Now showing items 61-80 of 597

    • A human mitochondrial poly(A) polymerase mutation reveals the complexities of post-transcriptional mitochondrial gene expression 

      Wilson, W. C.; Hornig-Do, H. T.; Bruni, F.; Chang, J. H.; Jourdain, A. A.; Martinou, J. C.; Falkenberg, M.; Spahr, H.; Larsson, N. G.; Lewis, R. J.; Hewitt, L.; Basle, A.; Cross, H. E.; Tong, L.; Lebel, R. R.; Crosby, Andrew H.; Chrzanowska-Lightowlers, Z. M.; Lightowlers, R. N. (Oxford Journals, 2014-12-01)
      The p.N478D missense mutation in human mitochondrial poly(A) polymerase (mtPAP) has previously been implicated in a form of spastic ataxia with optic atrophy. In this study, we have investigated fibroblast cell lines ...
    • Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability 

      Raimondo, A.; Chakera, Ali J.; Thomsen, S. K.; Colclough, Kevin; Barrett, A.; De Franco, E.; Chatelas, A.; Demirbilek, H.; Akcay, T.; Alawneh, H.; International, N. D. M. Consortium; Flanagan, S. E.; Van De Bunt, M.; Hattersley, Andrew T.; Gloyn, A. L.; Ellard, Sian; International, N. D. M. Consortium (Oxford Journals, 2014-12-15)
      Mutations in glucokinase (GCK) cause a spectrum of glycemic disorders. Heterozygous loss-of-function mutations cause mild fasting hyperglycemia irrespective of mutation severity due to compensation from the unaffected ...
    • The relationship between the contralateral collateral supply and myocardial viability on cardiovascular magnetic resonance: can the angiogram predict functional recovery? 

      Ripley, David P.; Gosling, Oliver E.; Bhatia, L.; Peebles, C. R.; Shore, Angela; Curzen, N.; Bellenger, Nick G. (Elsevier, 2014-12-15)
      BACKGROUND: A collateral circulation which supplies a myocardial territory, subtended by a chronic total occlusion (CTO), may be observed at invasive coronary angiography. The prognostic and protective role of such ...
    • Optimisation of an Advanced Oxidation Protein Products Assay: Its Application to Studies of Oxidative Stress in Diabetes Mellitus. 

      Taylor, E. L.; Armstrong, K. R.; Perrett, D.; Hattersley, Andrew T.; Winyard, Paul G. (Hindawi, 2015)
      Advanced oxidation protein products (AOPP) are reportedly elevated in the plasma of patients with a number of diseases, including diabetes mellitus, that involve oxidative stress. However, the accurate measurement of AOPP ...
    • Genotype and phenotype correlations in Iranian patients with hyperinsulinaemic hypoglycaemia. 

      Senniappan, S.; Sadeghizadeh, A.; Flanagan, Sarah; Ellard, Sian; Hashemipour, M.; Hosseinzadeh, M.; Salehi, M.; Hussain, K. (BioMed Central, 2015)
      Hyperinsulinaemic hypoglycaemia (HH) is a group of clinically and genetically heterogeneous disorders characterized by unregulated insulin secretion. Abnormalities in nine different genes (ABCC8, KCNJ11, GLUD1, GCK, HADH, ...
    • Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility. 

      Wessel, J. [et al]; Hattersley, Andrew T.; Frayling, Timothy M.; Yaghootkar, Hanieh (Nature, 2015-01)
      Fasting glucose and insulin are intermediate traits for type 2 diabetes. Here we explore the role of coding variation on these traits by analysis of variants on the HumanExome BeadChip in 60,564 non-diabetic individuals ...
    • Increased plasma incretin concentrations identifies a subset of patients with persistent congenital hyperinsulinism without KATP channel gene defects. 

      Shi, Y.; Avatapalle, H. B.; Skae, M. S.; Padidela, R.; Newbould, M.; Rigby, L.; Flanagan, Sarah; Ellard, Sian; Rahier, J.; Clayton, P. E.; Dunne, M. J.; Banerjee, I.; Cosgrove, K. E. (Elsevier, 2015-01)
      Congenital hyperinsulinism causes profound hypoglycemia, which may persist or resolve spontaneously. Among 13 children with congenital hyperinsulinism, elevated incretin hormone concentrations were detected in 2 with ...
    • Biological interpretation of genome-wide association studies using predicted gene functions. 

