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Publications 2014-2015

Health Category

Publication

Cardiovascular Adingupu DD, Thorn CE, Casanova F, Elyas S, Gooding K, Gilchrist M, Aizawa K, Gates PE, Shore AC, Strain WD. 2015. Blood oxygen saturation after ischemia is altered with abnormal microvascular reperfusion. Microcirculation (Epub ahead of print)
Clark C, Casanova F, Gooding K, Pamphilon N, Aizawa K, Mawson D, Adingupu D, Ball C, Worthington F, Elyas S, Strain D, Gates P, Shore A, Campbell J. 2014. Inter-arm blood pressure difference and differences in arterial stiffness. Journal of Human Hypertension, 28 (10); 626 – 627
Lewandowski AJ, Davis EF, Yu G, Digby JE, Boardman H, Whitworth P, Singhal A, Lucas A, McCormick K, Shore AC, Leeson P. 2015. Elevated blood pressure in preterm-born offspring associates with a distinct antiangiogenic state and microvascular abnormalities in adult life. Hypertension, 65 (3); 607 – 614
Clark C, Shore A, Taylor R, Campbell J. 2014. Prevalence of an inter-arm blood pressure difference and survival implications in community based populations: an updated analysis. Journal of Human Hypertension, 28 (10); 637 – 637
Pienaar PR, Micklesfield LK, Gill JM, Shore AC, Gooding KM, Levitt NS, Lambert EV. 2014-07. Ethnic differences in microvascular function in apparently healthy South African men and women. Exp Physiol, 99 (7); 985 – 994
Ripley DP, Kannoly S, Gosling OE, Hossain E, Chawner RR, Moore J, Shore AC, Bellenger NG. 2014-04. Safety and feasibility of dobutamine stress cardiac magnetic resonance for cardiovascular assessment prior to renal transplantation. J Cardiovasc Med (Hagerstown), 15 (4); 288 – 294
Eye Gooding KM, Shore AC, Ling R, Agardh E. 2014. An evaluation of different methods of normalising fovea thickness measurements from optical coherence tomography instruments. Diabetologia, 57; S473 – S473
Genetics Ellard S, Kivuva E, Turnpenny P, Stals K, Johnson M, Xie W, Caswell R, Lango Allen H. 2015. An exome sequencing strategy to diagnose lethal autosomal recessive disorders. Eur J Hum Genet, 23 (3); 401 – 404
Flanagan SE, Haapaniemi E, Russell MA, Caswell R, Lango Allen H, De Franco E, McDonald TJ, Rajala H, Ramelius A, Barton J, Heiskanen K, Heiskanen-Kosma T, Kajosaari M, Murphy NP, Milenkovic T, Seppänen M, Lernmark Å, Mustjoki S, Otonkoski T, Kere J, Morgan NG, Ellard S, Hattersley AT. 2014. Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease. Nat Genet, 46 (8); 812 – 814
Inflammatory and Immune Systems Heap GA, Weedon MN, Bewshea CM, Singh A, Chen M, Satchwell JB, Vivian JP, So K, Dubois PC, Andrews JM, Annese V, Bampton P, Barnardo M, Bell S, Cole A, Connor SJ, Creed T, Cummings FR, D’Amato M, Daneshmend TK, Fedorak RN, Florin TH, Gaya DR, Greig E, Halfvarson J, Hart A, Irving PM, Jones G, Karban A, Lawrance IC, Lee JC, Lees C, Lev-Tzion R, Lindsay JO, Mansfield J, Mawdsley J, Mazhar Z, Parkes M, Parnell K, Orchard TR, Radford-Smith G, Russell RK, Reffitt D, Satsangi J, Silverberg MS, Sturniolo GC, Tremelling M, Tsianos EV, van Heel DA, Walsh A, Watermeyer G, Weersma RK, Zeissig S, Rossjohn J, Holden AL; International Serious Adverse Events Consortium; IBD Pharmacogenetics Study Group, Ahmad T. 2014. HLA-DQA1-HLA-DRB1 variants confer susceptibility to pancreatitis induced by thiopurine immunosuppressants. Nat Genet. 46(10):1131-4
Metabolic and Endocrine Babiker T, Chakera AJ, Shepherd M, Hattersley AT. 2014. A diagnostic approach for defining idiopathic remitting diabetes: a retrospective cohort study. BMC Endocr Disord, 14; 45
Clark CE, Steele AM, Taylor RS, Shore AC, Ukoumunne OC, Campbell JL. 2014. Interarm Blood Pressure Difference in People With Diabetes: Measurement and Vascular and Mortality Implications A Cohort Study. Diabetes care, 37 (6); 1613 – 1620
Gilchrist M, Winyard PG, Fulford J, Anning C, Shore AC, Benjamin N. 2014. Dietary nitrate supplementation improves reaction time in type 2 diabetes: development and application of a novel nitrate-depleted beetroot juice placebo. Nitric Oxide, 40; 67 – 74
Identifying good responders to glucose lowering therapy in type 2 diabetes: implications for stratified medicine.
