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Browsing by Subject "Phenotype"

Browsing by Subject "Phenotype"

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    Characteristics of white blood cell count in acute lymphoblastic leukemia : A COST LEGEND phenotype-genotype study 
    Helenius, Marianne; Vaitkeviciene, Goda; Abrahamsson, Jonas; Jónsson, Ólafur Gisli; Lund, Bendik; Harila-Saari, Arja; Vettenranta, Kim; Mikkel, Sirje; Stanulla, Martin; Lopez-Lopez, Elixabet; Waanders, Esmé; Madsen, Hans O; Marquart, Hanne Vibeke; Modvig, Signe; Gupta, Ramneek; Schmiegelow, Kjeld; Nielsen, Rikke Linnemann (2022-03-22)
    Background: White blood cell count (WBC) as a measure of extramedullary leukemic cell survival is a well-known prognostic factor in acute lymphoblastic leukemia (ALL), but its biology, including impact of host genome variants, is poorly understood. ...
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    Factor D Inhibition Blocks Complement Activation Induced by Mutant Factor B Associated With Atypical Hemolytic Uremic Syndrome and Membranoproliferative Glomerulonephritis 
    Aradottir, Sigridur Sunna; Kristoffersson, Ann Charlotte; Roumenina, Lubka T.; Bjerre, Anna; Kashioulis, Pavlos; Pálsson, Runólfur; Karpman, Diana (2021-06-10)
    Complement factor B (FB) mutant variants are associated with excessive complement activation in kidney diseases such as atypical hemolytic uremic syndrome (aHUS), C3 glomerulopathy and membranoproliferative glomerulonephritis (MPGN). Patients with aHUS ...
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    A genome-wide meta-analysis identifies 50 genetic loci associated with carpal tunnel syndrome 
    DBDS Genetic Consortium (2022-03-24)
    Carpal tunnel syndrome (CTS) is the most common entrapment neuropathy and has a largely unknown underlying biology. In a genome-wide association study of CTS (48,843 cases and 1,190,837 controls), we found 53 sequence variants at 50 loci associated ...
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    A genome-wide meta-analysis yields 46 new loci associating with biomarkers of iron homeostasis 
    DBDS Genomic Consortium; Thorsteinsdottir, Unnur (2021-02-03)
    Iron is essential for many biological functions and iron deficiency and overload have major health implications. We performed a meta-analysis of three genome-wide association studies from Iceland, the UK and Denmark of blood levels of ferritin (N = ...
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    Phenotypic and genotypic variation in the subtidal gastropod Buccinum undatum 
    Magnúsdóttir, Hildur (Háskóli Íslands, 2020-10)
    Variation in morphology of shelled marine gastropods across small spatial scales may reflect restricted population connectivity, resulting in evolutionary or plastic responses to environmental heterogeneity. Species delimitation of shelled gastropods ...
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    Population-level deficit of homozygosity unveils CPSF3 as an intellectual disability syndrome gene 
    Arnadottir, Gudny A.; Oddsson, Asmundur; Jensson, Brynjar O.; Gisladottir, Svanborg; Simon, Mariella T.; Arnthorsson, Asgeir O.; Katrinardottir, Hildigunnur; Fridriksdottir, Run; Ivarsdottir, Erna V.; Jonasdottir, Adalbjorg; Jonasdottir, Aslaug; Barrick, Rebekah; Saemundsdottir, Jona; le Roux, Louise; Oskarsson, Gudjon R.; Asmundsson, Jurate; Steffensen, Thora; Gudmundsson, Kjartan R.; Ludvigsson, Petur; Jonsson, Jon J.; Masson, Gisli; Jonsdottir, Ingileif; Holm, Hilma; Jonasson, Jon G.; Magnusson, Olafur Th; Thorarensen, Olafur; Abdenur, Jose; Norddahl, Gudmundur L.; Gudbjartsson, Daniel F.; Bjornsson, Hans T.; Thorsteinsdottir, Unnur; Sulem, Patrick; Stefansson, Kari (2022-02-04)
    Predicting the pathogenicity of biallelic missense variants can be challenging. Here, we use a deficit of observed homozygous carriers of missense variants, versus an expected number in a set of 153,054 chip-genotyped Icelanders, to identify potentially ...
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    A shared genetic contribution to breast cancer and schizophrenia 
    Lu, Donghao; Song, Jie; Lu, Yi; Fall, Katja; Chen, Xu; Fang, Fang; Landén, Mikael; Hultman, Christina M.; Czene, Kamila; Sullivan, Patrick; Tamimi, Rulla M.; Valdimarsdottir, Unnur (Springer Science and Business Media LLC, 2020-09-15)
    An association between schizophrenia and subsequent breast cancer has been suggested; however the risk of schizophrenia following a breast cancer is unknown. Moreover, the driving forces of the link are largely unclear. Here, we report the phenotypic ...
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    A way forward with eco evo devo: an extended theory of resource polymorphism with postglacial fishes as model systems 
    Skúlason, Skúli; Parsons, Kevin J.; Svanbäck, Richard; Räsänen, Katja; Ferguson, Moira M.; Adams, Colin E.; Amundsen, Per‐Arne; Bartels, Pia; Bean, Colin W.; Boughman, Janette W.; Englund, Göran; Guðbrandsson, Jóhannes; Hooker, Oliver E.; Hudson, Alan G.; Kahilainen, Kimmo K.; Knudsen, Rune; Kristjánsson, Bjarni K.; Leblanc, Camille; Jónsson, Zophonías Oddur; Öhlund, Gunnar; Smith, Carl; Snorrason, Sigurður S. (Wiley, 2019-06-19)
    A major goal of evolutionary science is to understand how biological diversity is generated and altered. Despite considerable advances, we still have limited insight into how phenotypic variation arises and is sorted by natural selection. Here we argue ...