      Pers, T. H.; Karjalainen, J.M.; Chan, Y.; Westra, H-J; Wood, A. R.; Yang, J; Lui, J. C.; Vedantam, S.; Gustafsson, S.; Esko, T.; Frayling, Timothy M.; Speliotes, E. K.; Boehnke, M.; Raychaudhuri, S.; Fehrmann, R. S. N.; Hirschhorn, J. N.; Franke, L.; Hattersley, Andrew T. (Nature, 2015-01)
      The main challenge for gaining biological insights from genetic associations is identifying which genes and pathways explain the associations. Here we present DEPICT, an integrative tool that employs predicted gene functions ...
    • COL6A3 is regulated by leptin in human adipose tissue and reduced in obesity 

      McCulloch, Laura J.; Rawling, T. J.; Sjoholm, K.; Franck, N.; Dankel, S. N.; Price, E. J.; Knight, Bridget; Liversedge, Neil H.; Mellgren, G.; Nystrom, F.; Carlsson, L. M.; Kos, K. (Endocrine Society, 2015-01-01)
      Fibrosis of adipose tissue (AT) increases AT rigidity, reduces its expandability, and contributes to metabolic dysfunction. Collagen type VI, alpha3 (COL6A3) encodes 1 subunit of a fibrotic extracellular matrix protein ...
    • Statins and type 2 diabetes: genetic studies on target 

      Frayling, Timothy M. (Elsevier, 2015-01-24)
    • Airflow limitation following cardiopulmonary exercise testing and heavy-intensity intermittent exercise in children with cystic fibrosis. 

      Stevens, D.; Oades, Patrick; Williams, Craig A. (Springer, 2015-02)
      The clinical importance of exercise testing and training in the healthcare management of young patients with cystic fibrosis (CF) is growing. The aim of the present study was to determine the incidence of airflow limitation ...
    • Genetic studies of body mass index yield new insights for obesity biology 

      Locke, A. E. [et al]; Frayling, Timothy M.; Hattersley, Andrew T. (Nature, 2015-02)
      Obesity is heritable and predisposes to many diseases. To understand the genetic basis of obesity better, here we conduct a genome-wide association study and Metabochip meta-analysis of body mass index (BMI), a measure ...
    • Most people with long-duration type 1 diabetes in a large population-based study are insulin microsecretors 

      Oram, Richard A.; McDonald, Timothy J.; Shields, Beverley M; Hudson, M. M.; Shepherd, Maggie; Hammersley, S.; Pearson, E. R.; Hattersley, Andrew T.; United Team (Diabetes Care, 2015-02-01)
      OBJECTIVE: Small studies using ultrasensitive C-peptide assays suggest endogenous insulin secretion is frequently detectable in patients with long-standing type 1 diabetes (T1D), but these studies do not use representative ...
    • HNF1B-associated renal and extra-renal disease-an expanding clinical spectrum 

      Clissold, Rhian L.; Hamilton, Alexander J.; Hattersley, Andrew T.; Ellard, Sian; Bingham, Coralie (Nature, 2015-02-01)
      Heterozygous mutations in the gene that encodes the transcription factor hepatocyte nuclear factor 1beta (HNF1B) represent the most common known monogenic cause of developmental kidney disease. Renal cysts are the most ...
    • New genetic loci link adipose and insulin biology to body fat distribution 

      Shungin, D. [et al]; Hattersley, Andrew T.; Frayling, Timothy M. (Nature, 2015-02-12)
      Body fat distribution is a heritable trait and a well-established predictor of adverse metabolic outcomes, independent of overall adiposity. To increase our understanding of the genetic basis of body fat distribution and ...
    • A novel common variant in DCST2 is associated with length in early life and height in adulthood 

