| 1. |
- Cho, Yoon Shin, et al.
(författare)
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Meta-analysis of genome-wide association studies identifies eight new loci for type 2 diabetes in east Asians.
- 2012
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 44:1
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Tidskriftsartikel (refereegranskat)abstract
- We conducted a three-stage genetic study to identify susceptibility loci for type 2 diabetes (T2D) in east Asian populations. We followed our stage 1 meta-analysis of eight T2D genome-wide association studies (6,952 cases with T2D and 11,865 controls) with a stage 2 in silico replication analysis (5,843 cases and 4,574 controls) and a stage 3 de novo replication analysis (12,284 cases and 13,172 controls). The combined analysis identified eight new T2D loci reaching genome-wide significance, which mapped in or near GLIS3, PEPD, FITM2-R3HDML-HNF4A, KCNK16, MAEA, GCC1-PAX4, PSMD6 and ZFAND3. GLIS3, which is involved in pancreatic beta cell development and insulin gene expression, is known for its association with fasting glucose levels. The evidence of an association with T2D for PEPD and HNF4A has been shown in previous studies. KCNK16 may regulate glucose-dependent insulin secretion in the pancreas. These findings, derived from an east Asian population, provide new perspectives on the etiology of T2D.
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| 2. |
- Galletti, L., et al.
(författare)
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Influence of topological edge states on the properties of Al/Bi2Se3/Al hybrid Josephson devices
- 2014
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Ingår i: Physical Review B - Condensed Matter and Materials Physics. - 2469-9950 .- 2469-9969. ; 89:13
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Tidskriftsartikel (refereegranskat)abstract
- In superconductor-topological insulator-superconductor hybrid junctions, the barrier edge states are expected to be protected against backscattering, to generate unconventional proximity effects, and, possibly, to signal the presence of Majorana fermions. The standards of proximity modes for these types of structures have to be settled for a neat identification of possible new entities. Through a systematic and complete set of measurements of the Josephson properties we find evidence of ballistic transport in coplanar Al-Bi2Se3-Al junctions that we attribute to a coherent transport through the topological edge state. The shunting effect of the bulk only influences the normal transport. This behavior, which can be considered to some extent universal, is fairly independent of the specific features of superconducting electrodes. A comparative study of Shubnikov-de Haas oscillations and scanning tunneling spectroscopy gave an experimental signature compatible with a two-dimensional electron transport channel with a Dirac dispersion relation. A reduction of the size of the Bi2Se3 flakes to the nanoscale is an unavoidable step to drive Josephson junctions in the proper regime to detect possible distinctive features of Majorana fermions.
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| 3. |
- Galletti, L., et al.
(författare)
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Josephson effect in Al/Bi2Se3/Al coplanar hybrid devices
- 2014
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Ingår i: Physica C: Superconductivity and its Applications. - : Elsevier BV. - 0921-4534. ; 503, s. 162-165
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Tidskriftsartikel (refereegranskat)abstract
- The edge states of Topological Insulators (TI) are protected against backscattering, thanks to the topological properties arising from their band structure. Coupling a TI to a superconductor (S) can induce unconventional effects, including the creation of Majorana bound states (MBS). The fabrication of coplanar hybrid devices is a fundamental step to pave the way to the understanding of proximity effects in topologically non-trivial systems, and to a large variety of experiments aimed at the possible detection of MBS. We discuss the feasibility and some relevant properties of Al-Bi2Se3-Al coplanar proximity devices. Special attention is devoted to the design of the junction, aimed at enhancing the coupling between the electrodes and the TI.
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| 4. |
- Yasuda, Kazuki, et al.
(författare)
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Variants in KCNQ1 are associated with susceptibility to type 2 diabetes mellitus
- 2008
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 40:9, s. 1092-1097
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Tidskriftsartikel (refereegranskat)abstract
- We carried out a multistage genome-wide association study of type 2 diabetes mellitus in Japanese individuals, with a total of 1,612 cases and 1,424 controls and 100,000 SNPs. The most significant association was obtained with SNPs in KCNQ1, and dense mapping within the gene revealed that rs2237892 in intron 15 showed the lowest P value (6.7 x 10(-13), odds ratio (OR) = 1.49). The association of KCNQ1 with type 2 diabetes was replicated in populations of Korean, Chinese and European ancestry as well as in two independent Japanese populations, and meta-analysis with a total of 19,930 individuals (9,569 cases and 10,361 controls) yielded a P value of 1.7 x 10(-42) (OR = 1.40; 95% CI = 1.34-1.47) for rs2237892. Among control subjects, the risk allele of this polymorphism was associated with impairment of insulin secretion according to the homeostasis model assessment of beta-cell function or the corrected insulin response. Our data thus implicate KCNQ1 as a diabetes susceptibility gene in groups of different ancestries.
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| 5. |
- Yurgens, Avgust, 1959, et al.
(författare)
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Small-number arrays of intrinsic Josephson junctions
- 2008
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Ingår i: Physica C: Superconductivity and its Applications. - : Elsevier BV. - 0921-4534. ; 468:7-10, s. 674-678
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Tidskriftsartikel (refereegranskat)abstract
- Arrays of nanometre-thick Bi2212-intrinsic Josephson junctions (IJJ's) are studied in various geometries. The samples with only a few IJJ's allow for the intrinsic-tunnelling spectroscopy with minimum of Joule heating. The reproducible low-voltage peaks of the spectra probably stem from a superconducting gap which is half the usual size. We estimate the internal temperature in the IJJ stacks and analyze the importance of the self-heating for the macroscopic-quantum-tunnel ling experiments involving IJJ's.
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