• 1000 Genomes-based metaanalysis identifies 10 novel loci for kidney function 

      Gorski, Mathias; Van Der Most, Peter J.; Teumer, Alexander; Chu, Audrey Y.; Li, Man; Mijatovic, Vladan; Nolte, Ilja M.; Cocca, Massimiliano; Taliun, Daniel; Gomez, Felicia; Li, Yong; Tayo, Bamidele; Tin, Adrienne; Feitosa, Mary F.; Aspelund, Thor; Attia, John; Biffar, Reiner; Bochud, Murielle; Boerwinkle, Eric; Borecki, Ingrid; Bottinger, Erwin P.; Chen, Ming-Huei; Chouraki, Vincent; Ciullo, Marina; Coresh, Josef; Cornelis, Marilyn C.; Curhan, Gary C.; d’Adamo, Adamo Pio; Dehghan, Abbas; Dengler, Laura; Ding, Jingzhong; Eiriksdottir, Gudny; Endlich, Karlhans; Enroth, Stefan; Esko, Tonu; Franco, Oscar H.; Gasparini, Paolo; Gieger, Christian; Girotto, Giorgia; Gottesman, Omri; Gudnason, Vilmundur; Gyllensten, Ulf; Hancock, Stephen J.; Harris, Tamara B.; Helmer, Catherine; Hollerer, Simon; Hofer, Edith; Hofman, Albert; Holliday, Elizabeth G.; Homuth, Georg; Hu, Frank B.; Huth, Cornelia; Hutri-Kahonen, Nina; Hwang, Shih-Jen; Imboden, Medea; Johansson, Asa; Kahonen, Mika; Konig, Wolfgang; Kramer, Holly; Kramer, Bernhard K.; Kumar, Ashish; Kutalik, Zoltan; Lambert, Jean-Charles; Launer, Lenore J.; Lehtimaki, Terho; De Borst, Martin H.; Navis, Gerjan; Swertz, Morris; Liu, Yongmei; Lohman, Kurt; Loos, Ruth J. F.; Lu, Yingchang; Lyytikainen, Leo-Pekka; McEvoy, Mark A.; Meisinger, Christa; Meitinger, Thomas; Metspalu, Andres; Metzger, Marie; Mihailov, Evelin; Mitchell, Paul; Nauck, Matthias; Oldehinkel, Albertine J.; Olden, Matthias; Penninx, Brenda W. J. H.; Pistis, Giorgio; Pramstaller, Peter P.; Probst-Hensch, Nicole; Raitakari, Olli T.; Rettig, Rainer; Ridker, Paul M.; Rivadeneira, Fernando; Robino, Antonietta; Rosas, Sylvia E.; Ruderfer, Douglas; Ruggiero, Daniela; Saba, Yasaman; Sala, Cinzia; Schmidt, Helena; Schmidt, Reinhold; Scott, Rodney J.; Sedaghat, Sanaz; Smith, Albert V.; Sorice, Rossella; Stengel, Benedicte; Stracke, Sylvia; Strauch, Konstantin; Toniolo, Daniela; Uitterlinden, Andre G.; Ulivi, Sheila; Viikari, Jorma S.; Volker, Uwe; Vollenweider, Peter; Volzke, Henry; Vuckovic, Dragana; Waldenberger, Melanie; Wang, Jie Jin; Yang, Qiong; Chasman, Daniel I.; Tromp, Gerard; Snieder, Harold; Heid, Iris M.; Fox, Caroline S.; Kottgen, Anna; Pattaro, Cristian; Boger, Carsten A.; Fuchsberger, Christian (Nature Research, 2017)
      HapMap imputed genome-wide association studies (GWAS) have revealed >50 loci at which common variants with minor allele frequency >5% are associated with kidney function. GWAS using more complete reference sets for imputation, ...
    • A 3-year cytogenetic survey of 9661 patients in South Africa 

      Bester, Rina; Benjamin, Mercy (Health and Medical Publishing Group (HMPG), 1983)
      During the period 1 January 1977 - 31 December 1979, 9661 patients underwent cytogenetic investigation at seven participating laboratories in South Africa. The chromosome data were coded using a standard protocol and the ...
    • Abnormalities of bone and mineral metabolism in patients with eating disorders 