      van der Valk, R. J.; Kreiner-Moller, E.; Kooijman, M. N.; Guxens, M.; Stergiakouli, E.; Saaf, A.; Bradfield, J. P.; Geller, F.; Hayes, M. G.; Cousminer, D. L.; Korner, A.; Thiering, E.; Curtin, J. A.; Myhre, R.; Huikari, V.; Joro, R.; Kerkhof, M.; Warrington, N. M.; Pitkanen, N.; Ntalla, I.; Horikoshi, M.; Veijola, R.; Freathy, Rachel M.; Teo, Y. Y.; Barton, S. J.; Evans, D. M.; Kemp, J. P.; St Pourcain, B.; Ring, S. M.; Davey Smith, G.; Bergstrom, A.; Kull, I.; Hakonarson, H.; Mentch, F. D.; Bisgaard, H.; Chawes, B.; Stokholm, J.; Waage, J.; Eriksen, P.; Sevelsted, A.; Melbye, M.; Early, Genetics; Lifecourse Epidemiology, Consortium; van Duijn, C. M.; Medina-Gomez, C.; Hofman, A.; de Jongste, J. C.; Taal, H. R.; Uitterlinden, A. G.; Genetic Investigation of, ANthropometric Traits Consortium; Armstrong, L. L.; Eriksson, J.; Palotie, A.; Bustamante, M.; Estivill, X.; Gonzalez, J. R.; Llop, S.; Kiess, W.; Mahajan, A.; Flexeder, C.; Tiesler, C. M.; Murray, C. S.; Simpson, A.; Magnus, P.; Sengpiel, V.; Hartikainen, A. L.; Keinanen-Kiukaanniemi, S.; Lewin, A.; Da Silva Couto Alves, A.; Blakemore, A. I.; Buxton, J. L.; Kaakinen, M.; Rodriguez, A.; Sebert, S.; Vaarasmaki, M.; Lakka, T.; Lindi, V.; Gehring, U.; Postma, D. S.; Ang, W.; Newnham, J. P.; Lyytikainen, L. P.; Pahkala, K.; Raitakari, O. T.; Panoutsopoulou, K.; Zeggini, E.; Boomsma, D. I.; Groen-Blokhuis, M.; Ilonen, J.; Franke, L.; Hirschhorn, J. N.; Pers, T. H.; Liang, L.; Huang, J.; Hocher, B.; Knip, M.; Saw, S. M.; Holloway, J. W.; Melen, E.; Grant, S. F.; Feenstra, B.; Lowe, W. L.; Widen, E.; Sergeyev, E.; Grallert, H.; Custovic, A.; Jacobsson, B.; Jarvelin, M. R.; Atalay, M.; Koppelman, G. H.; Pennell, C. E.; Niinikoski, H.; Dedoussis, G. V.; McCarthy, M. I.; Frayling, Timothy M.; Sunyer, J.; Timpson, N. J.; Rivadeneira, F.; Bonnelykke, K.; Jaddoe, V. W.; Early Growth Genetics, Consortium (Oxford Journals, 2015-02-15)
      Common genetic variants have been identified for adult height, but not much is known about the genetics of skeletal growth in early life. To identify common genetic variants that influence fetal skeletal growth, we ...
    • Alternating hypoglycemia and hyperglycemia in a toddler with a homozygous p.R1419H ABCC8 mutation: an unusual clinical picture. 

      Harel, S.; Cohen, A. S. A.; Hussain, K.; Flanagan, Sarah; Schlade-Bartusiak, K.; Patel, M.; Courtade, J.; Li, J. B. W.; Van Karnebeek, C.; Kurata, H.; Ellard, Sian; Chanoine, J-P; Gibson, W. T. (De Gruyter, 2015-03)
      Inheritance of two pathogenic ABCC8 alleles typically causes severe congenital hyperinsulinism. We describe a girl and her father, both homozygous for the same ABCC8 mutation, who presented with unusual phenotypes.
    • Three cases of Wolfram syndrome with different clinical aspects. 

      Çamtosun, E.; Şıklar, Z.; Kocaay, P.; Ceylaner, S.; Flanagan, Sarah; Ellard, Sian; Berberoğlu, M. (De Gruyter, 2015-03)
      Wolfram syndrome is an autosomal recessive disorder caused by mutations in the WFS1 gene. Clinical heterogeneity has been reported both within and between families with WFS1 mutations.
    • Elevated blood pressure in preterm-born offspring associates with a distinct antiangiogenic state and microvascular abnormalities in adult life. 

      Lewandowski, A. J.; Davis, E. F.; Yu, G.; Digby, J. E.; Boardman, H.; Whitworth, P.; Singhal, A.; Lucas, A.; McCormick, K.; Shore, Angela; Leeson, P. (American Heart Association, 2015-03)
      Preterm-born individuals have elevated blood pressure. We tested the hypothesis that this associates with an enhanced antiangiogenic circulating profile and that this association is mediated by variations in capillary ...
    • Informing patients about the uncertainties and risks of new surgical procedures 

      Latif, A.; Western, Catherine; Travers, Hannah; Thomas, V.; Patrick, H.; Campbell, Bruce (Royal College of Surgeons, 2015-03-03)
      Informing patients thoroughly is vital in obtaining proper consent. It is particularly important for procedures with limited evidence of efficacy or with well-recognised concerns about safety. National Institute of Health ...