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Journal article

NOX1 loss-of-function genetic variants in patients with inflammatory bowel disease

Abstract:

Genetic defects that affect intestinal epithelial barrier function can present with very early-onset inflammatory bowel disease (VEOIBD). Using whole-genome sequencing, a novel hemizygous defect in NOX1 encoding NAPDH oxidase 1 was identified in a patient with ulcerative colitis-like VEOIBD. Exome screening of 1,878 pediatric patients identified further seven male inflammatory bowel disease (IBD) patients with rare NOX1 mutations. Loss-of-function was validated in p.N122H and p.T497A, and to ...

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Publication status:
Published
Peer review status:
Peer reviewed
Version:
Publisher's version

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Publisher copy:
10.1038/mi.2017.74

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Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
NDM Experimental Medicine
Role:
Author
More by this author
Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
NDM Experimental Medicine
Role:
Author
More by this author
Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
NDM Experimental Medicine
Role:
Author
More by this author
Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
NDM Experimental Medicine
Role:
Author
More by this author
Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
NDM Human Genetics Wt Centre
Role:
Author
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Medical Research Fund Oxford More from this funder
Deutsche Forschungsgemeinschaft More from this funder
Crohn’s and Colitis Foundation of America More from this funder
Crohn’s and Colitis UK More from this funder
Wellcome Trust More from this funder
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Publisher:
Springer Nature Publisher's website
Journal:
Mucosal Immunology Journal website
Volume:
11
Pages:
562–574
Publication date:
2017-11-01
Acceptance date:
2017-07-20
DOI:
EISSN:
1935-3456
ISSN:
1933-0219
Pubs id:
pubs:742353
URN:
uri:ad474e0e-5e19-4cc6-9288-a0e533a09a4b
UUID:
uuid:ad474e0e-5e19-4cc6-9288-a0e533a09a4b
Local pid:
pubs:742353

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