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110
result(s) for
"Li, Huanguo"
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A novel in‐frame deletion in KIF5C gene causes infantile onset epilepsy and psychomotor retardation
2024
Motor proteins, encoded by Kinesin superfamily (KIF) genes, are critical for brain development and plasticity. Increasing studies reported KIF’s roles in neurodevelopmental disorders. Here, a 6 years and 3 months‐old Chinese boy with markedly symptomatic epilepsy, intellectual disability, brain atrophy, and psychomotor retardation was investigated. His parents and younger sister were phenotypically normal and had no disease‐related family history. Whole exome sequencing identified a novel heterozygous in‐frame deletion (c.265_267delTCA) in exon 3 of the KIF5C in the proband, resulting in the removal of evolutionarily highly conserved p.Ser90, located in its ATP‐binding domain. Sanger sequencing excluded the proband's parents and family members from harboring this variant. The activity of ATP hydrolysis in vitro was significantly reduced as predicted. Immunofluorescence studies showed wild‐type KIF5C was widely distributed throughout the cytoplasm, while mutant KIF5C was colocalized with microtubules. The live‐cell imaging of the cargo‐trafficking assay revealed that mutant KIF5C lost the peroxisome‐transporting ability. Drosophila models also confirmed p.Ser90del's essential role in nervous system development. This study emphasized the importance of the KIF5C gene in intracellular cargo‐transport as well as germline variants that lead to neurodevelopmental disorders and might enable clinicians for timely and accurate diagnosis and disease management in the future. We identified a novel heterozygous in‐frame deletion (c.265_267delTCA) in exon 3 of KIF5C in a 6 years and 3 months‐old Chinese boy with markedly symptomatic epilepsy, intellectual disability, and psychomotor retardation, resulting in the removal of evolutionarily highly conserved p.Ser90 in its ATP‐binding domain. This study emphasized the importance of the KIF5C in intracellular cargo‐transport as well as germline variants leading to neurodevelopmental disorders.
Journal Article
ATLAS flavour-tagging algorithms for the LHC Run 2 pp collision dataset
by
Walkowiak, W.
,
Raine, J. A.
,
Cuhadar Donszelmann, T.
in
Algorithms
,
Artificial neural networks
,
Astronomy
2023
The flavour-tagging algorithms developed by the ATLAS Collaboration and used to analyse its dataset of
s
=
13
TeV
pp
collisions from Run 2 of the Large Hadron Collider are presented. These new tagging algorithms are based on recurrent and deep neural networks, and their performance is evaluated in simulated collision events. These developments yield considerable improvements over previous jet-flavour identification strategies. At the 77%
b
-jet identification efficiency operating point, light-jet (charm-jet) rejection factors of 170 (5) are achieved in a sample of simulated Standard Model
t
t
¯
events; similarly, at a
c
-jet identification efficiency of 30%, a light-jet (
b
-jet) rejection factor of 70 (9) is obtained.
Journal Article
Observation of quantum entanglement with top quarks at the ATLAS detector
by
Shaheen, Rabia
,
Strandberg, Jonas
,
Zwalinski, L.
in
639/766/419
,
639/766/419/1131
,
Cryptography
2024
Entanglement is a key feature of quantum mechanics
1
–
3
, with applications in fields such as metrology, cryptography, quantum information and quantum computation
4
–
8
. It has been observed in a wide variety of systems and length scales, ranging from the microscopic
9
–
13
to the macroscopic
14
–
16
. However, entanglement remains largely unexplored at the highest accessible energy scales. Here we report the highest-energy observation of entanglement, in top–antitop quark events produced at the Large Hadron Collider, using a proton–proton collision dataset with a centre-of-mass energy of √
s
= 13 TeV and an integrated luminosity of 140 inverse femtobarns (fb)
−1
recorded with the ATLAS experiment. Spin entanglement is detected from the measurement of a single observable
D
, inferred from the angle between the charged leptons in their parent top- and antitop-quark rest frames. The observable is measured in a narrow interval around the top–antitop quark production threshold, at which the entanglement detection is expected to be significant. It is reported in a fiducial phase space defined with stable particles to minimize the uncertainties that stem from the limitations of the Monte Carlo event generators and the parton shower model in modelling top-quark pair production. The entanglement marker is measured to be
D
= −0.537 ± 0.002 (stat.) ± 0.019 (syst.) for
340
GeV
<
m
t
t
¯
<
380
GeV
. The observed result is more than five standard deviations from a scenario without entanglement and hence constitutes the first observation of entanglement in a pair of quarks and the highest-energy observation of entanglement so far.
