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- van Rheenen, Wouter, et al.
(författare)
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Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis
- 2016
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 48:9, s. 1043-1048
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Tidskriftsartikel (refereegranskat)abstract
- To elucidate the genetic architecture of amyotrophic lateral sclerosis (ALS) and find associated loci, we assembled a custom imputation reference panel from whole-genome-sequenced patients with ALS and matched controls (n = 1,861). Through imputation and mixed-model association analysis in 12,577 cases and 23,475 controls, combined with 2,579 cases and 2,767 controls in an independent replication cohort, we fine-mapped a new risk locus on chromosome 21 and identified C21orf2 as a gene associated with ALS risk. In addition, we identified MOBP and SCFD1 as new associated risk loci. We established evidence of ALS being a complex genetic trait with a polygenic architecture. Furthermore, we estimated the SNP-based heritability at 8.5%, with a distinct and important role for low-frequency variants (frequency 1-10%). This study motivates the interrogation of larger samples with full genome coverage to identify rare causal variants that underpin ALS risk.
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- Biasi, P., et al.
(författare)
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Revealing the role of bromide in the H2O2 direct synthesis with the catalyst wet pretreatment method (CWPM)
- 2017
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Ingår i: AIChE Journal. - : American Institute of Chemical Engineers. - 0001-1541 .- 1547-5905. ; 63:1, s. 32-42
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Tidskriftsartikel (refereegranskat)abstract
- A tailor-made Pd0/K2621 catalyst was subjected to post synthesis modification via a wet treatment procedure. The aimwas the understanding of the role of promoters and how—if any—improvements could be qualitatively related to the cat-alyst performance for the H2O2direct synthesis. The Catalyst Wet Pretreatment Method was applied in different metha-nolic solutions containing H2O2, NaBr, and H3PO4, either as single modifiers or as a mixture. The catalyst wascharacterized by Transmission Electron Microscopy and X-ray Photoelectron Spectroscopy. It was concluded that themodified catalysts give rise to higher selectivities compared to the pristi ne reference catalyst thus opening a possibilityto exclude the addit ion of the undesirable selectivity enhancers in the reaction medium. This work provides original evi-dence on the role of promoter s, especially bromide, allowing the formulation of a new reaction mechanism for one ofthe most challenging reactions recognized by the world.
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