Works matching AU Gloyn, Anna L.

Results: 94

Accelerating Medicines Partnership in Type 2 Diabetes and Common Metabolic Diseases: Collaborating to Maximize the Value of Genetic and Genomic Data.

Published in:

Diabetes, 2025, v. 74, n. 7, p. 1089, doi. 10.2337/db25-0042

By:

Costanzo, Maria C.;
Akolkar, Beena;
Claussnitzer, Melina;
Florez, Jose C.;
Gloyn, Anna L.;
Grant, Struan F.A.;
Kaestner, Klaus H.;
Manning, Alisa K.;
Mohlke, Karen L.;
Parker, Stephen C.J.;
Titchenell, Paul M.;
Udler, Miriam S.;
Jones, Melissa A.;
Kamphaus, Tania N.;
Fischer, Rachel A.;
McCarthy, Mark I.;
Miller, Melissa R.;
Boehnke, Michael;
Flannick, Jason;
Burtt, Noël P.

Publication type:

Article

Update on mutations in glucokinase ( GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia.

Published in:

2009

By:

Osbak, Kara K.;
Colclough, Kevin;
Saint-Martin, Cecile;
Beer, Nicola L.;
Bellanné-Chantelot, Christine;
Ellard, Sian;
Gloyn, Anna L.

Publication type:

Other

Update of mutations in the genes encoding the pancreatic beta-cell K<sub>ATP</sub> channel subunits Kir6.2 ( KCNJ11) and sulfonylurea receptor 1 ( ABCC8) in diabetes mellitus and hyperinsulinism.

Published in:

2009

By:

Flanagan, Sarah E.;
Clauin, Séverine;
Bellanné-Chantelot, Christine;
de Lonlay, Pascale;
Harries, Lorna W.;
Gloyn, Anna L.;
Ellard, Sian

Publication type:

Other

Mutations in the genes encoding the pancreatic beta-cell K<sub>ATP</sub> channel subunits Kir6.2 ( KCNJ11) and SUR1 ( ABCC8) in diabetes mellitus and hyperinsulinism.

Published in:

2006

By:

Gloyn, Anna L.;
Siddiqui, Juveria;
Ellard, Sian

Publication type:

Other

KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes.

Published in:

Human Mutation, 2005, v. 25, n. 1, p. 22, doi. 10.1002/humu.20124

By:

Massa, Ornella;
Iafusco, Dario;
D'Amato, Elena;
Gloyn, Anna L.;
Hattersley, Andrew T.;
Pasquino, Bruno;
Tonini, Giorgio;
Dammacco, Francesco;
Zanette, Giorgio;
Meschi, Franco;
Porzio, Ottavia;
Bottazzo, Gianfranco;
Crinó, Antonino;
Lorini, Renata;
Cerutti, Franco;
Vanelli, Maurizio;
Barbetti, Fabrizio

Publication type:

Article

Glucokinase (GCK) mutations in hyper- and hypoglycemia: Maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemia of infancy(Communicated by Mark H. Paalman).

Published in:

Human Mutation, 2003, v. 22, n. 5, p. 353, doi. 10.1002/humu.10277

By:

Anna L. Gloyn

Publication type:

Article

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

Published in:

Scientific Reports, 2018, v. 8, n. 1, p. 1, doi. 10.1038/s41598-018-34743-7

By:

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

Publication type:

Article

Relationship between E23K (an established type II diabetes-susceptibility variant within KCNJ11), polycystic ovary syndrome and androgen levels.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 6, p. 679, doi. 10.1038/sj.ejhg.5201802

By:

Barber, Thomas M.;
Bennett, Amanda J.;
Gloyn, Anna L.;
Groves, Christopher J.;
Sovio, Ulla;
Ruokonen, Aimo;
Martikainen, Hannu;
Pouta, Anneli;
Taponen, Saara;
Weedon, Michael N.;
Hartikainen, Anna-Liisa;
Wass, John A. H.;
Järvelin, Marjo-Riitta;
Zeggini, Eleftheria;
Franks, Stephen;
McCarthy, Mark I.

Publication type:

Article

KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features.

