Mucosal melanomas are a rare subtype of melanoma, arising in mucosal tissues, which have a very poor prognosis due to the lack of effective targeted therapies. This study aimed to better understand ...the molecular landscape of these cancers and find potential new therapeutic targets. Whole-exome sequencing was performed on mucosal melanomas from 19 patients and 135 sun-exposed cutaneous melanomas, with matched peripheral blood samples when available. Mutational profiles were compared between mucosal subgroups and sun-exposed cutaneous melanomas. Comparisons of molecular profiles identified 161 genes enriched in mucosal melanoma (P<0.05). KIT and NF1 were frequently comutated (32%) in the mucosal subgroup, with a significantly higher incidence than that in cutaneous melanoma (4%). Recurrent SF3B1 R625H/S/C mutations were identified and validated in 7 of 19 (37%) mucosal melanoma patients. Mutations in the spliceosome pathway were found to be enriched in mucosal melanomas when compared with cutaneous melanomas. Alternative splicing in four genes were observed in SF3B1-mutant samples compared with the wild-type samples. This study identified potential new therapeutic targets for mucosal melanoma, including comutation of NF1 and KIT, and recurrent R625 mutations in SF3B1. This is the first report of SF3B1 R625 mutations in vulvovaginal mucosal melanoma, with the largest whole-exome sequencing project of mucosal melanomas to date. The results here also indicated that the mutations in SF3B1 lead to alternative splicing in multiple genes. These findings expand our knowledge of this rare disease.
A combination is presented of all inclusive deep inelastic cross sections previously published by the H1 and ZEUS collaborations at HERA for neutral and charged current $e^{\pm}p$ scattering for zero ...beam polarisation. The data were taken at proton beam energies of 920, 820, 575 and 460 GeV and an electron beam energy of 27.5 GeV. The data correspond to an integrated luminosity of about 1 fb$^{-1}$ and span six orders of magnitude in negative four-momentum-transfer squared, $Q^2$, and Bjorken $x$. The correlations of the systematic uncertainties were evaluated and taken into account for the combination. The combined cross sections were input to QCD analyses at leading order, next-to-leading order and at next-to-next-to-leading order, providing a new set of parton distribution functions, called HERAPDF2.0. In addition to the experimental uncertainties, model and parameterisation uncertainties were assessed for these parton distribution functions. Variants of HERAPDF2.0 with an alternative gluon parameterisation, HERAPDF2.0AG, and using fixed-flavour-number schemes, HERAPDF2.0FF, are presented. The analysis was extended by including HERA data on charm and jet production, resulting in the variant HERAPDF2.0Jets. The inclusion of jet-production cross sections made a simultaneous determination of these parton distributions and the strong coupling constant possible, resulting in $\alpha_s(M_Z)=0.1183 \pm 0.0009 {\rm(exp)} \pm 0.0005{\rm (model/parameterisation)} \pm 0.0012{\rm (hadronisation)} ^{+0.0037}_{-0.0030}{\rm (scale)}$. An extraction of $xF_3^{\gamma Z}$ and results on electroweak unification and scaling violations are also presented.
Cross sections for elastic and proton-dissociative photoproduction of
J
/
ψ
mesons are measured with the H1 detector in positron-proton collisions at HERA. The data were collected at
ep
...centre-of-mass energies
and
, corresponding to integrated luminosities of
and
, respectively. The cross sections are measured as a function of the photon-proton centre-of-mass energy in the range 25<
W
γp
<110 GeV. Differential cross sections d
σ
/d
t
, where
t
is the squared four-momentum transfer at the proton vertex, are measured in the range |
t
|<1.2 GeV
2
for the elastic process and |
t
|<8 GeV
2
for proton dissociation. The results are compared to other measurements. The
W
γp
and
t
-dependences are parametrised using phenomenological fits.
Charged particle multiplicity distributions in positron-proton deep inelastic scattering at a centre-of-mass energy
s
=
319
GeV are measured. The data are collected with the H1 detector at HERA ...corresponding to an integrated luminosity of 136 pb
-
1
. Charged particle multiplicities are measured as a function of photon virtuality
Q
2
, inelasticity
y
and pseudorapidity
η
in the laboratory and the hadronic centre-of-mass frames. Predictions from different Monte Carlo models are compared to the data. The first and second moments of the multiplicity distributions are determined and the KNO scaling behaviour is investigated. The multiplicity distributions as a function of
Q
2
and the Bjorken variable
x
bj
are converted to the hadron entropy
S
hadron
, and predictions from a quantum entanglement model are tested.
