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The impact of low-frequency and rare variants on lipid levels.

Using a genome-wide screen of 9.6 million genetic variants achieved through 1000 Genomes Project imputation in 62,166 samples, we identify association to lipid traits in 93 loci, including 79 previously identified loci with new lead SNPs and 10 new loci, 15 loci with a low-frequency lead SNP and 10 loci with a missense lead SNP, and 2 loci with an accumulation of rare variants. In six loci, SNPs w

Nonablative neonatal bone marrow transplantation rapidly reverses severe murine osteopetrosis despite low level engraftment and lack of selective expansion of the osteoclastic lineage.

Infantile malignant osteopetrosis (IMO) is caused by lack of functional osteoclasts leading to skeletal abnormalities, blindness due to compression of the optic nerves, bone marrow (BM) failure and early death. In most patients TCIRG1, a proton pump subunit essential for bone resorption, is mutated. Oc/oc mice represent a model for IMO due to a deletion in Tcirg1 and die around 4 weeks. To determi

The impact of type 2 diabetes mellitus on cancer-specific survival: A follow-up study in sweden.

BACKGROUND: Earlier studies have suggested that type 2 diabetes mellitus (T2DM) alters the risk of developing a variety of cancers, but little has been known about the impact of T2DM on cancer prognosis. On the basis of nationwide population-based Swedish registries, the authors of this report compared the cause-specific survival among cancer patients with and without T2DM. METHODS: Patients with

Efficient Ablation of Genes in Human Hematopoietic Stem and Effector Cells using CRISPR/Cas9.

Genome editing via CRISPR/Cas9 has rapidly become the tool of choice by virtue of its efficacy and ease of use. However, CRISPR/Cas9-mediated genome editing in clinically relevant human somatic cells remains untested. Here, we report CRISPR/Cas9 targeting of two clinically relevant genes, B2M and CCR5, in primary human CD4(+) T cells and CD34(+) hematopoietic stem and progenitor cells (HSPCs). Use

Acinar ventilation heterogeneity in COPD relates to diffusion capacity, resistance and reactance.

The aim of this study was to investigate heterogenic ventilation in the acinar (Sacin) and conductive (Scond) airways of patients with varying chronic obstructive pulmonary disease (COPD) severity and how these relates to advanced lung function parameters, primarily measured by impulse oscillometry (IOS). A secondary aim was to investigate the effects of a short acting beta2-agonist and a muscarin

Emergence of NK cell progenitors and functionally competent NK cell lineage subsets in the early mouse embryo.

The earliest stages of natural killer (NK) cell development are not well characterized. In this study, we investigated in different fetal hematopoietic tissues how NK cell progenitors and their mature NK cell progeny emerge and expand during fetal development. Here we demonstrate, for the first time, that the counterpart of adult bone marrow Lin(-)CD122(+)NK1.1(-)DX5(-) NK cell progenitor (NKP) em

Association of overweight and elevation with chronic knee and low back pain: a cross-sectional study.

It is known that overweight is associated with chronic knee pain (CKP) and chronic low back pain (CLBP). Several risk factors for these conditions have been postulated, including age, sex, overweight, occupation, and socioeconomic factors. In addition, physical environment has been studied as a potential risk factor in recent years. However, the associations of overweight and physical environment

Self-Stabilized Heterometallic Pair Sites for Selective Ethanol Dehydrogenation on Pt–Cr–Ag Alloy Catalysts

Self-stabilized, heterometallic pair-sites can enable fine-tuning of catalytic functionality while also mitigating dynamic structural changes that degrade catalytic performance. This study demonstrates the development and characterization of trimetallic PtxCrxAg1-2x (x ≤ 0.1) alloys with active Pt–Cr pair-ensembles for non-oxidative ethanol dehydrogenation, leveraging predictions that favorable bo

First neutron characterisation of ESS instruments : Acceptance tests for detectors and preparation for commissioning and user operation

ESS, a European Research Infrastructure Consortium (ERIC), is getting ready to be a leading multidisciplinary facility with the world's most potent neutron source. Dedicated to scientific breakthroughs, ESS focuses on materials, energy, health, and environmental research to address key societal challenges. ESS will host 22 specialized scientific instruments selected to cover a broad range of exper

Association of Individual or Family History of Autoimmune Disease With Future Development of Type 1 Diabetes

Timely diagnosis of type 1 diabetes (T1D), especially in high-risk populations, is crucial for preventing serious health complications. T1D is a chronic progressive autoimmune disease that has presymptomatic stages that can be identified through the detection of islet autoantibodies. Given that T1D is associated with other autoimmune diseases, having either those diseases or a family history of th

The Major Outer Membrane Protein P5 Binds Vitronectin to Mediate Serum Resistance in Nontypeable Haemophilus influenzae

Acquisition of complement regulators is a virulence strategy used by nontypeable Haemophilus influenzae (NTHi) to evade complement-mediated killing by the host. The major outer membrane protein of NTHi, P5, binds C4b-binding protein and factor H to promote bacterial serum resistance. We show that P5 also binds vitronectin, which inhibits the formation of the membrane attack complex at the terminal

Spel på planen och i redovisningen Hur PSR påverkar fotbollsklubbars ekonomiska beteende

Titel: Spel på planen och i redovisningen Seminariedatum: 2026-01-14 Kurs: FEKH69, Examensarbete i redovisning på kandidatnivå, 15 HP Författare: Elias Haglund, Calle Johansson Lundqvist, Zebastian Öhlund Handledare: Johan Dergård Nyckelord: Profit and sustainability rules; Redovisningseffekter; Beteendeeffekter; Reglering Forskningsfrågor: Hur har PSR påverkat Premier League klubbarnas externa Title: Play on the pitch and in the accounts Seminar date: 2026-01-14 Course: FEKH69, Bachelor degree project in Accounting, undergraduate Level, 15 ECTS-Credits Authors: Elias Haglund, Calle Johansson Lundqvist, Zebastian Öhlund Advisor: Johan Dergård Key words: Profit and sustainability rules; Accounting effects; Behavioral effects; Regulations Research questions: How has PSR affected Premier Le

Socioeconomic inequalities of the hand infections pyogenic flexor tenosynovitis and septic arthritis and risk of opioid overuse following diagnosis : a registry-based nationwide retrospective cohort study in Sweden

Objectives To examine the associations between socioeconomic position (SEP) and the incidence of serious hand infections—pyogenic flexor tenosynovitis (PFT) and septic arthritis (SA)—as well as risks of opioid overuse following diagnosis using nation-level data. Design In a registry-based nationwide retrospective cohort study, (1) associations between SEP and incidence of PFT/SA; (2) SEP and infec

The LRRK2 p.L1795F variant causes Parkinson’s disease in the European population

LRRK2-PD represents the most common form of autosomal dominant Parkinson’s disease. We identified the LRRK2 p.L1795F variant in three families and six additional unrelated cases using genetic data from over 50,000 individuals. Carriers with available genotyping data shared a common haplotype. The clinical presentation resembles other LRRK2-PD forms. Combined with published functional evidence show

Exogenous Hormones, Tumor Intrinsic Subtypes, and Breast Cancer

Importance: Etiologic heterogeneity in breast carcinogenesis needs to be well characterized for targeted prevention. Associations between menopausal hormonal therapy (MHT) and oral contraceptive (OC) use and breast cancer intrinsic-like subtypes are not well understood. Objective: To examine whether exogenous hormone use is differentially associated with breast cancer subtypes and to evaluate hete