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 7, p. 824, doi. 10.1038/sj.ejhg.5201629

By:

Gloyn, Anna L.;
Diatloff-Zito, Catherine;
Edghill, Emma L.;
Bellanné-Chantelot, Christine;
Nivot, Sylvie;
Coutant, Régis;
Ellard, Sian;
Hattersley, Andrew T.;
Robert, Jean Jacques

Publication type:

Article

Pancreatic islet enhancer clusters enriched in type 2 diabetes risk-associated variants.

Published in:

Nature Genetics, 2014, v. 46, n. 2, p. 136, doi. 10.1038/ng.2870

By:

Pasquali, Lorenzo;
Gaulton, Kyle J;
Rodríguez-Seguí, Santiago A;
Mularoni, Loris;
Miguel-Escalada, Irene;
Akerman, İldem;
Tena, Juan J;
Morán, Ignasi;
Gómez-Marín, Carlos;
van de Bunt, Martijn;
Ponsa-Cobas, Joan;
Castro, Natalia;
Nammo, Takao;
Cebola, Inês;
García-Hurtado, Javier;
Maestro, Miguel Angel;
Pattou, François;
Piemonti, Lorenzo;
Berney, Thierry;
Gloyn, Anna L

Publication type:

Article

Variation across the allele frequency spectrum.

Published in:

Nature Genetics, 2010, v. 42, n. 8, p. 648, doi. 10.1038/ng0810-648

By:

Gloyn, Anna L.;
McCarthy, Mark I.

Publication type:

Article

Erratum: New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk.

Published in:

2010

By:

Dupuis, Josée;
Langenberg, Claudia;
Prokopenko, Inga;
Saxena, Richa;
Soranzo, Nicole;
Jackson, Anne U;
Wheeler, Eleanor;
Glazer, Nicole L;
Bouatia-Naji, Nabila;
Gloyn, Anna L;
Lindgren, Cecilia M;
Mägi, Reedik;
Morris, Andrew P;
Randall, Joshua;
Johnson, Toby;
Elliott, Paul;
Rybin, Denis;
Thorleifsson, Gudmar;
Steinthorsdottir, Valgerdur;
Henneman, Peter

Publication type:

Correction Notice

New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk.

Published in:

Nature Genetics, 2010, v. 42, n. 2, p. 105, doi. 10.1038/ng.520

By:

Dupuis, Josée;
Langenberg, Claudia;
Prokopenko, Inga;
Saxena, Richa;
Soranzo, Nicole;
Jackson, Anne U.;
Wheeler, Eleanor;
Glazer, Nicole L.;
Bouatia-Naji, Nabila;
Gloyn, Anna L.;
Lindgren, Cecilia M.;
Mägi, Reedik;
Morris, Andrew P.;
Randall, Joshua;
Johnson, Toby;
Elliott, Paul;
Rybin, Denis;
Thorleifsson, Gudmar;
Steinthorsdottir, Valgerdur;
Henneman, Peter

Publication type:

Article

Mutations in PTF1A cause pancreatic and cerebellar agenesis.

Published in:

Nature Genetics, 2004, v. 36, n. 12, p. 1301, doi. 10.1038/ng1475

By:

Sellick, Gabrielle S;
Barker, Karen T;
Stolte-Dijkstra, Irene;
Fleischmann, Christina;
J Coleman, Richard;
Garrett, Christine;
Gloyn, Anna L;
Edghill, Emma L;
Hattersley, Andrew T;
Wellauer, Peter K;
Goodwin, Graham;
Houlston, Richard S

Publication type:

Article

Origin of de novo KCNJ11 mutations and risk of neonatal diabetes for subsequent siblings.

Published in:

2007

By:

Edghill, Emma L;
Gloyn, Anna L;
Goriely, Anne;
Harries, Lorna W;
Flanagan, Sarah E;
Rankin, Julia;
Hattersley, Andrew T;
Ellard, Sian

Publication type:

journal article

Permanent Neonatal Diabetes due to Paternal Germline Mosaicism for an Activating Mutation of the KCNJ11 Gene Encoding the Kir6.2 Subunit of the β-Cell Potassium Adenosine Triphosphate Channel.

