A5015771262- Systemic Sclerosis and Related Diseases
- Systemic Lupus Erythematosus Research
- Immunodeficiency and Autoimmune Disorders
- Monoclonal and Polyclonal Antibodies Research
- Wnt/β-catenin signaling in development and cancer
- Genomics and Phylogenetic Studies
- Cancer-related molecular mechanisms research
- Molecular Biology Techniques and Applications
- Cytokine Signaling Pathways and Interactions
- Dermatological and Skeletal Disorders
- Connective Tissue Growth Factor Research
- Skin and Cellular Biology Research
- interferon and immune responses
- Kruppel-like factors research
- Protein Tyrosine Phosphatases
- Psoriasis: Treatment and Pathogenesis
- Dermatology and Skin Diseases
- MicroRNA in disease regulation
- T-cell and B-cell Immunology
- Immune Cell Function and Interaction
- Chronic Lymphocytic Leukemia Research
- Circular RNAs in diseases
- Immunotherapy and Immune Responses
- Plant and Fungal Interactions Research
- NF-κB Signaling Pathways
Mount Sinai Hospital
2023
Icahn School of Medicine at Mount Sinai
2019-2023
University of the Witwatersrand
2009-2021
National Health Laboratory Service
2012-2020
Institute of Human Genetics
2015
Chris Hani Baragwanath Hospital
2009
Objective High serum interferon α (IFNα) activity is a heritable risk factor for systemic lupus erythematosus (SLE). Auto-antibodies found in SLE form immune complexes which can stimulate IFNα production by activating endosomal Toll-like receptors and regulatory factors (IRFs), including IRF5. Genetic variation IRF5 associated with susceptibility; however, it unclear how functional genetic elements contribute to human disease. Methods 1034 patients 989 controls of European ancestry, 555 679...
Objective. To investigate the differential expression of MMP-1, tissue inhibitor metalloproteinase-1 (TIMP-1) and hepatocyte growth factor (HGF) in clinically involved (affected) uninvolved (unaffected) skin patients with SSc.
The aim of this study was to identify genetic variants associated with rheumatoid arthritis (RA) risk in black South Africans. Black African RA patients (n = 263) were compared healthy controls 374). Genotyping performed using the Immunochip, and four-digit high-resolution human leukocyte antigen (HLA) typing by DNA sequencing exon 2. Standard quality control measures implemented on data. strongest associations intergenic region between HLA-DRB1 HLA-DQA1 loci. After conditioning alleles,...
(1) Background: Understanding the function of circular RNAs (circRNAs), a class noncoding RNA, in psoriatic skin can provide important insights into complex regulation genes contributing to pathogenesis psoriasis. (2) Methods: A novel method was applied RNA-seq datasets from 93 biopsy samples comprehensively identify circRNAs all types, i.e., canonical intron-exon junctions mRNAs and interior (i-circRNAs) regions exons, introns, intergenic regions. Selected were experimentally validated by...
The rate of raw sequence production through Next-Generation Sequencing (NGS) has been growing exponentially due to improved technology and reduced costs. This enabled researchers answer many biological questions "multi-omics" data analyses. Even though such promises new insights into how systems function understanding disease mechanisms, computational analyses performed on large datasets comes with its challenges potential pitfalls. aim this study was develop a robust portable reproducible...
Metagenomics is a rapidly growing field aimed at identifying and characterizing the microbial genomes within diverse environmental samples. The key research area in metagenomics identification of non-host sequences host genomic background, which may represent potential microorganisms associated with host. aim this study was to develop an efficient, portable reproducible pipeline for reads from high throughput RNA sequencing (RNA-seq) data. nf-rnaSeqMetagen presented developed using Nextflow...
<h3>Background</h3> In recent years, the morphogen pathways (1), and specifically Wnt pathway has been implicated in development of fibrosis Systemic Sclerosis (SSc) (2). Animal studies have shown that dysregulation frizzled related protein (<i>FRZB</i>) (3), class receptor 4 (<i>FZD4</i>) (4) secreted 1 (<i>SFRP1</i>) (5) pathogenesis SSc. <h3>Objectives</h3> Examine differential gene expression methylation status 84 genes pathway. <h3>Methods</h3> Skin biopsies were taken from 8 black...
<h3>Background</h3> The “shared epitope” (SE) encoded by <i>HLA-DRB1</i> alleles are the strongest association with susceptibility for rheumatoid arthritis (RA). We have previously shown that 90% of black South African (BSA) RA patients carry at least one copy SE (1). Recently, Valine amino acid position 11 HLA-DRB1 chain was to confer risk in this region Europeans (2). <h3>Objectives</h3> To determine role acids specific positions seropositive BSA. <h3>Methods</h3> Consenting BSA (n=261)...
Systemic Lupus Erythematosus (SLE) is characterised by an hyperactive immune system, with loss of self-tolerance core to the pathophysiology. The nonsynonymous variant rs1143679 A in integrin-αM (ITGAM) gene strongly associated development SLE phenotype non-African populations, while no association has been found renal disease any populations. allele diminishes ITGAM function, disallowing effective phagocytosis, resultant inefficient removal antigen/immune complexes. This may lead chronic...