A5055137419- Tendon Structure and Treatment
- Knee injuries and reconstruction techniques
- Sports injuries and prevention
- Shoulder Injury and Treatment
- Traumatic Brain Injury Research
- Genetics and Physical Performance
- Cardiovascular Effects of Exercise
- Osteoarthritis Treatment and Mechanisms
- Veterinary Equine Medical Research
- Orthopedic Surgery and Rehabilitation
- Plant and fungal interactions
- Cancer Treatment and Pharmacology
- Retinal Development and Disorders
- Traumatic Brain Injury and Neurovascular Disturbances
- Sports Performance and Training
- Total Knee Arthroplasty Outcomes
- Angiogenesis and VEGF in Cancer
- Exercise and Physiological Responses
- Circular RNAs in diseases
- Health, Environment, Cognitive Aging
- Suicide and Self-Harm Studies
- Mechanical stress and fatigue analysis
- Fatty Acid Research and Health
- Cancer-related molecular mechanisms research
- Venous Thromboembolism Diagnosis and Management
University of Cape Town
2015-2025
Sports Science Institute of South Africa
2012-2023
Wojskowy Instytut Higieny i Epidemiologii
2017
University of Northampton
2015
U.S. National Science Foundation
2015
South African Medical Research Council
2014
Setshaba Research Centre
2011
Background Anterior cruciate ligament ruptures, especially to young female athletes, are a cause of major concern in the sports medicine fraternity. The structural constituents ligaments collagens, specifically types I and V. Recently, gene that encodes for α1 chain type collagen ( COL1A1) has been shown be associated with an increased risk ruptures. COL5A1 gene, which V collagen, Achilles tendon injuries. Purpose study was conducted determine (1) if 2 sequence variants BstUI DpnII...
Background Although there is a high incidence of tendon injury as result participation in physical activity, the mechanisms responsible for such injuries are poorly understood. Investigators have suggested that some people may genetic predisposition to develop injuries; particular, genes on tip long arm chromosome 9 might, at least part, be associated with this condition. The tenascin-C gene, which has been mapped 9q32-q34, encodes structural component tendons. Hypothesis gene Achilles...
A COL5A1 gene variant was shown to be associated with chronic Achilles tendinopathy in a South African population. The aim of this case-control genetic association study investigate the BstUI and DpnII restriction fragment length polymorphisms (RFLP) second population from Australia identify predisposing haplotype for both populations.85 Australian 93 patients tendinopathy, as well 210 132 white control subjects were genotyped (rs12722) (rs13946) RFLP, markers rs10858286, rs3196378,...
Anterior cruciate ligament (ACL) ruptures are considered the most severe injury sustained in sports. Although various intrinsic and extrinsic risk factors have been identified, exact aetiology of is not yet fully understood. Recently, gene encoding for alpha1 chain type I collagen (COL1A1) has shown to be associated with shoulder dislocations.To determine whether functional Sp1 binding site polymorphism within intron 1 COL1A1 specifically ACL an independent population.117 Caucasian...
Background Anterior cruciate ligament (ACL) ruptures are among the most severe musculoskeletal soft tissue injuries. However, exact mechanisms which cause these acute injuries unknown. Recently, sequence variants within two genes, namely COL1A1 and COL5A1 , code for α1 chains of types I V collagen respectively, were shown to be associated with ACL ruptures. Type XII collagen, similarly is a structural component fibril encoded by single gene, COL12A1 . Objective The aim this study was...
Abstract Achilles tendinopathy (AT) is a degenerative condition for which several risk factors have been implicated including components of the inflammatory pathway. The aim was to assess functional variants within genes encoding apoptosis signaling cascade and effectiveness polygenic profile capture (TEN) risk. A total 358 unaffected control (CON) participants [159 South Africa (SA CON) 199 Australia (AUS CON)] 166 affected AT (87 SA TEN 79 AUS TEN) were genotyped four [ CASP8 (rs384129),...
Angiogenesis-associated signaling is a fundamental component in the remodeling of extracellular matrix response to loading. Genes encoding protein components within this cascade are therefore suitable candidates for investigation into ACL injury susceptibility: namely, vascular endothelial growth factor A isoform (VEGFA), kinase insert-domain receptor (KDR), nerve (NGF), and hypoxia inducible factor-1α (HIF1A). case-control genetic association study was conducted on 227 asymptomatic control...
