Gene duplications resulting in over expression of glucokinase are not a common cause of hypoglycaemia of infancy in humans

por van de Bunt, Martijn, Edghill, Emma L., Hussain, Khalid, Ellard, Sian, Gloyn, Anna L.
Publicado 2008

A Multi-tissue Transcriptome Analysis of Human Metabolites Guides Interpretability of Associations Based on Multi-SNP Models for Gene Expression

por Ndungu, Anne, Payne, Anthony, Torres, Jason M., van de Bunt, Martijn, McCarthy, Mark I.
Publicado 2020

Evaluating the Performance of Fine-Mapping Strategies at Common Variant GWAS Loci

por van de Bunt, Martijn, Cortes, Adrian, Brown, Matthew A., Morris, Andrew P., McCarthy, Mark I.
Publicado 2015

Insights into islet development and biology through characterization of a human iPSC-derived endocrine pancreas model

por van de Bunt, Martijn, Lako, Majlinda, Barrett, Amy, Gloyn, Anna L., Hansson, Mattias, McCarthy, Mark I., Beer, Nicola L., Honoré, Christian
Publicado 2016

Inferring causal genes at type 2 diabetes GWAS loci through chromosome interactions in islet cells

por Torres, Jason M., Sun, Han, Nylander, Vibe, Downes, Damien J., van de Bunt, Martijn, McCarthy, Mark I., Hughes, Jim R., Gloyn, Anna L.
Publicado 2023

Patterns of differential gene expression in a cellular model of human islet development, and relationship to type 2 diabetes predisposition

por Perez-Alcantara, Marta, Honoré, Christian, Wesolowska-Andersen, Agata, Gloyn, Anna L., McCarthy, Mark I., Hansson, Mattias, Beer, Nicola L., van de Bunt, Martijn
Publicado 2018

Identification and Functional Characterisation of Novel Glucokinase Mutations Causing Maturity-Onset Diabetes of the Young in Slovakia

por Valentínová, Lucia, Beer, Nicola L., Staník, Juraj, Tribble, Nicholas D., van de Bunt, Martijn, Hučková, Miroslava, Barrett, Amy, Klimeš, Iwar, Gašperíková, Daniela, Gloyn, Anna L.
Publicado 2012

Developing a network view of type 2 diabetes risk pathways through integration of genetic, genomic and functional data

por Fernández-Tajes, Juan, Gaulton, Kyle J., van de Bunt, Martijn, Torres, Jason, Thurner, Matthias, Mahajan, Anubha, Gloyn, Anna L., Lage, Kasper, McCarthy, Mark I.
Publicado 2019

Deep learning reveals 3D atherosclerotic plaque distribution and composition

por Jurtz, Vanessa Isabell, Skovbjerg, Grethe, Salinas, Casper Gravesen, Roostalu, Urmas, Pedersen, Louise, Hecksher-Sørensen, Jacob, Rolin, Bidda, Nyberg, Michael, van de Bunt, Martijn, Ingvorsen, Camilla
Publicado 2020

The miRNA Profile of Human Pancreatic Islets and Beta-Cells and Relationship to Type 2 Diabetes Pathogenesis

por van de Bunt, Martijn, Gaulton, Kyle J., Parts, Leopold, Moran, Ignasi, Johnson, Paul R., Lindgren, Cecilia M., Ferrer, Jorge, Gloyn, Anna L., McCarthy, Mark I.
Publicado 2013

Reduced somatostatin signalling leads to hypersecretion of glucagon in mice fed a high-fat diet

por Kellard, Joely A., Rorsman, Nils J.G., Hill, Thomas G., Armour, Sarah L., van de Bunt, Martijn, Rorsman, Patrik, Knudsen, Jakob G., Briant, Linford J.B.
Publicado 2020

Electrophysiological properties of human beta-cell lines EndoC-βH1 and -βH2 conform with human beta-cells

por Hastoy, Benoît, Godazgar, Mahdieh, Clark, Anne, Nylander, Vibe, Spiliotis, Ioannis, van de Bunt, Martijn, Chibalina, Margarita V., Barrett, Amy, Burrows, Carla, Tarasov, Andrei I., Scharfmann, Raphael, Gloyn, Anna L., Rorsman, Patrik
Publicado 2018

Insights Into the Pathogenicity of Rare Missense GCK Variants From the Identification and Functional Characterization of Compound Heterozygous and Double Mutations Inherited in Cis

por Beer, Nicola L., Osbak, Kara K., van de Bunt, Martijn, Tribble, Nicholas D., Steele, Anna M., Wensley, Kirsty J., Edghill, Emma L., Colcough, Kevin, Barrett, Amy, Valentínová, Lucia, Rundle, Jana K., Raimondo, Anne, Grimsby, Joseph, Ellard, Sian, Gloyn, Anna L.
Publicado 2012

