| 1. |
- Thompson, B.A., et al.
(författare)
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Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database
- 2014
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 46:2, s. 107-115
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Tidskriftsartikel (refereegranskat)abstract
- The clinical classification of hereditary sequence variants identified in disease-related genes directly affects clinical management of patients and their relatives. The International Society for Gastrointestinal Hereditary Tumours (InSiGHT) undertook a collaborative effort to develop, test and apply a standardized classification scheme to constitutional variants in the Lynch syndrome-associated genes MLH1, MSH2, MSH6 and PMS2. Unpublished data submission was encouraged to assist in variant classification and was recognized through microattribution. The scheme was refined by multidisciplinary expert committee review of the clinical and functional data available for variants, applied to 2,360 sequence alterations, and disseminated online. Assessment using validated criteria altered classifications for 66% of 12,006 database entries. Clinical recommendations based on transparent evaluation are now possible for 1,370 variants that were not obviously protein truncating from nomenclature. This large-scale endeavor will facilitate the consistent management of families suspected to have Lynch syndrome and demonstrates the value of multidisciplinary collaboration in the curation and classification of variants in public locus-specific databases. © 2014 Nature America, Inc.
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| 2. |
- Wiessner, M., et al.
(författare)
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Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia
- 2021
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Ingår i: Brain : a journal of neurology. - : Oxford University Press (OUP). - 0006-8950 .- 1460-2156. ; 144:5, s. 1422-1434
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Tidskriftsartikel (refereegranskat)abstract
- Human 4-hydroxyphenylpyruvate dioxygenase-like (HPDL) is a putative iron-containing non-heme oxygenase of unknown specificity and biological significance. We report 25 families containing 34 individuals with neurological disease associated with biallelic HPDL variants. Phenotypes ranged from juvenile-onset pure hereditary spastic paraplegia to infantile-onset spasticity and global developmental delays, sometimes complicated by episodes of neurological and respiratory decompensation. Variants included bona fide pathogenic truncating changes, although most were missense substitutions. Functionality of variants could not be determined directly as the enzymatic specificity of HPDL is unknown; however, when HPDL missense substitutions were introduced into 4-hydroxyphenylpyruvate dioxygenase (HPPD, an HPDL orthologue), they impaired the ability of HPPD to convert 4-hydroxyphenylpyruvate into homogentisate. Moreover, three additional sets of experiments provided evidence for a role of HPDL in the nervous system and further supported its link to neurological disease: (i) HPDL was expressed in the nervous system and expression increased during neural differentiation; (ii) knockdown of zebrafish hpdl led to abnormal motor behaviour, replicating aspects of the human disease; and (iii) HPDL localized to mitochondria, consistent with mitochondrial disease that is often associated with neurological manifestations. Our findings suggest that biallelic HPDL variants cause a syndrome varying from juvenile-onset pure hereditary spastic paraplegia to infantile-onset spastic tetraplegia associated with global developmental delays. © 2021 The Author(s).
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| 3. |
- Aguar-Bartolome, P., et al.
(författare)
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Measurement of the gamma p -> K-0 Sigma(+) reaction with the Crystal Ball/TAPS detectors at the Mainz Microtron
- 2013
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Ingår i: Physical Review C (Nuclear Physics). - 0556-2813. ; 88:4
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Tidskriftsartikel (refereegranskat)abstract
- The gamma p -> K-0 Sigma(+) reaction has been measured from threshold to E-gamma = 1.45 GeV (W-CM = 1.9 GeV) using the Crystal Ball and TAPS multiphoton spectrometers together with the photon tagging facility at the Mainz Microtron MAMI. In the present experiment, this reaction was searched for in the 3 pi(0)p final state, by assuming K-S(0) -> pi(0)pi(0) and Sigma(+) -> pi(0)p. The experimental results include total and differential cross sections as well as the polarization of the recoil hyperon. The new data significantly improve empirical knowledge about the gamma p -> K-0 Sigma(+) reaction in the measured energy range. The results are compared to previous measurements and model predictions. It is demonstrated that adding the present gamma p -> K-0 Sigma(+) results to existing data allowed a better description of this reaction with various models.
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| 4. |
- Aguar-Bartolome, P., et al.
(författare)
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New determination of the eta transition form factor in the Dalitz decay eta -> e(+) e(-) gamma with the Crystal Ball/TAPS detectors at the Mainz Microtron
- 2014
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Ingår i: Physical Review C (Nuclear Physics). - 0556-2813. ; 89:4
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Tidskriftsartikel (refereegranskat)abstract
- The Dalitz decay eta -> e(+) e(-) gamma has been measured in the gamma p -> eta p reaction with the Crystal Ball and TAPS multiphoton spectrometers, together with the photon-tagging facility at the Mainz Microtron MAMI. The experimental statistic used in this work is one order of magnitude greater than in any previous measurement of eta -> e(+) e(-) gamma. The value obtained for the slope parameter Lambda(-2) of the eta transition form factor, Lambda(-2) = (1.95 +/- 0.15(stat) +/- 0.10(syst)) GeV-2, is in good agreement with recent measurements conducted in eta -> e(+) e(-) gamma and eta -> mu(+) mu(-) gamma decays, as well as with recent form-factor calculations. The uncertainty obtained in the value of Lambda(-2) is lower compared to results from previous measurements of the eta -> e(+) e(-) gamma decay.
