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Fletta eftir efnisorði "Gen"
Atriði 1-20 af 23
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(American Medical Association (AMA), 2020-06-01)Importance: Aortic stenosis (AS) has no approved medical treatment. Identifying etiological pathways for AS could identify pharmacological targets. Objective: To identify novel genetic loci and pathways associated with AS. Design, Setting, and Participants: ... -
(MDPI AG, 2019-11-01)Mutations in BRCA1 result in predisposal to breast and ovarian cancers, but many variants exist with unknown clinical significance (VUS). One is BRCA1 c.4096+3A>G, which affects production of the full-length BRCA1 transcript, while augmenting transcripts ...
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(Springer Science and Business Media LLC, 2018-10-03)Carriers of large recurrent copy number variants (CNVs) have a higher risk of developing neurodevelopmental disorders. The 16p11.2 distal CNV predisposes carriers to e.g., autism spectrum disorder and schizophrenia. We compared subcortical brain volumes ...
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(Springer Science and Business Media LLC, 2020-01-20)Asthma is one of the most common chronic diseases affecting both children and adults. We report a genome-wide association meta-analysis of 69,189 cases and 702,199 controls from Iceland and UK biobank. We find 88 asthma risk variants at 56 loci, 19 ...
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(University of Iceland, School of Health Sciences, Faculty of Medicine, 2019-05)The DNA damage response is crucial to maintaining the integrity of DNA and the health of a cell. Unrepaired lesions within the DNA can lead to genomic instability and potentially aid in the formation of diseases such as cancer. Some cancers possess ...
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Exome-chip meta-analysis identifies novel loci associated with cardiac conduction, including ADAMTS6 (Springer Science and Business Media LLC, 2018-07-17)Background: Genome-wide association studies conducted on QRS duration, an electrocardiographic measurement associated with heart failure and sudden cardiac death, have led to novel biological insights into cardiac function. However, the variants ...
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(University of Iceland, School of Health Sciences, Faculty of Medicine, 2018)Brjóstkirtillinn er myndaður af greinóttum kirtilgöngum sem umluktir eru æðaþelsríkum bandvef. Brjóstakrabbamein á upptök í kirtilþekjufrumum í endum kirtilganga. Brjóstakrabbameinsfrumur nýta sér ferli sem kallast bandvefsumbreyting þekjuvefjar til ...
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(Acta Universitatis Upsaliensis, 2009)The interferon regulatory factor 5 (IRF5) gene encodes a transcription factor that plays an important role in the innate as well as in the cell-mediated immune response. The IRF5 gene has received considerable attention since it was shown to be associated ...
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(University of Iceland, School of Engineering and Natural Sciences, Faculty of Life and Environmental Sciences, 2019-01-30)Intraspecific variation in egg size and its effects on offspring fitness is well documented in fishes. Yet whether or not differential per propagule maternal investment (egg size) can influence phenotypic diversification is little understood. Arctic ...
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(Elsevier BV, 2019-12)Background: Mutations in BRCA2 cause a higher risk of early-onset aggressive prostate cancer (PrCa). The IMPACT study is evaluating targeted PrCa screening using prostate-specific-antigen (PSA) in men with germline BRCA1/2 mutations. Objective: To ...
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(Elsevier BV, 2019-12-17)Background: Lipoprotein(a) [Lp(a)] is a causal risk factor for cardiovascular diseases that has no established therapy. The attribute of Lp(a) that affects cardiovascular risk is not established. Low levels of Lp(a) have been associated with type 2 ...
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(The Company of Biologists, 2015-06-19)The v-ATPase is a fundamental eukaryotic enzyme that is central to cellular homeostasis. Although its impact on key metabolic regulators such as TORC1 is well documented, our knowledge of mechanisms that regulate v-ATPase activity is limited. Here, we ...
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(Society for Neuroscience, 2020-03)Neuroplasticity forms the basis for neuronal circuit complexity and differences between otherwise similar circuits. We show that the microphthalmia-associated transcription factor (Mitf) plays a central role in intrinsic plasticity of olfactory bulb ...
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(Springer Science and Business Media LLC, 2020-03-11)Dysregulated cholesterol homeostasis promotes the pathology of atherosclerosis, myocardial infarction and strokes. Cellular cholesterol is mainly regulated at the transcriptional level by SREBP2, but also through uptake of extracellular cholesterol ...
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(Dove Medical Press Ltd., 2018-10)Purpose: Dietary macronutrient composition, stearoyl-CoA desaturase (SCD) activity indices, and primary bile acid (BA) concentrations are among the factors that have been associated with lipid metabolism and contributed to obesity. We investigated the ...
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(Wiley-Blackwell, 2017-03-31)The Purple Sandpiper (Calidris maritima) is a medium-sized shorebird that breeds in the Arctic and winters along northern Atlantic coastlines. Migration routes and affiliations between breeding grounds and wintering grounds are incompletely understood. ...
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(Springer Science and Business Media LLC, 2020-04-23)Hemoglobin is the essential oxygen-carrying molecule in humans and is regulated by cellular iron and oxygen sensing mechanisms. To search for novel variants associated with hemoglobin concentration, we performed genome-wide association studies of ...
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(Oxford University Press (OUP), 2018-03-27)Aims Scavenger receptor Class B Type 1 (SR-BI) is a major receptor for high-density lipoprotein (HDL) that promotes hepatic uptake of cholesterol from HDL. A rare mutation p.P376L, in the gene encoding SR-BI, SCARB1, was recently reported to associate ...
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(Elsevier BV, 2019-04-01)Background: The 15q11.2 BP1-BP2 cytogenetic region has been associated with learning and motor delays, autism, and schizophrenia. This region includes a gene that codes for the cytoplasmic FMR1 interacting protein 1 (CYFIP1). The CYFIP1 protein is ...
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(Uniwersytet Jagiellonski - Wydawnictwo Uniwersytetu Jagiellonskiego, 2018)We isolated an encysted ciliate from a geothermal field in Iceland. The morphological features of this isolate fit the descriptions of Dexiotricha colpidiopsis (Kahl, 1926) Jankowski, 1964 very well. These comprise body shape and size in vivo, the ...
Atriði 1-20 af 23