Sohn YB, Ki C‐S, Kim C‐H, Ko A‐R, Yook Y‐J, Lee S‐J, Kim SJ, Park SW, Yeau S, Kwon E‐K, Han SJ, Choi EW, Lee S‐Y, Kim J‐W, Jin D‐K. Identification of 11 novel mutations in 49 Korean patients with ...mucopolysaccharidosis type II.
Mucopolysaccharidosis type II (MPS II) or Hunter syndrome is a rare lysosomal storage disorder caused by a deficiency of iduronate‐2‐sulfatase (IDS). As MPS II is X‐linked, patients are usually males with heterogeneous mutations ranging from point mutations to gross deletions and recombination. In 2003, we reported a mutation analysis of 25 patients with MPS II. In this study, 31 mutations in another 49 Korean patients (45 families) with MPS II are reported: 12 missense, nine deletions, four splicing, two nonsense, two insertions, one deletion/insertion, and IDS‐IDS2 recombination mutations. Among these mutations, 11 were novel ones (4 missense mutations: Ser61Pro, Pro97Arg, Pro228Ala, and Pro261Ala; 5 deletions: c.344delA, c.420delG, c.768delT, c.1112delC and c.1402delC; 1 deletion/insertion: c.1222delinsTA; and 1 insertion mutation: c.359_360insATCC). The IDS‐IDS2 recombination mutations were most frequently observed; all patients with this mutation had the severe MPS II phenotype. However, most of the patients (5/7) with the G374G splicing mutation had an attenuated phenotype, except for two sibling cases with the severe phenotype. Except for a few recurrent mutations such as the G374G, R443X, L522P, and recombination mutations, each patient had a unique individual mutation. Therefore, careful interpretation of genotype–phenotype correlations is warranted.
Full text
Available for:
BFBNIB, FZAB, GIS, IJS, KILJ, NLZOH, NUK, OILJ, SBCE, SBMB, UL, UM, UPUK
A search for the flavor-changing neutral-current decay B+ →K+$ν\bar{ν}$ is performed at the Belle II experiment at the SuperKEKB asymmetric energy electron-positron collider. The data sample ...corresponds to an integrated luminosity of 63 fb-1 collected at the Υ (4S) resonance and a sample of 9 fb-1 collected at an energy 60 MeV below the resonance. Because the measurable decay signature involves only a single charged kaon, a novel measurement approach is used that exploits not only the properties of the B+ →K+$ν\bar{ν}$ decay, but also the inclusive properties of the other B meson in the Υ(4S) $B\bar{B}$ event, to suppress the background from other B meson decays and light-quark pair production. This inclusive tagging approach offers a higher signal efficiency compared to previous searches. No significant signal is observed. An upper limit on the branching fraction of B+ →K+$ν\bar{ν}$ of 4.1 × 10-5 is set at the 90% confidence level.
Full text
Available for:
CMK, CTK, FMFMET, IJS, NUK, PNG, UL, UM
We search for lepton-flavor-violating τ^{-}→e^{-}α and τ^{-}→μ^{-}α decays, where α is an invisible spin-0 boson. The search uses electron-positron collisions at 10.58 GeV center-of-mass energy with ...an integrated luminosity of 62.8 fb^{-1}, produced by the SuperKEKB collider and collected with the Belle II detector. We search for an excess in the lepton-energy spectrum of the known τ^{-}→e^{-}νover ¯_{e}ν_{τ} and τ^{-}→μ^{-}νover ¯_{μ}ν_{τ} decays. We report 95% confidence-level upper limits on the branching-fraction ratio B(τ^{-}→e^{-}α)/B(τ^{-}→e^{-}νover ¯_{e}ν_{τ}) in the range (1.1-9.7)×10^{-3} and on B(τ^{-}→μ^{-}α)/B(τ^{-}→μ^{-}νover ¯_{μ}ν_{τ}) in the range (0.7-12.2)×10^{-3} for α masses between 0 and 1.6 GeV/c^{2}. These results provide the most stringent bounds on invisible boson production from τ decays.
Full text
Available for:
CMK, CTK, FMFMET, IJS, NUK, PNG, UM
We present the first measurement of the ratio of branching fractions of inclusive semileptonic $B$-meson decays, $R(X_{e/\mu}) = \mathcal{B}(B\to X \, e \, \nu) / \mathcal{B}(B\to X \, \mu \, \nu)$, ...a precision test of electron-muon universality, using data corresponding to $189\,\mathrm{fb}^{-1}$ from electron-positron collisions collected with the Belle II detector. In events where the partner $B$ meson is fully reconstructed, we use fits to the lepton momentum spectra above $1.3\,\mathrm{GeV}/c$ to obtain $R(X_{e/\mu}) = 1.007 \pm 0.009~(\mathrm{stat}) \pm 0.019~(\mathrm{syst})$, which is the most precise lepton-universality test of its kind and agrees with the standard-model expectation.
Full text
Available for:
CMK, CTK, FMFMET, IJS, NUK, PNG, UL, UM
We derive the decay widths for the leptonic decays of heavy charged pseudoscalars to massive sterile neutrinos, M super(+ or -) arrow right scriptl super(+ or -)+N, within the frameworks involving ...the Standard Model and two-Higgs doublets (type II). We then apply the result to B super(+ or -) arrow right tau super(+ or -)+"missing momentum" of the Belle/BABAR experimental results, in order to measure directly the relevant parameter space, including the mixing parameter U sub(tau)N
Full text
Available for:
CMK, CTK, FMFMET, IJS, NUK, PNG, UM
The L_{μ}-L_{τ} extension of the standard model predicts the existence of a lepton-flavor-universality-violating Z^{'} boson that couples only to the heavier lepton families. We search for such a ...Z^{'} through its invisible decay in the process e^{+}e^{-}→μ^{+}μ^{-}Z^{'}. We use a sample of electron-positron collisions at a center-of-mass energy of 10.58 GeV collected by the Belle II experiment in 2019-2020, corresponding to an integrated luminosity of 79.7 fb^{-1}. We find no excess over the expected standard-model background. We set 90%-confidence-level upper limits on the cross section for this process as well as on the coupling of the model, which ranges from 3×10^{-3} at low Z^{'} masses to 1 at Z^{'} masses of 8 GeV/c^{2}.
Full text
Available for:
CMK, CTK, FMFMET, IJS, NUK, PNG, UM
We report the first search for a nonstandard-model resonance decaying into τ pairs in e^{+}e^{-}→μ^{+}μ^{-}τ^{+}τ^{-} events in the 3.6-10 GeV/c^{2} mass range. We use a 62.8 fb^{-1} sample of ...e^{+}e^{-} collisions collected at a center-of-mass energy of 10.58 GeV by the Belle II experiment at the SuperKEKB collider. The analysis probes three different models predicting a spin-1 particle coupling only to the heavier lepton families, a Higgs-like spin-0 particle that couples preferentially to charged leptons (leptophilic scalar), and an axionlike particle, respectively. We observe no evidence for a signal and set exclusion limits at 90% confidence level on the product of cross section and branching fraction into τ pairs, ranging from 0.7 to 24 fb, and on the couplings of these processes. We obtain world-leading constraints on the couplings for the leptophilic scalar model for masses above 6.5 GeV/c^{2} and for the axionlike particle model over the entire mass range.
Full text
Available for:
CMK, CTK, FMFMET, IJS, NUK, PNG, UL, UM
PDF