      Conradie, Maria Martha (Stellenbosch : Stellenbosch University, 2001)
      ENGLISH ABSTRACT: Osteopenia is a well documented complication of anorexia nervosa (AN). The pathogenesis of this bone loss is presently poorly defined in the literature. Pathogenetic mechanisms that have been implicated ...
    • Accessory gene components for an HIV-1 subtype C vaccine : functional analysis of mutated Tat, Rev and Nef antigens 

      Scriba, Thomas Jens (Stellenbosch : Stellenbosch University, 2002-12)
      ENGLISH ABSTRACT: HIV has attained a global distribution and the number of infected people reached an estimated 28.1 million in sub-Saharan Africa at the end of 2001. HIV-1 subtype C is overwhelmingly prevalent in ...
    • Accurate estimation of large vessel length in growing children and adolescents for the purpose of pulse wave velocity calculation. 

      Witbooi, Lee-Roy Cecil (Stellenbosch : Stellenbosch University, 2018-12)
      Background Cardiovascular disease is a major cause of death in adults worldwide. Early detection allows for early intervention to prevent vascular events such as strokes, heart attacks, etc. Although these vascular ...
    • Acrosome size and kinematics of human spermatozoa 

      Murray, George M. (Stellenbosch : University of Stellenbosch, 2007-03)
      For spermatozoa to gain access to the oocyte for fertilization, lytic enzymes need to be released during the acrosome reaction. These enzymes, which are stored and transported within an organelle termed the acrosome, ...
    • The adrenal cortex in hypercholesterolaemic rabbits. Histochemical and electron microscopical changes 

      Rossouw, D. J.; Chase, C. C.; Engelbrecht, F. M. (Health & Medical Publishing Group, 1978-2)
      The adrenals of rabbits on a cholesterol-rich diet for 35 days showed histopathological changes, a marked increase in weight and a lowering in the ascorbate content. A focal increase in the neutral lipid and cholesterol ...
    • Alcohol, hospital discharge, and socioeconomic risk factors for default from multidrug resistant tuberculosis treatment in rural South Africa : a retrospective cohort study 

      Kendall, Emily A.; Theron, Danie; Franke, Molly F.; Van Helden, Paul; Victor, Thomas C.; Murray, Megan B.; Warren, Robin M.; Jacobson, Karen R. (PLoS, 2013-12-13)
      Background: Default from multidrug-resistant tuberculosis (MDR-TB) treatment remains a major barrier to cure and epidemic control. We sought to identify patient risk factors for default from MDR-TB treatment and high-risk ...
    • Altered mitochondrial respiration and other features of mitochondrial function in parkin-mutant fibroblasts from parkinson’s disease patients 

      Haylett, William; Swart, Chrisna; Van der Westhuizen, Francois; Van Dyk, Hayley; Van der Merwe, Lize; Van der Merwe, Celia; Loos, Ben; Carr, Jonathan; Kinnear, Craig; Bardien, Soraya (Hindawi Publishing Corporation, 2016)
      Mutations in the parkin gene are the most common cause of early-onset Parkinson’s disease (PD). Parkin, an E3 ubiquitin ligase, is involved in respiratory chain function, mitophagy, and mitochondrial dynamics. Human cellular ...
    • Alternative insulin mitogenic signaling pathways in immature osteoblast cell lines 

      Langeveldt, Carmen Ronel (Stellenbosch : Stellenbosch University, 2002-03)
      ENGLISH ABSTRACT: Insulin is a mitogen for many cells and commonly signals through the classical, mitogenic Raf- MEK-ERK or metabolic PB-kinase pathways. Insulin deficiency or type I diabetes causes severe osteopenia. ...
    • Ameliorative potentials of quercetin against cotinine-induced toxic effects on human spermatozoa 

      Goss, Dale; Oyeyipo, Ibukun P.; Skosana, Bongekile T.; Ayad, Bashir M.; Du Plessis, Stefan S. (Hainan Medical University Journal Publisher, 2016)
      Objectives: Cotinine, the principal metabolite of nicotine found in smokers' seminal plasma, has been shown to adversely affect sperm functionality while quercetin, a flavonoid with diverse properties is associated with ...
    • Aminoglycoside-induced hearing loss : South Africans at risk 

      Bardien, Soraya; De Jong, Greetje; Schaaf, H. Simon; Harris, Tashneem; Fagan, Johan; Petersen, Lucretia (Health and Medical Publishing Group (HMPG), 2009)
    • AMP kinase activation and glut4 translocation in isolated cardiomyocytes 

