Affiliation: University of Nottingham
- CCL3L1 copy number, CCR5 genotype and susceptibility to tuberculosisDanielle Carpenter
School of Life Sciences, University of Nottingham, Nottingham NG7 2UH, UK
BMC Med Genet 15:5. 2014..The three populations include patients with clinically diagnosed pulmonary TB, as well as other, less prevalent forms of extrapulmonary TB...
- Functional effects of CCL3L1 copy numberD Carpenter
Centre for Genetics and Genomics and School of Biology, University of Nottingham, Nottingham, UK
Genes Immun 13:374-9. 2012..The data also provide evidence that expression of CCL3 predominates in both protein and mRNA, and therefore the observed variation of CCL3 is potentially more important biologically than that of CNV of CCL3L1...
- CCL3L1 copy number and susceptibility to malariaDanielle Carpenter
Centre for Genetics and Genomics, School of Biology, University of Nottingham, Nottingham NG7 2UH, UK
Infect Genet Evol 12:1147-54. 2012..We identified a high level of copy number haplotype diversity and find some evidence for an association of low CCL3L1 copy number with protection from anaemia...
- Analysis of RYR1 haplotype profile in patients with malignant hyperthermiaD Carpenter
MH Investigation Unit, Academic Unit Anaesthesia, Leeds Institute of Molecular Medicine, St James s University Hospital, Leeds LS97TF
Ann Hum Genet 73:10-8. 2009..G2434R/c.7300G>A. These results demonstrate the applicability of this new and practical method for population based association analysis...
- Genetics of susceptibility to malaria related phenotypesDanielle Carpenter
Faculty of Biological Sciences, Institute of Integrative and Comparative Biology, University of Leeds, Leeds, UK
Infect Genet Evol 9:97-103. 2009..There was no evidence for association with polymorphisms in the IL10 promoter, IL1 gene cluster, or from the IL4/IL13 region...
- A RYR1 mutation associated with recessive congenital myopathy and dominant malignant hyperthermia in Asian familiesDanielle Carpenter
MH Investigation Unit, Academic Unit Anaesthesia, St James s University Hospital, Leeds LS9 7TF, UK
Muscle Nerve 40:633-9. 2009..One individual from each of these families was fully sequenced for RYR1 and presented with the non-synonymous change c.11315G>A/p.R3772Q. When present in the homozygous state c.11315*A is associated with myopathic symptoms...
- The role of CACNA1S in predisposition to malignant hyperthermiaDanielle Carpenter
MH Investigation Unit, Academic Unit of Anaesthesia, St James s University Hospital, Leeds, LS9 7TF, UK
BMC Med Genet 10:104. 2009..This study focuses on the gene CACNA1S which encodes the alpha1 subunit of the DHPR, in order to establish whether CACNA1S plays a major role in MH susceptibility in the UK...
- Immunogenetic control of antibody responsiveness in a malaria endemic areaDanielle Carpenter
Institute of Integrative and Comparative Biology, University of Leeds, Leeds, England
Hum Immunol 68:165-9. 2007..There was a significant association between the IL1RN alleles and total IgE. Weak evidence for association was present between polymorphisms in the IL10 promoter region and both anti-P falciparum IgE and IgG4 antibodies...
- Unique TCR beta-subunit variable gene haplotypes in AfricansIan J Donaldson
Molecular Medicine Unit, Level 6, Clinical Sciences Building, St James s University Hospital, Leeds, LS9 7TF, UK
Immunogenetics 53:884-93. 2002..Evidence suggests that malaria is not responsible for selection of these haplotypes. Overall, this study highlights large differences in the genetic constitution of the TCRB locus between Africans and other populations...
- Obesity, starch digestion and amylase: association between copy number variants at human salivary (AMY1) and pancreatic (AMY2) amylase genesDanielle Carpenter
School of Life Sciences, Queen s Medical Centre, University of Nottingham, Nottingham NG7 2UH, UK
Hum Mol Genet 24:3472-80. 2015..Our results uncover new patterns in human amylase variation and imply a potential role for AMY2 CNV in functional associations. ..
- Accuracy and differential bias in copy number measurement of CCL3L1 in association studies with three auto-immune disordersDanielle Carpenter
Centre for Genetics and Genomics and School of Biology, University of Nottingham, UK
BMC Genomics 12:418. 2011..As the products of CCL3L1 and CCL4L1 potentially play a role in autoimmunity we performed case control association studies with Crohn's disease, rheumatoid arthritis and psoriasis clinical cohorts...
- Accurate measurement of gene copy number for human alpha-defensin DEFA1A3Fayeza F Khan
School of Biology, Queen s Medical Centre, University of Nottingham, Nottingham NG7 2UH, UK
BMC Genomics 14:719. 2013..The copy-variable alpha-defensin locus DEFA1A3 on human chromosome 8 commonly varies between 4 and 10 copies per diploid genome, and presents considerable challenges for accurate high-throughput typing...