112 research outputs found
Hereditary palmoplantar keratoderma - phenotypes and mutations in 64 patients
Background Hereditary palmoplantar keratodermas (PPK) represent a heterogeneous group of rare skin disorders with epidermal hyperkeratosis of the palms and soles, with occasional additional manifestations in other tissues. Mutations in at least 69 genes have been implicated in PPK, but further novel candidate genes and mutations are still to be found. Objectives To identify mutations underlying PPK in a cohort of 64 patients. Methods DNA of 48 patients was analysed on a custom-designed in-house panel for 35 PPK genes, and 16 patients were investigated by a diagnostic genetic laboratory either by whole-exome sequencing, gene panels or targeted single-gene sequencing. Results Of the 64 PPK patients, 32 had diffuse (50%), 19 focal (30%) and 13 punctate (20%) PPK. None had striate PPK. Pathogenic mutations in altogether five genes were identified in 31 of 64 (48%) patients, the majority (22/31) with diffuse PPK. Of them, 11 had a mutation in AQP5, five in SERPINB7, four in KRT9 and two in SLURP1. AAGAB mutations were found in nine punctate PPK patients. New mutations were identified in KRT9 and AAGAB. No pathogenic mutations were detected in focal PPK. Variants of uncertain significance (VUS) in PPK-associated and other genes were observed in 21 patients that might explain their PPK. No suggestive pathogenic variants were found for 12 patients. Conclusions Diffuse PPK was the most common (50%) and striate PPK was not observed. We identified pathogenic mutations in 48% of our PPK patients, mainly in five genes: AQP5, AAGAB, KRT9, SERPINB7 and SLURP1.Peer reviewe
Study of decays to the final state and evidence for the decay
A study of decays is performed for the first time
using data corresponding to an integrated luminosity of 3.0
collected by the LHCb experiment in collisions at centre-of-mass energies
of and TeV. Evidence for the decay
is reported with a significance of 4.0 standard deviations, resulting in the
measurement of
to
be .
Here denotes a branching fraction while and
are the production cross-sections for and mesons.
An indication of weak annihilation is found for the region
, with a significance of
2.4 standard deviations.Comment: All figures and tables, along with any supplementary material and
additional information, are available at
https://lhcbproject.web.cern.ch/lhcbproject/Publications/LHCbProjectPublic/LHCb-PAPER-2016-022.html,
link to supplemental material inserted in the reference
Measurement of the B0s âJ/Ïη lifetime
Using a data set corresponding to an integrated luminosity of 3 fbâ1, collected by the LHCb experiment in pp collisions at centre-of-mass energies of 7 and 8 TeV, the effective lifetime in the Bs0âJ/Ïη decay mode, Ïeff, is measured to be
Ïeff=1.479±0.034 (stat)±0.011 (syst) ps. Assuming CP conservation, Ïeff corresponds to the lifetime of the light Bs0 mass eigenstate. This is the first measurement of the effective lifetime in this decay mode
Observation of B+c â D0K+ decays
Using proton-proton collision data corresponding to an integrated luminosity of 3.0 fbâ1, recorded by
the LHCb detector at center-of-mass energies of 7 and 8 TeV, the B+
c â D0K+ decay is observed with a
statistical significance of 5.1 standard deviations. By normalizing to B+ â DÂŻ 0Ï+ decays, a measurement of
the branching fraction multiplied by the production rates for B+
c relative to B+ mesons in the LHCb
acceptance is obtained, R
D
0
K
=
(
f
c
/
f
u
)
Ă
B
(
B
+
c
â
D
0
K
+
)
=
(
9.
3
+
2.8
â
2.5
±
0.6
)
Ă
10
â
7, where the first
uncertainty is statistical and the second is systematic. This decay is expected to proceed predominantly
through weak annihilation and penguin amplitudes, and is the first B+
c decay of this nature to be observed
Measurement of the B_{s}^{0}âÎŒ^{+}ÎŒ^{-} Branching Fraction and Effective Lifetime and Search for B^{0}âÎŒ^{+}ÎŒ^{-} Decays.