Transcript Expression Data from Human Islets Links Regulatory Signals from Genome-Wide Association Studies for Type 2 Diabetes and Glycemic Traits to Their Downstream Effectors

por van de Bunt, Martijn, Manning Fox, Jocelyn E., Dai, Xiaoqing, Barrett, Amy, Grey, Caleb, Li, Lei, Bennett, Amanda J., Johnson, Paul R., Rajotte, Raymond V., Gaulton, Kyle J., Dermitzakis, Emmanouil T., MacDonald, Patrick E., McCarthy, Mark I., Gloyn, Anna L.
Publicado 2015

Integration of human pancreatic islet genomic data refines regulatory mechanisms at Type 2 Diabetes susceptibility loci

por Thurner, Matthias, van de Bunt, Martijn, Torres, Jason M, Mahajan, Anubha, Nylander, Vibe, Bennett, Amanda J, Gaulton, Kyle J, Barrett, Amy, Burrows, Carla, Bell, Christopher G, Lowe, Robert, Beck, Stephan, Rakyan, Vardhman K, Gloyn, Anna L, McCarthy, Mark I
Publicado 2018

Identification of a Novel β-Cell Glucokinase (GCK) Promoter Mutation (−71G>C) That Modulates GCK Gene Expression Through Loss of Allele-Specific Sp1 Binding Causing Mild Fasting Hy...

por Gašperíková, Daniela, Tribble, Nicolas D., Staník, Juraj, Hučková, Miroslava, Mišovicová, Nadežda, van de Bunt, Martijn, Valentínová, Lucia, Barrow, Beryl A., Barák, L'ubomir, Dobránsky, Radoslav, Bereczková, Eva, Michálek, Jozef, Wicks, Kate, Colclough, Kevin, Knight, Julian C., Ellard, Sian, Klimeš, Iwar, Gloyn, Anna L.
Publicado 2009

Diabetes causes marked inhibition of mitochondrial metabolism in pancreatic β-cells

por Haythorne, Elizabeth, Rohm, Maria, van de Bunt, Martijn, Brereton, Melissa F., Tarasov, Andrei I., Blacker, Thomas S., Sachse, Gregor, Silva dos Santos, Mariana, Terron Exposito, Raul, Davis, Simon, Baba, Otto, Fischer, Roman, Duchen, Michael R., Rorsman, Patrik, MacRae, James I., Ashcroft, Frances M.
Publicado 2019

Semantic text mining in early drug discovery for type 2 diabetes

por Hansson, Lena K., Hansen, Rasmus Borup, Pletscher-Frankild, Sune, Berzins, Rudolfs, Hansen, Daniel Hvidberg, Madsen, Dennis, Christensen, Sten B., Christiansen, Malene Revsbech, Boulund, Ulrika, Wolf, Xenia Asbæk, Kjærulff, Sonny Kim, van de Bunt, Martijn, Tulin, Søren, Jensen, Thomas Skøt, Wernersson, Rasmus, Jensen, Jan Nygaard
Publicado 2020

AKR1D1 is a novel regulator of metabolic phenotype in human hepatocytes and is dysregulated in non-alcoholic fatty liver disease

por Nikolaou, Nikolaos, Gathercole, Laura L., Marchand, Lea, Althari, Sara, Dempster, Niall J., Green, Charlotte J., van de Bunt, Martijn, McNeil, Catriona, Arvaniti, Anastasia, Hughes, Beverly A., Sgromo, Bruno, Gillies, Richard S., Marschall, Hanns-Ulrich, Penning, Trevor M., Ryan, John, Arlt, Wiebke, Hodson, Leanne, Tomlinson, Jeremy W.
Publicado 2019

Using an atlas of gene regulation across 44 human tissues to inform complex disease- and trait-associated variation

por Gamazon, Eric R., Segrè, Ayellet V., van de Bunt, Martijn, Wen, Xiaoquan, Xi, Hualin S., Hormozdiari, Farhad, Ongen, Halit, Konkashbaev, Anuar, Derks, Eske M., Aguet, François, Quan, Jie, Nicolae, Dan L., Eskin, Eleazar, Kellis, Manolis, Getz, Gad, McCarthy, Mark I., Dermitzakis, Emmanouil T., Cox, Nancy J., Ardlie, Kristin G.
Publicado 2018