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Anna Gloyn

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Mary E Travers; Andrew Berry; Marloes Dekker Nitert; Leif C Groop; Neil Hanley; Paul R Johnson; Cecilia M Lindgren; Deborah J G Mackay; Mark I McCarthy; Andrew P Morris; Anna L Gloyn
Insights into the molecular mechanism for type 2 diabetes susceptibility at the KCNQ1 locus from temporal changes in imprinting status in human islets.
Mark I McCarthy; Patrik Rorsman; Anna L Gloyn
TCF7L2 and diabetes: a tale of two tissues, and of two species.
S A Mughal; N Nowak; R Park; M Stoffel; Anna L Gloyn; F Karpe; Maciej T Malecki; H Matile; Mark I McCarthy; Katharine R Owen
Apolipoprotein M can discriminate HNF1A-MODY from Type 1 diabetes.

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2013: Mary E Travers; Andrew Berry; Marloes Dekker Nitert; Leif C Groop; Neil Hanley; Paul R Johnson; Cecilia M Lindgren; Deborah J G Mackay; Mark I McCarthy; Andrew P Morris; Anna L Gloyn
Insights into the molecular mechanism for type 2 diabetes susceptibility at the KCNQ1 locus from temporal changes in imprinting status in human islets.
Diabetes 2013;62(3):987-92.
2013: Mark I McCarthy; Patrik Rorsman; Anna L Gloyn
TCF7L2 and diabetes: a tale of two tissues, and of two species.
Cell metabolism 2013;17(2):157-9.
2013: S A Mughal; N Nowak; R Park; M Stoffel; Anna L Gloyn; F Karpe; Maciej T Malecki; H Matile; Mark I McCarthy; Katharine R Owen
Apolipoprotein M can discriminate HNF1A-MODY from Type 1 diabetes.
Diabetic medicine : a journal of the British Diabetic Association 2013;30(2):246-50.
2013: Martijn van de Bunt; Ignasi Moran; Leopold Parts; Jorge Ferrer; Kyle J Gaulton; Anna L Gloyn; Paul R Johnson; Cecilia M Lindgren; Mark I McCarthy
The miRNA profile of human pancreatic islets and beta-cells and relationship to type 2 diabetes pathogenesis.
PloS one 2013;8(1):e55272.
2013: Matthew G Rees; Anna L Gloyn
Small molecular glucokinase activators: has another new anti-diabetic therapeutic lost favour?
British journal of pharmacology 2013;168(2):335-8.
2012: Balrik Kailey; Patrick E MacDonald; Patrik Rorsman; Martijn van de Bunt; Stephen Cheley; Anna L Gloyn; Paul R Johnson; Matthias Braun
SSTR2 is the functionally dominant somatostatin receptor in human pancreatic β- and α-cells.
American journal of physiology. Endocrinology and metabolism 2012;303(9):E1107-16.
2012: Aparna Pal; Simon A Rudge; Martijn Van de Bunt; Michael J O Wakelam; Lisa Walker; Qifeng Zhang; Fredrik Karpe; Katherine L Lachlan; Jonathan C Levy; Helen Linden; Thomas M Barber; Nicola S Cooper; Anna L Gloyn
PTEN mutations as a cause of constitutive insulin sensitivity and obesity.
The New England journal of medicine 2012;367(11):1002-11.
2012: M van de Bunt; Anna L Gloyn
A tale of two glucose transporters: how GLUT2 re-emerged as a contender for glucose transport into the human beta cell.
Diabetologia 2012;55(9):2312-5.
2012: Nicola L Beer; Kevin Colcough; Emma L Edghill; Sian Ellard; Amy Barrett; Joseph Grimsby; Kara K Osbak; Anne Raimondo; Jana K Rundle; Anna M Steele; Nicholas D Tribble; Lucia Valentínová; Martijn van de Bunt; Kirsty J Wensley; Anna L Gloyn
Insights into the pathogenicity of rare missense GCK variants from the identification and functional characterization of compound heterozygous and double mutations inherited in cis.
Diabetes care 2012;35(7):1482-4.
