Now showing items 66-85 of 628

    • A CACNA1D mutation in a patient with persistent hyperinsulinaemic hypoglycaemia, heart defects, and severe hypotonia. 

      Flanagan, S E; Vairo, F; Johnson, M B; Caswell, R; Laver, T W; Lango Allen, H; Hussain, K; Ellard, Sian (Wiley, 2017-03-20)
      Congenital hyperinsulinaemic hypoglycaemia (HH) can occur in isolation or it may present as part of a wider syndrome. For approximately 40%-50% of individuals with this condition, sequence analysis of the known HH genes ...
    • Can agent-based simulation be used as a tool to support polypharmacy prescribing practice? 

      Chalk, D.; Manzi, S.; Britten, N.; Kluettgens, B.; Magura, Ratidzai; Valderas, J. (BMJ, 2017-07)
      We sought to develop a simulation modelling method to help better understand the complex interplay of factors that lead to people with type 2 diabetes and asthma not taking all of their medication as prescribed when faced ...
    • The cancer-associated cell migration protein TSPAN1 is under control of androgens and its upregulation increases prostate cancer cell migration. 

      Munkley, J.; McClurg, U. L.; Livermore, K. E.; Ehrmann, I.; Knight, Bridget; Mccullagh, Paul; McGrath, John S; Crundwell, Malcolm; Harries, L. W.; Leung, H Y; Mills, I. G.; Robson, C. N.; Rajan, P.; Elliott, D. J. (Nature, 2017-07-12)
      Cell migration drives cell invasion and metastatic progression in prostate cancer and is a major cause of mortality and morbidity. However the mechanisms driving cell migration in prostate cancer patients are not fully ...
    • Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers 

