Works by Gloyn, Anna L.

Results: 93

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

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

PAX4 loss of function increases diabetes risk by altering human pancreatic endocrine cell development.

Published in:

Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-41860-z

By:

Lau, Hwee Hui;
Krentz, Nicole A. J.;
Abaitua, Fernando;
Perez-Alcantara, Marta;
Chan, Jun-Wei;
Ajeian, Jila;
Ghosh, Soumita;
Lee, Yunkyeong;
Yang, Jing;
Thaman, Swaraj;
Champon, Benoite;
Sun, Han;
Jha, Alokkumar;
Hoon, Shawn;
Tan, Nguan Soon;
Gardner, Daphne Su-Lyn;
Kao, Shih Ling;
Tai, E. Shyong;
Gloyn, Anna L.;
Teo, Adrian Kee Keong

Publication type:

Article

Reflecting on a Year at the Helm of Diabetes Care.

Published in:

2024

By:

Kahn, Steven E.;
Anderson, Cheryl A.M.;
Buse, John B.;
Selvin, Elizabeth;
Angell, Sonia Y.;
Aroda, Vanita R.;
Cheng, Alice Y.Y.;
Danne, Thomas;
Echouffo-Tcheugui, Justin B.;
Fitzpatrick, Stephanie L.;
Gadgil, Meghana D.;
Gastaldelli, Amalia;
Gloyn, Anna L.;
Green, Jennifer B.;
Jastreboff, Ania M.;
Kanaya, Alka M.;
Kandula, Namratha R.;
Kovesdy, Csaba P.;
Laiteerapong, Neda;
Nadeau, Kristen J.

Publication type:

Editorial

Response to Comment on Misra et al. Homozygous Hypomorphic Alleles Are a Novel Cause of Young-Onset Diabetes and Result in Sulfonylurea-Sensitive Diabetes. Diabetes Care 2020;43:909-912.

Published in:

2020

By:

Misra, Shivani;
Hassanali, Neelam;
Bennett, Amanda J.;
Juszczak, Agata;
Caswell, Richard;
Colclough, Kevin;
Valabhji, Jonathan;
Ellard, Sian;
Oliver, Nicholas S.;
Gloyn, Anna L.

Publication type:

Letter

Homozygous Hypomorphic Alleles Are a Novel Cause of Young-Onset Diabetes and Result in Sulfonylurea-Sensitive Diabetes.

Published in:

2020

By:

Misra, Shivani;
Hassanali, Neelam;
Bennett, Amanda J.;
Juszczak, Agata;
Caswell, Richard;
Colclough, Kevin;
Valabhji, Jonathan;
Ellard, Sian;
Oliver, Nicholas S.;
Gloyn, Anna L.

Publication type:

journal article

Plasma Fucosylated Glycans and C-Reactive Protein as Biomarkers of HNF1A-MODY in Young Adult-Onset Nonautoimmune Diabetes.

Published in:

2019

By:

Juszczak, Agata;
Pavić, Tamara;
Vučković, Frano;
Bennett, Amanda J.;
Shah, Neha;
Medvidović, Edita Pape;
Groves, Christopher J.;
Šekerija, Mario;
Chandler, Kyla;
Burrows, Carla;
Putarek, Nataša Rojnić;
Lovrenčić, Marijana Vučić;
Knežević, Jadranka Ćuća;
James, Tim J.;
Gloyn, Anna L.;
Lauc, Gordan;
McCarthy, Mark I.;
Owen, Katharine R.;
Gornik, Olga;
Pape Medvidović, Edita

Publication type:

journal article

Recognition and Management of Individuals With Hyperglycemia Because of a Heterozygous Glucokinase Mutation.

Published in:

Diabetes Care, 2015, v. 38, n. 7, p. 1383, doi. 10.2337/dc14-2769

By:

Chakera, Ali J.;
Steele, Anna M.;
Gloyn, Anna L.;
Shepherd, Maggie H.;
Shields, Beverley;
Ellard, Sian;
Hattersley, Andrew T.

Publication type:

Article

A gating mutation at the internal mouth of the Kir6.2 pore is associated with DEND syndrome.

Published in:

EMBO Reports, 2005, v. 6, n. 5, p. 470, doi. 10.1038/sj.embor.7400393

By:

Proks, Peter;
Girard, Christophe;
Haider, Shozeb;
Gloyn, Anna L.;
Hattersley, Andrew T.;
Sansom, Mark S. P.;
Ashcroft, Frances M.

Publication type:

Article

Management of Neonatal Diabetes due to a KCNJ11 Mutation with Automated Insulin Delivery System and Remote Patient Monitoring.

Published in:

2023

By:

Lee, Ming Yeh;
Gloyn, Anna L.;
Maahs, David M.;
Prahalad, Priya

Publication type:

Case Study

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

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

Published in:

Diabetes Care, 2012, v. 35, n. 7, p. 1482, doi. 10.2337/dc11-2420

By:

Beer, Nicola L.;
Osbak, Kara K.;
De Bunt, Martijn Van;
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.

