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Autosomal-dominant ataxia with sensory and autonomic neuropathy is a highly specific combined phenotype that we described in two Swedish kindreds in 2014; its genetic cause had remained unknown. Here, we report the discovery of exonic GGC trinucleotide repeat expansions, encoding poly-glycine, in zinc finger homeobox 3 (ZFHX3) in these families. The expansions were identified in whole-genome datas

Through developmental plasticity, an individual organism integrates influences from its immediate environment with those due to the environment of its parents. While both effects on phenotypes are well documented, their relative impact has been little studied in natural systems, especially at the level of gene expression. We examined this issue in four genotypes of the annual plant Persicaria macu

BACKGROUND Numerous laboratory tests are used in the diagnosis and management of patients with diabetes mellitus. The quality of the scientific evidence supporting the use of these assays varies substantially. An expert committee compiled evidence-based recommendations for laboratory analysis in patients with diabetes. The overall quality of the evidence and the strength of the recommendations wer

The late Silurian Lau/Kozlowskii bioevent marks a time interval with substantial loss in marine biodiversity linked to the largest positive carbon isotope excursion (Mid-Ludfordian CIE; MLCIE) recorded in the Phanerozoic (δ13Ccarb peaks at +8–10‰). The positive δ13C excursion and the extinctions have been linked to increased marine productivity (ocean eutrophication), leading to increased organic

Purpose: To describe and compare early screening outcomes before, during and after a randomized controlled trial with digital breast tomosynthesis (DBT) including synthetic 2D mammography versus standard digital mammography (DM) (To-Be 1) and a follow-up cohort study using DBT (To-Be 2). Methods: Retrospective results of 125,020 screening examinations from four consecutive screening rounds perform

In2O3-based catalysts have shown high activity and selectivity for CO2 hydrogenation to methanol; however, the origin of the high performance of In2O3 is still unclear. To elucidate the initial steps of CO2 hydrogenation over In2O3, we have combined X-ray photoelectron spectroscopy and density functional theory calculations to study the adsorption of CO2 on the In2O3(111) crystalline surface with

Four highly deformed structures in the odd-odd nucleus 13661Pm75 were observed via the 105Pd(35Cl,2p2n) reaction at 180 and 173 MeV using the GAMMASPHERE γ-ray spectrometer and the Microball charged-particle detector array. Quadrupole moment measurements were performed on all of the bands. In contrast to lighter odd-Ζ Pm and Pr nuclei, bands based on the g9/2[404]9/2 proton orbital were not observ

Archaeological investigations are by their nature destructive activities. Data documentation is the most important task not to lose the information collected, the interpretations performed and the new knowledge obtained. The Archaeological Interactive Report -AIR is a web platform that provides archaeologists with the tools for documentation, long-term archival, management, visualization, and publ

Marknadens tid samlar bidrag från några av Sveriges främsta historiker och fokuserar tiden från 1970-talet och framåt. Varje kapitel utgår från en bild, och i centrum står marknadsvändningen – en mångfacetterad, men samtidigt tydlig process genom vilken marknaden som institution, ideal och metafor blivit ledande inom samhällslivet. Hur kom det sig?Marknadens tid satte stora avtryck i svensk politiThis timely edited volume gather’s a number of Sweden’s leading historians who specialize on the profound transformations of the late 20th Century. Each chapter starts from an image, and at the center is the “market turn” – a multifaceted, but at the same time distinct historical process through which the market as an institution, an ideal, and a metaphor has become a focal point of social life. H

Hur får man tid över till det viktigaste?Hur kan du åstadkomma mer och bättre genom att göra mindre?Samtidshistorikern David Larsson Heidenblad har grävt, sorterat och testat för att kunna lyfta fram de mest välgrundade och effektiva metoderna och principerna – för den som vill koncentrera sig på det väsentliga i livet.Med hjälp av dessa – och andra tips och råd – hjälper han läsaren att klart och

Vad krävs för att lyckas och trivas som forskare? Den här bloggen ger verktyg för att navigera en akademisk karriär utan att försaka fritid och familj.