Jones AG, Shields BM, Hyde CJ, Henley WE, Hattersley AT. PLoS One. 2014 Oct 23;9(10)
Knight B, Shields B, Hattersley A, Yajnik C. 2014. PMM.52 Lower circulating B12 in pregnancy is associated with higher maternal adiposity and insulin resistance in non-diabetic Caucasian women during and after pregnancy. Arch Dis Child Fetal Neonatal Ed, 99 Suppl 1; A140
Knight B, Shields B, Vaidya B. 2014. PMM.59 Maternal hypothyroxinaemia in pregnancy is associated with altered maternal metabolic parameters. Arch Dis Child Fetal Neonatal Ed, 99 Suppl 1; A142
COL6A3 is regulated by leptin in human adipose tissue and reduced in obesity.
McCulloch LJ, Rawling TJ, Sjöholm K, Franck N, Dankel SN, Price EJ, Knight B, Liversedge NH, Mellgren G, Nystrom F, Carlsson LM, Kos K. Endocrinology. 2015 Jan;156(1):134-46
Diagnostic confusion? Repeat HbA1c for the diagnosis of diabetes. McDonald TJ, Warren R. Diabetes Care. 2014 Jun;37(6):e135-6. doi: 10.2337/dc14-0055. No abstract available.  PMID:24855169
Oram RA, McDonald TJ, Shields BM, Hudson MM, Shepherd MH, Hammersley S, Pearson ER, Hattersley AT, UNITED Team. 2015. Most people with long-duration type 1 diabetes in a large population-based study are insulin microsecretors. Diabetes Care, 38 (2); 323 – 328
Home urine C-peptide creatinine ratio can be used to monitor islet transplant function. Oram RA, Brooks AM, Forbes S, Eckoldt S, Smith RM, Choudhary P, Rosenthal MJ, Johnson P, Rutter MK, Burling KA, McDonald TJ, Shaw JA, Hattersley AT. Diabetes Care. 2014 Jun;37(6):1737-40. doi: 10.2337/dc13-1266. Epub 2014 Mar 12
Raimondo A, Chakera AJ, Thomsen SK, Colclough K, Barrett A, De Franco E, Chatelas A, Demirbilek H, Akcay T, Alawneh H, International NDM Consortium, Flanagan SE, Van De Bunt M, Hattersley AT, Gloyn AL, Ellard S, International NDM Consortium. 2014. Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability. Hum Mol Genet, 23 (24); 6432 – 6440
Shore AC, Colhoun HM, Natali A, Palombo C, Östling G, Aizawa K, Kennbäck C, Casanova F, Persson M, Gooding K, Gates PE, Kahn F, Looker HC, Adams F, Belch J, Pinnoli S, Venturi E, Morizzo C, Goncalves I, Ladenvall C, Nilsson J, The SUMMIT consortium. 2015. Measures of atherosclerotic burden are associated with clinically manifest cardiovascular disease in type 2 diabetes: a European cross-sectional study. J Intern Med  (Epub ahead of print)
Wessel J, Chu AY, Willems SM, Wang S, Yaghootkar H, Brody JA, Dauriz M, Hivert MF, Raghavan S, Lipovich L, Hidalgo B, Fox K, Huffman JE, An P, Lu Y, Rasmussen-Torvik LJ, Grarup N, Ehm MG, Li L, Baldridge AS, Stančáková A, Abrol R, Besse C, Boland A, Bork-Jensen J, Fornage M, Freitag DF, Garcia ME, Guo X, Hara K, Isaacs A, Jakobsdottir J, Lange LA, Layton JC, Li M, Hua Zhao J, Meidtner K, Morrison AC, Nalls MA, Peters MJ, Sabater-Lleal M, Schurmann C, Silveira A, Smith AV, Southam L, Stoiber MH, Strawbridge RJ, Taylor KD, Varga TV, Allin KH, Amin N, Aponte JL, Aung T, Barbieri C, Bihlmeyer NA, Boehnke M, Bombieri C, Bowden DW, Burns SM, Chen Y, Chen YD, Cheng CY, Correa A, Czajkowski J, Dehghan A, Ehret GB, Eiriksdottir G, Escher SA, Farmaki AE, Frånberg M, Gambaro G, Giulianini F, Goddard WA, Goel A, Gottesman O, Grove ML, Gustafsson S, Hai Y, Hallmans