2012-13

Xie W, Wood AR, Lyssenko V, Weedon MN, Knowles JW, Alkayyali S, Assimes TL, Quertermous T, Abbasi F, Paananen J, Häring H, Hansen T, Pedersen O, Smith U, Laakso M, Dekker JM, Nolan JJ, Groop L, Ferrannini E, Adam KP, Gall WE, Frayling TM, Walker M. Genetic variants associated with glycine metabolism and their role in insulin sensitivity and type 2 diabetes. Diabetes 2013

 

Taal HR, et al. Common variants at 12q15 and 12q24 are associated with infant head circumference. Nat Genet. 2012 44(5) 532-538

 

Urbanek M, Hayes MG, Lee H, Freathy RM, Lowe LP, Ackerman C, Jafari N, Dyer AR, Cox NJ, Dunger DB, Hattersley AT, Metzger BE, Lowe WL Jr.  The role of inflammatory pathway genetic variation on maternal metabolic phenotypes during pregnancy. PLoS One 2012 7(3)

 

Horikoshi M, Yaghootkar H, Mook-Kanamori. New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism. Nature Genetics 2013 45, 76-82

 

Tyrell et al. Genetic variation in the 15q25 nicotinic acetylcholine receptor gene cluster (CHRNA5-CHRNA3-CHRNB4) interacts with maternal self-reported smoking status during pregnancy to influence birth weight.  Hum Mol Genet 2012 21(24) 5344-58

 

McDonald TJ, McEneny J, Pearson ER, Thanabalasingham G, Szopa M, Shields BM, Ellard S, Owen KR, Malecki MT, Hattersley AT, Young IS.  Lipoprotein composition in HNF1A-MODY: Differentiating between HNF1A-MODY and Type 2 diabetes. Clin Chim Acta. 2012 May 18;413(9-10):927-32

 

Besser RE, Jones J, McDonald TJ, Smith R, Shepherd MH, Hattersley AT.  Using highly sensitive C-reactive protein measurement to diagnose MODY in a family with suspected type 2 diabetes.  BMJ Case Rep. 2012 Jul 11;2012

 

McDonald TJ, Perry MH, Peake RW, Pullan NJ, O'Connor J, Shields BM, Knight BA, Hattersley AT. EDTA improves stability of whole blood C-peptide and insulin to over 24 hours at room temperature. PLoS One. 2012;7(7):e42084. doi: 10.1371/journal.pone.0042084

 

Shields BM, McDonald TJ, Ellard S, Campbell MJ, Hyde C, Hattersley AT.  The development and validation of a clinical prediction model to determine the probability of MODY in patients with young-onset diabetes. Diabetologia. 2012 May;55(5):1265-72. doi: 10.1007/s00125-011-2418-8

 

Jones AG, Hattersley AT. The clinical utility of C-peptide measurement in the care of patients with diabetes.  Diabet Med. 2013 Feb 18. doi: 10.1111/dme.12159. [Epub ahead of print]

 

Shields BM, Peters JL, Cooper C, Powell RJ, Knight BA, Hyde C, Hattersley AT  Identifying clinical criteria to predict Type 1 diabetes, as defined by absolute insulin deficiency: a systematic review protocol.  BMJ Open. 2012 Dec 28;2(6). pii: e002309. doi: 10.1136/bmjopen-2012-002309. Print 2012

 

Jones AG, Knight BA, Baker GC, Hattersley AT.  Practical implications of choice of test in National Institute for Health and Clinical Excellence (NICE) guidance for the prevention of Type 2 diabetes. Diabet Med. 2013 Jan;30(1):126-7

 

Holly AC, Melzer D, Pilling LC, Henley W, Hernandez DG, Singleton AB, Bandinelli S, Guralnik JM, Ferrucci L, Harries LW. Towards a gene expression biomarker set for human biological age. Ageing 2013 324-326

 

 

Beer NL, Osbak KK, van de Bunt M, Tribble ND, Steele AM, Wensley KJ, Edghill EL, Colcough K, Barrett A, Valentínová L, Rundle JK, Raimondo A, Grimsby J, Ellard S, Gloyn AL.. 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 Jul;35(7):1482-4

 

De Franco E, Shaw-Smith C, Flanagan SE, Shepherd MH; International NDM Consortium, Hattersley AT, Ellard S. GATA6 Mutations Cause a Broad Phenotypic Spectrum of Diabetes From Pancreatic Agenesis to Adult-Onset Diabetes Without Exocrine Insufficiency.  Diabetes 2013 Mar;62(3):993-7

 

