• 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 ...
    • 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 ...
    • 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)
    • 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 ...
    • Animal-adapted members of the Mycobacterium tuberculosis complex endemic to the southern African subregion 

      Clarke, Charlene; Van Helden, Paul; Miller, Michele; Parsons, Sven (AOSIS Publishing, 2016-04)
      Members of the Mycobacterium tuberculosis complex (MTC) cause tuberculosis (TB) in both animals and humans. In this article, three animal-adapted MTC strains that are endemic to the southern African subregion – that is, ...
    • Anti-mycobacterium tuberculosis activity of polyherbal medicines used for the treatment of tuberculosis in Eastern Cape, South Africa 

      Famewo, Elizabeth B.; Clarke, Anna M.; Wiid, Ian; Ngwane, Andile; Van Helden, Paul; Afolayan, Anthony J. (Makerere University, Faculty of Medicine, 2017)
      Background: The emergence of drug-resistant strains of Mycobacterium tuberculosis has become a global public health problem. Polyherbal medicines offer great hope for developing alternative drugs for the treatment of ...
    • Antigen-specific IP-10 release is a sensitive biomarker of mycobacterium bovis infection in cattle 

      Parsons, Sven D. C.; McGill, Kevina; Doyle, Mairead B.; Goosen, Wynand J.; Van Helden, Paul D.; Gormley, Eamonn (Public Library of Science, 2016)
      The most widely used ante-mortem diagnostic tests for tuberculosis in cattle are the tuberculin skin test and the interferon-gamma (IFN-γ) release assay, both of which measure cell-mediated immune responses to Mycobacterium ...
    • Application of cerebrospinal fluid host protein biosignatures in the diagnosis of tuberculous meningitis in children from a high burden setting 

      Manyelo, Charles M.; Solomons, Regan S.; Snyders, Candice I.; Manngo, Portia M.; Mutavhatsindi, Hygon; Kriel, Belinda; Stanley, Kim; Walzl, Gerhard; Chegou, Novel N. (Hindawi, 2019-04)
      Background. The diagnosis of tuberculous meningitis (TBM) especially in children is challenging. New tests are urgently needed for the diagnosis of the disease, especially in resource-limited settings. Methods. We collected ...
    • The association of OASL and type I interferons in the pathogenesis and survival of intracellular replicating bacterial species 

      Leisching, Gina; Wiid, Ian; Baker, Bienyameen (Frontiers Media, 2017)
      The type I IFN response quickly became associated with its role in the innate immune response to viral infection. The past few years have seen the significance of IFNs expand in breadth to include non-viral pathogens. ...
    • An automated tuberculosis screening strategy combining X-ray-based computer-aided detection and clinical information 

      Melendez, Jaime; Sanchez, Clara; Philipsen, Rick H. H. M.; Maduskar, Pragnya; Dawson, Rodney; Theron, Grant; Dheda, Keertan; Van Ginneken, Bram (Springer Nature, 2016)
      Lack of human resources and radiological interpretation expertise impair tuberculosis (TB) screening programmes in TB-endemic countries. Computer-aided detection (CAD) constitutes a viable alternative for chest radiograph ...
    • Bacterial loads measured by the Xpert MTB/RIF assay as markers of culture conversion and bacteriological cure in pulmonary TB 

      Shenai, Shubhada; Ronache, Katharina; Malherbe, Stefanus; Stanley, Kim; Kriel, Magdalena; Winter, Jill; Peppard, Thomas; Barry, Charles E.; Wang, Jing; Dodd, Lori E.; Via, Laura E.; Barry, Clifton E. 3rd; Walzl, Gerhard; Alland, David (Public Library of Science, 2016)
      Introduction: Biomarkers are needed to monitor tuberculosis (TB) treatment and predict treatment outcomes. We evaluated the Xpert MTB/RIF (Xpert) assay as a biomarker for TB treatment during and at the end of the 24 ...
    • Balanced chromosome translocations and abnormal phenotypes. A report of 5 cases 

      Van Heerden, K. M. M.; De Jong, G.; Fox, M. F.; Kotze, G. M.; Brusnicky, J.; Dietzsch, E.; Grobbelaar, J. J.; Retief, A. E. (Health & Medical Publishing Group, 1986-6)
      ENGLISH ABSTRACT: Five cases in which phenotypic abnormalities were found in association with apparent balanced chromosomal translocations are described. In 3 patients, one of the parents was found to be carrier of the ...
    • Baseline predictors of sputum culture conversion in pulmonary tuberculosis : importance of cavities, smoking, time to detection and W-Beijing genotype 

      Visser, Marianne E.; Stead, Michael C.; Walzl, Gerhard; Warren, Rob; Schomaker, Michael; Grewal, Harleen M. S.; Swart, Elizabeth C.; Maartens, Gary (PLOS, 2012-01-04)
      Background: Time to detection (TTD) on automated liquid mycobacterial cultures is an emerging biomarker of tuberculosis outcomes. The M. tuberculosis W-Beijing genotype is spreading globally, indicating a selective ...
    • Biochemical and genetic diagnosis of Smith-Lemli- Opitz syndrome in South Africa 

      Solomon, Gabriele Anna Eva; Jones, Graham; De Jong, Greetje; Marais, Adrian David (Health and Medical Publishing Group, 2015)
      Background. The Smith-Lemli-Opitz syndrome (SLOS), due to defective function of 7-dehydrocholesterol reductase, is an autosomal recessive disorder that is more common than other defects in cholesterol biosynthesis. The ...
    • Biomarkers of inflammation, immunosuppression and stress with active disease are revealed by metabolomic profiling of tuberculosis patients 

      Weiner, January; Parida, Shreemanta K.; Maertzdorf, Jeroen; Black, Gillian F.; Repsilber, Dirk; Telaar, Anna; Mohney, Robert P.; Arndt-Sullivan, Cordelia; Ganoza, Christian A.; Fae, Kellen C.; Walzl, Gerhard; Kaufmann, Stefan H. E. (Public Library of Science, 2012-07-23)
      Although tuberculosis (TB) causes more deaths than any other pathogen, most infected individuals harbor the pathogen without signs of disease. We explored the metabolome of >400 small molecules in serum of uninfected ...
    • Bovine tuberculosis in African buffaloes : observations regarding Mycobacterium bovis shedding into water and exposure to environmental mycobacteria 

      Michel, Anita L.; De Klerk, Lin-Mari; Gey van Pittius, Nico C.; Warren, Rob M.; Van Helden, Paul D. (BioMed Central, 2007-09)
      Background: African buffaloes are the maintenance host for Mycobacterium bovis in the endemically infected Kruger National Park (KNP). The infection is primarily spread between buffaloes via the respiratory route, but it ...