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Journal article

Human TGF-β1 deficiency causes severe inflammatory bowel disease and encephalopathy

Abstract:

Transforming growth factor (TGF)-β1 (encoded by TGFB1) is the prototypic member of the TGF-β family of 33 proteins that orchestrate embryogenesis, development and tissue homeostasis1,2. Following its discovery 3 , enormous interest and numerous controversies have emerged about the role of TGF-β in coordinating the balance of pro- and anti-oncogenic properties4,5, pro- and anti-inflammatory effects 6 , or pro- and anti-fibrinogenic characteristics 7 . Here we describe three individuals from tw...

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1038/s41588-018-0063-6

Authors


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Care-for-Rare Foundation More from this funder
Leona M. and Harry B. Helmsley Charitable Trust More from this funder
Collaborative Research Consortium SFB1054 More from this funder
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Publisher:
Springer Nature Publisher's website
Journal:
Nature Genetics Journal website
Volume:
50
Pages:
344–348
Publication date:
2018-02-26
Acceptance date:
2018-01-12
DOI:
EISSN:
1546-1718
ISSN:
1061-4036
Pmid:
29483653
Source identifiers:
827224
Language:
English
Pubs id:
pubs:827224
UUID:
uuid:5485890d-d737-4e5c-89cb-6f134cc90f71
Local pid:
pubs:827224
Deposit date:
2018-03-02

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