De Franco E, Shaw-Smith C, Flanagan SE, Edghill EL, Wolf J, Otte V, Ebinger F, Varthakavi P, Vasanthi T, Edvardsson S, Hattersley AT, Ellard S.  Biallelic PDX1 (insulin promoter factor 1) mutations causing neonatal diabetes without exocrine pancreatic insufficiency. Diabet Med. 2013 May;30(5): e197-200

 

Edghill EL, Stals K, Oram RA, Shepherd MH, Hattersley AT, Ellard S. HNF1B deletions in patients with young-onset diabetes but no known renal disease. Diabet Med. 2013 Jan;30(1):114-7

 

Shankar RK, Ellard S, Standiford D, Pihoker C, Gilliam LK, Hattersley A, Dolan LM.  Digenic heterozygous HNF1A and HNF4A mutations in two siblings with childhood-onset diabetes.  Pediatr Diabetes. 2013 Mar 31.[Epub ahead of print]

 

Shaw-Smith C, Flanagan SE, Patch AM, Grulich-Henn J, Habeb AM, Hussain K, Pomahacova R, Matyka K, Abdullah M, Hattersley AT, Ellard S.  Recessive SLC19A2 mutations are a cause of neonatal diabetes mellitus in thiamine-responsive megaloblastic anaemia. Pediatr Diabetes. 2012 Jun;13(4):307-14

 

Flanagan S, Damhuis A, Banerjee I, Rokicki D, Jefferies C, Kapoor R, Hussain K, Ellard S.  Partial ABCC8 gene deletion mutations causing diazoxide-unresponsive hyperinsulinaemic hypoglycaemia.  Pediatr Diabetes. 2012 May;13(3):285-289

 

Rubio-Cabezas O, Flanagan SE, Damhuis A, Hattersley AT, Ellard S. K(ATP) channel mutations in infants with permanent diabetes diagnosed after 6 months of life. Pediatr Diabetes. 2012 Jun 13 (4):322-5

 

 

Habeb AM, Flanagan SE, Deeb A, Al-Alwan I, Alawneh H, Balafrej AA, Mutair A, Hattersley AT, Hussain K, Ellard S. Permanent neonatal diabetes: different aetiology in Arabs compared to Europeans.  Arch Dis Child. 2012 Aug;97(8):721-3

 

Shankar RK, Pihoker C, Dolan LM, Standiford D, Badaru A, Dabelea D, Rodriguez B, Black MH, Imperatore G, Hattersley A, Ellard S, Gilliam LK. Permanent neonatal diabetes mellitus: prevalence and genetic diagnosis in the SEARCH for Diabetes in Youth Study.  Pediatr Diabetes. 2012 Oct 10. Epub ahead of print

 

Habeb AM, Al-Magamsi MS, Eid IM, Ali MI, Hattersley AT, Hussain K, Ellard S.  Incidence, genetics, and clinical phenotype of permanent neonatal diabetes mellitus in northwest Saudi Arabia.  Pediatr Diabetes. 2012 Sep;13(6):499-505

 

Flanagan SE, Mackay DJ, Greeley SA, McDonald TJ, Mericq V, Hassing J, Richmond EJ, Martin WR, Acerini C, Kaulfers AM, Flynn DP, Popovic J, Sperling MA, Hussain K, Ellard S, Hattersely AT.  Hypoglycaemia following diabetes remission in patients with 6q24 methylation defects: expanding the clinical phenotype.  Diabetologia. 2013 Jan;56(1):218

 

McDonald TJ, McEneny J, Pearson ER, Thanabalasingham G, Szopa M, Shields BM, Ellard S, Owen KR, Malecki MT, Hattersley AT, Young IS. Lipoprotein composition in HNF1A-MODY: differentiating between HNF1A-MODY and type 2 diabetes. Clin Chim Acta. 2012 May 18;413(9-10):927-32. doi: 10.1016/j.cca.2012.02.005. Epub 2012 Feb 14

 

Besser RE, Shields BM, Casas R, Hattersley AT, Ludvigsson J.  Lessons from the mixed-meal tolerance test: use of 90-minute and fasting C-peptide in pediatric diabetes. Diabetes Care. 2013 Feb;36(2):195-201. doi: 10.2337/dc12-0836

 

Jones AG, Besser RE, Shields BM, McDonald TJ, Hope SV, Knight BA, Hattersley AT.  Assessment of endogenous insulin secretion in insulin treated diabetes predicts postprandial glucose and treatment response to prandial insulin.  BMC Endocr Disord. 2012 Jun 8;12(1):6. doi: 10.1186/1472-6823-12-6

 

 

