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Genome-wide association studies (GWASs) have shown that common genetic variation contributes to the heritable risk of childhood acute lymphoblastic leukemia (ALL). To identify new susceptibility loci for the largest subtype of ALL, B-cell precursor ALL (BCP-ALL), we conducted a meta-analysis of two GWASs with imputation using 1000 Genomes and UK10K Project data as reference (totaling 1658 cases an
Scenarios are a useful tool to help think about and visualise the future and, as such, are utilised by many policymakers and practitioners. Future scenarios have not been used to explore the urban context in much depth, yet have the potential to provide valuable insights into the robustness of decisions being made today in the name of sustainability. As part of a major research project entitled Ur
Understanding the molecular determinants that underpin the clinical heterogeneity of non-muscle-invasive bladder cancer (NMIBC) is essential for prognostication and therapy development. Stage T1 disease in particular presents a high risk of progression and requires improved understanding. We present a detailed multi-omics study containing gene expression, copy number, and mutational profiles that
Amyloid-β (Aβ) is hypothesized to facilitate the spread of tau pathology beyond the medial temporal lobe. However, there is evidence that, independently of Aβ, age-related tau pathology might be present outside of the medial temporal lobe. We therefore aimed to study age-related Aβ-independent tau deposition outside the medial temporal lobe in two large cohorts and to investigate potential downstr
Researchers from diverse disciplines, including organismal and cellular physiology, sports science, human nutrition, evolution and ecology, have sought to understand the causes and consequences of the surprising variation in metabolic rate found among and within individual animals of the same species. Research in this area has been hampered by differences in approach, terminology and methodology,
We investigated seven children from six families to expand the phenotypic spectrum associated with an early infantile epileptic encephalopathy caused by biallelic pathogenic variants in the phosphatidylinositol glycan anchor biosynthesis class Q (PIGQ) gene. The affected children were all identified by clinical or research exome sequencing. Clinical data, including EEGs and MRIs, was comprehensive
The Alzheimer's Association's Research Roundtable met in November 2017 to explore the new National Institute on Aging and the Alzheimer's Association Research Framework for Alzheimer's disease. The meeting allowed experts in the field from academia, industry, and government to provide perspectives on the new National Institute on Aging and the Alzheimer's Association Research Framework. This revie
In type 2 diabetes (T2D), hepatic insulin resistance is strongly associated with nonalcoholic fatty liver disease (NAFLD). In this study, we hypothesized that the DNA methylome of livers from patients with T2D compared with livers of individuals with normal plasma glucose levels can unveil some mechanism of hepatic insulin resistance that could link to NAFLD. Using DNA methylome and transcriptome
The activated B cell (ABC-like) subtype of diffuse large B cell lymphoma (DLBCL) is characterized by chronic activation of signaling initiated by immunoglobulin m (IgM). By analyzing the DNA copy number profiles of 1000 DLBCL tumors, we identified gains of 18q21.2 as the most frequent genetic alteration in ABC-like DLBCL. Using integrative analysis of matched gene expression profiling data, we fou
Background Hexavalent chromium (Cr(VI)) is a carcinogen. Exposure to Cr(VI) may occur in different industrial processes such as chrome plating and stainless steel welding. The aim of this study was to assess occupational exposure to Cr(VI) in Denmark. Methods This cross-sectional study included 28 workers and 8 apprentices with potential Cr(VI) exposure and 24 within company controls, all recruite
INTRODUCTION: The Alzheimer's Association and the Society of Nuclear Medicine and Molecular Imaging convened a multidisciplinary workgroup to update appropriate use criteria (AUC) for amyloid positron emission tomography (PET) and to develop AUC for tau PET. METHODS: The workgroup identified key research questions that guided a systematic literature review on clinical amyloid/tau PET. Building on
Background: The association between protein intake and prostate cancer risk remains unclear. Aims: To prospectively investigate the associations of dietary intakes of total protein, protein from different dietary sources, and amino acids with prostate cancer risk and mortality. Methods: In 131,425 men from the European Prospective Investigation into Cancer and Nutrition, protein and amino acid int
Numerous biological mechanisms contribute to outcome after stroke, including brain injury, inflammation, and repair mechanisms. Clinical genetic studies have the potential to discover biological mechanisms affecting stroke recovery in humans and identify intervention targets. Large sample sizes are needed to detect commonly occurring genetic variations related to stroke brain injury and recovery.
Leucine-rich repeat containing 15 (LRRC15) has emerged as an attractive biomarker and target for cancer therapy. Transforming growth factor-β (TGFβ) induces the expression of this plasma membrane protein specifically in aggressive and treatment resistant tumor cells derived from mesenchymal stem cells, with minimal expression observed in non-neoplastic tissues. We have developed a humanized monocl
Biologics targeting interleukin-4 receptor subunit α (IL-4Rα) and interleukin-33 (IL-33) have demonstrated clinical efficacy in asthma, highlighting the importance of IL-4, IL-13, and IL-33 in respiratory diseases. Despite this, few studies have linked preclinical models to human diseases or evaluated disease biology in clinical trials. To address these gaps, we evaluated transcriptional, cellular
The Alzheimer’s Association and the Society of Nuclear Medicine and Molecular Imaging convened a multidisciplinary workgroup to update appropriate use criteria (AUC) for amyloid positron emission tomography (PET) and to develop AUC for tau PET. Methods: The workgroup identified key research questions that guided a systematic literature review on clinical amyloid/tau PET. Building on this review, t
Background: Hypertension is the leading risk factor for cerebral small vessel disease. We aimed to determine whether antihypertensive drug classes differentially affect microvascular function in people with small vessel disease. Methods: We did a multicentre, open-label, randomised crossover trial with blinded endpoint assessment at five specialist centres in Europe. We included participants aged
FÖRSLAG TILL DISPOSITION 1 (15) UPPHOVSRÄTT – En översikt I denna översikt görs en genomgång av svensk upphovsrätt i allmänhet; vad och vem som skyddas av upphovsrätt, vilka rättigheter som omfattas och vilka inskränkningar som upphovsmannen får tåla, övergång av upphovsrätt och slutligen intrång i upphovsrätt. Endast den egentliga upphovsrätten, som ger skydd åt alster som kommer av ett andligt s
https://www.ub.lu.se/sites/ub.lu.se/files/upphovsraett_-_en_oeversikt.pdf - 2026-08-11
Nationella forskarskolan om åldrande och hälsa Verksamhetsberättelse 2021 CASE - Centre for Ageing and Supportive Environments Centre for Ageing and Supportive Environments Verksamhetsberättelse 2021 2 Omslagsfoto: K. Ruona. Omslagsbilden visar AnnMari Storm, medlem i CASE Brukarråd, som tillsammans med Susanne Iwarsson är i färd med att registrera data i appen för massexperimentet Bostadsförsöket
https://www.case.lu.se/sites/case.lu.se/files/2022-03/Verksamhetsbera%CC%88ttelse%20CASE%202021.pdf - 2026-08-11