      Webste, Ingrid; Friedrich, Sven O.; Lochner, Amanda; Huisamen, Barbara (Clinics Cardive Publishing, 2010-04)
      Activation of AMP-activated protein kinase (AMPK) results in glucose transporter 4 (GLUT4) translocation from the cytosol to the cell membrane, and glucose uptake in the skeletal muscles. This increased activation of AMPK ...
    • AMP kinase activation and glut4 translocation in isolated cardiomyocytes 

      Webster, Ingrid; Huisamen, Barbara; Lochner, Amanda; Friedrich, Sven O (http://www.cvja.co.za/index.php, 2010-03)
    • Analysis and application of evolutionary markers in the epidemiology of Mycobacterium tuberculosis 

      Van der Spuy, Gian Dreyer (Stellenbosch : Stellenbosch University, 2008-12)
      This series of studies includes both methodological analyses, aimed at furthering our understanding of, and improving the tools used in molecular epidemiology, and investigative projects which have used these tools to add ...
    • Analysis of copy number variation and disease mechanisms underlying Parkinson’s disease 

      Van der Merwe, Celia (Stellenbosch : Stellenbosch University, 2016-03)
      ENGLISH ABSTRACT : Parkinson’s disease (PD) is a neurodegenerative movement disorder characterized by the loss of dopaminergic neurons in the substantia nigra of the midbrain. Although the aetiology of PD is still not fully ...
    • Analysis of host determining factors in susceptibility to tuberculosis in the South African coloured population 

      De Wit, Erika (Stellenbosch : University of Stellenbosch, 2009-12)
      ENGLISH ABSTRACT: The infectious disease tuberculosis (TB) still represents a global threat due to its devastating effect on health and the subsequent high mortality rate. Previous studies have indicated that host genetic ...
    • Analysis of host responses to secreted, latent and reactivation Mycobacterium tuberculosis antigens in a multi-site study of subjects with different TB and HIV infection states in sub-Saharan Africa 

      Sutherland, Jayne S.; Lalor, Maeve K.; Black, Gillian F.; Ambrose, Lyn R.; Loxton, Andre G.; Chegou, Novel N.; Kassa, Desta; Mihret, Adane; Howe, Rawleigh; Mayanja-Kizza, Harriet; Gomez, Marie P.; Donkor, Simon; Franken, Kees; Boom, W. Henry; Thiel, Bonnie A.; Crampin, Amelia C.; Hanekom, Willem; Klein, Michel R.; Parida, Shreemanta K.; Ota, Martin; Walzl, Gerhard; Ottenhoff, Tom H. M.; Dockrell, Hazel M.; Kaufmann, Stefan H. E. (Public Library of Science, 2013-09-10)
      Background: Tuberculosis (TB) remains a global health threat with 9 million new cases and 1.4 million deaths per year. In order to develop a protective vaccine, we need to define the antigens expressed by Mycobacterium ...
    • Analysis of two mutations in the MTHFR gene associated with mild hyperhomocysteinaemia - heterogeneous distribution in the South African population 

      Scholtz, Charlotte L.; Odendaal, Hein J.; Thiart, Rochelle; Loubser, Lynzie; Hillermann, Renate; Delport, Rhena; Hayward Vermaak, W. J.; Kotze, Maritha J. (Health and Medical Publishing Group (HMPG), 2002-06)
      Objective. The frequencies of mutations 677C→T and 1298A→C in the methylenetetrahydrofolate reductase (MTHFR) gene, previously shown to be associated with decreased enzyme activity that may lead to hyperhomocysteinaemia ...
    • Analysis of two mutations in the MTHFR gene associated with mild hyperhomocysteinaemia - heterogeneous distribution in the South African population 

      Scholtz, C. L.; Odendaal, H. J.; Thiart, R.; Loubser, L.; Hillermann, R.; Delport, R.; Hayward Vermaak, W. J.; Kotze, M. J. (Health & Medical Publishing Group, 2002-6)
      Objective. The frequencies of mutations 677C→T and 1298A→C in the methylenetetrahydrofolate reductase (MTHFR) gene, previously shown to be associated with decreased enzyme activity that may lead to hyperhomocysteinaemia ...