      Peterlongo, P.; Chang-Claude, J.; Moysich, K. B.; Rudolph, A.; Schmutzler, R. K.; Simard, J.; Soucy, P.; Eeles, R. A.; Easton, D. F.; Hamann, U.; Wilkening, S.; Chen, B.; Rookus, M. A.; Schmidt, M. K.; van der Baan, F. H.; Spurdle, A. B.; Walker, L. C.; Lose, F.; Maia, A. T.; Montagna, M.; Matricardi, L.; Lubinski, J.; Jakubowska, A.; Gomez Garcia, E. B.; Olopade, O. I.; Nussbaum, R. L.; Nathanson, K. L.; Domchek, S. M.; Rebbeck, T. R.; Arun, B. K.; Karlan, B. Y.; Orsulic, S.; Lester, J.; Chung, W. K.; Miron, A.; Southey, M. C.; Goldgar, D. E.; Buys, S. S.; Janavicius, R.; Dorfling, C. M.; van Rensburg, E. J.; Ding, Y. C.; Neuhausen, S. L.; Hansen, T. V.; Gerdes, A. M.; Ejlertsen, B.; Jonson, L.; Osorio, A.; Martinez-Bouzas, C.; Benitez, J.; Conway, E. E.; Blazer, K. R.; Weitzel, J. N.; Manoukian, S.; Peissel, B.; Zaffaroni, D.; Scuvera, G.; Barile, M.; Ficarazzi, F.; Mariette, F.; Fortuzzi, S.; Viel, A.; Giannini, G.; Papi, L.; Martayan, A.; Tibiletti, M. G.; Radice, P.; Vratimos, A.; Fostira, F.; Garber, J. E.; Donaldson, A.; Brewer, Carole; Foo, C.; Evans, D. G.; Frost, D.; Eccles, D.; Brady, A.; Cook, J.; Tischkowitz, M.; Adlard, J.; Barwell, J.; Walker, L.; Izatt, L.; Side, L. E.; Kennedy, M. J.; Rogers, M. T.; Porteous, M. E.; Morrison, P. J.; Platte, R.; Davidson, R.; Hodgson, S. V.; Ellis, S.; Cole, T.; Embrace,; Godwin, A. K.; Claes, K.; Van Maerken, T.; Meindl, A.; Gehrig, A.; Sutter, C.; Engel, C.; Niederacher, D.; Steinemann, D.; Plendl, H.; Kast, K.; Rhiem, K.; Ditsch, N.; Arnold, N.; Varon-Mateeva, R.; Wappenschmidt, B.; Wang-Gohrke, S.; Bressac-de Paillerets, B.; Buecher, B.; Delnatte, C.; Houdayer, C.; Stoppa-Lyonnet, D.; Damiola, F.; Coupier, I.; Barjhoux, L.; Venat-Bouvet, L.; Golmard, L.; Boutry-Kryza, N.; Sinilnikova, O. M.; Caron, O.; Pujol, P.; Mazoyer, S.; Belotti, M.; Gemo Study Collaborators; Piedmonte, M.; Friedlander, M. L.; Rodriguez, G. C.; Copeland, L. J.; de la Hoya, M.; Segura, P. P.; Nevanlinna, H.; Aittomaki, K.; van Os, T. A.; Meijers-Heijboer, H. E.; van der Hout, A. H.; Vreeswijk, M. P.; Hoogerbrugge, N.; Ausems, M. G.; van Doorn, H. C.; Collee, J. M.; Hebon,; Olah, E.; Diez, O.; Blanco, I.; Lazaro, C.; Brunet, J.; Feliubadalo, L.; Cybulski, C.; Gronwald, J.; Durda, K.; Jaworska-Bieniek, K.; Sukiennicki, G.; Arason, A.; Chiquette, J.; Teixeira, M. R.; Olswold, C.; Couch, F. J.; Lindor, N. M.; Wang, X.; Szabo, C. I.; Offit, K.; Corines, M.; Jacobs, L.; Robson, M. E.; Zhang, L.; Joseph, V.; Berger, A.; Singer, C. F.; Rappaport, C.; Kaulich, D. G.; Pfeiler, G.; Tea, M. K.; Phelan, C. M.; Greene, M. H.; Mai, P. L.; Rennert, G.; Mulligan, A. M.; Glendon, G.; Tchatchou, S.; Andrulis, I. L.; Toland, A. E.; Bojesen, A.; Pedersen, I. S.; Thomassen, M.; Jensen, U. B.; Laitman, Y.; Rantala, J.; von Wachenfeldt, A.; Ehrencrona, H.; Askmalm, M. S.; Borg, A.; Kuchenbaecker, K. B.; McGuffog, L.; Barrowdale, D.; Healey, S.; Lee, A.; Pharoah, P. D.; Chenevix-Trench, G.; K. ConFab Investigators; Antoniou, A. C.; Friedman, E. (Cancer Epidemiol Biomarkers Prev, 2015-01-01)
      BACKGROUND: BRCA1 and BRCA2 mutation carriers are at substantially increased risk for developing breast and ovarian cancer. The incomplete penetrance coupled with the variable age at diagnosis in carriers of the same ...
    • Care pathway: the role of the health care professional in the management of spasticity 

      Keenan, L.; Stevenson, V.; Jarrett, Louise (Multiple Sclerosis Trust, 2010)
    • A case of massive haemoptysis. 

      Diggins, Benjamin; Rider, Katherine; Sheldon, Christopher David; Watkinson, Anthony (BMJ, 2018-06-29)
    • A case report of squamous cell carcinoma in a suprapubic urinary catheter tract: surgical excision and simultaneous colostomy formation. 

      Khadhouri, Sinan; Rye, D. S.; Powari, Manish; Daniels, Ian R.; McGrath, John S (Oxford Academic, 2018-02)
      Squamous cell carcinoma (SCC) arising from a suprapubic cystostomy tract is a rare complication of long-term suprapubic catheterization (SPC). A 53-year-old man with paraplegia secondary to spina bifida presented with a ...
    • Case report: maternal mosaicism resulting in inheritance of a novel GATA6 mutation causing pancreatic agenesis and neonatal diabetes mellitus. 

      Yau, D.; De Franco, E.; Flanagan, S. E.; Ellard, Sian; Blumenkrantz, M.; Mitchell, J. J. (BioMed Central, 2017-01-03)
      Haploinsufficiency of the GATA6 transcription factor gene was recently found to be the most common cause of pancreatic agenesis, a rare cause of neonatal diabetes mellitus. Although most cases are de novo, we describe three ...
    • Case-based discussion from the Royal Devon and Exeter NHS Foundation Trust: a painful paradox 

      Sharp, Charles; Powari, Manish; Mascarenhas, Ravik; Spiers, Alexander; Froeschle, Peter O.; Patel, Bipen D.; Silver, David A.; Maher, T. M.; Gibbons, Michael A. (BMJ, 2014-08-01)
    • Cathepsin D non-proteolytically induces proliferation and migration in human omental microvascular endothelial cells via activation of the ERK1/2 and PI3K/AKT pathways. 

