Alison September
University of Cape Town, Dept. of Human Biology, Faculty Member
MIGRATORY HISTORY OF POPULATIONS AND ITS USE IN DETERMINING RESEARCH DIRECTION FOR RETINAL DEGENERATIVE DISORDERS Raj Ramesar*, Alison September, George Rebello, Jacquie Greenberg and Rene Goliath 1. ABSTRACT South Africa represents an ...
Genes encoding for tenascin C and a subunit of type V collagen have previously been reported to be associated with Achilles tendon injuries. Types XII and XIV collagen may be involved in similar biological processes as these proteins in... more
Genes encoding for tenascin C and a subunit of type V collagen have previously been reported to be associated with Achilles tendon injuries. Types XII and XIV collagen may be involved in similar biological processes as these proteins in tendons. The aim of this study was therefore to test the association between polymorphisms within COL12A1 and COL14A1 and Achilles tendon injuries. Restriction fragment length polymorphism (RFLP) analysis was used to identify the relative frequencies of two polymorphisms within each of the COL12A1 and COL14A1 genes within 137 subjects with clinical symptoms of Achilles tendon injuries, consisting of 93 with Achilles tendinopathy and 44 with Achilles tendon rupture, and 131 asymptomatic control subjects. No statistically significant differences were identified in the genotype, allele or haplotype distributions between the affected and control subjects. The findings from this study suggest that although COL12A1 and COL14A1 are involved in similar biolo...
Research Interests:
To assess the mutation spectrum of ABCA4 underlying Stargardt disease (STGD) in South Africa (SA) and to determine whether there is a single or a few founder chromosomes in SA STGD families. Sixty-four probands exhibiting the STGD... more
To assess the mutation spectrum of ABCA4 underlying Stargardt disease (STGD) in South Africa (SA) and to determine whether there is a single or a few founder chromosomes in SA STGD families. Sixty-four probands exhibiting the STGD phenotype were screened for mutations in the 50 exons of ABCA4 by single-strand conformational polymorphism-heteroduplex analysis sequencing and restriction fragment length polymorphism analysis. Microsatellite marker haplotyping was used to determine the ancestry in 10 families. Fifty-seven ABCA4 disease-associated alleles were identified that comprised 16 different sequence variants, of which two were novel, in 40 individuals of the cohort of 64 subjects. The most common variants identified included the C1490Y, L2027F, R602W, V256splice, R152X, and 2588G-->C mutations. The C1490Y variant was the most common disease-associated variant identified (19/64 subjects) and was absent in 392 control chromosomes. At least 10 ABCA4 disease-associated haplotypes ...
Research Interests:
Tendons and ligaments within the upper and lower limbs are some of the more common sites of musculoskeletal injuries during physical activity. Several extrinsic and intrinsic factors have been shown to be associated with these injuries.... more
Tendons and ligaments within the upper and lower limbs are some of the more common sites of musculoskeletal injuries during physical activity. Several extrinsic and intrinsic factors have been shown to be associated with these injuries. More recently, studies have suggested that there is also, at least in part, a genetic component to the Achilles tendon, rotator cuff and anterior cruciate ligament injuries. However, specific genes have not been suggested to be associated with rotator cuff or anterior cruciate ligament injuries. Sequence variants of the tenascin C (TNC) gene, on the other hand, have been shown to be associated with Achilles tendinopathies and Achilles tendon ruptures, whereas a variant of the collagen V alpha 1 (COL5A1) gene has also been shown to be associated with Achilles tendinopathies. Both genes encode for important structural components of tendons and ligaments. The COL5A1 gene encodes for a component of type V collagen, which has an important role in regulati...
Research Interests:
Research Interests:
Abstract: Regular participation in physical activities is associated with the risk of developing musculoskeletal injuries, including soft tissue injuries to tendons. Although there is a high incidence of soft tissue injuries, the... more
Abstract: Regular participation in physical activities is associated with the risk of developing musculoskeletal injuries, including soft tissue injuries to tendons. Although there is a high incidence of soft tissue injuries, the aetiology of these tendon and other musculoskeletal ...
Research Interests:
Research Interests:
Research Interests:
Research Interests:
... The Alpha 1 Type V Collagen (Col5a1) Gene Is Associated With Chronic Achilles Tendonopathy.Collins, M; Mokone, G G.; Gajjar, M; September, A; Greenberg, J; Schwellnus, M P. FACSM; Noakes, T D. Collapse Box Abstract. An abstract is... more
... The Alpha 1 Type V Collagen (Col5a1) Gene Is Associated With Chronic Achilles Tendonopathy.Collins, M; Mokone, G G.; Gajjar, M; September, A; Greenberg, J; Schwellnus, M P. FACSM; Noakes, T D. Collapse Box Abstract. An abstract is unavailable. ...
Research Interests:
Research Interests:
Research Interests:
Research Interests:
Research Interests:
Research Interests:
Research Interests:
Research Interests:
Research Interests: Engineering and Education
Research Interests:
Research Interests:
... The evidence implicating cytokines and inflammatory mediators in the development oftendinopathy is growing ... Functional polymorphisms within interleukin-1 (IL)<beta> (−31T>C and −511C>T), IL-1RN (VNTR) and IL-6... more
... The evidence implicating cytokines and inflammatory mediators in the development oftendinopathy is growing ... Functional polymorphisms within interleukin-1 (IL)<beta> (−31T>C and −511C>T), IL-1RN (VNTR) and IL-6 (−172G>C), were investigated for associations with AT in ...
Research Interests:
Abstract Introduction Achilles tendinopathy (AT) is a multifactorial condition for which various genetic risk factors have been identified. More specifically, five single nucleotide polymorphisms (SNPs) have been associated with and/or... more
Abstract Introduction Achilles tendinopathy (AT) is a multifactorial condition for which various genetic risk factors have been identified. More specifically, five single nucleotide polymorphisms (SNPs) have been associated with and/or suggested to be implicated in ...
Research Interests:
Research Interests:
Research Interests:
Research Interests:
Research Interests:
Research Interests: Sports Medicine, Exercise Physiology, Polymorphism, Hypoxia, Sports Performance, and 21 moreHealth, Molecular Genetics, Swimming, Bioenergetics, Sports, Molecular Biology and genetics, South Africa, Humans, Male, Triathlon, Sport Science, Phenotype, Clinical Sciences, Annals of Human Genetics, Genotype, Adult, Altitude, Base Sequence, Aquatic Sports, Case Control Studies, and Physical Endurance
Research Interests:
Abstract: This article aims to assess the evidence related to the intrinsic risk factors for anterior cruciate ligament (ACL) ruptures. The level of evidence (according to evidence-based guidelines) for each study and the level of... more
Abstract: This article aims to assess the evidence related to the intrinsic risk factors for anterior cruciate ligament (ACL) ruptures. The level of evidence (according to evidence-based guidelines) for each study and the level of certainty for each risk factor were determined. After a review of the evidence, femoral notch geometry was the only risk factor that was found to be associated with risk of ACL rupture with high certainty. This review concludes that more research, particularly high-quality, prospective studies, are required ...