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A novel Pkhd1 mutation interacts with the nonobese 1Diabetic genetic background to cause autoimmune cholangitis

Abstract:

We previously reported that NOD.c3c4 mice develop spontaneous autoimmune biliary disease (ABD) with anti-mitochondrial Abs, histopathological lesions, and autoimmune T lymphocytes similar to human primary biliary cholangitis. In this article, we demonstrate that ABD in NOD.c3c4 and related NOD ABD strains is caused by a chromosome 1 region that includes a novel mutation in polycystic kidney and hepatic disease 1 (Pkhd1). We show that a long terminal repeat element inserted into intron 35 expo...

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.4049/jimmunol.1701087

Authors


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Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
NDM; Human Genetics Wt Centre
ORCID:
0000-0003-4931-3289
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ORCID:
0000-0002-2095-0623
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Publisher:
American Association of Immunologists Publisher's website
Journal:
Journal of Immunology Journal website
Volume:
200
Issue:
1
Pages:
147-162
Publication date:
2017-11-27
Acceptance date:
2017-10-19
DOI:
EISSN:
1550-6606
ISSN:
0022-1767
Pubs id:
pubs:796823
URN:
uri:27a4ed05-637f-40da-a6ca-7e859a64e95a
UUID:
uuid:27a4ed05-637f-40da-a6ca-7e859a64e95a
Local pid:
pubs:796823
Language:
English
Keywords:

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