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  • Genome-wide meta-analysis o... Genome-wide meta-analysis of problematic alcohol use in 435,563 individuals yields insights into biology and relationships with other traits
    Zhou, Hang; Sealock, Julia M; Sanchez-Roige, Sandra ... Nature neuroscience, 07/2020, Volume: 23, Issue: 7
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    Problematic alcohol use (PAU) is a leading cause of death and disability worldwide. Although genome-wide association studies have identified PAU risk genes, the genetic architecture of this trait is ...
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  • Human Calmodulin Mutations Human Calmodulin Mutations
    Jensen, Helene H; Brohus, Malene; Nyegaard, Mette ... Frontiers in molecular neuroscience, 11/2018, Volume: 11
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    Fluxes of calcium (Ca ) across cell membranes enable fast cellular responses. Calmodulin (CaM) senses local changes in Ca concentration and relays the information to numerous interaction partners. ...
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  • Experimental validation of ... Experimental validation of methods for differential gene expression analysis and sample pooling in RNA-seq
    Rajkumar, Anto P; Qvist, Per; Lazarus, Ross ... BMC genomics, 07/2015, Volume: 16, Issue: 1
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    Massively parallel cDNA sequencing (RNA-seq) experiments are gradually superseding microarrays in quantitative gene expression profiling. However, many biologists are uncertain about the choice of ...
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  • Mutations in Calmodulin Cau... Mutations in Calmodulin Cause Ventricular Tachycardia and Sudden Cardiac Death
    NYEGAARD, Mette; OVERGAARD, Michael T; FOSDAL, Inger ... American journal of human genetics, 10/2012, Volume: 91, Issue: 4
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    Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a devastating inherited disorder characterized by episodic syncope and/or sudden cardiac arrest during exercise or acute emotion in ...
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  • Calmodulin mutations affect... Calmodulin mutations affecting Gly114 impair binding to the NaV1.5 IQ-domain
    Brohus, Malene; Busuioc, Ana-Octavia; Wimmer, Reinhard ... Frontiers in pharmacology, 08/2023, Volume: 14
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    Missense variants in CALM genes encoding the Ca 2+ -binding protein calmodulin (CaM) cause severe cardiac arrhythmias. The disease mechanisms have been attributed to dysregulation of RyR2, for ...
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  • Gut microbiota profiles of ... Gut microbiota profiles of autism spectrum disorder and attention deficit/hyperactivity disorder: A systematic literature review
    Bundgaard-Nielsen, Caspar; Knudsen, Julie; Leutscher, Peter D. C. ... Gut microbes, 09/2020, Volume: 11, Issue: 5
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    Accumulating evidence has implicated an involvement of the gut-brain axis in autism spectrum disorder (ASD) and attention-deficit hyperactivity disorder (ADHD), however with highly diverse results. ...
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  • Therapeutic endometrial scr... Therapeutic endometrial scratching and implantation after in vitro fertilization: a multicenter randomized controlled trial
    Olesen, Mia Steengaard; Hauge, Benedicte; Ohrt, Lisbeth ... Fertility and sterility, December 2019, 2019-12-00, 20191201, Volume: 112, Issue: 6
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    To study whether endometrial scratching in the luteal phase before ovarian stimulation increases clinical pregnancy rates in women with one or more previous implantation failures. A nonblinded ...
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  • Triploidy--Observations in ... Triploidy--Observations in 154 Diandric Cases
    Scholz, Nanna Brink; Bolund, Lars; Nyegaard, Mette ... PloS one, 11/2015, Volume: 10, Issue: 11
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    Hydatidiform moles (HMs) are abnormal human pregnancies with vesicular chorionic villi, imposing two clinical challenges; miscarriage and a risk of gestational trophoblastic neoplasia (GTN). The ...
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  • Coronary artery disease-ass... Coronary artery disease-associated genetic variants and biomarkers of inflammation
    Christiansen, Morten Krogh; Larsen, Sanne Bøjet; Nyegaard, Mette ... PloS one, 07/2017, Volume: 12, Issue: 7
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    Genetic constitution and inflammation both contribute to development of coronary artery disease (CAD). Several CAD-associated single-nucleotide polymorphisms (SNPs) have recently been identified, but ...
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  • CtIP Mutations Cause Seckel... CtIP Mutations Cause Seckel and Jawad Syndromes
    Qvist, Per; Huertas, Pablo; Jimeno, Sonia ... PLOS genetics, 10/2011, Volume: 7, Issue: 10
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    Seckel syndrome is a recessively inherited dwarfism disorder characterized by microcephaly and a unique head profile. Genetically, it constitutes a heterogeneous condition, with several loci mapped ...
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