Published in:

Journal of Clinical Endocrinology & Metabolism, 2004, v. 89, n. 8, p. 3932, doi. 10.1210/jc.2004-0568

By:

GLOYN, ANNA L.;
CUMMINGS, ELIZABETH A.;
EDGHILL, EMMA L.;
HARRIES, LORNA W.;
SCOTT, RACHEL;
COSTA, TERESA;
TEMPLE, I. KAREN;
HATTERSLEY, ANDREW T.;
ELLARD, SIAN

Publication type:

Article

The contribution of functional HNF1A variants and polygenic susceptibility to risk of type 2 diabetes in ancestrally diverse populations.

Published in:

Diabetologia, 2023, v. 66, n. 1, p. 116, doi. 10.1007/s00125-022-05806-2

By:

Stalbow, Lauren A.;
Preuss, Michael H.;
Smit, Roelof A. J.;
Chami, Nathalie;
Bjørkhaug, Lise;
Aukrust, Ingvild;
Gloyn, Anna L.;
Loos, Ruth J. F.

Publication type:

Article

Fostering improved human islet research: a European perspective.

Published in:

2019

By:

Marchetti, Piero;
Schulte, Anke M.;
Marselli, Lorella;
Schoniger, Eyke;
Bugliani, Marco;
Kramer, Werner;
Overbergh, Lut;
Ullrich, Susanne;
Gloyn, Anna L.;
Ibberson, Mark;
Rutter, Guy;
Froguel, Philippe;
Groop, Leif;
McCarthy, Mark I.;
Dotta, Francesco;
Scharfmann, Raphael;
Magnan, Christophe;
Eizirik, Decio L.;
Mathieu, Chantal;
Cnop, Miriam

Publication type:

Letter

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

Published in:

Diabetologia, 2018, v. 61, n. 7, p. 1614, doi. 10.1007/s00125-018-4612-4

By:

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

Publication type:

Article

Heterogeneity of increased biological age in type 2 diabetes correlates with differential tissue DNA methylation, biological variables, and pharmacological treatments.

Published in:

GeroScience, 2024, v. 46, n. 2, p. 2441, doi. 10.1007/s11357-023-01009-8

By:

Cortez, Briana N.;
Pan, Hui;
Hinthorn, Samuel;
Sun, Han;
Neretti, Nicola;
Gloyn, Anna L.;
Aguayo-Mazzucato, Cristina

Publication type:

Article

CD39 delineates chimeric antigen receptor regulatory T cell subsets with distinct cytotoxic & regulatory functions against human islets.

Published in:

Frontiers in Immunology, 2024, p. 1, doi. 10.3389/fimmu.2024.1415102

By:

Xiangni Wu;
Pin-I Chen;
Whitener, Robert L.;
MacDougall, Matthew S.;
Coykendall, Vy M. N.;
Hao Yan;
Yong Bin Kim;
Harper, William;
Pathak, Shiva;
Iliopoulou, Bettina P.;
Hestor, Allison;
Saunders, Diane C.;
Spears, Erick;
Sévigny, Jean;
Maahs, David M.;
Basina, Marina;
Sharp, Seth A.;
Gloyn, Anna L.;
Powers, Alvin C.;
Kim, Seung K.

Publication type:

Article

An Atlas of Variant Effects to understand the genome at nucleotide resolution.

Published in:

2023

By:

Fowler, Douglas M.;
Adams, David J.;
Gloyn, Anna L.;
Hahn, William C.;
Marks, Debora S.;
Muffley, Lara A.;
Neal, James T.;
Roth, Frederick P.;
Rubin, Alan F.;
Starita, Lea M.;
Hurles, Matthew E.

Publication type:

Editorial

A comprehensive map of human glucokinase variant activity.

Published in:

Genome Biology, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s13059-023-02935-8

By:

Gersing, Sarah;
Cagiada, Matteo;
Gebbia, Marinella;
Gjesing, Anette P.;
Coté, Atina G.;
Seesankar, Gireesh;
Li, Roujia;
Tabet, Daniel;
Weile, Jochen;
Stein, Amelie;
Gloyn, Anna L.;
Hansen, Torben;
Roth, Frederick P.;
Lindorff-Larsen, Kresten;
Hartmann-Petersen, Rasmus

Publication type:

Article

A Panel of Diverse Assays to Interrogate the Interaction between Glucokinase and Glucokinase Regulatory Protein, Two Vital Proteins in Human Disease.