Entanglement was observed in top–antitop quark events by the ATLAS experiment produced at the Large Hadron Collider at CERN using a proton–proton collision dataset with a centre-of-mass energy of √
s
= 13 TeV and an integrated luminosity of 140 fb
−1
.
Journal Article
Electron and photon efficiencies in LHC Run 2 with the ATLAS experiment
by
Walkowiak, W.
,
Raine, J. A.
,
Cuhadar Donszelmann, T.
in
Algorithms
,
Classical and Quantum Gravitation
,
Collaboration
2024
A
bstract
Precision measurements of electron reconstruction, identification, and isolation efficiencies and photon identification efficiencies are presented. They use the full Run 2 data sample collected by the ATLAS experiment in
pp
collisions at a centre-of-mass energy of 13 TeV during the years 2015–2018, corresponding to an integrated luminosity of 139 fb
−
1
. The measured electron identification efficiencies have uncertainties that are around 30%–50% smaller than the previous Run 2 results due to an improved methodology and the inclusion of more data. A better pile-up subtraction method leads to electron isolation efficiencies that are more independent of the amount of pile-up activity. Updated photon identification efficiencies are also presented, using the full Run 2 data. When compared to the previous measurement, a 30%–40% smaller uncertainty is observed on the photon identification efficiencies, thanks to the increased amount of available data.
Journal Article
Search for pair-produced vector-like top and bottom partners in events with large missing transverse momentum in pp collisions with the ATLAS detector
by
Walkowiak, W.
,
Raine, J. A.
,
Cuhadar Donszelmann, T.
in
Astronomy
,
Astrophysics and Cosmology
,
Collisions
2023
A search for pair-produced vector-like quarks using events with exactly one lepton (
e
or
μ
), at least four jets including at least one
b
-tagged jet, and large missing transverse momentum is presented. Data from proton–proton collisions at a centre-of-mass energy of
s
=
13
TeV
, recorded by the ATLAS detector at the LHC from 2015 to 2018 and corresponding to an integrated luminosity of 139 fb
-
1
, are analysed. Vector-like partners
T
and
B
of the top and bottom quarks are considered, as is a vector-like
X
with charge
+
5
/
3
, assuming their decay into a
W
,
Z
, or Higgs boson and a third-generation quark. No significant deviations from the Standard Model expectation are observed. Upper limits on the production cross-section of
T
and
B
quark pairs as a function of their mass are derived for various decay branching ratio scenarios. The strongest lower limits on the masses are 1.59
TeV
assuming mass-degenerate vector-like quarks and branching ratios corresponding to the weak-isospin doublet model, and 1.47
TeV
(1.46
TeV
) for exclusive
T
→
Z
t
(
B
/
X
→
W
t
) decays. In addition, lower limits on the
T
and
B
quark masses are derived for all possible branching ratios.
Journal Article
Measurement of the CP properties of Higgs boson interactions with τ-leptons with the ATLAS detector
by
Walkowiak, W.
,
Raine, J. A.
,
Lucotte, A.
in
Astronomy
,
Astrophysics and Cosmology
,
Confidence intervals
2023
A study of the charge conjugation and parity (
CP
) properties of the interaction between the Higgs boson and
τ
-leptons is presented. The study is based on a measurement of
CP
-sensitive angular observables defined by the visible decay products of
τ
-leptons produced in Higgs boson decays. The analysis uses 139 fb
-
1
of proton–proton collision data recorded at a centre-of-mass energy of
s
=
13
TeV with the ATLAS detector at the Large Hadron Collider. Contributions from
CP
-violating interactions between the Higgs boson and
τ
-leptons are described by a single mixing angle parameter
ϕ
τ
in the generalised Yukawa interaction. Without constraining the
H
→
τ
τ
signal strength to its expected value under the Standard Model hypothesis, the mixing angle
ϕ
τ
is measured to be
9
∘
±
16
∘
, with an expected value of
0
∘
±
28
∘
at the 68% confidence level. The pure
CP
-odd hypothesis is disfavoured at a level of 3.4 standard deviations. The results are compatible with the predictions for the Higgs boson in the Standard Model.