2012: Anders H Rosengren; Albert Salehi; Makoto Shigeto; Yunzhao Tang; Mary E Travers; Jonathan N Walker; Enming Zhang; Peter Almgren; Sofia A Andersson; Annika S Axelsson; Amy Barrett; Matthias Braun; Anna Edlund; Anna L Gloyn; Leif Groop; Paul R V Johnson; Anna Jonsson; Claes Ladenvall; Valeriya Lyssenko; Taman Mahdi; Mark I McCarthy; Morten Gram Pedersen; Reshma Ramracheya; Erik Renström; Patrik Rorsman; Lena Eliasson
Reduced insulin exocytosis in human pancreatic β-cells with gene variants linked to type 2 diabetes.
Diabetes 2012;61(7):1726-33.
2012: Anna L Gloyn; Francis Lam; Daniel Malmodin; Mark I McCarthy; Katharine R Owen; Gaya Thanabalasingham; Per Magne Ueland; Johan H Faber; Dorrit Baunsgaard
Metabolic profiling in Maturity-onset diabetes of the young (MODY) and young onset type 2 diabetes fails to detect robust urinary biomarkers.
PloS one 2012;7(7):e40962.
2012: Lucia Valentínová; Martijn van de Bunt; Amy Barrett; Nicola L Beer; Daniela Gašperíková; Miroslava Hučková; Iwar Klimeš; Juraj Staník; Nicholas D Tribble; Anna L Gloyn
Identification and functional characterisation of novel glucokinase mutations causing maturity-onset diabetes of the young in Slovakia.
PloS one 2012;7(4):e34541.
2012: M G Rees; J Schultz; R Waterstradt; S Wincovitch; S Baltrusch; N L Beer; F S Collins; Anna L Gloyn
Cellular characterisation of the GCKR P446L variant associated with type 2 diabetes risk.
Diabetologia 2012;55(1):114-22.
2011: Laura J McCulloch; Martijn van de Bunt; Matthias Braun; Anne Clark; Keith N Frayn; Anna L Gloyn
GLUT2 (SLC2A2) is not the principal glucose transporter in human pancreatic beta cells: implications for understanding genetic association signals at this locus.
Molecular genetics and metabolism 2011;104(4):648-53.
2011: Gaya Thanabalasingham; E Tjora; T Tuomi; M Vaxillaire; O Pedersen; Helge Raeder; N Shah; J Stanik; Magdalena Szopa; E Andersson; P Froguel; S Gaget; D Gašperíková; Anna L Gloyn; L Groop; T Hansen; B Isomaa; T J James; I Klimes; P Kokko; F Loiseleur; Maciej T Malecki; Mark I McCarthy; P R Njolstad; N Nowak; K R Owen
A large multi-centre European study validates high-sensitivity C-reactive protein (hsCRP) as a clinical biomarker for the diagnosis of diabetes subtypes.
Diabetologia 2011;54(11):2801-10.
2011: Timothy James McDonald; Katharine R Owen; Beverley M Shields; Sian Ellard; Anna L Gloyn; Jane Lawry; Andrew T Hattersley
High-sensitivity CRP discriminates HNF1A-MODY from other subtypes of diabetes.
Diabetes care 2011;34(8):1860-2.
2011: A M Steele; N D Tribble; K J Wensley; R Caswell; Anna L Gloyn; Andrew T Hattersley; Sian Ellard
The previously reported T342P GCK missense variant is not a pathogenic mutation causing MODY.
Diabetologia 2011;54(8):2202-5.
2011: Nicola L Beer; Martijn van de Bunt; Kevin Colclough; Christine Lukacs; Paul Arundel; Constance L Chik; Joseph Grimsby; Sian Ellard; Anna L Gloyn
Discovery of a novel site regulating glucokinase activity following characterization of a new mutation causing hyperinsulinemic hypoglycemia in humans.
The Journal of biological chemistry 2011;286(21):19118-26.
2011: Matt J Neville; Jenny M Collins; Anna L Gloyn; Mark I McCarthy; Fredrik Karpe
Comprehensive human adipose tissue mRNA and microRNA endogenous control selection for quantitative real-time-PCR normalization.
Obesity (Silver Spring, Md.) 2011;19(4):888-92.
