Search results for "SHIFT"
showing 10 items of 1226 documents
Transcription of the MAT2A gene, coding for methionine adenosyltransferase, is up-regulated by E2F and Sp1 at a chromatin level during proliferation …
2006
Methionine adenosyltransferase (MAT) is an essential enzyme because it catalyzes the formation of S-adenosylmethionine, the main methyl donor. Two MAT-encoding genes (MAT1A, MAT2A) are found in mammals. The latter is expressed in proliferating liver, dedifferentiation and cancer, whereas MAT1A is expressed in adult quiescent hepatocytes. Here, we report studies on the molecular mechanisms controlling the induction of MAT2A in regenerating rat liver and in proliferating hepatocytes. The MAT2A is up-regulated at two discrete moments during liver regeneration, as confirmed by RNApol-ChIP analysis. The first one coincides with hepatocyte priming (i.e. G0-G1 transition), while the second one tak…
SPG10 is a rare cause of spastic paraplegia in European families.
2008
Contains fulltext : 71099.pdf (Publisher’s version ) (Closed access) BACKGROUND: SPG10 is an autosomal dominant form of hereditary spastic paraplegia (HSP), which is caused by mutations in the neural kinesin heavy chain KIF5A gene, the neuronal motor of fast anterograde axonal transport. Only four mutations have been identified to date. OBJECTIVE: To determine the frequency of SPG10 in European families with HSP and to specify the SPG10 phenotype. PATIENTS AND METHODS: 80 index patients from families with autosomal dominant HSP were investigated for SPG10 mutations by direct sequencing of the KIF5A motor domain. Additionally, the whole gene was sequenced in 20 of these families. RESULTS: Th…
Attenuation of disease phenotype through alternative translation initiation in low-penetrance retinoblastoma
2006
Hereditary predisposition to retinoblastoma (RB) is caused by germline mutations in the retinoblastoma 1 (RB1) gene and transmits as an autosomal dominant trait. In the majority of cases disease develops in greater than 90% of carriers. However, reduced penetrance with a large portion of disease-free carrier is seen in some families. Unambiguous identification of the predisposing mutation in these families is important for accurate risk prediction in relatives and their genetic counseling but also provides conceptual information regarding the relationship between the RB1 genotype and the disease phenotype. In this study we report a novel mutation detected in 10 individuals of an extended fa…
H-ficolin (ficolin-3) concentrations and FCN3 gene polymorphism in neonates
2011
Serum H-ficolin (ficolin-3) concentrations (n=613) and FCN3 genotypes (n=529) from a large group of neonates are presented. Both pre-term deliveries and low birthweight (independently of gestational age) were significantly associated with low H-ficolin concentrations but not with heterozygosity for the FCN3 1637delC frameshift mutation. The presence of the variant allele, however, apparently influenced the protein level. No association of FCN3 gene heterozygosity or relative functional H-ficolin insufficiency (determined as serum level ≤8.6 μg/ml) with perinatal infections was found. One premature newborn, with confirmed infection caused by Streptococcus agalactiae, was H-ficolin-deficient …
Differential regulation of interleukin-10 production by genetic and environmental factors – a twin study
2002
Interleukin-10 (IL-10) has a critical role in the regulation of immune responses. The relative contribution of genetic and environmental factors to IL-10 production is under debate. We performed a twin study in 246 monozygotic and dizygotic twins to assess the heritability of IL-10 production after LPS stimulation in whole blood. In addition, the influence of promoter single nucleotide polymorphisms (-1082, -819 and -592) on transcriptional activity and their binding to nuclear factors was studied in luciferase reporter gene and electrophoretic mobility shift assays. IL-10 production showed a genetic determination with a heritability of 0.5. Decreasing body mass index (BMI), smoking and fem…
Trajectories of mobility limitations over 24 years and their characterization by shift work and leisure-time physical activity in midlife.
2019
Abstract Background We aimed to investigate trajectories of mobility limitations (MLs) over a period of 24 years. In addition, we aimed to study how shift work and leisure-time physical activity (LTPA) in midlife predict assignment to MLs trajectories separately for those retired on statutory pensions (SPs) and on disability pensions (DPs). Methods Subjects who responded MLs questionnaires (1985–2009, N = 3048) in Finnish Longitudinal Study on Aging Municipal Employees were included in this prospective cohort study. LTPA and shift work were measured during baseline. International Classification of Functioning was used to code MLs. Growth mixture modeling was used to identify the trajectorie…
Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15.
2019
Abstract N-alpha-acetylation is one of the most common co-translational protein modifications in humans and is essential for normal cell function. NAA10 encodes for the enzyme NAA10, which is the catalytic subunit in the N-terminal acetyltransferase A (NatA) complex. The auxiliary and regulatory subunits of the NatA complex are NAA15 and Huntington-interacting protein (HYPK), respectively. Through a genotype-first approach with exome sequencing, we identified and phenotypically characterized 30 individuals from 30 unrelated families with 17 different de novo or inherited, dominantly acting missense variants in NAA10 or NAA15. Clinical features of affected individuals include variable levels…
Collaborative roles of Temporoparietal Junction and Dorsolateral Prefrontal Cortex in Different Types of Behavioural Flexibility
2017
AbstractBehavioural flexibility is essential for everyday life. This involves shifting attention between different perspectives. Previous studies suggest that flexibility is mainly subserved by the dorsolateral prefrontal cortex (DLPFC). However, although rarely emphasized, the temporoparietal junction (TPJ) is frequently recruited during flexible behaviour. A crucial question is whether TPJ plays a role in different types of flexibility, compared to its limited role in perceptual flexibility. We hypothesized that TPJ activity during diverse flexibility tasks plays a common role in stimulus-driven attention-shifting, thereby contributing to different types of flexibility, and thus the colla…
Management of intracranial hemorrhage in adult patients on extracorporeal membrane oxygenation (ECMO): An observational cohort study.
2017
Background Intracranial hemorrhage (ICH) is a common complication in adults treated with extracorporeal membrane oxygenation (ECMO). The aim of this study was to identify predictors of outcome and investigate intervention strategies following ICH development in ECMO-treated adult patients. Methods We conducted a retrospective review of adult patients (≥18 years) who developed an ICH during ECMO treatment at the Karolinska University Hospital (Stockholm, Sweden) between September 2005 and May 2017. Outcome was assessed by 30-day mortality and Glasgow Outcome Scale (GOS) after 6 months. The statistical analysis was supplemented by a case series of patients who were surgically treated for an I…
Psychosocial work factors and sickness absence in 31 countries in Europe
2013
International audience; Background: The studies on the associations between psychosocial work factors and sickness absence have rarely included a large number of factors and European data. The objective was to examine the associations between a large set of psychosocial work factors following well-known and emergent concepts and sickness absence in Europe. Methods: The study population consisted of 14 881 male and 14 799 female workers in 31 countries from the 2005 European Working Conditions Survey. Psychosocial work factors included the following: decision latitude, psychological demands, social support, physical violence, sexual harassment, discrimination, bullying, long working hours, s…