Besser RE, Jones AG, McDonald TJ, Shields BM, Knight BA, Hattersley AT. The impact of insulin administration during the mixed meal tolerance test.  Diabet Med. 2012 Oct;29(10):1279-84. doi: 10.1111/j.1464-5491.2012.03649.x

 

Gilchrist M, Winyard PG, Aizawa K, Anning C, Shore A, Benjamin N. Effect of dietary nitrate on blood pressure, endothelial function, and insulin sensitivity in type 2 diabetes. Free Radic. Biol. Med. 2013 Jul;60:89-97. doi: 10.1016/j.freeradbiomed.2013.01.024. Epub 2013 Feb 8

 

Clark CE, Taylor RS, Shore AC, Ukoumunne OC, Campbell JL.  Association of a difference in systolic blood pressure between arms with vascular disease and mortality: a systematic review and meta-analysis.  Lancet. 2012 Mar 10;379(9819):905-14. doi: 10.1016/S0140-6736(11)61710-8. Epub 2012 Jan 30

 

Clark CE, Taylor RS, Shore AC, Campbell JL. The difference in blood pressure readings between arms and survival: primary care cohort study. BMJ. 2012 Mar 20;344:e1327. doi: 10.1136/bmj.e1327

 

Thomas NJ, Shields BM, Besser RE, Jones AG, Rawlingson A, Goodchild E, Leighton C, Bowman P, Shepherd M, Knight BA, McDonald TJ, Hattersley AT. The impact of gender on urine C-peptide creatinine ratio interpretation. Ann Clin Biochem. 2012 Jul;49(Pt 4):363-8. doi: 10.1258/acb.2011.011164. Epub 2012 May 8

 

Strain WD, Adingupu DD, Shore AC. Microcirculation on a large scale: techniques, tactics and relevance of studying the microcirculation in larger population samples. Microcirculation. 2012 Jan;19(1):37-46. doi: 10.1111/j.1549-8719.2011.00140.x

 

Besser RE, Shields BM, Hammersley SE, Colclough K, McDonald TJ, Gray Z, Heywood JJ, Barrett TG, Hattersley AT.  Home urine C-peptide creatinine ratio testing   can identify type 2 and MODY in pediatric diabetes. Pediatr Diabetes. 2013 Jan 4. doi: 10.1111/pedi.12008. [Epub ahead of print]

 

Gosling O, Morgan-Hughes G, Iyengar S, Strain W, Loader R, Shore A, Roobottom C. Computed tomography to diagnose coronary artery disease: A reduction in radiation dose increases applicability. Clin. Radiol. 2103 68 (4) 340-5

 

Chidnok W, Fulford J, Bailey SJ, DiMenna FJ, Skiba P Vanhatalo A, Jones AM (2013) Muscle metabolic determinants of exercise tolerance following exhaustion: relationship to the ‘critical power’. J Appl Physiol. In Press

 

Meakin JR, Fulford J, Seymour R, Welsman JR, Karen M. Knapp KM (2013) The relationship between sagittal curvature and extensor muscle volume in the lumbar spine. Journal of Anatomy. In Press

 

Fulford J, Winyard PG, Vanhatalo A, Bailey SJ, Blackwell JR, Jones AM. (2013) Influence of dietary nitrate supplementation on human skeletal muscle metabolism and force production during maximum voluntary contractions. Pflugers Arch. 2013 Jan 26

 

Holliss BA, Fulford J, Vanhatalo A, Pedlar CR, Jones AM. (2013) Influence of intermittent hypoxic training on muscle energetics and exercise tolerance. J Appl Physiol. 2013 Jan 10

 

Kelly J, Fulford J, Vanhatalo A, Blackwell JR, French O, Bailey SJ, Gilchrist M, Winyard PG, Jones AM. (2013) Effects of short-term dietary nitrate supplementation on blood pressure, O2 uptake kinetics, and muscle and cognitive function in older adults. Am J Physiol Regul Integr Comp Physiol.304: 73-83

 

Flanagan DE, Fulford J, Krishnan B, Benattayallah A, Watt A, Summers IR. (2012) Functional MRI of the hypothalamic response to an oral glucose load. Diabetologia.  55: 2080-2082

 

Roser M.E, Corballis M.C, Jansari A, Fulford J, Benattayallah A, Adams W.M.  (2012). Bilateral redundancy gain and callosal integrity in a man with callosal lipoma: a diffusion-tensor imaging study. Neurocase, 18: 185-98

 

 

Hamilton A.J, Lyons C.B.A, Goodship T.H.J, Bingham C. Prevalence in the General Population of a CFH Sequence Variant Associated with Atypical Haemolytic Uraemic Syndrome in an Extensive Family from Southwest England. Nephron Extra 2013;3:86-90. (DOI:10.1159/000354667)