Abstract Artificial oocyte activation has been proposed as a suitable means to overcome the problem of failed or impaired fertilization after intracytoplasmic sperm injection (ICSI). In a multicentre ...setting artificial oocyte activation was applied to 101 patients who were diagnosed with fertilization abnormalities (e.g. less than 50% fertilized oocytes) in a previous conventional ICSI cycle. Female gametes were activated for 15 min immediately after ICSI using a ready-to-use Ca2+ -ionophore solution (A23187). Fertilization, pregnancy and live birth rates were compared with the preceding cycle without activation. The fertilization rate of 48% in the study cycles was significantly higher compared with the 25% in the control cycles ( P < 0.001). Further splitting of the historical control group into failed (0%), low (1–30%) and moderate fertilization rate (31–50%) showed that all groups significantly benefitted ( P < 0.001) in the ionophore cycle. Fewer patients had their embryo transfer cancelled compared with their previous treatments (1/101 versus 15/101). In total, 99% of the patients had an improved outcome with A23187 application resulting in a 28% live birth rate (35 babies). These data suggest that artificial oocyte activation using a ready-to-use compound is an efficient method.
Elastic J/ψ production at HERA Aktas, A.; Andreev, V.; Anthonis, T. ...
The European physical journal. C, Particles and fields,
06/2006, Letnik:
46, Številka:
3
Journal Article
Recenzirano
Odprti dostop
Cross sections for elastic production of J/ψ mesons in photoproduction and electroproduction are measured in electron proton collisions at HERA using an integrated luminosity of 55 pb-1. Results are ...presented for photon virtualities Q2 up to 80 GeV2. The dependence on the photon-proton centre of mass energy Wγp is analysed in the range 40≤Wγp≤305 GeV in photoproduction and 40≤Wγp≤160 GeV in electroproduction. The Wγp dependences of the cross sections do not change significantly with Q2 and can be described by models based on perturbative QCD. Within such models, the data show a high sensitivity to the gluon density of the proton in the domain of low Bjorken x and low Q2. Differential cross sections dσ/dt, where t is the squared four-momentum transfer at the proton vertex, are measured in the range |t|<1.2 GeV2 as functions of Wγp and Q2. Effective Pomeron trajectories are determined for photoproduction and electroproduction. The J/ψ production and decay angular distributions are consistent with s-channel helicity conservation. The ratio of the cross sections for longitudinally and transversely polarised photons is measured as a function of Q2 and is found to be described by perturbative QCD based models.
Inclusive charm and beauty cross sections are measured in
e
−
p
and
e
+
p
neutral current collisions at HERA in the kinematic region of photon virtuality 5≤
Q
2
≤2000 GeV
2
and Bjorken scaling ...variable 0.0002≤
x
≤0.05. The data were collected with the H1 detector in the years 2006 and 2007 corresponding to an integrated luminosity of 189 pb
−1
. The numbers of charm and beauty events are determined using variables reconstructed by the H1 vertex detector including the impact parameter of tracks to the primary vertex and the position of the secondary vertex. The measurements are combined with previous data and compared to QCD predictions.
A measurement is presented of the inclusive neutral current e±p scattering cross section using data collected by the H1 experiment at HERA during the years 2003 to 2007 with proton beam energies Ep ...of 920, 575, and 460 GeV. The kinematic range of the measurement covers low absolute four-momentum transfers squared, 1.5 GeV2<Q2<120 GeV2, small values of Bjorken x, 2.9⋅10−5<x<0.01, and extends to high inelasticity up to y=0.85. The structure function FL is measured by combining the new results with previously published H1 data at Ep=920 GeV and Ep=820 GeV. The new measurements are used to test several phenomenological and QCD models applicable in this low Q2 and low x kinematic domain.
Inclusive e(+/-)p single and double differential cross sections for neutral and charged current deep inelastic scattering processes are measured with the H1 detector at HERA. The data were taken at a ...centre-of-mass energy of root s = 319 GeV with a total integrated luminosity of 333.7 pb(-1) shared between two lepton beam charges and two longitudinal lepton polarisation modes. The differential cross sections are measured in the range of negative four-momentum transfer squared, Q(2), between 60 and 50 000GeV(2), and Bjorken x between 0.0008 and 0.65. The measurements are combined with earlier published unpolarised H1 data to improve statistical precision and used to determine the structure function xF(3)(gamma Z). A measurement of the neutral current parity violating structure function F-2(gamma Z) is presented for the first time. The polarisation dependence of the charged current total cross section is also measured. The new measurements are well described by a next-to-leading order QCD fit based on all published H1 inclusive cross section data which are used to extract the parton distribution functions of the proton.
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