2013-14

Weedon MN, Ellard S, Prindle MJ, Caswell R, Lango Allen H, Oram R, Godbole K, Yajnik CS, Sbraccia P, Novelli G, Turnpenny P, McCann E, Goh KJ, Wang Y, Fulford J, McCulloch LJ, Savage DB, O'Rahilly S, Kos K, Loeb LA, Semple RK, Hattersley AT. 2013. An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy. Nat Genet. 45(8); 947 - 950

 

Strain WD, Hughes AD, Mayet J, Wright AR, Kooner J, Chaturvedi N, Shore AC. 2013. Attenuated systemic microvascular function in men with coronary artery disease is associated with angina but not explained by atherosclerosis. Microcirculation. 20(7); 670 - 677

 

Nowak N, Szopa M, Thanabalasingham G, McDonald TJ, Colclough K, Skupien J, James TJ, Kiec-Wilk B, Kozek E, Mlynarski W, Hattersley AT, Owen KR, Malecki MT. 2013. Cystatin C is not a good candidate biomarker for HNF1A-MODYACTA. DIABETOLOGICA. 50(5); 815 - 820

 

Shields BM, Knight BA, Hill AV, Hattersley AT, Vaidya B. 2013. Five-year follow-up for women with subclinical hypothyroidism in pregnancy. J Clin Endocrinol Metab. 98(12); E1941 - E1945

 

Chidnok W, Fulford J, Bailey SJ, Dimenna FJ, Skiba PF, Vanhatalo A, Jones AM. 2013. Muscle metabolic determinants of exercise tolerance following exhaustion: relationship to the "critical power". J Appl Physiol (1985). 115(2); 243 - 250

 

Chidnok W, DiMenna FJ, Fulford J, Bailey SJ, Skiba PF, Vanhatalo A, Jones AM. 2013. Muscle metabolic responses during high-intensity intermittent exercise measured by (31)P-MRS: relationship to the critical power concept. Am J Physiol Regul Integr Comp Physiol. 305(9); R1085 - R1092

 

McDonald TJ, Ellard S. 2013. Maturity onset diabetes of the young: identification and diagnosis. Ann Clin Biochem. 50(Pt 5); 403 - 415

 

Pihoker C, Gilliam LK, Ellard S, Dabelea D, Davis C, Dolan LM, Greenbaum CJ, Imperatore G, Lawrence JM, Marcovina SM, Mayer-Davis E, Rodriguez BL, Steck AK, Williams DE, Hattersley AT, SEARCH for Diabetes in Youth Study Group. 2013. Prevalence, characteristics and clinical diagnosis of maturity onset diabetes of the young due to mutations in HNF1A, HNF4A, and glucokinase: results from the SEARCH for Diabetes in Youth. J Clin Endocrinol Metab. 98(10); 4055 - 4062

 

Alkhouli N, Mansfield J, Green E, Bell J, Knight B, Liversedge N, Tham JC, Welbourn R, Shore AC, Kos K, Winlove CP. 2013. The mechanical properties of human adipose tissues and their relationships to the structure and composition of the extracellular matrix. Am J Physiol Endocrinol Metab. 305(12); E1427 - E1435

 

Morrison FS, Locke JM, Wood AR, Tuke M, Pasko D, Murray A, Frayling T, Harries LW. 2013. The splice site variant rs11078928 may be associated with a genotype-dependent alteration in expression of GSDMB transcripts. BMC Genomics. 14(); 627

 

Hope SV, Jones AG, Goodchild E, Shepherd M, Besser RE, Shields B, McDonald T, Knight BA, Hattersley A. 2013. Urinary C-peptide creatinine ratio detects absolute insulin deficiency in Type 2 diabetes. Diabet Med. 30(11); 1342 - 1348

 

Steele AM, Wensley KJ, Ellard S, Murphy R, Shepherd M, Colclough K, Hattersley AT, Shields BM.. 2013. Use of HbA1c in the identification of patients with hyperglycaemia caused by a glucokinase mutation: observational case control studies. PLoS One. 8(6); e65326

 

Ellard S, Flanagan, Sarah E, De Franco, Elisa, Lango Allen, Hana, Zera, Michele, Abdul-Rasoul, Majedah M, Edge, Julie A, Stewart, Helen, Alamiri, Elham, Hussain, Khalid, Wallis, Sam, de Vries, Liat, Rubio-Cabezas, Oscar, Houghton, Jayne A, Edghill, Emma L, Patch, Ann-Marie, Hattersley, Andrew T. 2014. Analysis of transcription factors central for mouse pancreatic development establish NKX2-2 and MNX1 mutations as novel causes of neonatal diabetes in man. Cell Metabolism. 19(1); 146 - 154

 