2011: B Jafar-Mohammadi; Christopher J Groves; A P Gjesing; B M Herrera; W Winckler; H M Stringham; Andrew P Morris; torsten lauritzen; Alex S F Doney; Andrew D Morris; Michael Weedon; A J Swift; J Kuusisto; M Laakso; D Altshuler; Andrew T Hattersley; F S Collins; M Boehnke; T Hansen; O Pedersen; C N A Palmer; Timothy M Frayling; Anna L Gloyn; Mark I McCarthy
A role for coding functional variants in HNF4A in type 2 diabetes susceptibility.
Diabetologia 2011;54(1):111-9.
2010: Martijn van de Bunt; Anna L Gloyn
From genetic association to molecular mechanism.
Current diabetes reports 2010;10(6):452-66.
2010: Katharine R Owen; Gaya Thanabalasingham; Timothy J James; Fredrik Karpe; Andrew J Farmer; Mark I McCarthy; Anna L Gloyn
Assessment of high-sensitivity C-reactive protein levels as diagnostic discriminator of maturity-onset diabetes of the young due to HNF1A mutations.
Diabetes care 2010;33(9):1919-24.
2010: Anna L Gloyn; Mark I McCarthy
Variation across the allele frequency spectrum.
Nature genetics 2010;42(8):648-50.
2010: B M Herrera; Helen E Lockstone; J M Taylor; M Ria; A Barrett; S Collins; P Kaisaki; Karène Argoud; C Fernandez; M E Travers; J P Grew; J C Randall; Anna L Gloyn; Dominique Gauguier; Mark I McCarthy; C M Lindgren
Global microRNA expression profiles in insulin target tissues in a spontaneous rat model of type 2 diabetes.
Diabetologia 2010;53(6):1099-109.
2010: Aparna Pal; Andrew Farmer; Christina Dudley; Mary P Selwood; BA Barrow; Rhiannon Klyne; Jilly P Grew; Mark I McCarthy; Anna L Gloyn; Katharine R Owen
Evaluation of serum 1,5 anhydroglucitol levels as a clinical test to differentiate subtypes of diabetes.
Diabetes care 2010;33(2):252-7.
2010: Shi-Ying Ding; Nicholas D Tribble; Catherine A Kraft; Michele Markwardt; Anna L Gloyn; Mark A Rizzo
Naturally occurring glucokinase mutations are associated with defects in posttranslational S-nitrosylation.
Molecular endocrinology (Baltimore, Md.) 2010;24(1):171-7.
2009: Sara G I Suliman; Juraj Stanik; Laura J McCulloch; Natalie Wilson; Emma L Edghill; Nadezda Misovicova; Daniela Gasperikova; Vilja Sandrikova; Katherine S Elliott; Lubomir Barak; Sian Ellard; Emanuela V Volpi; Iwar Klimes; Anna L Gloyn
Severe insulin resistance and intrauterine growth deficiency associated with haploinsufficiency for INSR and CHN2: new insights into synergistic pathways involved in growth and metabolism.
Diabetes 2009;58(12):2954-61.
2009: Anna L Gloyn
RD Lawrence Lecture 2009. Old genes, new tricks: learning about blood glucose regulation from naturally occurring genetic variation in humans.
Diabetic medicine : a journal of the British Diabetic Association 2009;26(11):1083-9.
2009: Kara K Osbak; Kevin Colclough; Cecile Saint-Martin; Nicola L Beer; Christine Bellanné-Chantelot; Sian Ellard; Anna L Gloyn
Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia.
Human mutation 2009;30(11):1512-26.
2009: Nicola L Beer; Nicholas D Tribble; Laura J McCulloch; Charlotta Roos; Paul R V Johnson; Marju Orho-Melander; Anna L Gloyn
The P446L variant in GCKR associated with fasting plasma glucose and triglyceride levels exerts its effect through increased glucokinase activity in liver.
Human molecular genetics 2009;18(21):4081-8.
2009: Kevin S C Hamming; Daniel Soliman; Laura C Matemisz; Omid Niazi; Yiqiao Lang; Anna L Gloyn; Peter E Light
Coexpression of the type 2 diabetes susceptibility gene variants KCNJ11 E23K and ABCC8 S1369A alter the ATP and sulfonylurea sensitivities of the ATP-sensitive K(+) channel.