      Pranjol, M. Z. I.; Gutowski, Nicholas J.; Hannemann, Michael; Whatmore, J. L. (Elsevier, 2017-10-10)
      Epithelial ovarian cancer (EOC) frequently metastasises to the omentum, a process that requires pro-angiogenic activation of human omental microvascular endothelial cells (HOMECs) by tumour-secreted factors. We have ...
    • Cathepsin L induces proangiogenic changes in human omental microvascular endothelial cells via activation of the ERK1/2 pathway. 

      Pranjol, M. Z. I.; Gutowski, Nicholas J.; Hannemann, Michael; Whatmore, J. L. (Bentham Science, 2018-08-31)
      Metastasis still remains the major cause of therapeutic failure, poor prognosis and high mortality in epithelial ovarian cancer (EOC) patients. Previously, we showed that EOC cells secrete a range of factors with potential ...
    • Catheter-based renal denervation in patients with uncontrolled hypertension in the absence of antihypertensive medications (SPYRAL HTN-OFF MED): a randomised, sham-controlled, proof-of-concept trial. 

      Townsend, R. R.; Mahfoud, F.; Kandzari, D. E.; Kario, K.; Pocock, S.; Weber, M. A.; Ewen, S.; Tsioufis, K.; Tousoulis, D.; Sharp, Andrew; Watkinson, Anthony; Schmieder, R.E.; Schmid, A.; Choi, J. W.; East, C.; Walton, A.; Hopper, I.; Cohen, D. L.; Wilensky, R.; Lee, D. P.; Ma, A.; Devireddy, C. M.; Lea, J. P.; Lurz, P. C.; Fengler, K.; Davies, J.; Chapman, N.; Cohen, S. A.; DeBruin, V.; Fahy, M.; Jones, D. E.; Rothman, M.; Böhm, M. (Elsevier, 2017-08-25)
      Previous randomised renal denervation studies did not show consistent efficacy in reducing blood pressure. The objective of our study was to evaluate the effect of renal denervation on blood pressure in the absence of ...
    • A cautionary tale: Unforeseen consequences of lean processing in a blood sciences laboratory. 

      Perry, Mandy; O'Connor, John; James, Alan J.; Cudmore, Adrian; Lewis, Aled V.; Salzmann, Maurice B.; McDonald, Timothy J. (Elsevier, 2016-08-18)
    • Ceftolozane-tazobactam resistance induced in vivo during the treatment of MDR Pseudomonas aeruginosa pneumonia. 

      Plant, Aiden J.; Dunn, Alexander; Porter, Robert J. (Taylor & Francis, 2018-05)
    • Challenging infections in pregnancy: a multiparametric approach 

      Morgan, Marina (Elsevier, 2017-09)
      Despite advances in medical knowledge, infection still kills pregnant women. Early signs of sepsis may be missed or overlooked by busy healthcare workers, some with little experience of infections, and it can be difficult ...
    • Characteristics of maturity onset diabetes of the young in a large diabetes center. 

      Chambers, C.; Fouts, A.; Dong, F.; Colclough, Kevin; Wang, Z.; Batish, S. D.; Jaremko, M.; Ellard, Sian; Hattersley, Andrew T.; Klingensmith, G.; Steck, A. K. (Wiley, 2016-08)
      Maturity onset diabetes of the young (MODY) is a monogenic form of diabetes caused by a mutation in a single gene, often not requiring insulin. The aim of this study was to estimate the frequency and clinical characteristics ...
    • Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1. 

