ORCID Profile
0000-0002-6031-1017
Current Organisation
University of Nottingham
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Publisher: Elsevier BV
Date: 03-2018
DOI: 10.1038/MI.2017.74
Publisher: American Society of Hematology
Date: 20-12-2017
DOI: 10.1182/BLOODADVANCES.2017010041
Abstract: Using EBMT data in patients from 1994 to 2015, we analyzed the development and factors influencing outcomes of HSCT for ADs. Transplant center experience, accreditation, and national socioeconomic factors are relevant for outcomes and future health service delivery.
Publisher: Springer Science and Business Media LLC
Date: 09-08-2016
DOI: 10.1038/NCOMMS12342
Abstract: Protein-truncating variants protective against human disease provide in vivo validation of therapeutic targets. Here we used targeted sequencing to conduct a search for protein-truncating variants conferring protection against inflammatory bowel disease exploiting knowledge of common variants associated with the same disease. Through replication genotyping and imputation we found that a predicted protein-truncating variant (rs36095412, p.R179X, genotyped in 11,148 ulcerative colitis patients and 295,446 controls, MAF=up to 0.78%) in RNF186 , a single-exon ring finger E3 ligase with strong colonic expression, protects against ulcerative colitis (overall P =6.89 × 10 −7 , odds ratio=0.30). We further demonstrate that the truncated protein exhibits reduced expression and altered subcellular localization, suggesting the protective mechanism may reside in the loss of an interaction or function via mislocalization and/or loss of an essential transmembrane domain.
Publisher: Ecancer Global Foundation
Date: 22-02-2018
Publisher: Elsevier BV
Date: 09-2015
Publisher: Springer Science and Business Media LLC
Date: 09-01-2017
DOI: 10.1038/NG.3761
Publisher: Springer Science and Business Media LLC
Date: 20-07-2015
DOI: 10.1038/NG.3359
Publisher: Elsevier BV
Date: 2016
Location: United Kingdom of Great Britain and Northern Ireland
Location: United Kingdom of Great Britain and Northern Ireland
No related grants have been discovered for Chris Hawkey.