Diabetes 2009;58(10):2419-24.
2009: Daniela Gasperíková; Nicolas D Tribble; Juraj Staník; Miroslava Hucková; Nadezda Misovicová; Martijn van de Bunt; Lucia Valentínová; Beryl A Barrow; L'ubomir Barák; Radoslav Dobránsky; Eva Bereczková; Jozef Michálek; Kate Wicks; Kevin Colclough; Julian C Knight; Sian Ellard; Iwar Klimes; Anna L Gloyn
Identification of a novel beta-cell glucokinase (GCK) promoter mutation (-71G>C) that modulates GCK gene expression through loss of allele-specific Sp1 binding causing mild fasting hyperglycemia in humans.
Diabetes 2009;58(8):1929-35.
2009: Anna L Gloyn; Matthias Braun; Patrik Rorsman
Type 2 diabetes susceptibility gene TCF7L2 and its role in beta-cell function.
Diabetes 2009;58(4):800-2.
2009: Sarah Flanagan; Séverine Clauin; Christine Bellanné-Chantelot; Pascale de Lonlay; Lorna W Harries; Anna L Gloyn; Sian Ellard
Update of mutations in the genes encoding the pancreatic beta-cell K(ATP) channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism.
Human mutation 2009;30(2):170-80.
2009: Lorna W Harries; James E Brown; Anna L Gloyn
Species-specific differences in the expression of the HNF1A, HNF1B and HNF4A genes.
PloS one 2009;4(11):e7855.
2009: Bahram Jafar-Mohammadi; Christopher J Groves; Katharine R Owen; Timothy M Frayling; Andrew T Hattersley; Mark I McCarthy; Anna L Gloyn
Low frequency variants in the exons only encoding isoform A of HNF1A do not contribute to susceptibility to type 2 diabetes.
PloS one 2009;4(8):e6615.
2009: Anna L Gloyn; M van de Bunt; Irene M Stratton; Lorne Lonie; L Tucker; Sian Ellard; Rury R Holman
Prevalence of GCK mutations in individuals screened for fasting hyperglycaemia.
Diabetologia 2009;52(1):172-4.
2008: Anna L Gloyn; Mark I McCarthy
Genetics: how the UKPDS contributed to determining the genetic landscape of Type 2 diabetes.
Diabetic medicine : a journal of the British Diabetic Association 2008;25 Suppl 2():35-40.
2008: Doga Turkkahraman; Iffet Bircan; Nicholas D Tribble; Sema Akçurin; Sian Ellard; Anna L Gloyn
Permanent neonatal diabetes mellitus caused by a novel homozygous (T168A) glucokinase (GCK) mutation: initial response to oral sulphonylurea therapy.
The Journal of pediatrics 2008;153(1):122-6.
2008: Henrik Christesen; Nicholas D Tribble; Anders Molven; Juveria Siddiqui; Tone Sandal; Klaus Brusgaard; Sian Ellard; Pål R Njølstad; Jan Alm; Bendt Brock-Jacobsen; Khalid Hussain; Anna L Gloyn
Activating glucokinase (GCK) mutations as a cause of medically responsive congenital hyperinsulinism: prevalence in children and characterisation of a novel GCK mutation.
European journal of endocrinology / European Federation of Endocrine Societies 2008;159(1):27-34.
2008: Anna L Gloyn; Nicholas D Tribble; Martijn van de Bunt; Amy Barrett; Paul R V Johnson
Glucokinase (GCK) and other susceptibility genes for beta-cell dysfunction: the candidate approach.
Biochemical Society transactions 2008;36(Pt 3):306-11.
2008: Martijn van de Bunt; Emma L Edghill; Khalid Hussain; Sian Ellard; Anna L Gloyn
Gene duplications resulting in over expression of glucokinase are not a common cause of hypoglycaemia of infancy in humans.
Molecular genetics and metabolism 2008;94(2):268-9.
2008: P Katulanda; C J Groves; A Barrett; R Sheriff; D R Matthews; M I McCarthy; Anna L Gloyn
Prevalence and clinical characteristics of maternally inherited diabetes and deafness caused by the mt3243A > G mutation in young adult diabetic subjects in Sri Lanka.
