User profiles for R. S. Ramesar
R RamesarProfessor 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 …
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. …
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…
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 …
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 …
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. …
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
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 …
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 …
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 …
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 …
that shows high homology with members of the WD-40–repeat protein family. The gene …