or MPL mutations (Breslow–Day P=4.5 × 10−7), whereas in JAK2V617F-positive cases rs9376092 associates with essential thrombocythemia (ET) rather than polycythemia vera (allelic χ2 P=7.3 × 10−7). Reduced MYB expression, previously linked to development of an ET-like disease in model systems, associates with rs9376092 in normal myeloid cells. These findings demonstrate that multiple germline variants predispose to MPN and link constitutional differences in MYB expression to disease phenotype
Transverse momentum spectra of charged particles in proton-proton collisions at GeV with ALICE at the LHC
The inclusive charged particle transverse momentum distribution is measured
in proton-proton collisions at GeV at the LHC using the ALICE
detector. The measurement is performed in the central pseudorapidity region
over the transverse momentum range GeV/.
The correlation between transverse momentum and particle multiplicity is also
studied. Results are presented for inelastic (INEL) and non-single-diffractive
(NSD) events. The average transverse momentum for is (stat.) (syst.) GeV/ and
\left_{\rm NSD}=0.489\pm0.001 (stat.) (syst.)
GeV/, respectively. The data exhibit a slightly larger than measurements in wider pseudorapidity intervals. The results are
compared to simulations with the Monte Carlo event generators PYTHIA and
PHOJET.Comment: 20 pages, 8 figures, 2 tables, published version, figures at
http://aliceinfo.cern.ch/ArtSubmission/node/390
Carbon nanotubes for medical applications
[No abstract available