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Ichthyoses are a clinically and genetically heterogeneous group of genodermatoses associated with abnormal scaling of the skin over the whole body. Mutations in nine genes are known to cause non-syndromic forms of autosomal-recessive congenital ichthyosis (ARCI). However, not all genetic causes for ARCI have been discovered to date. Using whole-exome sequencing (WES) and multigene panel screening,
The environmental effects of brine discharge in the Arabian/Persian Gulf have been assessed. The Arabic Gulf is a wide and shallow system having a horizontal shear dominance. The management choice of mixing brine with wastewater to reduce the salt content in the discharge has also been considered. Approximately 90% of the area around the Arabian Gulf has been compared with the world data for desal
Bipolar disorder has long been associated with increased risks for suicidality; though factors associated with dying by suicide remain obscure. Here, we retrospectively examine the associations between the different phases of bipolar illness and other common comorbidities with death by suicide in the 120 days following each discharge for Swedes first admitted as inpatients for bipolar disorder dur
Human genetic variants predicted to cause loss-of-function of protein-coding genes (pLoF variants) provide natural in vivo models of human gene inactivation and can be valuable indicators of gene function and the potential toxicity of therapeutic inhibitors targeting these genes1,2. Gain-of-kinase-function variants in LRRK2 are known to significantly increase the risk of Parkinson’s disease3,4, su
Context. The HR 1614 is an overdensity in velocity space and has for a long time been known as an old (2 Gyr) and metal-rich ([Fe=H] +0:2) nearby moving group that has a dissolving open cluster origin. The existence of such old and metal-rich groups in the solar vicinity is quite unexpected since the vast majority of nearby moving groups are known to be young. Aims. In the light of new and signifi
Opsin proteins are essential molecules in mediating the ability of animals to detect and use light for diverse biological functions. Therefore, understanding the evolutionary history of opsins is key to understanding the evolution of light detection and photoreception in animals. As genomic data have appeared and rapidly expanded in quantity, it has become possible to analyse opsins that functiona
Embedded computer systems are subject to a multitude of requirements. These include real-time requirements, that is, such computers must respond to external events within limited time. Many systems, such as satellites and telephone switches, must also operate unattended for long periods of time. They must not fail due to defective software. Modern object-oriented programming languages, particular
Exacerbations present a major clinical problem in many patients suffering from COPD. Roflumilast, an inhibitor of phosphodiesterase 4, has beneficial effects in several clinical trials and is currently widely used to prevent exacerbations in severe COPD. Roflumilast has anti-inflammatory properties that may interfere with potentially important host defense functions, including cytotoxic properties
BACKGROUND: The 1061delC single-nucleotide polymorphism (SNP) has been reported mostly in the context of the common A(2)[A201] allele and typically produces an A(2) phenotype. This study evaluated new A(weak) alleles, each containing 1061delC. STUDY DESIGN AND METHODS: Twenty samples were referred to our laboratory for analysis due to suspected A(weak) phenotypes originally detected at the referri
Popular Abstract in Swedish TARMENS UPPTAG AV GALAKTOLIPIDER Världens vanligaste fettmolekyler Inuti cellerna hos alla växter finns en komponent som kallas kloroplast. I kloroplasten sker den livsviktiga fotosyntesen där energi från solljuset omvandlar koldioxid och vatten till socker och syre. Inuti kloroplasten finns en stor mängd membraner som kan liknas vid en bunt platta säckar. Genom dessa Galactolipids: digalactosyldiglyceride (DGalDG), monogalactosyldiglyceride (MGalDG) and sulfoquinovosyldiglyceride (SQDG) are the major lipid components in thylakoid membranes of chloroplasts i.e. the site of photosynthesis in plants. They are the most abundant membrane lipids in nature, and thus important sources of essential fatty acids for herbivores and omnivores. This thesis investigates the
Serglycin is a proteoglycan expressed by some malignant cells. It promotes metastasis and protects some tumor cells from complement system attack. In the present study, we show for the first time the in situ expression of serglycin by breast cancer cells by immunohistochemistry in patients' material. Moreover, we demonstrate high expression and constitutive secretion of serglycin in the aggressive
Här behandlas Sveriges förbindelser med andra politisk-territoriella enheter, frånmedeltidens dynastiska unioner över de tidigmoderna konglomeratstaterna till1800-talets union av två nationalstater. Med hjälp av befintlig forskning fokuserasstatens växlande sammansättning och vikten av att skilja mellan riket och staten.Ett sådant perspektiv visar nya aspekter och ställer frågor som ett traditioneDuring most of the period from 1319 to 1905, the kingdom of Sweden formed part of a larger state, either through union with other states or through the possession of provinces that were not part of the kingdom proper. This is a neglected theme in Swedish historiography, where Sweden is described as a trans-historical entity, sometimes larger and sometimes smaller than the present state but still b
Amelogenin is an extracellular protein first identified as a matrix component important for formation of dental enamel during tooth development. Lately, amelogenin has also been found to have positive effects on clinical important areas, such as treatment of periodontal defects, wound healing, and bone regeneration. Here we present a simple method for purification of recombinant human amelogenin e
The Palaeocene arctic supported a vegetation type quite distinct from the tundra and polar desert of today. Here we demonstrate, through the palynological record, the structure of this extinct vegetation and its dynamics over this period. The Late Palaeocene coal-bearing units of the Sagwon Bluffs on Alaska's North Slope (present latitude 69 degrees N) are predominantly fine-grained, non-marine an
Written submissions or comments as a response on an EIS (Environmental Impact Statement) rank as one of the most common forms of public participation. Within public participation research there appears to be an international dearth of knowledge concerning such written submissions. The possible impact of such responses on an EIS is - with few exceptions - seldom put in focus. The aim in the present
Introduced species are interesting systems for the study of contemporary evolution in new environments because of their spatial and temporal scales. For this study we had three aims: (i) to determine how genetic diversity and genetic differentiation of introduced populations of the house sparrow (Passer domesticus) in Brazil varies with range expansion, (ii) to determine how genetic diversity and
Objective To investigate the association between caesarean section and later endometriosis. Design A prospective cohort study. Setting The Swedish Patient Register (PAR) and the Swedish Medical Birth Registry (MBR). Sample Women who were delivered in Sweden between 1986 and 2004. Methods Women with the diagnosis of endometriosis, defined as codes 617 (International Classification of Diseases, nint
Background: Since the burden of care for elderly patients with heart failure (HF) can be decreased by therapeutic measures, it is important that such patients are identified correctly. This study explores the prevalence of HF in nursing homes in Sweden, with special consideration of the risk of failure to diagnose HF in the study population. A second aim is to explore medication and the adherence
