Search Results - "Hunt, Karen"
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Fine mapping in the MHC region accounts for 18% additional genetic risk for celiac disease
Published in Nature genetics (01-06-2015)“…Cisca Wijmenga and colleagues report fine mapping of the association signal in the MHC region in individuals with celiac disease. They identify five additional…”
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Transferability of genetic loci and polygenic scores for cardiometabolic traits in British Pakistani and Bangladeshi individuals
Published in Nature communications (09-08-2022)“…Individuals with South Asian ancestry have a higher risk of heart disease than other groups but have been largely excluded from genetic research. Using data…”
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Censorship and Self-Censorship: Revisiting the Belt Case in the Making of Dora Montefiore (1851–1933)
Published in 19: interdisciplinary studies in the long nineteenth century (07-12-2018)“…The Belt Case was a series of events that occurred in 1899 and 1900. At their heart sat gossip about Dora Montefiore (1851–1933) and an ‘inappropriate…”
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Comparative Analysis of NCLEX-RN Questions: A Duel Between ChatGPT and Human Expertise
Published in The Journal of nursing education (01-12-2023)“…Background: Artificial intelligence (AI) has the potential to revolutionize nursing education. This study compared NCLEX-RN questions generated by AI and those…”
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Health and population effects of rare gene knockouts in adult humans with related parents
Published in Science (American Association for the Advancement of Science) (22-04-2016)“…Examining complete gene knockouts within a viable organism can inform on gene function. We sequenced the exomes of 3222 British adults of Pakistani heritage…”
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Shared and Distinct Genetic Variants in Type 1 Diabetes and Celiac Disease
Published in The New England journal of medicine (25-12-2008)“…Type 1 diabetes and celiac disease, both of which are associated with HLA class II genes, cosegregate in populations, suggesting a common genetic origin. In…”
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Fine-scale population structure and demographic history of British Pakistanis
Published in Nature communications (10-12-2021)“…Previous genetic and public health research in the Pakistani population has focused on the role of consanguinity in increasing recessive disease risk, but…”
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Characterising a healthy adult with a rare HAO1 knockout to support a therapeutic strategy for primary hyperoxaluria
Published in eLife (24-03-2020)“…By sequencing autozygous human populations, we identified a healthy adult woman with lifelong complete knockout of (expected ~1 in 30 million outbred people)…”
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Negligible impact of rare autoimmune-locus coding-region variants on missing heritability
Published in Nature (London) (13-06-2013)“…A search for variants in coding exons of 25 genome-wide association study risk genes in a large cohort of autoimmune patients finds that rare coding-region…”
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Genome-wide analysis of allelic expression imbalance in human primary cells by high-throughput transcriptome resequencing
Published in Human molecular genetics (01-01-2010)“…Many disease-associated variants identified by genome-wide association (GWA) studies are expected to regulate gene expression. Allele-specific expression (ASE)…”
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Exome sequencing of 75 individuals from multiply affected coeliac families and large scale resequencing follow up
Published in PloS one (30-01-2015)“…Coeliac disease (CeD) is a highly heritable common autoimmune disease involving chronic small intestinal inflammation in response to dietary wheat. The human…”
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Complex nature of SNP genotype effects on gene expression in primary human leucocytes
Published in BMC medical genomics (07-01-2009)“…Genome wide association studies have been hugely successful in identifying disease risk variants, yet most variants do not lead to coding changes and how…”
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Muramyl dipeptide and toll-like receptor sensitivity in NOD2-associated Crohn's disease
Published in The Lancet (British edition) (21-05-2005)“…Both NOD2 (CARD15) alleles are mutated in roughly 15% of patients with Crohn's disease, but functional effects are unclear. We analysed the cytokine response…”
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Challenge Studies to Determine the Ability of Foods to Support the Growth of Listeria monocytogenes
Published in Pathogens (Basel) (05-10-2018)“…is a foodborne pathogen that causes listeriosis, a relatively rare, but potentially fatal, disease, with a mortality rate of 20⁻30%. In general, European…”
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case of bovine raw milk contamination with Listeria monocytogenes
Published in Irish Veterinary Journal (06-07-2012)“…During routine sampling of bulk raw milk on a dairy farm, the pathogenic bacteria Listeria monocytogenes was found to be a contaminant, at numbers < 100…”
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Clinical and radiologic assessments to predict breast cancer pathologic complete response to neoadjuvant chemotherapy
Published in Breast cancer research and treatment (01-08-2005)“…To prospectively compare the ability of clinical examination, mammography, vascularity-sensitive ultrasound, and magnetic resonance imaging (MRI) to determine…”
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Synergistic enhancement of Toll‐like receptor responses by NOD1 activation
Published in European journal of immunology (01-08-2005)“…NOD1 is an intracellular pattern‐recognition receptor specific for Gram‐negative peptidoglycan that is important in host response to infections (e.g…”
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Recent advances in coeliac disease genetics
Published in Gut (01-04-2009)Get more information
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A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21
Published in Nature genetics (01-07-2007)“…We tested 310,605 SNPs for association in 778 individuals with celiac disease and 1,422 controls. Outside the HLA region, the most significant finding…”
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