Published in:

PLoS ONE, 2014, v. 9, n. 2, p. 1, doi. 10.1371/journal.pone.0089335

By:

Rees, Matthew G.;
Davis, Mindy I.;
Shen, Min;
Titus, Steve;
Raimondo, Anne;
Barrett, Amy;
Gloyn, Anna L.;
Collins, Francis S.;
Simeonov, Anton

Publication type:

Article

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

Published in:

PLoS ONE, 2013, v. 8, n. 1, p. 1, doi. 10.1371/journal.pone.0055272

By:

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

Publication type:

Article

Metabolic Profiling in Maturity-Onset Diabetes of the Young (MODY) and Young Onset Type 2 Diabetes Fails to Detect Robust Urinary Biomarkers.

Published in:

PLoS ONE, 2012, v. 7, n. 7, p. 1, doi. 10.1371/journal.pone.0040962

By:

Gloyn, Anna L.;
Faber, Johan H.;
Malmodin, Daniel;
Thanabalasingham, Gaya;
Lam, Francis;
Ueland, Per Magne;
McCarthy, Mark I.;
Owen, Katharine R.;
Baunsgaard, Dorrit

Publication type:

Article

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

Published in:

PLoS ONE, 2012, v. 7, n. 4, p. 1, doi. 10.1371/journal.pone.0034541

By:

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

Publication type:

Article

Low Frequency Variants in the Exons Only Encoding Isoform A of HNF1A Do Not Contribute to Susceptibility to Type 2 Diabetes.

Published in:

PLoS ONE, 2009, v. 4, n. 8, p. 1, doi. 10.1371/journal.pone.0006615

By:

Jafar-Mohammadi, Bahram;
Groves, Christopher J.;
Owen, Katharine R.;
Frayling, Timothy M.;
Hattersley, Andrew T.;
McCarthy, Mark I.;
Gloyn, Anna L.

Publication type:

Article

Activating mutations in the KCNJ11 gene encoding the ATP-sensitive K+ channel subunit Kir6.2 are rare in clinically defined type 1 diabetes diagnosed before 2 years.

Published in:

2004

By:

Edghill, Emma L.;
Gloyn, Anna L.;
Gillespie, Kathleen M.;
Lambert, A. Paul;
Raymond, Neil T.;
Swift, Peter G.;
Ellard, Sian;
Gale, Edwin A. M.;
Hattersley, Andrew T.

Publication type:

journal article

Kir6.2 Mutations Are a Common Cause of Permanent NeonatalDiabetes in a Large Cohort of French Patients.

Published in:

Diabetes, 2004, v. 53, n. 10, p. 2719, doi. 10.2337/diabetes.53.10.2719

By:

Vaxillaire, Martine;
Populaire, Céline;
Busiah, Kanetee;
Cavé, Hélène;
Gloyn, Anna L.;
Hattersley, Andrew T.;
Czernichow, Paul;
Froguel, Philippe;
Polak, Michel

Publication type:

Article

Permanent Neonatal Diabetes due to Mutations in KCNJ11Encoding Kir6.2.

Published in:

Diabetes, 2004, v. 53, n. 10, p. 2713, doi. 10.2337/diabetes.53.10.2713

By:

Sagen, Jørn V.;
Ræder, Helge;
Hathout, Eba;
Shehadeh, Naim;
Gudmundsson, Kolbeinn;
Bævre, Halvor;
Abuelo, Dianne;
Phornphutkul, Chanika;
Molnes, Janne;
Bell, Graeme I.;
Gloyn, Anna L.;
Hattersley, Andrew T.;
Molven, Anders;
Søvik, Oddmund;
Njølstad, Pål R.

Publication type:

Article

Insights into the biochemical and genetic basis of glucokinase activation from naturally occurring hypoglycemia mutations.