A search for the rare decays B_{s}^{0}âÎŒ^{+}ÎŒ^{-} and B^{0}âÎŒ^{+}ÎŒ^{-} is performed at the LHCb experiment using data collected in pp collisions corresponding to a total integrated luminosity of 4.4ââfb^{-1}. An excess of B_{s}^{0}âÎŒ^{+}ÎŒ^{-} decays is observed with a significance of 7.8 standard deviations, representing the first observation of this decay in a single experiment. The branching fraction is measured to be B(B_{s}^{0}âÎŒ^{+}ÎŒ^{-})=(3.0±0.6_{-0.2}^{+0.3})Ă10^{-9}, where the first uncertainty is statistical and the second systematic. The first measurement of the B_{s}^{0}âÎŒ^{+}ÎŒ^{-} effective lifetime, Ï(B_{s}^{0}âÎŒ^{+}ÎŒ^{-})=2.04±0.44±0.05ââps, is reported. No significant excess of B^{0}âÎŒ^{+}ÎŒ^{-} decays is found, and a 95% confidence level upper limit, B(B^{0}âÎŒ^{+}ÎŒ^{-})<3.4Ă10^{-10}, is determined. All results are in agreement with the standard model expectations
Measurement of the CKM angle using with decays
A model-dependent amplitude analysis of the decay is performed using proton-proton collision data
corresponding to an integrated luminosity of 3.0fb, recorded at
and by the LHCb experiment. The CP violation observables
and , sensitive to the CKM angle , are measured to
be \begin{eqnarray*} x_- &=& -0.15 \pm 0.14 \pm 0.03 \pm 0.01, y_- &=& 0.25 \pm
0.15 \pm 0.06 \pm 0.01, x_+ &=& 0.05 \pm 0.24 \pm 0.04 \pm 0.01, y_+ &=&
-0.65^{+0.24}_{-0.23} \pm 0.08 \pm 0.01, \end{eqnarray*} where the first
uncertainties are statistical, the second systematic and the third arise from
the uncertainty on the amplitude model. These
are the most precise measurements of these observables. They correspond to
and , where is
the magnitude of the ratio of the suppressed and favoured decay amplitudes, in a mass region of around the
mass and for an absolute value of the cosine of the decay
angle larger than .Comment: All figures and tables, along with any supplementary material and
additional information, are available at
https://lhcbproject.web.cern.ch/lhcbproject/Publications/LHCbProjectPublic/LHCb-PAPER-2016-007.htm
First experimental study of photon polarization in radiative B-s(0) decays
The polarization of photons produced in radiative B0s decays is studied for the first time. The data are recorded by the LHCb experiment in pp collisions corresponding to an integrated luminosity of 3ââfbâ1 at center-of-mass energies of 7 and 8 TeV. A time-dependent analysis of the B0sâÏÎł decay rate is conducted to determine the parameter AÎ, which is related to the ratio of right- over left-handed photon polarization amplitudes in bâsÎł transitions. A value of AÎ=â0.98+0.46â0.52+0.23â0.20 is measured. This result is consistent with the standard model prediction within 2 standard deviations
Observation of Five New Narrow Omega(0)(c) States Decaying to Xi K-+(c)-
The mass spectrum is studied with a sample of collision
data corresponding to an integrated luminosity of 3.3 fb, collected by
the LHCb experiment. The is reconstructed in the decay mode . Five new, narrow excited states are observed: the
, , , ,
and . Measurements of their masses and widths are reported.Comment: 14 pages, 3 figures. All figures and tables, along with any
supplementary material and additional information, are available at
https://lhcbproject.web.cern.ch/lhcbproject/Publications/LHCbProjectPublic/LHCb-PAPER-2017-002.htm
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