Publication type:

Article

Response to Comment on: McDonald et al. High-Sensitivity CRP Discriminates HNF1A-MODY From Other Subtypes of Diabetes. Diabetes Care 2011;34: 1860-1862.

Published in:

2011

By:

BLANCO, JESÚS;
COSTA, ANGELS;
GIMÉNEZ, MARGA;
CONGET, IGNACIO;
MCDONALD, TIM J.;
OWEN, KATHARINE R.;
GLOYN, ANNA L.;
HATTERSLEY, ANDREW T.

Publication type:

Letter

High-Sensitivity CRP Discriminates HNF1A-MODY From Other Subtypes of Diabetes.

Published in:

Diabetes Care, 2011, v. 34, n. 8, p. 1860, doi. 10.2337/dc11-0323

By:

MCDONALD, TIM J.;
SHIELDS, BEVERLEY M.;
LAWRY, JANE;
OWEN, KATHARINE R.;
GLOYN, ANNA L.;
ELLARD, SIAN;
HATTERSLEY, ANDREW T.

Publication type:

Article

Assessment of high-sensitivity C-reactive protein levels as diagnostic discriminator of maturity-onset diabetes of the young due to HNF1A mutations.

Published in:

2010

By:

Owen KR;
Thanabalasingham G;
James TJ;
Karpe F;
Farmer AJ;
McCarthy MI;
Gloyn AL;
Owen, Katharine R;
Thanabalasingham, Gaya;
James, Timothy J;
Karpe, Fredrik;
Farmer, Andrew J;
McCarthy, Mark I;
Gloyn, Anna L

Publication type:

journal article

Assessment of High-Sensitivity C-Reactive Protein Levels as-Diagnostic Discriminator of Maturity-Onset Diabetes of the Young Due to HNF1A Mutations.

Published in:

Diabetes Care, 2010, v. 33, n. 9, p. 1919, doi. 10.2337/dc10-0288

By:

OWEN, KATHARINE R.;
THANABALASINGHAM, GAYA;
JAMES, TIMOTHY J.;
KARPE, FREDRIK;
FARMER, ANDREW J.;
MCCARTHY, MARK I.;
GLOYN, ANNA L.

Publication type:

Article

Evaluation of serum 1,5 anhydroglucitol levels as a clinical test to differentiate subtypes of diabetes.

Published in:

2010

By:

Pal A;
Farmer AJ;
Dudley C;
Selwood MP;
Barrow BA;
Klyne R;
Grew JP;
McCarthy MI;
Gloyn AL;
Owen KR;
Pal, Aparna;
Farmer, Andrew J;
Dudley, Christina;
Selwood, Mary P;
Barrow, Beryl A;
Klyne, Rhiannon;
Grew, Jilly P;
McCarthy, Mark I;
Gloyn, Anna L;
Owen, Katharine R

Publication type:

journal article

Evaluation of Serum 1, 5 Anhydroglucitol Levels as a Clinical Test to Differentiate Subtypes of Diabetes.

Published in:

Diabetes Care, 2010, v. 33, n. 2, p. 252, doi. 10.2337/dc09-1246

By:

Pal, Aparna;
Farmer, Andrew J.;
Dudley, Christina;
Selwood, Mary P.;
Barrow, Beryl A.;
Klyne, Rhiannon;
Grew, Jilly P.;
McCarthy, Mark I.;
Gloyn, Anna L.;
Owen, Katharine R.

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

Electrophysiological Characterization of Inducible Pluripotent Stem Cell–Derived Human β-Like Cells and an SLC30A8 Disease Model.

Published in:

Diabetes, 2024, v. 73, n. 8, p. 1255, doi. 10.2337/db23-0776

By:

Jaffredo, Manon;
Krentz, Nicole A.J.;
Champon, Benoite;
Duff, Claire E.;
Nawaz, Sameena;
Beer, Nicola;
Honore, Christian;
Clark, Anne;
Rorsman, Patrik;
Lang, Jochen;
Gloyn, Anna L.;
Raoux, Matthieu;
Hastoy, Benoit

Publication type:

Article

2050-P: A Multiomics Investigation of a Patient-Derived HNF-1A MODY IPSC Disease Model Reveals Insights into Its Role in Pancreatic Islet Development and Function.

Published in:

Diabetes, 2020, v. 69, p. N.PAG, doi. 10.2337/db20-2050-P

By:

DUFF, CLAIRE;
JENSEN, RIKKE REJNHOLDT;
PEREZ-ALCANTARA, MARTA;
RASMUSSEN, MIKKEL;
GROTZ, ANTJE;
JANSEN, MAX;
HOLST, BJØRN;
CLAUSEN, CHRISTIAN;
KRENTZ, NICOLE A.J.;
HANSSON, MATTIAS;
MCCARTHY, MARK I.;
GLOYN, ANNA L.;
WESOLOWSKA-ANDERSEN, AGATA;
HONORE, CHRISTIAN

Publication type:

Article

3-LB: The Type 2 Diabetes-Associated Transcription Factor RREB1 Affects Beta-Cell Function and Development.

