User profiles for R. S. Ramesar

R Ramesar

Professor of Human Genetics, University of Cape Town, South Africa
Verified email at uct.ac.za
Cited by 16900

[HTML][HTML] LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development

…, E Lemyre, T Letteboer, L Peltonen, RS Ramesar… - Cell, 2001 - cell.com
In humans, low peak bone mass is a significant risk factor for osteoporosis. We report that
LRP5, encoding the low-density lipoprotein receptor-related protein 5, affects bone mass …

Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13)

…, J Greenberg, RS Ramesar… - Human molecular …, 2001 - academic.oup.com
Retinitis pigmentosa (RP) is a genetically heterogeneous disorder characterized by progressive
degeneration of the peripheral retina leading to night blindness and loss of visual fields. …

Genetic variants implicated in personality: a review of the more promising candidates

JB Savitz, RS Ramesar - … journal of medical genetics Part B …, 2004 - Wiley Online Library
Alleles of the serotonin transporter gene (SERT) and the dopamine 4 receptor gene (DRD4)
were first associated with anxiety‐related and novelty‐seeking personality traits, respectively…

Genetics of schizophrenia in the South African Xhosa

…, RA Gibbs, Z Zingela, M Nagdee, RS Ramesar… - Science, 2020 - science.org
Africa, the ancestral home of all modern humans, is the most informative continent for
understanding the human genome and its contribution to complex disease. To better understand …

[PDF][PDF] Structural variants create new topological-associated domains and ectopic retinal enhancer-gene contact in dominant retinitis pigmentosa

…, RK Koenekoop, M Michaelides, RS Ramesar… - The American Journal of …, 2020 - cell.com
The cause of autosomal-dominant retinitis pigmentosa (adRP), which leads to loss of vision
and blindness, was investigated in families lacking a molecular diagnosis. A refined locus for …

[PDF][PDF] Obesity, aspirin, and risk of colorectal cancer in carriers of hereditary colorectal cancer: a prospective investigation in the CAPP2 study

…, PJ Morrison, V Murday, RS Ramesar… - Journal of Clinical …, 2015 - core.ac.uk
… Eligible participants (in 43 centers across 16 countries) were randomly assigned separately
in a factorial design to aspirin 600 mg per day and/or RS 30 g per day, with placebo controls. …

Neuropsychological task performance in bipolar spectrum illness: genetics, alcohol abuse, medication and childhood trauma

…, DJ Stein, M Solms, RS Ramesar - Bipolar …, 2008 - Wiley Online Library
Introduction: Impaired executive and memory function is a putative genetic trait marker of
bipolar I disorder (BPD I). Although executive/memory function has been posited to be an …

Mutational bias provides a model for the evolution of Huntington's disease and predicts a general increase in disease prevalence

…, W Amos, J Leggo, S Goodburn, RS Ramesar… - Nature Genetics, 1994 - nature.com
Huntington's disease (HD) correlates with abnormal expansion in a block of CAG repeats in
the Huntington's disease gene. We have investigated HD evolution by typing CAG alleles in …

Cancer prevention with resistant starch in Lynch syndrome patients in the CAPP2-randomized placebo controlled trial: planned 10-year follow-up

…, PJ Morrison, J Rashbass, RS Ramesar… - Cancer prevention …, 2022 - AACR
… no effect of RS on colorectal cancer risk (HR, 0.92; 95% CI, 0.62–1.34; P = 0.63). There was
no interaction between aspirin and RS treatments. In conclusion, 30 g daily RS appears to …

[PDF][PDF] X-linked late-onset sensorineural deafness caused by a deletion involving OA1 and a novel gene containing WD-40 repeats

MT Bassi, RS Ramesar, B Caciotti, IM Winship… - The American Journal of …, 1999 - cell.com
We have identified a novel gene, transducin (β)–like 1 (TBL1), in the Xp22.3 genomic region,
that shows high homology with members of the WD-40–repeat protein family. The gene …