Published in:

2003

By:

Gloyn, Anna L.;
Noordam, Kees;
Willemsen, Michèl A. A. P.;
Ellard, Sian;
Lam, Wayne W. K.;
Campbell, Ian W.;
Midgley, Paula;
Shiota, Chyio;
Buettger, Carol;
Magnuson, Mark A.;
Matschinsky, Franz M.;
Hattersley, Andrew T.;
Willemsen, Michèl A A P

Publication type:

journal article

Large-scale association studies of variants in genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) confirm that the KCNJ11 E23K variant is associated with type 2 diabetes.

Published in:

2003

By:

Gloyn, Anna L.;
Weedon, Michael N.;
Owen, Katharine R.;
Turner, Martina J.;
Knight, Bridget A.;
Hitman, Graham;
Walker, Mark;
Levy, Jonathan C.;
Sampson, Mike;
Halford, Stephanie;
McCarthy, Mark I.;
Hattersley, Andrew T.;
Frayling, Timothy M.

Publication type:

journal article

A putative functional polymorphism in the IGF-I gene: association studies with type 2 diabetes, adult height, glucose tolerance, and fetal growth in U.K. populations.

Published in:

2002

By:

Frayling, Timothy M;
Hattersley, Andrew T;
McCarthy, Anne;
Holly, Jeff;
Mitchell, Simon M S;
Gloyn, Anna L;
Owen, Katharine;
Davies, David;
Smith, George Davey;
Ben-Shlomo, Yoav

Publication type:

journal article

Maturity-onset diabetes of the young caused by a balanced translocation where the 20q12 break point results in disruption upstream of the coding region of hepatocyte nuclear factor-4alpha (HNF4A) gene.

Published in:

2002

By:

Gloyn, Anna L.;
Ellard, Sian;
Shepherd, Maggie;
Howell, Rodney T.;
Parry, Elizabeth M.;
Jefferson, Andrew;
Levy, Elaine R.;
Hattersley, Andrew T.

Publication type:

journal article

A Putative Functional Polymorphism in the IGF-I Gene.

Published in:

Diabetes, 2002, v. 51, n. 7, p. 2313, doi. 10.2337/diabetes.51.7.2313

By:

Frayling, Timothy M.;
Hattersley, Andrew T.;
McCarthy, Anne;
Holly, Jeff;
Mitchell, Simon M.S.;
Gloyn, Anna L.;
Owen, Katharine;
Davies, David;
Davey Smith, George;
Ben-Shlomo, Yoav

Publication type:

Article

Small molecular glucokinase activators: has another new anti-diabetic therapeutic lost favour?

Published in:

British Journal of Pharmacology, 2013, v. 168, n. 2, p. 335, doi. 10.1111/j.1476-5381.2012.02201.x

By:

Rees, Matthew G;
Gloyn, Anna L

Publication type:

Article

Small molecular glucokinase activators: has another new anti-diabetic therapeutic lost favour?

Published in:

2013

By:

Rees MG;
Gloyn AL;
Rees, Matthew G;
Gloyn, Anna L

Publication type:

journal article

Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 24, p. 6432

By:

Raimondo, Anne;
Chakera, Ali J.;
Thomsen, Soren K.;
Colclough, Kevin;
Barrett, Amy;
De Franco, Elisa;
Chatelas, Alisson;
Demirbilek, Huseyin;
Akcay, Teoman;
Alawneh, Hussein;
Flanagan, Sarah E.;
Van De Bunt, Martijn;
Hattersley, Andrew T.;
Gloyn, Anna L.;
Ellard, Sian

Publication type:

Article

Inheritance of rare functional GCKR variants and their contribution to triglyceride levels in families.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 20, p. 5570, doi. 10.1093/hmg/ddu269

By:

Rees, Matthew G.;
Raimondo, Anne;
Wang, Jian;
Ban, Matthew R.;
Davis, Mindy I.;
Barrett, Amy;
Ranft, Jessica;
Jagdhuhn, David;
Waterstradt, Rica;
Baltrusch, Simone;
Simeonov, Anton;
Collins, Francis S.;
Hegele, Robert A.;
Gloyn, Anna L.

Publication type:

Article

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

Published in:

Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0628-8

By:

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

Publication type:

Article

Safe use of the ketogenic diet in an infant with microcephaly, epilepsy, and diabetes syndrome: a case report.