Diabetic medicine : a journal of the British Diabetic Association 2008;25(3):370-4.
2007: Sarah Flanagan; Ann-Marie Patch; Deborah J G Mackay; Emma L Edghill; Anna L Gloyn; David Robinson; Julian P H Shield; Karen Temple; Sian Ellard; Andrew T Hattersley
Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood.
Diabetes 2007;56(7):1930-7.
2007: Catherine Arden; Alison Trainer; Núria de la Iglesia; Kathleen T Scougall; Anna L Gloyn; Alex J Lange; James A M Shaw; Franz M Matschinsky; Loranne Agius
Cell biology assessment of glucokinase mutations V62M and G72R in pancreatic beta-cells: evidence for cellular instability of catalytic activity.
Diabetes 2007;56(7):1773-82.
2007: Thomas M Barber; Amanda J Bennett; Anna L Gloyn; Christopher J Groves; Ulla Sovio; Aimo Ruokonen; Hannu Martikainen; Anneli Pouta; Saara Taponen; Michael Weedon; Anna-Liisa Hartikainen; J A H Wass; Marjo-Riitta Järvelin; Eleftheria Zeggini; Stephen Franks; Mark I McCarthy
Relationship between E23K (an established type II diabetes-susceptibility variant within KCNJ11), polycystic ovary syndrome and androgen levels.
European journal of human genetics : EJHG 2007;15(6):679-84.
2007: Emma L Edghill; Anna L Gloyn; Anne Goriely; Lorna W Harries; Sarah Flanagan; Julia Rankin; Andrew T Hattersley; Sian Ellard
Origin of de novo KCNJ11 mutations and risk of neonatal diabetes for subsequent siblings.
The Journal of clinical endocrinology and metabolism 2007;92(5):1773-7.
2006: Anna L Gloyn; Sian Ellard
Defining the genetic aetiology of monogenic diabetes can improve treatment.
Expert opinion on pharmacotherapy 2006;7(13):1759-67.
2006: Anna L Gloyn; Deborah J G Mackay; Michael Weedon; Mark I McCarthy; Mark Walker; Graham A Hitman; Bridget A Knight; Katharine R Owen; Andrew T Hattersley; Timothy M Frayling
Assessment of the role of common genetic variation in the transient neonatal diabetes mellitus (TNDM) region in type 2 diabetes: a comparative genomic and tagging single nucleotide polymorphism approach.
Diabetes 2006;55(8):2272-6.
2006: Anna L Gloyn; Catherine Diatloff-Zito; Emma L Edghill; Christine Bellanné-Chantelot; Sylvie Nivot; Régis Coutant; Sian Ellard; Andrew T Hattersley; Jean-Jacques Robert
KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features.
European journal of human genetics : EJHG 2006;14(7):824-30.
2006: Sarah Flanagan; Emma L Edghill; Anna L Gloyn; Sian Ellard; Andrew T Hattersley
Mutations in KCNJ11, which encodes Kir6.2, are a common cause of diabetes diagnosed in the first 6 months of life, with the phenotype determined by genotype.
Diabetologia 2006;49(6):1190-7.
2006: Anna L Gloyn; Juveria Siddiqui; Sian Ellard
Mutations in the genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) in diabetes mellitus and hyperinsulinism.
Human mutation 2006;27(3):220-31.
2005: Peter Proks; Christophe Girard; haider shozeb; Anna L Gloyn; Andrew T Hattersley; Mark S P Sansom; Frances M Ashcroft
A gating mutation at the internal mouth of the Kir6.2 pore is associated with DEND syndrome.
EMBO reports 2005;6(5):470-5.
2005: Anna L Gloyn; Stella Odili; Dorothy Zelent; Carol Buettger; Harriet A J Castleden; Anna M Steele; Amanda Stride; Chiyo Shiota; Mark Magnuson; Renata Lorini; Giuseppe d'Annunzio; Charles A Stanley; Jae Kwagh; Emile Van Schaftingen; Maria Veiga-da-Cunha; Fabrizio Barbetti; Pete Dunten; Yi Han; Joseph Grimsby; Rebecca Taub; Sian Ellard; Andrew T Hattersley; Franz M Matschinsky
Insights into the structure and regulation of glucokinase from a novel mutation (V62M), which causes maturity-onset diabetes of the young.
