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

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

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

Tekijä Ndungu, Anne, Payne, Anthony, Torres, Jason M., van de Bunt, Martijn, McCarthy, Mark I.
Julkaisussa Am J Hum Genet (2020)

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

Tekijä van de Bunt, Martijn, Cortes, Adrian, Brown, Matthew A., Morris, Andrew P., McCarthy, Mark I.
Julkaisussa PLoS Genet (2015)

SSTR2 is the functionally dominant somatostatin receptor in human pancreatic β- and α-cells

Tekijä Kailey, Balrik, van de Bunt, Martijn, Cheley, Stephen, Johnson, Paul R., MacDonald, Patrick E., Gloyn, Anna L., Rorsman, Patrik, Braun, Matthias
Julkaistu 2012

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

Tekijä van de Bunt, Martijn, Lako, Majlinda, Barrett, Amy, Gloyn, Anna L., Hansson, Mattias, McCarthy, Mark I., Beer, Nicola L., Honoré, Christian
Julkaisussa Islets (2016)

Discovery of a Novel Site Regulating Glucokinase Activity following Characterization of a New Mutation Causing Hyperinsulinemic Hypoglycemia in Humans

Tekijä Beer, Nicola L., van de Bunt, Martijn, Colclough, Kevin, Lukacs, Christine, Arundel, Paul, Chik, Constance L., Grimsby, Joseph, Ellard, Sian, Gloyn, Anna L.
Julkaistu 2011

Systematic Functional Characterization of Candidate Causal Genes for Type 2 Diabetes Risk Variants

Tekijä Thomsen, Soren K, Ceroni, Alessandro, van de Bunt, Martijn, Burrows, Carla, Barrett, Amy, Scharfmann, Raphael, Ebner, Daniel, McCarthy, Mark I, Gloyn, Anna L
Julkaisussa Diabetes (2016)

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

Tekijä Perez-Alcantara, Marta, Honoré, Christian, Wesolowska-Andersen, Agata, Gloyn, Anna L., McCarthy, Mark I., Hansson, Mattias, Beer, Nicola L., van de Bunt, Martijn
Julkaisussa Diabetologia (2018)

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

Tekijä 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.
Julkaistu 2012

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

Tekijä Fernández-Tajes, Juan, Gaulton, Kyle J., van de Bunt, Martijn, Torres, Jason, Thurner, Matthias, Mahajan, Anubha, Gloyn, Anna L., Lage, Kasper, McCarthy, Mark I.
Julkaisussa Genome Med (2019)

Deep learning reveals 3D atherosclerotic plaque distribution and composition

Tekijä 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
Julkaisussa Sci Rep (2020)

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

Tekijä 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.
Julkaistu 2013

Colocalization of GWAS and eQTL Signals Detects Target Genes

Tekijä Hormozdiari, Farhad, van de Bunt, Martijn, Segrè, Ayellet V., Li, Xiao, Joo, Jong Wha J., Bilow, Michael, Sul, Jae Hoon, Sankararaman, Sriram, Pasaniuc, Bogdan, Eskin, Eleazar
Julkaisussa Am J Hum Genet (2016)

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

Tekijä 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.
Julkaisussa Mol Metab (2020)

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

Tekijä 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
Julkaisussa Sci Rep (2018)

PTEN Mutations as a Cause of Constitutive Insulin Sensitivity and Obesity

Tekijä Pal, Aparna, Barber, Thomas M., Van de Bunt, Martijn, Rudge, Simon A., Zhang, Qifeng, Lachlan, Katherine L., Cooper, Nicola S., Linden, Helen, Levy, Jonathan C., Wakelam, Michael J.O., Walker, Lisa, Karpe, Fredrik, Gloyn, Anna L.
Julkaistu 2012

Understanding human fetal pancreas development using subpopulation sorting, RNA sequencing and single-cell profiling

Tekijä Ramond, Cyrille, Beydag-Tasöz, Belin Selcen, Azad, Ajuna, van de Bunt, Martijn, Petersen, Maja Borup Kjær, Beer, Nicola L., Glaser, Nicolas, Berthault, Claire, Gloyn, Anna L., Hansson, Mattias, McCarthy, Mark I., Honoré, Christian, Grapin-Botton, Anne, Scharfmann, Raphael
Julkaisussa Development (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

Tekijä 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.
Julkaistu 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

Tekijä 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.
Julkaisussa PLoS Genet (2015)

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

Tekijä 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
Julkaisussa eLife (2018)