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https://www.ses.lu.se/cecilia-fredriksson - 2026-09-15

https://www.real.lu.se/cecilia-fredriksson - 2026-09-15

https://www.mgeo.lu.se/thomas-holst - 2026-09-15

Structural variants (SVs) rearrange large segments of DNA1 and can have profound consequences in evolution and human disease2,3. As national biobanks, disease-association studies, and clinical genetic testing have grown increasingly reliant on genome sequencing, population references such as the Genome Aggregation Database (gnomAD)4 have become integral in the interpretation of single-nucleotide v

BACKGROUND: Dystonia is a rare movement disorder, in which patients suffer from involuntary twisting movements or abnormal posturing. Next to these motor symptoms, patients have a high prevalence of psychiatric comorbidity, suggesting a role for serotonin in its pathophysiology. This study investigates the percentage of DNA methylation of the gene encoding for the serotonin reuptake transporter (S

Dopamine D2 receptors (D2-R) in extrastriatal brain regions are of high interest for research in a wide range of psychiatric and neurologic disorders. Pharmacological competition studies and test-retest experiments have shown high validity and reliability of the positron emission tomography (PET) radioligand [11C]FLB 457 for D2-R quantification in extrastriatal brain regions. However, this radioli

Angiogenesis and increased permeability of the blood-brain barrier have been reported to occur in animal models of Parkinson's disease and l-dopa-induced dyskinesia, but the significance of these phenomena has remained unclear. Using a validated rat model of l-dopa-induced dyskinesia, this study demonstrates that chronic treatment with l-dopa dose dependently induces the expression of vascular end

Characteristics of nanoscale materials are often different from the corresponding bulk properties providing new, sometimes unexpected, opportunities for applications. Here we investigate the properties of 8 nm colloidal nanoparticles of MAPbBr3 perovskites and contrast them to the ones of large microcrystallites representing a bulk. X-ray spectroscopies provide an exciton binding energy of 0.32 ±

Aim Increased concentration of nitric oxide (NO) metabolites, nitrite and nitrate, in the urine is a strong indication of ongoing small intestinal, inflammation, which is a hallmark of the enteropathy of celiac disease (CD). It has previously been shown that children with symptomatic, untreated CD have increased levels of NO oxidation products in their urine. The aim of the present study was to in

Innate host defense mechanisms at epithelial surfaces are important to prevent bacterial invasion. Streptococcus pyogenes, group A streptococcus (GAS), has an affinity for epithelial cells and cause pharyngitis. During streptococcal pharyngitis, high concentrations of the chemokines CXCL9/MIG, CXCL10/IP-10, CXCL11/I-TAC were found in tonsil fluid. Similarly, these chemokines were produced by activ

Nuclear orphan receptor TLX (Drosophila tailless homolog) is essential for the maintenance of neural stem/progenitor cell self-renewal, but its role in neuroblastoma (NB) is not well understood. Here, we show that TLX is essential for the formation of tumor spheres in three different NB cell lines, when grown in neural stem cell media. We demonstrate that the knock down of TLX in IMR-32 cells dimi

We present a new approach for the accurate reconstruction of three-dimensional skeletal positions using roentgen single-plane photogrammetric analysis (RSPA). This technique uses a minimum of three markers embedded in each segment which allow continuous, real-time, internal skeletal movement to be measured from single-plane images, provided that the precise distance between the markers is known. A

The role of androgens for bone health in elderly men is unclear. We show that free testosterone within the normal range is a predictor of BMD at predominantly cortical bone sites and of previous osteoporosis-related fractures in elderly Swedish men. Introduction: Osteoporosis-related fractures constitute a major health concern not only in women but also in men. Previous studies have clearly shown

BACKGROUND. Today, intensive therapy that includes high-close melphalan with autologous stein cell transplantation (ASCT) is considered standard therapy in younger patients with newly diagnosed myeloma. When the current trial was initiated, combined vincristine, doxorubicin, and dexamethasone (VAD) was the most commonly used induction therapy before ASCT and yielded rapid major responses without i

Inherited breast cancer is a heterogenous group of diseases. We examined this heterogeneity in a prospective series of inherited breast and ovarian cancers, previously demonstrated to include 84% of inherited cancers. Ninety-two tumours (65 breast and 27 ovarian) in 82 patients from 70 kindreds were prospectively diagnosed. Fifteen of the breast cancers were in situ, 50 were infiltrating. 40 (49%)

AIMS/HYPOTHESIS: To analyse the incidence of Type I (insulin-dependent) diabetes mellitus in the 0-34 years age group in Sweden 1983-1998. METHODS: Incidence and cumulative incidence per 100 000 and Poisson regression analysis of age-period effects was carried out using 11 751 cases from two nation-wide prospective registers. RESULTS: Incidence (95%-CI) was 21.4 (20.8-21.9) in men and 17.1 (16.6-1

Popular Abstract in Swedish Bakgrund Streptococcus pyogenes, eller grupp A streptokocker, är en av de vanligaste sjukdomsframkallande bakterierna hos människan. De orsakar ofta relativt harmlösa och lättbehandlade ytliga infektioner i hals (halsfluss) och hud (svinkoppor) men kan också ge djupare och livshotande infektioner. Dessutom förekommer följdsjukdomar efter infektioner med grupp A streptoPathogenic bacteria often produce potent proteases capable of destroying host tissue thereby providing the bacteria with tools for spreading and nutrient access. This thesis describes how group A, C and G streptococci can acquire surface bound protease activity through an alternative mechanism, namely by binding and activation of the human protease precursor plasminogen. Group A streptococci of c

No consensus treatment regime exists beyond surgery for malignant peripheral nerve sheath tumours (MPNST), and the purpose of the present study was to find new approaches to stratify patients with good and poor prognosis and to better guide therapeutic intervention for this aggressive soft tissue cancer. From a total of 67 MPNSTs from Scandinavian patients with and without neurofibromatosis type 1