Journal Article
Constraints on spin-0 dark matter mediators and invisible Higgs decays using ATLAS 13 TeV pp collision data with two top quarks and missing transverse momentum in the final state
by
Walkowiak, W.
,
Raine, J. A.
,
Lucotte, A.
in
Astronomy
,
Astrophysics and Cosmology
,
Confidence intervals
2023
This paper presents a statistical combination of searches targeting final states with two top quarks and invisible particles, characterised by the presence of zero, one or two leptons, at least one jet originating from a
b
-quark and missing transverse momentum. The analyses are searches for phenomena beyond the Standard Model consistent with the direct production of dark matter in
pp
collisions at the LHC, using 139 fb
-
1
of data collected with the ATLAS detector at a centre-of-mass energy of 13 TeV. The results are interpreted in terms of simplified dark matter models with a spin-0 scalar or pseudoscalar mediator particle. In addition, the results are interpreted in terms of upper limits on the Higgs boson invisible branching ratio, where the Higgs boson is produced according to the Standard Model in association with a pair of top quarks. For scalar (pseudoscalar) dark matter models, with all couplings set to unity, the statistical combination extends the mass range excluded by the best of the individual channels by 50 (25) GeV, excluding mediator masses up to 370 GeV. In addition, the statistical combination improves the expected coupling exclusion reach by 14% (24%), assuming a scalar (pseudoscalar) mediator mass of 10 GeV. An upper limit on the Higgs boson invisible branching ratio of 0.38 (
0.30
-
0.09
+
0.13
) is observed (expected) at 95% confidence level.
Journal Article
Test of CP-invariance of the Higgs boson in vector-boson fusion production and in its decay into four leptons
by
Walkowiak, W.
,
Raine, J. A.
,
Cuhadar Donszelmann, T.
in
Classical and Quantum Gravitation
,
Collaboration
,
Couplings
2024
A
bstract
A search for CP violation in the decay kinematics and vector-boson fusion production of the Higgs boson is performed in the
H
→
ZZ
*
→ 4
ℓ
(
ℓ
=
e, μ
) decay channel. The results are based on proton-proton collision data produced at the LHC at a centre-of-mass energy of 13 TeV and recorded by the ATLAS detector from 2015 to 2018, corresponding to an integrated luminosity of 139 fb
−
1
. Matrix element-based optimal observables are used to constrain CP-odd couplings beyond the Standard Model in the framework of Standard Model effective field theory expressed in the Warsaw and Higgs bases. Differential fiducial cross-section measurements of the optimal observables are also performed, and a new fiducial cross-section measurement for vector-boson-fusion production is provided. All measurements are in agreement with the Standard Model prediction of a CP-even Higgs boson.
Journal Article
Search for an axion-like particle with forward proton scattering in association with photon pairs at ATLAS
by
Walkowiak, W.
,
Raine, J. A.
,
Cuhadar Donszelmann, T.
in
Atoms & subatomic particles
,
Charged particles
,
Classical and Quantum Gravitation
2023
A
bstract
A search for forward proton scattering in association with light-by-light scattering mediated by an axion-like particle is presented, using the ATLAS Forward Proton spectrometer to detect scattered protons and the central ATLAS detector to detect pairs of outgoing photons. Proton-proton collision data recorded in 2017 at a centre-of-mass energy of
s
= 13 TeV were analysed, corresponding to an integrated luminosity of 14.6 fb
−
1
. A total of 441 candidate events were selected. A search was made for a narrow resonance in the diphoton mass distribution, corresponding to an axion-like particle (ALP) with mass in the range 150–1600 GeV. No excess is observed above a smooth background. Upper limits on the production cross section of a narrow resonance are set as a function of the mass, and are interpreted as upper limits on the ALP production coupling constant, assuming 100% decay branching ratio into a photon pair. The inferred upper limit on the coupling constant is in the range 0.04–0.09 TeV
−
1
at 95% confidence level.
Journal Article