Background Genetic variants within genes involved in fibrillogenesis have previously been implicated anterior cruciate ligament (ACL) injury susceptibility. Proteoglycans also important functions and maintaining the structural integrity of ligaments. Genes encoding proteoglycans are plausible candidates to be investigated for associations with ACL susceptibility; polymorphisms aggrecan ( ACAN ), biglycan BGN decorin DCN fibromodulin FMOD ) lumican LUM were examined. Methods A case–control...
Summary Alpha‐actinins are major structural components of the Z‐discs in skeletal muscle. Alpha‐actinin 3 is encoded by ACTN3 gene and expressed only type II muscle fibres. Homozygosity for nonsense mutation, 577X, within results deficiency α‐actinin‐3 but does not result an abnormal muscular phenotype. Previous research has found association 577R allele with sprinting and/or power performance. It also been suggested that 577X may confer advantage during endurance events. Four hundred fifty...
There is an interest in identifying the intrinsic risk factors, including altered musculotendinous flexibility, that may be associated with injuries. We have recently shown a sequence variant, namely Bst UI restriction fragment length polymorphism (RFLP), within COL5A1 gene chronic Achilles tendinopathy. Mutations been implicated Ehlers Danlos syndrome, condition characterized by joint hypermobility. The aim of this study was to investigate association variants and range motion (ROM). sit...
Abstract The TNC gene has previously been associated with Achilles tendinopathy (AT) in a South African population. aims of this study were (i) to investigate the association single nucleotide polymorphisms within gene, and additional candidate COL27A1 , AT two populations, (ii) identify if there is risk haplotype for both populations. Three hundred thirty nine healthy control participants (CON) 179 clinically diagnosed (TEN) from Africa Australia, genotyped variants: rs4143245, rs1249744,...
Type XI collagen, which is expressed in developing tendons and encoded by the COL11A1, COL11A2 COL2A1 genes, shares structural functional homology with type V plays an important role collagen fibril assembly. We investigated association of these three polymorphisms Achilles tendinopathy (AT) whether interact COL5A1 to modulate risk AT.184 participants diagnosed chronic AT (TEN) 338 appropriately matched asymptomatic controls (CON) were genotyped for polymorphisms.Although there no...
Abstract Collagen alpha-1(V) chain, encoded by the COL5A1 gene, plays a crucial role in abundant fibrillar collagens supporting many tissues body containing type I collagen and appears to regulate association between heterotypic fibers composed of both V occurring among others muscles, tendons ligaments. Taking this fact into consideration we decided examine rs12722 rs13946 polymorphisms, individually as inferred haplotypes, with anterior cruciate ligament rupture risk (ACLR) professional...
Musculoskeletal soft tissue injuries are complex phenotypes with genetics being one of many proposed risk factors. Case-control association studies using the candidate gene approach have predominately been used to identify loci for these injuries. However, ability all conferring variants this alone is unlikely. Therefore, study aimed further define genetic profile an integrated omics involving whole exome sequencing and a customised analyses pipeline. The exomes ten exemplar asymptomatic...
Abstract Background Approximately 5% of people infected with Mycobacterium tuberculosis progress to (TB) disease without preventive therapy. There is a need for prognostic test identify those at highest risk incident TB so that therapy can be targeted. We evaluated host blood transcriptomic signatures progression disease. Methods Close contacts (≥4 hours exposure per week) adult patients culture-confirmed pulmonary were enrolled in Brazil. Investigation incident, microbiologically confirmed,...
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 XIV may involved in similar biological processes as these proteins tendons. The aim this study was therefore test the association between polymorphisms within COL12A1 COL14A1 Restriction fragment length polymorphism (RFLP) analysis used identify relative frequencies two each genes 137 subjects clinical symptoms injuries, consisting 93...
Objectives Achilles tendinopathy (AT) is a multifactorial condition for which genetic risk factors have been identified. A pathway-based approach was used to investigate genes within the inflammatory pathway. Methods Functional polymorphisms IL-1β (−31T→C and −511C→T), IL-1RN (variable number tandem repeat) IL-6 (−172G→C) were investigated associations with AT in South African (SA) Australian (AUS) case–control studies. total of 369 (161 SA 208 AUS) asymptomatic control participants (CON)...