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It has become increasingly clear that several age-associated pathologies associate with mutations in the mitochondrial genome. Experimental modeling of such events has revealed that acquisition of mitochondrial DNA (mtDNA) damage can impair respiratory function and, as a consequence, can lead to widespread decline in cellular function. This includes premature aging syndromes. By taking advantage o

In the field of developmental biology, there is compelling evidence for a network of activity of pluripotency and stem-associated genes comprising of Oct4, Nanog and nestin. During neurogenesis, the choice between enhancement versus suppression of transcriptional modulation of these identified genes determines the balance between self-renewal neural stem cells (NSC) and immature neuronal phenotype

Oxygen-enhanced MRI (OE-MRI) biomarkers have potential value in assessment of COPD, but need further evaluation before treatment-induced changes can be interpreted. The objective was to evaluate how OE-MRI parameters of regional ventilation and oxygen uptake respond to standard pharmacological interventions in COPD, and how the response compares to that of gold standard pulmonary function tests.

Despite 3 decades of basic and clinical studies, there is still no dopaminergic cell therapy for Parkinson's disease. Several arguments have been put forward why this approach, so far tested with transplantation of human fetal mesencephalic dopamine-rich tissue, will never be of clinical use and should be abandoned: (1) Lack of efficacy in 2 sham surgery-controlled trials; (2) occurrence of troubl

Background: A growing number of individuals are diagnosed with hereditary cancer. Though increased levels of anxiety and depression have been demonstrated around the time of genetic counselling, most individuals handle life at increased risk well. Data have, however, been collected on individual basis, which led us to focus on family perspectives of hereditary cancer. Methods: Lynch syndrome repre

Abstract For nanotoxicology investigations of air-borne particles to provide relevant results it is ever so important that the particle exposure of, for example cells, closely resembles the "real" exposure situation, that the dosimetry is well defined, and that the characteristics of the deposited nanoparticles are known in detail. By synthesizing the particles in the gas-phase and directly deposi

The DIRECT (Diabetes Research on Patient Stratification) Study is part of a European Union Framework 7 Innovative Medicines Initiative project, a joint undertaking between four industry and 21 academic partners throughout Europe. The Consortium aims to discover and validate biomarkers that: (1) predict the rate of glycaemic deterioration before and after type 2 diabetes onset; (2) predict the resp

The risk of cancer in men from BRCA1 and BRCA2 families is relevant to define to motivate genetic testing and optimize recommendations for surveillance.

The Selvester QRS scoring system has previously been shown to enable estimation of myocardial infarct (MI) size by quantitative evaluation of the 12-lead ECG. The aim of this study was to assess the system's ability to detect and quantify lateral MI, using cardiac magnetic resonance (CMR) as reference standard.

Purpose: Lynch syndrome is caused by a germline mutation in a mismatch repair gene, most commonly the MLH1 gene. However, one third of the identified alterations are missense variants with unclear clinical significance. The functionality of these variants can be tested in the laboratory, but the results cannot be used for clinical diagnosis. We therefore aimed to establish a laboratory test that c

Neural stem/progenitor cells (NSPCs) in subventricular zone (SVZ) produce new striatal neurons during several months after stroke, which may contribute to recovery. Intracerebral grafts of NSPCs can exert beneficial effects after stroke through neuronal replacement, trophic actions, neuroprotection, and modulation of inflammation. Here we have explored whether human fetal striatum-derived NSPC-gra

MafA is a key transcriptional activator of islet beta cells and its exclusive expression within beta cells of the developing and adult pancreas is distinct amongst pancreatic regulators. Region 3 (base pairs -8118/-7750 relative to the transcription start site), one of six conserved 5' cis-domains of the MafA promoter, is capable of directing beta-cell-line-selective expression. Transgenic reporte

BACKGROUND: It is well established that parity and use of oral contraceptives reduce the risk of ovarian cancer, but the associations with other reproductive variables are less clear. METHODS: We examined the associations of oral contraceptive use and reproductive factors with ovarian cancer risk in the European Prospective Investigation into Cancer and Nutrition. Among 327 396 eligible women, 878

BACKGROUND: Metastatic propensity of soft tissue sarcoma (STS) is heterogeneous and may be determined by gene expression patterns that do not correlate well with morphology. The authors have reported gene expression patterns that distinguish 2 broad classes of clear cell renal carcinoma (ccRCC-gene set), and other patterns that can distinguish heterogeneity of serous ovarian carcinoma (OVCA-gene s

Founder mutations with a large impact in distinct populations have been described in Lynch syndrome. In Denmark, the MLH1 c.1667+2_1667_+8TAAATCAdelinsATTT mutation accounts for 25 % of the MLH1 mutant families. We used the national Danish hereditary nonpolyposis colorectal cancer register to estimate the cumulative lifetime risks for Lynch syndrome-associated cancer in 16 founder mutation familie

Background: The etiology of male breast cancer is poorly understood, partly due to its relative rarity. Although tobacco and alcohol exposures are known carcinogens, their association with male breast cancer risk remains ill-defined. Methods: The Male Breast Cancer Pooling Project consortium provided 2,378 cases and 51,959 controls for analysis from 10 case-control and 10 cohort studies. Individua

Popular Abstract in Swedish Denna avhandling är ett resultat av ett doktorandprojekt vid Kvartärgeologiska avdelningen, Lunds Universitet. Syftet med avhandlingen har varit att utröna huruvida bildningen av kalktuff i Sverige har varit beroende av klimatet samt under vilka tider och i vilken närmiljö tuffen bildats. I samband med under-sökningen har ett stort antal landsnäckor påträffats och analyAlthough deposition of freshwater calcium carbonates, tufa, has occurred in large areas with carbonate soil or bedrock in Sweden, no tufa formation has been observed in Sweden. To better understand the factors controlling tufa formation in southern Sweden, bio- and lithostratigraphical studies were carried out on (paludal) calcareous tufa deposits in the province of Skåne. The biostratigraphical m