Published in:

BMC Pediatrics, 2023, v. 23, n. 1, p. 1, doi. 10.1186/s12887-023-04272-y

By:

Zegarra, Walter A.;
Gallentine, William B.;
Ruzhnikov, Maura R.;
McAndrews, Catherine A.;
Gloyn, Anna L.;
Addala, Ananta

Publication type:

Article

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.

Published in:

PLoS Genetics, 2015, v. 11, n. 12, p. 1, doi. 10.1371/journal.pgen.1005694

By:

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

Publication type:

Article

Correlation of rare coding variants in the gene encoding human glucokinase regulatory protein with phenotypic, cellular, and kinetic outcomes.

Published in:

Journal of Clinical Investigation, 2012, v. 122, n. 1, p. 205, doi. 10.1172/JCI46425

By:

Rees, Matthew G.;
Ng, David;
Ruppert, Sarah;
Turner, Clesson;
Beer, Nicola L.;
Swift, Amy J.;
Morken, Mario A.;
Below, Jennifer E.;
Blech, Ilana;
Mullikin, James C.;
McCarthy, Mark I.;
Biesecker, Leslie G.;
Gloyn, Anna L.;
Collins, Francis S.

Publication type:

Article

The P446L variant in GCKR associated with fasting plasma glucose and triglyceride levels exerts its effect through increased glucokinase activity in liver.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 21, p. 4081, doi. 10.1093/hmg/ddp357

By:

Beer, Nicola L.;
Tribble, Nicholas D.;
McCulloch, Laura J.;
Roos, Charlotta;
Johnson, Paul R.V.;
Orho-Melander, Marju;
Gloyn, Anna L.

Publication type:

Article

Relapsing diabetes can result from moderately activating mutations in KCNJ11.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 7, p. 925, doi. 10.1093/hmg/ddi086

By:

Gloyn, Anna L.;
Reimann, Frank;
Girard, Christophe;
Edghill, Emma L.;
Proks, Peter;
Pearson, Ewan R.;
Temple, I. Karen;
Mackay, Deborah J.G.;
Shield, Julian P.H.;
Freedenberg, Debra;
Noyes, Kathryn;
Ellard, Sian;
Ashcroft, Frances M.;
Gribble, Fiona M.;
Hattersley, Andrew T.

Publication type:

Article

Standardized Measurement of Type 1 Diabetes Polygenic Risk Across Multiancestry Population Cohorts.

Published in:

2025

By:

Luckett, Amber M.;
Oram, Richard A.;
Deutsch, Aaron J.;
Ortega, Hector I.;
Fraser, Diane P.;
Ashok, Kaavya;
Manning, Alisa K.;
Mercader, Josep M.;
Rivas, Manuel A.;
Udler, Miriam S.;
Weedon, Michael N.;
Gloyn, Anna L.;
Sharp, Seth A.

Publication type:

Letter

Monogenic diabetes: a gateway to precision medicine in diabetes.

Published in:

2021

By:

Haichen Zhang;
Colclough, Kevin;
Gloyn, Anna L.;
Pollin, Toni I.;
Zhang, Haichen

Publication type:

journal article

Isocitrate-to-SENP1 signaling amplifies insulin secretion and rescues dysfunctional β cells.

Published in:

2015

By:

Ferdaoussi, Mourad;
Xiaoqing Dai;
Jensen, Mette V.;
Runsheng Wang;
Peterson, Brett S.;
Chao Huang;
Ilkayeva, Olga;
Smith, Nancy;
Miller, Nathanael;
Hajmrle, Catherine;
Spigelman, Aliya F.;
Wright, Robert C.;
Plummer, Gregory;
Kunimasa Suzuki;
Mackay, James P.;
van de Bunt, Martijn;
Gloyn, Anna L.;
Ryan, Terence E.;
Norquay, Lisa D.;
Brosnan, M. Julia

Publication type:

journal article

Reclassification of diabetes etiology in a family with multiple diabetes phenotypes.

Published in:

2014

By:

Kavvoura, Fotini K;
Raimondo, Anne;
Thanabalasingham, Gayathiry;
Barrett, Amy;
Webster, Amanda L;
Shears, Debbie;
Mann, Nicholas P;
Ellard, Sian;
Gloyn, Anna L;
Owen, Katharine R

Publication type:

journal article