G, Heo J, Hoffmann P, Ikram MK, Jensen RA, Jørgensen ME, Jørgensen T, Karaleftheri M, Khor CC, Kirkpatrick A, Kraja AT, Kuusisto J, Lange EM, Lee IT, Lee WJ, Leong A, Liao J, Liu C, Liu Y, Lindgren CM, Linneberg A, Malerba G, Mamakou V, Marouli E, Maruthur NM, Matchan A, McKean-Cowdin R, McLeod O, Metcalf GA, Mohlke KL, Muzny DM, Ntalla I, Palmer ND, Pasko D, Peter A, Rayner NW, Renström F, Rice K, Sala CF, Sennblad B, Serafetinidis I, Smith JA, Soranzo N, Speliotes EK, Stahl EA, Stirrups K, Tentolouris N, Thanopoulou A, Torres M, Traglia M, Tsafantakis E, Javad S, Yanek LR, Zengini E, Becker DM, Bis JC, Brown JB, Cupples LA, Hansen T, Ingelsson E, Karter AJ, Lorenzo C, Mathias RA, Norris JM, Peloso GM, Sheu WH, Toniolo D, Vaidya D, Varma R, Wagenknecht LE, Boeing H, Bottinger EP, Dedoussis G, Deloukas P, Ferrannini E, Franco OH, Franks PW, Gibbs RA, Gudnason V, Hamsten A, Harris TB, Hattersley AT, Hayward C, Hofman A, Jansson JH, Langenberg C, Launer LJ, Levy D, Oostra BA, O’Donnell CJ, O’Rahilly S, Padmanabhan S, Pankow JS, Polasek O, Province MA, Rich SS, Ridker PM, Rudan I, Schulze MB, Smith BH, Uitterlinden AG, Walker M, Watkins H, Wong TY, Zeggini E, EPIC-InterAct Consortium, Laakso M, Borecki IB, Chasman DI, Pedersen O, Psaty BM, Tai ES, van Duijn CM, Wareham NJ, Waterworth DM, Boerwinkle E, Kao WH, Florez JC, Loos RJ, Wilson JG, Frayling TM, Siscovick DS, Dupuis J, Rotter JI, Meigs JB, Scott RA, Goodarzi MO. 2015. Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility. Nat Commun, 6; 5897
Chakera AJ, Raimondo A, Homsen S, Colclough K, Barrett A, De-Franco E, Chatelas A, van de Bunt M, Flanagan SE, Hattersley AT, Ellard S, Gloyn AL. 2014. The phenotypic severity of homozygous GCK mutations causing neonatal or adolescent-onset diabetes is mediated through thermostability in addition to enzyme activity. Diabetologia, 57; S155 – S155
Kavvoura FK, Raimondo A, Thanabalasingham G, Barrett A, Webster AL, Shears D, Mann NP, Ellard S, Gloyn AL, Owen KR. 2014. Reclassification of diabetes etiology in a family with multiple diabetes phenotypes. J Clin Endocrinol Metab, 99 (6); E1067 – E1071
Shaw-Smith C, De Franco E, Lango Allen H, Batlle M, Flanagan SE, Borowiec M, Taplin CE, van Alfen-van der Velden J, Cruz-Rojo J, Perez de Nanclares G, Miedzybrodzka Z, Deja G, Wlodarska I, Mlynarski W, Ferrer J, Hattersley AT, Ellard S. 2014. GATA4 mutations are a cause of neonatal and childhood-onset diabetes. Diabetes, 63 (8); 2888 – 2894
De Franco E, Flanagan SE, Houghton JAL, Lango Allen H, Mackay DJG2, Temple IK, Ellard S and Hattersley AT.  Genomic testing leads clinical care in neonatal diabetes: a new paradigm.  Lancet 2015 in press
Musculoskeletal Dietary nitrate accelerates postexercise muscle metabolic recovery and O2 delivery in hypoxia. Vanhatalo A, Jones AM, Blackwell JR, Winyard PG, Fulford J. J Appl Physiol (1985). 2014 Dec 15;117(12):1460-70. doi: 10.1152/japplphysiol.00096.2014. Epub 2014 Oct 9. PMID: 25301896
Renal and Urogenital Clissold RL, Hamilton AJ, Hattersley AT, Ellard S, Bingham C. 2015. HNF1B-associated renal and extra-renal disease-an expanding clinical spectrum. Nat Rev Nephrol, 11 (2); 102 – 112
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