| 1. |
- Schaafsma, Gerard C.P., et al.
(author)
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BTKbase, Bruton Tyrosine Kinase Variant Database in X-Linked Agammaglobulinemia : Looking Back and Ahead
- 2023
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In: Human Mutation. - 1059-7794. ; 2023
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Journal article (peer-reviewed)abstract
- BTKbase is an international database for disease-causing variants in Bruton tyrosine kinase (BTK) leading to X-linked agammaglobulinemia (XLA), a rare primary immunodeficiency of antibody production. BTKbase was established in 1994 as one of the first publicly available variation databases. The number of cases has more than doubled since the last update; it now contains information for 2310 DNA variants in 2291 individuals. 1025 of the DNA variants are unique. The human genome contains more than 500 protein kinases, among which BTK has the largest number of unique disease-causing variants. The current version of BTKbase has numerous novel features: the database has been reformatted, it has moved to LOVD database management system, it has been internally harmonized, etc. Systematics and standardization have been increased, including Variation Ontology annotations for variation types. There are some regions with lower than expected variation frequency and some hotspots for variations. BTKbase contains, in addition to variant descriptions at DNA, RNA and protein levels, also laboratory parameters and clinical features for many patients. BTKbase has served clinical and research communities in the diagnosis of XLA cases and provides general insight into effects of variations, especially in signalling pathways. Amino acid substitutions and their effects were investigated, predicted, and visualized at 3D level in the protein domains. BTKbase is freely available.
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| 2. |
- Schaafsma, Gerard C. P., et al.
(author)
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Genetic Variation in Bruton Tyrosine Kinase
- 2015
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In: Agammaglobulinemia. - Cham : Springer International Publishing. - 9783319227146 ; , s. 75-85
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Book chapter (peer-reviewed)abstract
- X-linked agammaglobulinemia (XLA) is a hereditary immunodeficiency caused by variations in the gene encoding for Bruton's tyrosine kinase (BTK). Patients with XLA have decreased numbers of mature B cells, lack all immunoglobulin isotypes, and therefore have susceptibility to severe bacterial infections. XLA-causing variations are collected into BTKbase freely available at http://structure.bmc.lu.se/idbase/BTKbase/. Details of the variations are provided at DNA, RNA, and protein levels, using standardized systematic names and a plain English description. In addition, clinical details from the patients are provided when available. BTKbase contains variation entries for 1362 patients from 1198 unrelated families altogether for 742 unique molecular events. The localization of the variations on the gene and protein for BTK can be analyzed by clicking sequences on web pages. The distribution of the variations in the five structural domains is approximately according to the length of the domains, except for the TH and SH3 domains. The most frequently affected sites are CpG dinucleotides. The majority of the amino acid substitutions are structural affecting protein fold or stability. Detailed statistics is provided highlighting variation types, affected domains, exons and introns, as well as structural consequences.
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| 3. |
- Aad, G., et al.
(author)
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- 2014
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Journal article (peer-reviewed)
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| 4. |
- Aaltonen, T., et al.
(author)
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Combination of Tevatron Searches for the Standard Model Higgs Boson in the W+W- Decay Mode
- 2010
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In: Physical Review Letters. - 0031-9007 .- 1079-7114. ; 104:6, s. 061802-
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Journal article (peer-reviewed)abstract
- We combine searches by the CDF and D0 Collaborations for a Higgs boson decaying to W+W-. The data correspond to an integrated total luminosity of 4.8 (CDF) and 5.4 (D0) fb(-1) of p (p) over bar collisions at root s = 1.96 TeV at the Fermilab Tevatron collider. No excess is observed above background expectation, and resulting limits on Higgs boson production exclude a standard model Higgs boson in the mass range 162-166 GeV at the 95% C.L.
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| 7. |
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| 8. |
- Abdallah, H., et al.