The Journal of biological chemistry 2005;280(14):14105-13.
2005: Anna L Gloyn; Frank Reimann; Christophe Girard; Emma L Edghill; Peter Proks; Ewan R Pearson; I Karen Temple; Deborah J G Mackay; Julian P H Shield; Debra Freedenberg; Kathryn Noyes; Sian Ellard; Frances M Ashcroft; Fiona M Gribble; Andrew T Hattersley
Relapsing diabetes can result from moderately activating mutations in KCNJ11.
Human molecular genetics 2005;14(7):925-34.
2005: Ornella Massa; Dario Iafusco; Elena D'Amato; Anna L Gloyn; Andrew T Hattersley; Bruno Pasquino; Giorgio Tonini; Francesco Dammacco; Giorgio Zanette; Franco Meschi; Ottavia Porzio; Gian Franco Bottazzo; Antonino Crinó; Renata Lorini; Franco Cerutti; Maurizio Vanelli; Fabrizio Barbetti
KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes.
Human mutation 2005;25(1):22-7.
2004: Peter Proks; Jennifer F Antcliff; Jonathan D Lippiat; Anna L Gloyn; Andrew T Hattersley; Frances M Ashcroft
Molecular basis of Kir6.2 mutations associated with neonatal diabetes or neonatal diabetes plus neurological features.
Proceedings of the National Academy of Sciences of the United States of America 2004;101(50):17539-44.
2004: Gabrielle Sellick; Karen T Barker; Irene Stolte-Dijkstra; Christina Fleischmann; Richard J Coleman; Christine Garrett; Anna L Gloyn; Emma L Edghill; Andrew T Hattersley; Peter K Wellauer; Graham Goodwin; richard Houlston
Mutations in PTF1A cause pancreatic and cerebellar agenesis.
Nature genetics 2004;36(12):1301-5.
2004: Emma L Edghill; Anna L Gloyn; Kathleen M Gillespie; A Paul Lambert; Neil T Raymond; Peter G Swift; Sian Ellard; Edwin A M Gale; Andrew T Hattersley
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.
Diabetes 2004;53(11):2998-3001.
2004: Martine Vaxillaire; Céline Populaire; Kanetee Busiah; Hélène Cavé; Anna L Gloyn; Andrew T Hattersley; Paul Czernichow; philippe froguel; Michel Polak
Kir6.2 mutations are a common cause of permanent neonatal diabetes in a large cohort of French patients.
Diabetes 2004;53(10):2719-22.
2004: Jørn V Sagen; Helge Raeder; Eba H Hathout; Naim Shehadeh; Kolbeinn Gudmundsson; Halvor Baevre; Dianne Abuelo; Chanika Phornphutkul; Janne Molnes; Graeme I Bell; Anna L Gloyn; Andrew T Hattersley; Anders Molven; Oddmund Søvik; Pål R Njølstad
Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to sulfonylurea therapy.
Diabetes 2004;53(10):2713-8.
2004: Anna L Gloyn; Elizabeth A Cummings; Emma L Edghill; Lorna W Harries; Rachel Scott; Teresa Costa; I Karen Temple; Andrew T Hattersley; Sian Ellard
Permanent neonatal diabetes due to paternal germline mosaicism for an activating mutation of the KCNJ11 Gene encoding the Kir6.2 subunit of the beta-cell potassium adenosine triphosphate channel.
The Journal of clinical endocrinology and metabolism 2004;89(8):3932-5.
2004: Anna L Gloyn; Ewan R Pearson; Jennifer F Antcliff; Peter Proks; G Jan Bruining; Annabelle S Slingerland; Neville Howard; Shubha Srinivasan; José M C L Silva; Janne Molnes; Emma L Edghill; Timothy M Frayling; I Karen Temple; Deborah Mackay; Julian P H Shield; Zdenek Sumnik; Adrian van Rhijn; J K H Wales; Penny Clark; Shaun Gorman; Javier Aisenberg; Sian Ellard; Pål R Njølstad; Frances M Ashcroft; Andrew T Hattersley
Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes.