Stride A, Shields B, Gill-Carey O, Chakera AJ, Colclough K, Ellard S, Hattersley AT. 2014. Cross-sectional and longitudinal studies suggest pharmacological treatment used in patients with glucokinase mutations does not alter glycaemia. Diabetologia. 57(1); 54 - 56

 

Koivula RW, Heggie A, Barnett A, Cederberg H, Hansen TH, Koopman AD, Ridderstråle M, Rutters F, Vestergaard H, Gupta R, Herrgård S, Heymans MW, Perry MH, Rauh S, Siloaho M, Teare HJA, Thorand B, Bell J, Brunak S, Frost G, Jablonka B, Mari A, McDonald TJ, Dekker JM, Hansen T, Hattersley A, Laakso M, Pedersen O, Koivisto V, Ruetten H, Walker M, Pearson E, Franks PW. 2014. Discovery of biomarkers for glycaemic deterioration before and after the onset of type 2 diabetes: rationale and design of the epidemiological studies within the IMI DIRECT Consortium. Diabetologia (2014) 57:1132–1142

 

Jones AG, McDonald TJ, Hattersley AT, Shields BM. 2014. Effect of the holiday season in patients with diabetes: Glycemia and lipids increase postholiday, but the effect is small and transient. Diabetes Care. 37(5)

 

Pienaar PR, Micklesfield LK, Levitt NS, Gooding K, Shore AC, Goedecke JH, Gill JMR, Lambert EV. 2014. Insulin Resistance Is Associated with Lower Acetylcholine-Induced Microvascular Reactivity in Nondiabetic Women. Metabolic Syndrome and Related Disorders. 12(3); 178 - 184

 

Steele AM, Shields BM, Wensley KJ, Colclough K, Ellard S, Hattersley AT. 2014. Prevalence of vascular complications among patients with glucokinase mutations and prolonged, mild hyperglycemia. JAMA. 311(3); 279 - 286

 

Weedon MN, Cebola I, Patch AM, Flanagan SE, De Franco E, Caswell R, Rodríguez-Seguí SA, Shaw-Smith C, Cho CH, Lango Allen H, Houghton JA, Roth CL, Chen R, Hussain K, Marsh P, Vallier L, Murray A, International Pancreatic Agenesis Consortium, Ellard S, Ferrer J, Hattersley AT. 2014. Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis. Nat Genet. 46(1); 61 - 64

 

Shepherd M, Colclough K, Ellard S, Hattersley AT. 2014. Ten years of the national genetic diabetes nurse network: a model for the translation of genetic information into clinical care. Clin Med. 14(2); 117 - 121

 

Hamilton AJ, Bingham C, McDonald TJ, Cook PR, Caswell RC, Weedon MN, Oram RA, Shields BM, Shepherd M, Inward CD, Hamilton-Shield JP, Kohlhase J, Ellard S, Hattersley AT. 2014. The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype. J Med Genet. 51(3); 165 - 169

 

Oram RA, Jones AG, Besser REJ, Knight BA, Shields BM, Brown RJ, Hattersley AT, McDonald TJ. 2014. The majority of patients with long-duration type 1 diabetes are insulin microsecretors and have functioning beta cells. Diabetologia. 57(1); 187 - 191

 

Adingupu DD, Elyas S, Casanova F, Gates PE, Shore AC, Strain WD. 2013. Microvascular autoregulatory response to ischaemia and pulse pressure. JOURNAL OF HUMAN HYPERTENSION. 27(10); 652 - 653

 

Adingupu DD, Thorn C, Casanova F, Elyas S, Gates PE, Strain WD, Shore AC. 2013. Microvascular autoregulatory response to ischaemia in the skin and association with mean blood oxygen saturation. JOURNAL OF HUMAN HYPERTENSION. 27(10); 640 - 641

 

Chakera AJ, Spyer G, Vincent N, Ellard S, Hattersley AT, Dunne FP. 2014. The 0.1% of the population with glucokinase monogenic diabetes can be recognized by clinical characteristics in pregnancy: the atlantic diabetes in pregnancy cohort. Diabetes Care. 37(5); 1230 - 1236

 

Perry E, Stenton C, Kelly C, Eggleton P, Hutchinson D, De Soyza A.  2014. RA-autoantibodies as predictors of Rheumatoid Arthritis in non-CF Bronchiectasis patients.  European Respiratory Journal (in press)

 

Clark CE, Steele AM, Taylor RS, Shore AC, Ukoumunne OC, Campbell JL. 2013. Interarm blood pressure difference in people with diabetes: measurement and vascular and mortality implications: a cohort study Diabetes Care. 2014 Jun;37(6):1613-20

 

Peters JL, Anderson R, Hyde C. Development of an economic evaluation of diagnostic strategies: the case of monogenic diabetes. BMJ Open 2013 May 28: 3(5): e002905. PMID:23793674