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- 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 Unpublished data submission was encouraged to assist in variant classification and was recognized through microattribution.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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- Ohara, N, et al.
(författare)
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Sequence analysis and variation of EBNA-1 in Epstein-Barr virus-related herpesvirus of cynomolgus monkey
- 2000
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Ingår i: Intervirology. - : S. Karger AG. - 0300-5526 .- 1423-0100. ; 43:2, s. 102-106
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Tidskriftsartikel (refereegranskat)abstract
- <i>Objectives:</i> The Epstein-Barr virus (EBV) nuclear antigen 1 (EBNA-1) is an important protein for immortalization and tumorigenesis of infected cells. EBNA-1 gene variants may play a role in tumorigenesis. We determined the nucleotide and amino acid (aa) sequences of EBNA-1 in EBV-related herpesviruses from cynomolgus monkeys (cynomolgus-EBV) which induced malignant lymphomas in its natural host and in rabbits, and compared them with sequences of EBV and other lymphocryptoviruses (LCVs). <i>Methods:</i> Polymerase chain reaction and direct sequencing methods were performed using extracted DNA from cynomolgus-EBV-infected cell lines. <i>Results:</i> The amino acid sequences of cynomolgus-EBV EBNA-1 from two cell lines (Si-IIA: 588 aa; Ts-B6: 619 aa) which are antigenically cross-reactive to human EBV EBNA-1 showed homology with human EBV (Si-IIA: 53%; Ts-B6: 58%) and other LCVs from baboons (54 and 52%) and rhesus monkeys (60 and 58%), especially in the C-terminal unique domain. Homology of the EBNA-1 sequence between Si-IIA and Ts-B6 was 92%. The sequence difference between EBV and the related LCVs was manifested mainly in the length of the internal repeat 3-corresponding region, which contains serine in the glycine/alanine repeat region of nonhuman LCVs. <i>Conclusion:</i> Sequence variation of cynomolgus-EBV EBNA-1 from different cell lines was observed. However, their sequences show a relatively high homology with human EBV and share the common features of EBNA-1 of EBV and other LCVs.
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- Choi, A., et al.
(författare)
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Suppression of the magneto resistance in high electric fields of polyacetylene nanofibers
- 2010
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Ingår i: SYNTHETIC METALS. - 0379-6779. ; 160:11-12, s. 1349-1353
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Tidskriftsartikel (refereegranskat)abstract
- We present results of non-linear magneto resistance (MR) of polyacetylene nanofibers in high magnetic field up to H = 30 T at low temperature T = 1.5 K. The MR was proven to be of the spin origin; it reaches 16% at highest H. Unexpectedly, the MR was suppressed by increasing electric field E, vanishing at E ≳ 5 × 104 V/cm. It is understood that the doping induced spinless charged soliton pairs, which are initially confined to a certain distance because of the interchain phase correlations, and are deconfined in high electric fields, resulting in a vanishing magneto resistance (VMR). The role of the specific, degenerate ground state of the polyacetylene is confirmed by parallel studies of the different magneto resistances of polyaniline nanofibers which contrarily is not affected by the electric field. © 2010 Elsevier B.V. All rights reserved.
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