S
Sian Ellard
Researcher at University of Exeter
Publications - 659
Citations - 42046
Sian Ellard is an academic researcher from University of Exeter. The author has contributed to research in topics: Diabetes mellitus & Missense mutation. The author has an hindex of 97, co-authored 636 publications receiving 36847 citations. Previous affiliations of Sian Ellard include Royal Devon and Exeter Hospital & Murphy Oil.
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Journal ArticleDOI
A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity
Timothy M. Frayling,Nicholas J. Timpson,Michael N. Weedon,Eleftheria Zeggini,Eleftheria Zeggini,Eleftheria Zeggini,Rachel M. Freathy,Cecilia M. Lindgren,John R. B. Perry,Katherine S. Elliott,Katherine S. Elliott,Hana Lango,Nigel W. Rayner,Nigel W. Rayner,Nigel W. Rayner,Beverley M. Shields,Lorna W. Harries,Jeffrey C. Barrett,Jeffrey C. Barrett,Sian Ellard,Christopher J. Groves,Christopher J. Groves,Bridget A. Knight,Ann-Marie Patch,Andy R Ness,Shah Ebrahim,Debbie A Lawlor,Susan M. Ring,Yoav Ben-Shlomo,Marjo-Riitta Järvelin,Marjo-Riitta Järvelin,Ulla Sovio,Ulla Sovio,Amanda J. Bennett,Amanda J. Bennett,David Melzer,Luigi Ferrucci,Ruth J. F. Loos,Inês Barroso,Nicholas J. Wareham,Fredrik Karpe,Fredrik Karpe,Katharine R. Owen,Katharine R. Owen,Lon R. Cardon,Mark Walker,Graham A. Hitman,Graham A. Hitman,Colin N. A. Palmer,Colin N. A. Palmer,Alex S. F. Doney,Alex S. F. Doney,Andrew D. Morris,George Davey Smith,Andrew T. Hattersley,Mark I. McCarthy +55 more
TL;DR: A genome-wide search for type 2 diabetes–susceptibility genes identified a common variant in the FTO (fat mass and obesity associated) gene that predisposes to diabetes through an effect on body mass index (BMI).
Journal ArticleDOI
Replication of Genome-Wide Association Signals in UK Samples Reveals Risk Loci for Type 2 Diabetes
Eleftheria Zeggini,Michael N. Weedon,Cecilia M. Lindgren,Timothy M. Frayling,Katherine S. Elliott,Hana Lango,Nicholas J. Timpson,John R. B. Perry,Nigel W. Rayner,Rachel M. Freathy,Jeffrey C. Barrett,Beverley M. Shields,Andrew P. Morris,Sian Ellard,Christopher J. Groves,Lorna W. Harries,Jonathan Marchini,Katharine R. Owen,Beatrice Knight,Lon R. Cardon,Mark Walker,Graham A. Hitman,Andrew D. Morris,Alex S. F. Doney,Mark I. McCarthy,Andrew T. Hattersley +25 more
TL;DR: These findings provide insight into the genetic architecture of type 2 diabetes, emphasizing the contribution of multiple variants of modest effect and underscore the importance of pathways influencing pancreatic beta cell development and function in the etiology of type 1 diabetes.
Journal ArticleDOI
Activating Mutations in the Gene Encoding the ATP-Sensitive Potassium-Channel Subunit Kir6.2 and Permanent Neonatal Diabetes
Anna L. Gloyn,Ewan R. Pearson,Jennifer F. Antcliff,Peter Proks,G. Jan Bruining,Annabelle S. Slingerland,Neville J. Howard,Shubha Srinivasan,Jose M. C. L Silva,Janne Molnes,Emma L. Edghill,Timothy M. Frayling,I. Karen Temple,Deborah J G Mackay,Julian P.H. Shield,Zdenek Sumnik,Adrian van Rhijn,Jerry Wales,Penelope M. Clark,Shaun Gorman,Javier Aisenberg,Sian Ellard,Pål R. Njølstad,Frances M. Ashcroft,Andrew T. Hattersley +24 more
TL;DR: Heterozygous activating mutations in the gene encoding Kir6.2 cause permanent neonatal diabetes and may also be associated with developmental delay, muscle weakness, and epilepsy, and Identification of the genetic cause of permanent newborn diabetes may facilitate the treatment of this disease with sulfonylureas.
Journal ArticleDOI
Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations.
Ewan R. Pearson,Isabelle Flechtner,Pål R. Njølstad,Maciej T. Malecki,Sarah E. Flanagan,Brian Larkin,Frances M. Ashcroft,Iwar Klimes,Ethel Codner,Violeta Iotova,Annabelle S. Slingerland,Julian P.H. Shield,Jean-Jacques Robert,Jens J. Holst,P. M. Clark,Sian Ellard,Oddmund Søvik,Michel Polak,Andrew T. Hattersley +18 more
TL;DR: Sulfonylurea therapy is safe in the short term for patients with diabetes caused by KCNJ11 mutations and is probably more effective than insulin therapy, and may result from the closing of mutant K(ATP) channels, thereby increasing insulin secretion in response to incretins and glucose metabolism.
Journal ArticleDOI
Mutations in the glucokinase gene of the fetus result in reduced birth weight.
Andrew T. Hattersley,Frances Beards,Elizabeth Ballantyne,Maggie Appleton,Rod Harvey,Sian Ellard +5 more
TL;DR: Variation in fetal growth could be used in the assessment of the role of genes which modify either insulin secretion or insulin action in childhood and adulthood.