      Crow, Y. J.; Chase, D. S.; Lowenstein Schmidt, J.; Szynkiewicz, M.; Forte, G. M. A.; Gornall, H. L.; Oojageer, A.; Anderson, B.; Pizzino, A.; Helman, G.; Abdel-Hamid, M. S.; Devriendt, K.; Di Rocco, M.; Fahey, M. C.; Fazzi, E.; Lim, M. J.; Ferrie, C. D.; Khan, N.; Gowrinathan, N. R.; McKee, S. A.; Gowrishankar, K.; Oades, Patrick; Hanrahan, D.; King, M. D.; Kirk, E. P.; Kumar, R.; Ramesh, V.; Lin, J.-P. S-M; Lagae, L.; Landrieu, P.; Lauffer, H.; Laugel, V.; Olivieri, I.; Roubertie, A.; Moroni, I.; Linnankivi, T.; Rasmussen, M.; Mackay, M. T.; Marom, D. R.; Morton, J. E. V.; Salvatici, E.; Moutard, M.-L.; Tacke, U.; Ostergaard, J. R.; Murray, K.; Nabbout, R.; Nampoothiri, S.; Nunez-Enamorado, N.; Tonduti, D.; Régal, L.; Pérez-Dueñas, B.; Tan, T. Y.; Prendiville, J. S.; Segers, K. A.; Ricci, F.; Valente, E. M.; Rio, M.; Webb, H. J.; Rodriguez, D.; Sinha, G. P.; Soler, D.; Spiegel, R.; Livingston, J. H.; te Water Naude, J.; Stödberg, T. I.; Straussberg, R.; Swoboda, K. J.; Suri, M.; Whitehouse, W. P.; Abdel-Salam, G. M.; Van Coster, R. N.; Wee Teik, K.; Rozenberg, F.; Thomas, M. M.; Till, M.; van der Knaap, M. S.; Ackroyd, S.; Vassallo, G.; Bahi-Buisson, N.; Whitney, R. N.; Vijzelaar, R.; Vogt, J.; Wallace, G. B.; Wassmer, E.; Bernard, G.; Lebon, P.; Zaki, M. S.; Bailey, K. M.; Zuberi, S. M.; Aeby, A.; Vanderver, A.; Bianchi, M.; Orcesi, S.; Cereda, C.; Rice, G. I.; Agosta, G.; Albin, C.; Allon-Shalev, S.; Crichiutti, G.; Barnerias, C.; Arellano, M.; Ariaudo, G.; Aswani, V.; Babul-Hirji, R.; Chandler, K. E.; Baildam, E. M.; Billette de Villemeur, T.; Barth, M.; Dabydeen, L.; Battini, R.; Beresford, M. W.; Blair, E. M.; Bloom, M.; Burlina, A. B.; Figueiredo, A.; Chitayat, D. A.; Carpanelli, M. L.; Carvalho, D. R.; Castro-Gago, M.; Cavallini, A.; Isidor, B.; Dale, R. C.; Collins, A. E.; Gener, B.; Sierra Corcoles, C.; Cordeiro, N.J. V.; D'Arrigo, S.; Kara, B.; De Goede, C. G E L; La Piana, R.; De Laet, C.; De Waele, L.M. H.; Denzler, I.; Desguerre, I.; Marques Lourenço, C.; Goizet, C. (Wiley, 2015-02)
      Aicardi-Goutières syndrome is an inflammatory disease occurring due to mutations in any of TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR or IFIH1. We report on 374 patients from 299 families with mutations in these ...
    • Characterization of nanoDot optically stimulated luminescence detectors and high-sensitivity MCP-N thermoluminescent detectors in the 40-300 kVp energy range. 

      Poirier, Y.; Kuznetsova, S.; Villarreal-Barajas, Jose Eduardo (Wiley, 2017-11-22)
      To investigate empirically the energy dependence of the detector response of two in-vivo luminescence detectors, LiF:Mg,Cu,P (MCP-N) high-sensitivity TLDs and Al2 O3 :C OSLDs, in the 40-300-kVp energy range in the context ...
    • CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language 

      Snidjers Blok, L [et al]; Rankin, Julia (Nature, 2018-11)
      Chromatin remodeling is of crucial importance during brain development. Pathogenic alterations of several chromatin remodeling ATPases have been implicated in neurodevelopmental disorders. We describe an index case with a ...
    • The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis 

      Turnpenny, Peter (Nature, 2019-08-07)
      Sifrim-Hitz-Weiss syndrome (SIHIWES) is a recently described multisystemic neurodevelopmental disorder caused by de novo variants in CHD4. In this study, we investigated the clinical spectrum of the disorder, genotype-phenotype ...