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| 5. |
- Kashevarov, V. L., et al.
(författare)
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Experimental study of the gamma p -> pi (0)pi(0) p reaction with the Crystal Ball/TAPS detector system at the Mainz Microtron
- 2012
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Ingår i: Physical Review C (Nuclear Physics). - 0556-2813. ; 85:6
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Tidskriftsartikel (refereegranskat)abstract
- The gamma p -> pi(0)pi(0) p reaction has been measured from threshold to 1.4 GeV using the Crystal Ball and TAPS photon spectrometers together with the photon tagging facility at the Mainz Microtron. The experimental results include total and differential cross sections as well as specific angular distributions, which were used to extract partial-wave amplitudes. In particular, the energy region below the D-13(1520) resonance was studied.
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| 6. |
- Wade, C. M., et al.
(författare)
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Genome Sequence, Comparative Analysis, and Population Genetics of the Domestic Horse
- 2009
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Ingår i: Science. - : American Association for the Advancement of Science (AAAS). - 0036-8075 .- 1095-9203. ; 326:5954, s. 865-867
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Tidskriftsartikel (refereegranskat)abstract
- We report a high-quality draft sequence of the genome of the horse ( Equus caballus). The genome is relatively repetitive but has little segmental duplication. Chromosomes appear to have undergone few historical rearrangements: 53% of equine chromosomes show conserved synteny to a single human chromosome. Equine chromosome 11 is shown to have an evolutionary new centromere devoid of centromeric satellite DNA, suggesting that centromeric function may arise before satellite repeat accumulation. Linkage disequilibrium, showing the influences of early domestication of large herds of female horses, is intermediate in length between dog and human, and there is long-range haplotype sharing among breeds.
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| 7. |
- Dutz, H, et al.
(författare)
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Experimental check of the Gerasimov-Drell-Hearn sum rule for H-1
- 2004
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Ingår i: Physical Review Letters. - 1079-7114. ; 93:3
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Tidskriftsartikel (refereegranskat)abstract
- For the first time we checked the fundamental Gerasimov-Drell-Hearn (GDH) sum rule for the proton experimentally in the photon energy range from 0.2-2.9 GeV with the tagged photon facilities at MAMI (Mainz) and ELSA (Bonn). New data of the doubly polarized total cross section difference are presented in the energy range from 1.6 to 2.9 GeV. The contribution to the GDH integral from 0.2-2.9 GeV yields [254+/-5(stat)+/-12(syst)] mub with negative contributions in the Regge regime at photon energies above 2.1 GeV. This trend supports the validity of the GDH sum rule.
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| 8. |
- Dutz, H, et al.
(författare)
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First measurement of the Gerasimov-Drell-Hearn sum rule for H-1 from 0.7 to 1.8 GeV at ELSA
- 2003
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Ingår i: Physical Review Letters. - 1079-7114. ; 91:19: 192001
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Tidskriftsartikel (refereegranskat)abstract
- To verify the fundamental Gerasimov-Drell-Hearn (GDH) sum rule for the first time experimentally, we measured the helicity dependent total photoabsorption cross section with circularly polarized real photons and longitudinally polarized nucleons in the photon energy range 0.68-1.82 GeV with the tagged photon facility at ELSA. The experiment was carried out with a 4pi detection system, a circularly polarized tagged photon beam, and a frozen spin polarized proton target. The contribution to the GDH sum rule in this photon energy range is [49.9+/-2.4(stat)+/-2.2(syst)] mub.
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| 9. |
- Dutz, H, et al.
(författare)
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Measurement of helicity-dependent photoabsorption cross sections on the neutron from 815 to 1825 MeV
- 2005
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Ingår i: Physical Review Letters. - 1079-7114. ; 94
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Tidskriftsartikel (refereegranskat)abstract
- Helicity-dependent total photoabsorption cross sections on the deuteron have been measured for the first time at ELSA (Bonn) in the photon energy range from 815 to 1825 MeV. Circularly polarized tagged photons impinging on a longitudinally polarized LiD target have been used together with a highly efficient 4 pi detector system. The data around 1 GeV are not compatible with predictions from existing multipole analyses. From the measured energy range an experimental contribution to the GDH integral on the neutron of [33.9 +/- 5.5(stat)+/- 4.5(syst)] mu b is extracted.
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| 10. |
- Ahrens, J, et al.
(författare)
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First measurement of the helicity-dependent (gamma)over-right-arrow(p)over-right-arrow -> p eta differential cross-section
- 2003
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Ingår i: European Physical Journal A. Hadrons and Nuclei. - : Springer Science and Business Media LLC. - 1434-6001. ; 17:2, s. 241-244
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Tidskriftsartikel (refereegranskat)abstract
- The helicity dependence of the (γ) over right arrow(p) over right arrow -+ peta reaction has been measured for the first time at a center-of-mass angle theta(eta)*= 70degrees in the photon energy range from 780 MeV to 790 MeV. The experiment, performed at the Mainz microtron MAMI, used a 4pi-detector system, a circularly polarized, tagged photon beam. and a longitudinally polarized frozen-spin target. The helicity 3/2 cross-section is found to be small and the results for helicity 1/2 agree with predictions from the MAID analysis.
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