Browsing Faculty of Medicine by Title
Now showing items 3339-3358 of 8853
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Functional analyses of BRCA1 variants of unknown significance found in hereditary breast or ovarian cancer families in Norway: A tool for improved diagnosis
(Doctoral thesis, 2023-03-21)Tumorsuppressorgenet BRCA1 speler mange viktige roller for å hindre tumorutvikling, og endringar i BRCA1-genet er ei av hovudårsakene til arveleg bryst- og eggstokk-kreft (HBOC). I artikkel I vart det laga ei oversikt over ... -
Functional Analyses of Rare Germline Missense BRCA1 Variants Located within and outside Protein Domains with Known Functions
(Journal article; Peer reviewed, 2023-01-19)The BRCA1 protein is implicated in numerous important cellular processes to prevent genomic instability and tumorigenesis, and pathogenic germline variants predispose carriers to hereditary breast and ovarian cancer (HBOC). ... -
Functional analysis of tilS homologues in Bacteria and Archaea
(Master thesis, 2005-09-09)Out of all of the microorganisms sequenced so far about one third of the genes have unknown function. Several studies have shown that information on evolutionary relationships between unknown genes can aid in the prediction ... -
Functional and animal studies of short-chain 3-hydroxyacyl-CoA dehydrogenase (SCHAD), a fatty acid beta-oxidation enzyme involved in congenital hyperinsulinism of infancy
(Doctoral thesis, 2021-02-16)Short-chain 3-hydroxyacyl-CoA dehydrogenase (SCHAD) is a mitochondrial enzyme involved in fatty acid β-oxidation and the regulation of β-cell insulin secretion. Its role in insulin secretion became apparent in 2001 when ... -
Functional and Binding H1N1pdm09-Specific Antibody Responses in Occasionally and Repeatedly Vaccinated Healthcare Workers: A Five-Year Study (2009-2014)
(Journal article; Peer reviewed, 2021)Background: In 2009, a novel influenza A/H1N1pdm09 emerged and caused a pandemic. This strain continued to circulate and was therefore included in the seasonal vaccines up to the 2016/2017-season. This provided a unique ... -
Functional and Prognostic Role of MicroRNAs in Cancer Associated Fibroblasts and Stroma in Oral Squamous Cell Carcinoma
(Doctoral thesis, 2023-11-23)Nyere studier har vist at forandringer i bindevevscellene som omgir kreftsvulsten er viktige for utviklingen av munnhulekreft. Kreft stroma kan regulere fenotypen av kreftcellene, og på den måten kan påvirke klinisk forløpet ... -
Functional characterization of all-trans retinoic acid-induced differentiation factor (ATRAID)
(Journal article; Peer reviewed, 2023)All-trans retinoic acid-induced differentiation (ATRAID) factor was first identified in HL60 cells. Several mRNA isoforms exist, but the respective proteins have not been fully characterized. In transfected cells expressing ... -
Functional characterization of genetic risk factors in autoimmune Addison’s disease
(Doctoral thesis, 2020-10-23)Autoimmune diseases occur when the immune system attacks and damages the body’s own tissue. Why people develop these diseases, and how the autoimmune reaction develops are unanswered questions. Autoimmune Addison's disease ... -
Functional evaluation and work participation in health care workers with musculoskeletal disorders
(Doctoral thesis, 2016-06-22)Background: In Norway and other western countries, musculoskeletal disorders (MSDs) are the most frequent reasons for sick leave and disability pensions, and particularly employees in the health and social sector have a ... -
Functional evaluation of 16 SCHAD missense variants: Only amino acid substitutions causing congenital hyperinsulinism of infancy lead to loss-of-function phenotypes in vitro
(Journal article; Peer reviewed, 2021)Short‐chain 3‐hydroxyacyl‐CoA dehydrogenase (SCHAD), encoded by the HADH gene, is a ubiquitously expressed mitochondrial enzyme involved in fatty acid oxidation. This protein also plays a role in insulin secretion as ... -
Functional Gastrointestinal Disorders following Giardia infection : Visceral hypersensitivity and low-grade inflammation
(Doctoral thesis, 2020-10-20)Background: Giardia lamblia is a non-invasive protozoan parasite, infecting mainly the upper small intestine. It is the most common cause of waterborne outbreaks of diarrhea in an endemic country. The first registered ... -
Functional imaging to promote individualized and targeted therapy in endometrial cancer
(Doctoral thesis, 2016-02-05)Background: Endometrial carcinoma is the most common pelvic malignancy in the Western world and the incidence is increasing. Endometrial carcinomas are surgically staged according to FIGO 2009 criteria, and the lack of ... -
Functional level after Traumatic Brain Injury
(Doctoral thesis, 2012-02-03)Objectives: The objectives of the thesis were to describe the functional level (papers I and II) and self awareness of functional deficits (paper III) after moderate and severe Traumatic Brain Injury (TBI), and to evaluate ... -
Functional Level During the First Year After Moderate and Severe Traumatic Brain Injury: Course and Predictors of Outcome
(Peer reviewed; Journal article, 2011-06)Background: The objective of this study was to describe the functional level during the first year after moderate and severe traumatic brain injury (TBI), and to evaluate the predictive impact of pre-injury and injury-related ... -
Functional MRI, structural MRI and school performance in extremely preterm/extremely low birth weight children
(Doctoral thesis, 2013-11-22)Purpose: Numbers of extremely preterm (EPT) children who survive is steadily increasing, and the majority of these children are in need of help at school. The purpose of this regional, clinical controlled cohort study was ... -
Functional NMDA receptors are expressed by both AII and A17 amacrine cells in the rod pathway of the mammalian retina
(Journal article, 2016-01)At many glutamatergic synapses, non-N-methyl-d-aspartate (NMDA) and NMDA receptors are coexpressed postsynaptically. In the mammalian retina, glutamatergic rod bipolar cells are presynaptic to two rod amacrine cells (AII ... -
Functional outcomes associated with varying levels of targeted temperature management after out-of-hospital cardiac arrest ? An INTCAR2 registry analysis
(Peer reviewed; Journal article, 2020)Introduction: Targeted temperature management (TTM) after out-of-hospital cardiac arrest (OHCA) has been recommended in international guidelines since 2005. The TTM-trial published in 2013 showed no difference in survival ... -
Functional p53 is required for rapid restoration of daunorubicin-induced lesions of the spleen
(Peer reviewed; Journal article, 2013-07-11)Background: The tumour suppressor and transcription factor p53 is a major determinant of the therapeutic response to anthracyclines. In healthy tissue, p53 is also considered pivotal for side effects of anthracycline ... -
Functional properties of GABAA receptors of AII amacrine cells of the rat retina
(Journal article, 2023-04-05)Amacrine cells are a highly diverse group of inhibitory retinal interneurons that sculpt the responses of bipolar cells, ganglion cells, and other amacrine cells. They integrate excitatory inputs from bipolar cells and ... -
A Functional Role of GAS6/TAM in Nonalcoholic Steatohepatitis Progression Implicates AXL as Therapeutic Target
(Peer reviewed; Journal article, 2019)Background and Aims GAS6 signaling, through the TAM receptor tyrosine kinases AXL and MERTK, participates in chronic liver pathologies. Here, we addressed GAS6/TAM involvement in Non-Alcoholic SteatoHepatitis (NASH) ...