id:"swepub:oai:lup.lub.lu.se:cdb73d90-8d5e-4300-8ce1-65d1f876cce7"
Search: id:"swepub:oai:lup.lub.lu.se:cdb73d90-8d5e-4300-8ce1-65d1f876cce7" > Activating germline...
- 1 of 1
- Previous record
- Next record
- To hitlist
Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease.
- Flanagan, Sarah E (author)
- Haapaniemi, Emma (author)
- Russell, Mark A (author)
- show more...
- Caswell, Richard (author)
- Lango Allen, Hana (author)
- De Franco, Elisa (author)
- McDonald, Timothy J (author)
- Rajala, Hanna (author)
- Barton, John (author)
- Heiskanen, Kaarina (author)
- Heiskanen-Kosma, Tarja (author)
- Kajosaari, Merja (author)
- Murphy, Nuala P (author)
- Milenkovic, Tatjana (author)
- Seppänen, Mikko (author)
- Mustjoki, Satu (author)
- Otonkoski, Timo (author)
- Morgan, Noel G (author)
- Ellard, Sian (author)
- Hattersley, Andrew T (author)
- show less...
- (creator_code:org_t)
- 2014-07-20
- 2014
- English.
- In: Nature Genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 46:8, s. 812-814
- Journal article (peer-reviewed)
Abstract
Subject headings
Close
- Monogenic causes of autoimmunity provide key insights into the complex regulation of the immune system. We report a new monogenic cause of autoimmunity resulting from de novo germline activating STAT3 mutations in five individuals with a spectrum of early-onset autoimmune disease, including type 1 diabetes. These findings emphasize the critical role of STAT3 in autoimmune disease and contrast with the germline inactivating STAT3 mutations that result in hyper IgE syndrome.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Endokrinologi och diabetes (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Endocrinology and Diabetes (hsv//eng)
Publication and Content Type
- art (subject category)
- ref (subject category)
Find in a library
- Nature Genetics (Search for host publication in LIBRIS)
To the university's database
- 1 of 1
- Previous record
- Next record
- To hitlist
Find more in SwePub
- By the author/editor
- Flanagan, Sarah ...
- Haapaniemi, Emma
- Russell, Mark A
- Caswell, Richard
- Lango Allen, Han ...
- De Franco, Elisa
- show more...
- McDonald, Timoth ...
- Rajala, Hanna
- Ramelius, Anita
- Barton, John
- Heiskanen, Kaari ...
- Heiskanen-Kosma, ...
- Kajosaari, Merja
- Murphy, Nuala P
- Milenkovic, Tatj ...
- Seppänen, Mikko
- Lernmark, Åke
- Mustjoki, Satu
- Otonkoski, Timo
- Kere, Juha
- Morgan, Noel G
- Ellard, Sian
- Hattersley, Andr ...
- show less...
- About the subject
-
- MEDICAL AND HEALTH SCIENCES
- MEDICAL AND HEAL ...
- and Clinical Medicin ...
- and Endocrinology an ...
- Articles in the publication
- Nature Genetics
- By the university
- Lund University
- Karolinska Institutet
Search outside SwePub
- Extend your search to:
- Google Book Search
- Google Scholar
Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.
- Copyright © LIBRIS - National Library Systems
- LIBRIS.kb.se