(author)
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Search for gamma-Ray Line Signals from Dark Matter Annihilations in the Inner Galactic Halo from 10 Years of Observations with HESS
- 2018
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In: Physical Review Letters. - : American Physical Society. - 0031-9007 .- 1079-7114. ; 120:20
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Journal article (peer-reviewed)abstract
- Spectral lines are among the most powerful signatures for dark matter (DM) annihilation searches in very-high-energy gamma rays. The central region of the Milky Way halo is one of the most promising targets given its large amount of DM and proximity to Earth. We report on a search for a monoenergetic spectral line from self-annihilations of DM particles in the energy range from 300 GeV to 70 TeV using a two-dimensional maximum likelihood method taking advantage of both the spectral and spatial features of the signal versus background. The analysis makes use of Galactic center observations accumulated over ten years (2004-2014) with the H.E.S.S. array of ground-based Cherenkov telescopes. No significant gamma-ray excess above the background is found. We derive upper limits on the annihilation cross section (sigma v) for monoenergetic DM lines at the level of 4 x 10(-28) cm(3) s(-1) at 1 TeV, assuming an Einasto DM profile for the Milky Way halo. For a DM mass of 1 TeV, they improve over the previous ones by a factor of 6. The present constraints are the strongest obtained so far for DM particles in the mass range 300 GeV-70 TeV. Ground-based gamma-ray observations have reached sufficient sensitivity to explore relevant velocity-averaged cross sections for DM annihilation into two gamma-ray photons at the level expected from the thermal relic density for TeV DM particles.
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| 9. |
- Abdallah, J, et al.
(author)
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Determination of A(FB)(b) at the Z pole using inclusive charge reconstruction and lifetime tagging
- 2005
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In: European Physical Journal C. Particles and Fields. - : Springer Science and Business Media LLC. - 1434-6044. ; 40:1, s. 1-25
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Journal article (peer-reviewed)abstract
- A novel high precision method measures the b-quark forward-backward asymmetry at the Z pole on a sample of 3,560,890 hadronic events collected with the DELPHI detector in 1992 to 2000. An enhanced impact parameter tag provides a high purity b sample. For event hemispheres with a reconstructed secondary vertex the charge of the corresponding quark or anti-quark is determined using a neural network which combines in an optimal way the full available charge information from the vertex charge, the jet charge and from identified leptons and hadrons. The probability of correctly identifying b-quarks and anti-quarks is measured on the data themselves comparing the rates of double hemisphere tagged like-sign and unlike-sign events. The b-quark forward-backward asymmetry is determined from the differential asymmetry, taking small corrections due to hemisphere correlations and background contributions into account. The results for different centre-of-mass energies are: A(FB)(b) ( 89.449 GeV) = 0.0637 +/- 0.0143( stat.) +/- 0.0017( syst.), A(FB)(b) ( 91.231 GeV) = 0.0958 +/- 0.0032( stat.) +/- 0.0014( syst.), A(FB)(b) ( 92.990 GeV) = 0.1041 +/- 0.0115( stat.) +/- 0.0024( syst.). Combining these results yields the b-quark pole asymmetry A(FB)(b0) = 0.0972 +/- 0.0030( stat.) +/- 0.0014( syst.).
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| 10. |
- Abdallah, J, et al.
(author)
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Determination of the e(+)e(-)->gamma gamma(gamma) cross-section at LEP 2
- 2004
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In: European Physical Journal C. Particles and Fields. - : Springer Science and Business Media LLC. - 1434-6044. ; 37:4, s. 405-419
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Journal article (peer-reviewed)abstract
- A test of the benchmark QED process e(+) e(-) -->gammagamma(gamma) is reported, using the data collected with the DELPHI detector at LEP 2. The data analysed were recorded at centre-of-mass energies ranging from 161 GeV to 208 GeV and correspond to a total integrated luminosity of 656.4 pb(-1). The Born cross-section for the process e(+) e(-)-->gammagamma(gamma) was determined, confirming the validity of QED at the highest energies ever attained in electron-positron collisions. Lower limits on the parameters of a number of possible deviations from QED, predicted within theoretical frameworks expressing physics beyond the Standard Model, were derived.
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