Published in:

Diabetes, 2019, v. 68, p. N.PAG, doi. 10.2337/db19-3-LB

By:

MATTIS, KATIA K.;
ABAITUA, FERNANDO;
GROTZ, ANTJE;
WESOLOWSKA-ANDERSEN, AGATA;
PEREZ-ALCANTARA, MARTA;
MCCARTHY, MARK;
MAHAJAN, ANUBHA;
DAVIES, BENJAMIN;
GLOYN, ANNA L.

Publication type:

Article

309-OR: Deep Learning Model of Pancreatic Islet Epigenome Refines Association Signals at Type 2 Diabetes Susceptibility Loci.

Published in:

Diabetes, 2019, v. 68, p. N.PAG, doi. 10.2337/db19-309-OR

By:

WESOLOWSKA-ANDERSEN, AGATA;
THURNER, MATTHIAS;
MAHAJAN, ANUBHA;
ABAITUA, FERNANDO;
TORRES, JASON;
NYLANDER, VIBE;
GLOYN, ANNA L.;
MCCARTHY, MARK

Publication type:

Article

25-OR: Investigating a Candidate Causal Allele in Type 2 Diabetes Susceptibility Gene PAM as a Cause of Neonatal Diabetes Mellitus.

Published in:

Diabetes, 2019, v. 68, p. N.PAG, doi. 10.2337/db19-25-OR

By:

SENGUPTA, SHAHANA;
BONNYCASTLE, LORI L.;
HASTOY, BENOIT;
GROTZ, ANTJE;
UMAPATHYSIVAM, MAHESH M.;
RAIMONDO, ANNE;
SWIFT, AMY;
CHINES, PETER S.;
CLARK, ANNE;
HUOPIO, HANNA;
COLLINS, FRANCIS S.;
LAAKSO SR., MARKKU;
GLOYN, ANNA L.

Publication type:

Article

A Partial Loss-of-Function Variant in Is Associated With Reduced Insulin-Mediated Glucose Uptake in Multiple Insulin-Sensitive Tissues: A Genotype-Based Callback Positron Emission Tomography Study.

Published in:

2018

By:

Latva-Rasku, Aino;
Honka, Miikka-Juhani;
Stancáková, Alena;
Koistinen, Heikki A.;
Kuusisto, Johanna;
Li Guan;
Manning, Alisa K.;
Stringham, Heather;
Gloyn, Anna L.;
Lindgren, Cecilia M.;
Collins, Francis S.;
Mohlke, Karen L.;
Scott, Laura J.;
Karjalainen, Tomi;
Nummenmaa, Lauri;
Boehnke, Michael;
Nuutila, Pirjo;
Laakso, Markku;
Stančáková, Alena;
Guan, Li

Publication type:

journal article

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

Published in:

2016

By:

Thomsen, Soren K.;
Ceroni, Alessandro;
de Bunt, Martijn van;
Burrows, Carla;
Barrett, Amy;
Scharfmann, Raphael;
Ebner, Daniel;
McCarthy, Mark I.;
Gloyn, Anna L.;
van de Bunt, Martijn

Publication type:

journal 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

Analysis of the co-operative interaction between the allosterically regulated proteins GK and GKRP using tryptophan fluorescence.

Published in:

Biochemical Journal, 2014, v. 459, n. 3, p. 551, doi. 10.1042/BJ20131363

By:

ZELENT, Bogumil;
RAIMONDO, Anne;
BARRETT, Amy;
BUETTGER, Carol W.;
CHEN, Pan;
GLOYN, Anna L.;
MATSCHINSKY, Franz M.

Publication type:

Article

Comprehensive Human Adipose Tissue mRNA and MicroRNA Endogenous Control Selection for Quantitative Real-Time-PCR Normalization.

Published in:

Obesity (19307381), 2011, v. 19, n. 4, p. 888, doi. 10.1038/oby.2010.257

By:

Neville, Matt J.;
Collins, Jenny M.;
Gloyn, Anna L.;
McCarthy, Mark I.;
Karpe, Fredrik

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

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

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

Book Review Genetics for Endocrinologists: The Molecular Genetic Basis of Endocrine Disorders.

Published in:

2003

By:

McCarthy, Mark I.;
Gloyn, Anna L.;
Gittoes, Neil

Publication type:

Book Review

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

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

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

The importance of Context: Uncovering Species- and Tissue-Specific Effects of Genetic Risk Variants for Type 2 Diabetes.

Published in:

Frontiers in Endocrinology, 2016, v. 7, p. 1, doi. 10.3389/fendo.2016.00112

By:

Thomsen, Soren K.;
McCarthy, Mark I.;
Gloyn, Anna L.

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

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

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

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