| 751. |
- El-Sayed, Najib M., et al.
(författare)
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The genome sequence of Trypanosoma cruzi, etiologic agent of Chagas disease.
- 2005
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Ingår i: Science. - : American Association for the Advancement of Science (AAAS). - 1095-9203 .- 0036-8075. ; 309:5733, s. 409-15
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Tidskriftsartikel (refereegranskat)abstract
- Whole-genome sequencing of the protozoan pathogen Trypanosoma cruzi revealed that the diploid genome contains a predicted 22,570 proteins encoded by genes, of which 12,570 represent allelic pairs. Over 50% of the genome consists of repeated sequences, such as retrotransposons and genes for large families of surface molecules, which include trans-sialidases, mucins, gp63s, and a large novel family (>1300 copies) of mucin-associated surface protein (MASP) genes. Analyses of the T. cruzi, T. brucei, and Leishmania major (Tritryp) genomes imply differences from other eukaryotes in DNA repair and initiation of replication and reflect their unusual mitochondrial DNA. Although the Tritryp lack several classes of signaling molecules, their kinomes contain a large and diverse set of protein kinases and phosphatases; their size and diversity imply previously unknown interactions and regulatory processes, which may be targets for intervention.
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| 752. |
- Evans, AO, et al.
(författare)
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High-spin structure beyond band termination in Er-157
- 2004
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Ingår i: Physical Review Letters. - 1079-7114. ; 92:25
-
Tidskriftsartikel (refereegranskat)abstract
- The angular-momentum induced transition from a deformed state of collective rotation to a noncollective configuration has been studied. In Er-157 this transition manifests itself as favored band termination near I=45 (h) over bar. The feeding of these band terminating states has been investigated for the first time using the Gammasphere spectrometer. Many weakly populated states lying at high excitation energy that decay into these special states have been discovered. Cranked Nilsson-Strutinsky calculations suggest that these states arise from weakly collective "core-breaking" configurations.
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| 753. |
- Evans, AO, et al.
(författare)
-
High-spin structure in Er-157 up to and above band termination
- 2006
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Ingår i: Physical Review C (Nuclear Physics). - 0556-2813. ; 73:6
-
Tidskriftsartikel (refereegranskat)abstract
- The high-spin structure of Er-157 has been greatly expanded using the Gammasphere spectrometer to investigate the Cd-114(Ca-48,5n) reaction at 215 MeV. Many new transitions have been placed in a greatly augmented level scheme up to spin 40h with many collective rotational sequences established. With increasing angular momentum, this nucleus undergoes a Coriolis-induced shape transition from a deformed state of collective rotation to a noncollective configuration. This transition manifests itself as favored band termination near I=45h in three rotational structures. Many weakly populated states lying at high excitation energy that decay into the terminating states have been discovered. Cranked-Nilsson-Strutinsky calculations suggest that the levels that feed the terminating states arise from weakly collective configurations that break the Z=64 semimagic core.
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| 754. |
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| 755. |
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| 756. |
- Figlioli, G, et al.
(författare)
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FANCM missense variants and breast cancer risk: a case-control association study of 75,156 European women
- 2023
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Ingår i: European journal of human genetics : EJHG. - : Springer Science and Business Media LLC. - 1476-5438 .- 1018-4813. ; 31:5, s. 578-587
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Tidskriftsartikel (refereegranskat)abstract
- Evidence from literature, including the BRIDGES study, indicates that germline protein truncating variants (PTVs) in FANCM confer moderately increased risk of ER-negative and triple-negative breast cancer (TNBC), especially for women with a family history of the disease. Association between FANCM missense variants (MVs) and breast cancer risk has been postulated. In this study, we further used the BRIDGES study to test 689 FANCM MVs for association with breast cancer risk, overall and in ER-negative and TNBC subtypes, in 39,885 cases (7566 selected for family history) and 35,271 controls of European ancestry. Sixteen common MVs were tested individually; the remaining rare 673 MVs were tested by burden analyses considering their position and pathogenicity score. We also conducted a meta-analysis of our results and those from published studies. We did not find evidence for association for any of the 16 variants individually tested. The rare MVs were significantly associated with increased risk of ER-negative breast cancer by burden analysis comparing familial cases to controls (OR = 1.48; 95% CI 1.07–2.04; P = 0.017). Higher ORs were found for the subgroup of MVs located in functional domains or predicted to be pathogenic. The meta-analysis indicated that FANCM MVs overall are associated with breast cancer risk (OR = 1.22; 95% CI 1.08–1.38; P = 0.002). Our results support the definition from previous analyses of FANCM as a moderate-risk breast cancer gene and provide evidence that FANCM MVs could be low/moderate risk factors for ER-negative and TNBC subtypes. Further genetic and functional analyses are necessary to clarify better the increased risks due to FANCM MVs.
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| 757. |
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| 758. |
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| 759. |
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| 760. |
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