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Fletta eftir efnisorði "Stökkbreytingar"

Fletta eftir efnisorði "Stökkbreytingar"

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    Chemical Mutagenesis and Fluorescence-Based High-Throughput Screening for Enhanced Accumulation of Carotenoids in a Model Marine Diatom Phaeodactylum tricornutum 
    Yi, Zhiqian; Su, Yixi; Xu, Maonian; Bergmann, Andreas; Ingþórsson, Sævar; Rolfsson, Óttar; Salehi-Ashtiani, Kourosh; Brynjolfsson, Sigurdur; Fu, Weiqi (MDPI AG, 2018-08-04)
    Diatoms are a major group of unicellular algae that are rich in lipids and carotenoids. However, sustained research efforts are needed to improve the strain performance for high product yields towards commercialization. In this study, we generated a ...
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    Dissecting the regulatory role for a MUC5B polymorphism involved in Idiopathic Pulmonary Fibrosis 
    Armesto Jimenez, Amaranta (University of Iceland, School of Health Sciences, Faculty of Medicine, 2018-08-17)
    Idiopathic pulmonary fibrosis is a severe lung disease with unknown aetiology. The lifespan is approximately 3 to 5 years after diagnosis, and the treatments available such as lung transplant are high risk and are not suitable for all patients. In ...
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    Epigenetic insights into the mammalian mild hypothermia response 
    Rafnsdóttir, Salvör (University of Iceland, School of Health Sciences, Faculty of Medicine, 2024-04-05)
    Þekkt er að kæling frumna (32-36°C) eykur tjáningu fáeinna þekktra gena. Margt er á huldu um þá innanfrumu- og millifrumuferla sem kæling snertir við og kallaðir hafa verið kælisvarið. Kæling er notuð í læknisfræðilegum tilgangi til að fá fram ...
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    The microphthalmia-associated transcription factor (Mitf) gene and its role in regulating eye function 
    García-Llorca, Andrea; Gudmundsdottir Aspelund, Snaefridur; Ogmundsdottir, Margret H; Steingrimsson, Eirikur; Eysteinsson, Thor (Springer Science and Business Media LLC, 2019-10-28)
    Mutations in the microphthalmia-associated transcription factor (Mitf) gene can cause retinal pigment epithelium (RPE) and retinal dysfunction and degeneration. We examined retinal and RPE structure and function in 3 month old mice homo- or heterozygous ...
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    Microsatellites; genotyping, mutation rate and effect on disease 
    Kristmundsdóttir, Snædís (2022-06)
    Microsatellites are polymorphic tracts of short tandem repeats (STRs) with one to six base-pair (bp) motifs and account for around 3% of the human genome. Just like copying by hand a text where the same word occurs many times in a row, the replication of ...
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    PINK1 regulated mitophagy is evident in skeletal muscles 
    Singh, Francois; Wilhelm, Lea; Prescott, Alan R.; Ostacolo, Kevin; Zhao, Jin-Feng; Ogmundsdottir, Margret H.; Ganley, Ian G. (Informa, 2024-03-11)
    PINK1, mutated in familial forms of Parkinson’s disease, initiates mitophagy following mitochondrial depolarization. However, it is difficult to monitor this pathway physiologically in mice as loss of PINK1 does not alter basal mitophagy levels in most ...
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    Rare SCARB1 mutations associate with high-density lipoprotein cholesterol but not with coronary artery disease 
    Helgadottir, Anna; sulem, patrick; Thorgeirsson, Gudmundur; Grétarsdóttir, Sólveig; Thorleifsson, Gudmar; Jensson, Brynjar Örn; Arnadottir, Gudny; Olafsson, Isleifur; Eyjólfsson, Guðmundur I.; Sigurdardottir, Olof; Thorsteinsdottir, Unnur; Gudbjartsson, Daniel; Holm, Hilma; Stefansson, Kari (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 ...