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- van Es, Michael A, et al.
(författare)
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Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis
- 2009
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Ingår i: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 41:10, s. 1083-1087
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Tidskriftsartikel (refereegranskat)abstract
- We conducted a genome-wide association study among 2,323 individuals with sporadic amyotrophic lateral sclerosis (ALS) and 9,013 control subjects and evaluated all SNPs with P < 1.0 x 10(-4) in a second, independent cohort of 2,532 affected individuals and 5,940 controls. Analysis of the genome-wide data revealed genome-wide significance for one SNP, rs12608932, with P = 1.30 x 10(-9). This SNP showed robust replication in the second cohort (P = 1.86 x 10(-6)), and a combined analysis over the two stages yielded P = 2.53 x 10(-14). The rs12608932 SNP is located at 19p13.3 and maps to a haplotype block within the boundaries of UNC13A, which regulates the release of neurotransmitters such as glutamate at neuromuscular synapses. Follow-up of additional SNPs showed genome-wide significance for two further SNPs (rs2814707, with P = 7.45 x 10(-9), and rs3849942, with P = 1.01 x 10(-8)) in the combined analysis of both stages. These SNPs are located at chromosome 9p21.2, in a linkage region for familial ALS with frontotemporal dementia found previously in several large pedigrees.
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| 5. |
- Ellis, W. Chadwick, et al.
(författare)
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Bis phenylene flattened 13-membered tetraamide macrocyclic ligand (TAML) for square planar cobalt(III)
- 2018
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Ingår i: Journal of coordination chemistry (Print). - : TAYLOR & FRANCIS LTD. - 0095-8972 .- 1029-0389. ; 71:11-13, s. 1822-1836
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Tidskriftsartikel (refereegranskat)abstract
- The preparation, characterization, and evaluation of a cobalt(III) complex [CO{(OC)2(o,o'-NC6H4NCO)2CMe2}(OH2)]- with 13-membered tetraamide macrocyclic ligand (TAML) is described. This is a square-planar (X-ray) S=1 paramagnetic (H-1 NMR) compound, which becomes an S=0 diamagnetic octahedral species in excess d(5)-pyridine. Its one-electron oxidation at an electrode is fully reversible with the lowest E-1/2 value (0.66V vs SCE) among all investigated Co-III TAML complexes. The oxidation results in a neutral blue species which is consistent with a Co-III/radical-cation ligand. The ease of oxidation is likely due to the two benzene rings incorporated in the ligand structure (whereas there is just one in many other Co-III TAMLs). The oxidized neutral species are unexpectedly EPR silent, presumably due to the -stacking aggregation. However, they display eight-line hyperfine patterns in the presence of excess of 4-tert-butylpyridine or 4-tert-butyl isonitrile. The EPR spectra are more consistent with the Co-III/radical-cation ligand formulation rather than with a Co-IV complex. Attempts to synthesize a similar vanadium complex under the same conditions as for cobalt using [(VO)-O-V(OCHMe2)(3)] were not successful. TAML-free decavanadate was isolated instead. [GRAPHICS] .
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- Oláh, János, et al.
(författare)
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Revision of the European Rhyacophila fasciata species complex by fine phenomics of the paramere (Trichoptera, Rhyacophilidae)
- 2020
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Ingår i: Opuscula Zoologica Instituti Zoosystematici et Oecologici Universitatis Budapestinensis. - 0237-5419 .- 2063-1588. ; 51:1, s. 21-54
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Tidskriftsartikel (refereegranskat)abstract
- The poorly known, so called widely distributed and highly varying species of the European Rhyacophila fasciata species complex are revised by fine phenomics of the paramere organisation. In this species complex paramere is the most diverse organ. It is the speciation trait integrating the initial split of speciation by its stimulatory and titillating function involved in the early processes of reproductive isolation. Based on paramere organisation and on the character state of distribution three lineages have been delineated in the Rhyacophila fasciata species complex: the European R. fasciata lineage, the Caucasian R. aliena lineage and the R. mysica lineage distributed from Albania to Pakistan. In the R. fasciata lineage we have distinguished three clades of species: R. fasciata with five species, R. matrensis with seven species, and R. denticulata with seven species. We have re-diagnosed three known species: R. fasciata Hagen, 1859, R. denticulataMcLachlan, 1879, R. sociata Navas, 1916 and described 15 species new to science: R. biharensis Oláh sp. nov., R. bulgarica Oláh sp. nov., R. coppai Oláh sp. nov., R. csornahorensis Oláh & Szczęsny sp. nov., R. ferda Oláh sp. nov., R. kopasa Oláh & Coppa sp. nov., R. matrensis Oláh, & Szczęsny sp. nov., R. retezatensis Oláh sp. nov., R. rova Oláh & Coppa sp. nov. R. ruda Oláh & Johanson sp. nov., R. salfa Oláh sp. nov., R. soreda Coppa & Oláh sp. nov. R. suna Oláh sp. nov., R. tuhega Oláh sp. nov., R. zemplenensis Oláh sp. nov. The species status of Rhyacophila gemella Navas, 1923 was reinstated.
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