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Browsing by Author "Ramesar, Rajkumar"

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Arrhythmogenic right ventricular cardiomyopathy type 6 (ARVC6): support for the locus assignment, narrowing of the critical region and mutation screening of three candidate genes

Author: Matolweni, Luzuko ; Bardien, Soraya ; Rebello, George ; Oppon, Ekow ; Munclinger, Miroslav ; Ramesar, Rajkumar ; Watkins, Hugh ; Mayosi, Bongani Date: 2006 BACKGROUND:Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a heritable disorder characterized by progressive degeneration of right ventricular myocardium, arrhythmias and an increased risk of sudden death at a young age. By linkage ... Read more c b
Common ABCA4 mutations in South Africans: frequencies, pathogenicity and genotype-phenotype correlations

Author: Nossek, C Date: 2010 Stargardt disease (STGD), a juvenile-onset form of macular dystrophy resulting in a severe reduction of central vision, may be inherited in either an autosomal recessive or autosomal dominant manner. To date the only gene found to be involved ... Read more
Computational analysis of candidate disease genes and variants for salt-sensitive hypertension in indigenous Southern Africans

Author: Tiffin, Nicki ; Meintjes, Ayton ; Ramesar, Rajkumar ; Bajic, Vladimir B. ; Rayner, Brian Date: 2010 Multiple factors underlie susceptibility to essential hypertension, including a significant genetic and ethnic component, and environmental effects. Blood pressure response of hypertensive individuals to salt is heterogeneous, but salt ... Read more c b
Elucidating the genetic aetiology of Bipolar Disorder

Author: Engelbrecht, Hannah-Ruth Date: 2018 Introduction: Bipolar disorder (BD) is a debilitating mood disorder with substantial genetic contributions. However, while the existence of its heritability is well-established, the precise genetic components and mechanisms of BD remain ... Read more
Genetic analysis of bipolar disorder and alcohol use disorder

Author: Dalvie, Shareefa Date: 2015 Background: Mental health disorders represent a major public health problem in most countries around the world. In South Africa, the lifetime prevalence of psychiatric disorders is 30.3%, with substance-use disorders and mood disorders being ... Read more
Genetic analysis of inherited retinal diseases in indigenous Southern African populations

Author: Roberts, Lisa Jane Date: 2017 Background: Inherited retinal diseases (IRDs) constitute a group of clinically and genetically heterogeneous conditions which cause degeneration of retinal photoreceptor cells and result in visual impairment. Characterisation of the genetic ... Read more
Genetic variation at selected SNPs in the leptin gene and association of alleles with markers of kidney disease in a Xhosa population of South Africa

Author: Okpechi, Ikechi G ; Rayner, Brian L ; van der Merwe, Lize ; Mayosi, Bongani M ; Adeyemo, Adebowale ; Tiffin, Nicki ; Ramesar, Rajkumar Date: 2010 BACKGROUND: Chronic kidney disease (CKD) is a significant public health problem that leads to end-stage renal disease (ESRD) with as many as 2 million people predicted to need therapy worldwide by 2010. Obesity is a risk factor for CKD and ... Read more c b
Genetics of age-related macular degeneration and Stargardt disease in South African populations

Author: Baard, Johannes Date: 2016 Background: The Retinal Degenerative Diseases (RDD) Research Group in the Division of Human Genetics at UCT has for the past 25 years been intensively investigating a range of RDD phenotypes. Two points of particular note have emerged regarding ... Read more
The genetics of anthracycline-induced cardiotoxicity in cancer patients

Author: Naidoo, Horacia Date: 2018 INTRODUCTION: Breast cancer makes up 25% of all cancers diagnosed worldwide. Despite an increasing yearly incidence, there has been a significant decrease in mortality owing to early diagnosis and advances in treatment. Anthracycline-based ... Read more
A Genomic Portrait of Haplotype Diversity and Signatures of Selection in Indigenous Southern African Populations

