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252 research outcomes, page 1 of 26
  • publication . Article . Other literature type . 2016
    Open Access English
    Authors:
    Zoltan Molnar; Daniel Lyngholm; Timothy Donnison; Isabel Martinez Garay; Antonio Velayos-Baeza;
    Project: WT , RCUK | Integration strategies of... (MR/K004387/1), WT | Understanding the genetic... (090532), WT | The role of the KIAA0319 ... (092071)

    Developmental dyslexia is a common disorder with a strong genetic component, but the underlying molecular mechanisms are still unknown. Several candidate dyslexia-susceptibility genes, including KIAA0319, DYX1C1, and DCDC2, have been identified in humans. RNA interferen...

  • publication . Other literature type . Article . 2015
    Open Access
    Authors:
    Nuala Simpson; Clyde Francks; Rose Kirkland;
    Publisher: Public Library of Science (PLoS)
    Project: NIH | ANALYSIS (5P30AG043097-02), WT | Family histories of child... (060774), RCUK | Investigation of the gene... (MR/J003719/1), WT | Understanding the genetic... (090532), WT | Genetics of specific read... (076566), NIH | Paul Calabresi Career Dev... (5K12CA138464-04), RCUK | Oxford Regional High-Thro... (G0900747)

    Children affected by Specific Language Impairment (SLI) fail to acquire age appropriate language skills despite adequate intelligence and opportunity. SLI is highly heritable, but the understanding of underlying genetic mechanisms has proved challenging. In this study, ...

  • publication . Article . Other literature type . 2017
    Open Access English
    Authors:
    Despoina Manousaki; Lavinia Paternoster; Marie Standl; Miriam F. Moffatt; Martin Farrall; Emmanuelle Bouzigon; David P. Strachan; Florence Demenais; Mark Lathrop; William O. C. M. Cookson; ...
    Publisher: Public Library of Science (PLoS)
    Project: RCUK | Using Genetics to Identif... (MC_UU_12013/4), WT , CIHR , RCUK | The Genetic Epidemiology ... (MR/J012165/1), WT | Understanding the genetic... (090532), WT | A second-generation genom... (084703)

    In a Mendelian randomization analysis, J. Brent Richards and colleagues investigate possible relations between genetic elements associated with vitamin D levels and atopic susceptibility.

  • publication . Article . 2016
    Open Access English
    Authors:
    Kieran R Campbell; Christopher Yau;
    Project: WT | Understanding the genetic... (090532), RCUK | Novel statistical approac... (MR/L001411/1)

    <p>Motivation: Pseudotime analyses of single-cell RNA-seq data have become increasingly common. Typically, a latent trajectory corresponding to a biological process of interest-such as differentiation or cell cycle-is discovered. However, relatively little attention has...

  • publication . Preprint . Other literature type . 2020
    Open Access
    Authors:
    Charles Steward;
    Publisher: Cold Spring Harbor Laboratory
    Project: EC | DOLORisk (633491), WT | Strengthening the neuromu... (201064), WT | Induced pluripotent stem ... (098519), RCUK | What disease mechanisms c... (G1002570), WT | Genomic dissection of inh... (107469), WT | Wellcome Centre for Mitoc... (203105), EC | REVERSIBLECOX (309548), WT | Understanding the genetic... (090532), RCUK | Exosomal protein deficien... (MR/N025431/1), WT | The mechanisms underlying... (202747),...

    <jats:p>Most patients with rare diseases do not receive a molecular diagnosis and the aetiological variants and mediating genes for more than half such disorders remain to be discovered. We implemented whole-genome sequencing (WGS) in a national healthcare system to str...

  • publication . Preprint . Article . Other literature type . 2019
    Open Access
    Authors:
    Eric R. Lucas; Kirk A. Rockett; Amy Lynd; John Essandoh; Nelson Grisales; Brigid Kemei; Harun Njoroge; Christina Hubbart; Emily J. Rippon; John Morgan; ...
    Publisher: Cold Spring Harbor Laboratory
    Project: WT | Using parasite population... (204911), RCUK | Using spatial statistics ... (MR/P02520X/1), WT , EC | AVECNET (265660), WT | Understanding the genetic... (090532), WT | Human Genetics and Diseas... (203141), WT | Resource centre for genom... (090770), NIH | Genome-based diagnostics ... (5R01AI116811-02)

    <jats:title>Abstract</jats:title><jats:p>The spread of resistance to insecticides in the mosquito vectors of diseases such as malaria and dengue poses a threat to the effectiveness of control programmes, which rely largely on insecticide-based interventions. Monitoring ...

  • publication . Article . 2012
    Open Access
    Authors:
    B. Nadjm; Nuno Sepulveda; Taane Clark;
    Publisher: Public Library of Science (PLoS)
    Project: WT | Resource centre for genom... (090770), WT | Identification and functi... (075491), RCUK | Genomic analysis of malar... (G0600230), WT | Understanding the genetic... (090532), WT | 'The Global Health Bioeth... (096527), WT | Learning from the human g... (077383)

    Human genetic background strongly influences susceptibility to malaria infection and progression to severe disease and death. Classical genetic studies identified haemoglobinopathies and erythrocyte-associated polymorphisms, as protective against severe disease. High th...

  • publication . Article . Other literature type . 2016
    Open Access
    Authors:
    Dominic Kwiatkowski;
    Publisher: Springer Science and Business Media LLC
    Project: RCUK | MRC Centre for Genomics a... (G0600718), WT | Understanding the genetic... (090532), WT , WT | Cancer Genome Project. (077012), WT | Identification and functi... (075491), WT | Resource centre for genom... (090770), WT | Learning from the human g... (077383)

    Background Glucose-6-phosphate dehydrogenase (G6PD) deficiency exhibits considerable allelic heterogeneity which manifests with variable biochemical and clinical penetrance. It has long been thought that G6PD deficiency confers partial protection against severe malaria,...

  • publication . Other literature type . Article . 2013
    Open Access
    Authors:
    Ron Nudel; Dianne F Newbury;
    Publisher: Wiley
    Project: RCUK | Investigation of the gene... (MR/J003719/1), WT | Understanding the genetic... (090532)

    The forkhead box P2 gene, designated FOXP2, is the first gene implicated in a speech and language disorder. Since its discovery, many studies have been carried out in an attempt to explain the mechanism by which it influences these characteristically human traits. This ...

  • publication . Article . 2016
    Open Access English
    Authors:
    Paul Ashford; Anna Hernandez; Todd Michael Greco; Anna Buch; Beate Sodeik; Ileana Mihaela Cristea; Kay Grünewald; Adrian Shepherd; Maya Topf;
    Publisher: American Society for Biochemistry and Molecular Biology
    Project: WT | Understanding the genetic... (090532), RCUK | Structural characterizati... (G0600084), RCUK | An integrative approach t... (MR/M019292/1), WT , NIH | Host Factors Required for... (5R33AI102187-04), WT | Membrane modulation in cr... (107806), NIH | Mechanisms mediating immu... (5R01GM114141-02), WT | Membrane remodelling by v... (090895)

    Human herpesviruses are widespread human pathogens with a remarkable impact on worldwide public health. Despite intense decades of research, the molecular details in many aspects of their function remain to be fully characterized. To unravel the details of how these vir...

252 research outcomes, page 1 of 26
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