The New England journal of medicine 2004;350(18):1838-49.
2003: K L Thomson; Anna L Gloyn; Kevin Colclough; M Batten; Lisa I S Allen; F Beards; Andrew T Hattersley; Sian Ellard
Identification of 21 novel glucokinase (GCK) mutations in UK and European Caucasians with maturity-onset diabetes of the young (MODY).
Human mutation 2003;22(5):417.
2003: Anna L Gloyn
Glucokinase (GCK) mutations in hyper- and hypoglycemia: maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemia of infancy.
Human mutation 2003;22(5):353-62.
2003: Anna L Gloyn; Kees Noordam; Michèl A A P Willemsen; Sian Ellard; Wayne W K Lam; Ian W Campbell; Paula Midgley; Chiyo Shiota; Carol Buettger; Mark Magnuson; Franz M Matschinsky; Andrew T Hattersley
Insights into the biochemical and genetic basis of glucokinase activation from naturally occurring hypoglycemia mutations.
Diabetes 2003;52(9):2433-40.
2003: Michael Weedon; Anna L Gloyn; Timothy M Frayling; A T Hattersley; G Davey Smith; Y Ben-Shlomo
Quantitative traits associated with the Type 2 diabetes susceptibility allele in Kir6.2.
Diabetologia 2003;46(7):1021-3.
2003: Anna L Gloyn
The search for type 2 diabetes genes.
Ageing research reviews 2003;2(2):111-27.
2003: Anna L Gloyn; Michael Weedon; Katharine R Owen; Martina J Turner; Bridget A Knight; Graham A Hitman; Mark Walker; Jonathan C Levy; Mike Sampson; Stephanie Halford; Mark I McCarthy; Andrew T Hattersley; Timothy M Frayling
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.
Diabetes 2003;52(2):568-72.
2002: Anna L Gloyn; Sian Ellard; Maggie Shepherd; Rodney T Howell; Elizabeth M Parry; Andrew Jefferson; Elaine R Levy; Andrew T Hattersley
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.
Diabetes 2002;51(7):2329-33.
2002: Timothy M Frayling; Andrew T Hattersley; Anne McCarthy; Jeff Holly; Simon M S Mitchell; Anna L Gloyn; Katharine R Owen; David Davies; George Davey Smith; Yoav Ben-Shlomo
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.
Diabetes 2002;51(7):2313-6.
2002: Simon M S Mitchell; Anna L Gloyn; Katharine R Owen; Andrew T Hattersley; Timothy M Frayling
The role of the HNF4alpha enhancer in type 2 diabetes.
Molecular genetics and metabolism 2002;76(2):148-51.
2002: Anna L Gloyn; Minal Desai; Anne Clark; Jonathan C Levy; Rury R Holman; Timothy M Frayling; Andrew T Hattersley; Stephen J H Ashcroft
Human calcium/calmodulin-dependent protein kinase II gamma gene (CAMK2G): cloning, genomic structure and detection of variants in subjects with type II diabetes.
Diabetologia 2002;45(4):580-3.
2002: Anna L Gloyn; Sian Ellard; Julian P H Shield; I Karen Temple; Deborah J G Mackay; M Polak; T Barrett; Andrew T Hattersley
Complete glucokinase deficiency is not a common cause of permanent neonatal diabetes.
Diabetologia 2002;45(2):290.
2001: Anna L Gloyn; M I McCarthy
The genetics of type 2 diabetes.
Best practice & research. Clinical endocrinology & metabolism 2001;15(3):293-308.
2001: Anna L Gloyn; Stephen J H Ashcroft
The beta-cell Ca2+/calmodulin-dependent protein kinase II (CaM kinase II) beta3 isoform containing a proline-rich tandem repeat in the association domain can be found in the human genome.
Diabetologia 2001;44(6):787.
2001: Anna L Gloyn; Y Hashim; Stephen J H Ashcroft; R Ashfield; Steven Wiltshire; RC Turner
Association studies of variants in promoter and coding regions of beta-cell ATP-sensitive K-channel genes SUR1 and Kir6.2 with Type 2 diabetes mellitus (UKPDS 53).
Diabetic medicine : a journal of the British Diabetic Association 2001;18(3):206-12.