Author: Chimusa, Emile R ; Meintjies, Ayton ; Tchanga, Milaine ; Mulder, Nicola ; Seoighe, Cathal ; Soodyall, Himla ; Ramesar, Rajkumar Date: 2015 We report a study of genome-wide, dense SNP (∼900K) and copy number polymorphism data of indigenous southern Africans. We demonstrate the genetic contribution to southern and eastern African populations, which involved admixture between ... Read more c b
Genomics of Lynch syndrome and Constitutional mismatch repair deficiency syndrome

Author: Lamola, Lindiwe Date: 2018 Introduction: The mismatch repair system plays an important role in maintaining the genome integrity as it functions to correct mismatches during DNA replication. Heterozygous mutations in one of the mismatch repair (MMR) genes e.g. MLH1, ... Read more
Investigating the genetic basis of cisplatin-induced ototoxicity in adult South African patients

Author: Spracklen, Timothy Francis Date: 2016 Cisplatin, a potent chemotherapeutic agent, is widely used in the treatment of numerous soft-tissue cancers. Although high cure rates can be achieved when cisplatin is incorporated in chemotherapy regimens, the therapeutic utility of the drug ... Read more
An investigation into factors which have an impact on access to and utilisation of the genetic and endoscopic surveillance clinic offered to high-risk members of known Lynch families

Author: Bruwer, Zandré Date: 2011 The Genetic and Endoscopic Surveillance Clinic provides predictive testing and life-saving colorectal cancer screening services to individuals with Lynch syndrome in the Western and Northern Cape provinces of South Africa. The risk of colorectal ... Read more
An investigation into the molecular basis of familial forms of osteoarthropathy in South Africa

Author: Ballo, Robea Date: 1998 Generalised osteoarthritis (OA) is a common disorder of the joints which can lead to pain and disability. Identification of the determinant gene(s) is limited in part by the lack of Mendelian inheritance in most forms of the disorder, the ... Read more
The molecular genetic and epidemiological investigation of colorectal cancer in South Africa

Author: Felix, Rebecca Date: 2003 Cancer of the colon and rectum is the third-most common cause of death due to neoplasia in Western countries. Colorectal cancer (CRC) can broadly be divided into the hereditary, non-hereditary and sporadic forms. Hereditary cancers account ... Read more
A molecular investigation of the novel gene underlying autosomal dominant retinitis pigmentosa in a South African family

Author: Bardien-Kruger, Soraya Date: 1999 The inherited retinal degenerative disorders are a common cause of severe visual handicap in the W estem world. Retinitis pigmentosa (RP) is a group of retinopathies in which a primary feature is a progressive loss of photoreceptor and retinal ... Read more
Psychological trauma and posttraumatic stress disorder in a South African birth cohort study

Author: Koen, Nastassja Date: 2015 Psychological trauma - including exposure to intimate partner violence (IPV) - is highly prevalent in South Africa, and may result in posttraumatic stress disorder (PTSD) in a subset of individuals. Pregnant women and new mothers are particularly ... Read more
PXR and CAR single nucleotide polymorphisms influence plasma efavirenz levels in South African HIV/AIDS patients

Author: Swart, Marelize ; Whitehorn, Heather ; Ren, Yuan ; Smith, Peter ; Ramesar, Rajkumar ; Dandara, Collet Date: 2012 BACKGROUND: This study investigated variation in NR1I2 and NR1I3 and its effect on plasma efavirenz levels in HIV/AIDS patients. Variability in plasma drug levels has largely led research on identifying causative variants in drug metabolising ... Read more c b
Sickle cell anaemia in Cameroon : co-inheritance of α-thalassemia, HBB gene haplotypes, clinical & haematological characterisations

Author: Rumaney, Maryam Date: 2015 Background: Although sickle cell anaemia (SCA) is genetically characterised by a single point mutation, patients can manifest varying degrees of clinical severity due to various genetic modulators that affect the phenotype of this disease. ... Read more
The story of Anna P. : as told by herself

Author: Busetto, Penny Date: 2011 This is a book about the fragility of memory and identity, and the nature of time. It has three parts reflecting the past, present and future of a woman, Anna P, who lives on an island off the coast of Italy but can no longer remember how she ... Read more

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