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Activating germline...
Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease.
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Flanagan, Sarah E (author)
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Haapaniemi, Emma (author)
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Russell, Mark A (author)
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Caswell, Richard (author)
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Lango Allen, Hana (author)
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De Franco, Elisa (author)
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McDonald, Timothy J (author)
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Rajala, Hanna (author)
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- Ramelius, Anita (author)
- Lund University,Lunds universitet,Celiaki och diabetes,Forskargrupper vid Lunds universitet,Celiac Disease and Diabetes Unit,Lund University Research Groups
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Barton, John (author)
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Heiskanen, Kaarina (author)
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Heiskanen-Kosma, Tarja (author)
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Kajosaari, Merja (author)
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Murphy, Nuala P (author)
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Milenkovic, Tatjana (author)
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Seppänen, Mikko (author)
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- Lernmark, Åke (author)
- Lund University,Lunds universitet,Celiaki och diabetes,Forskargrupper vid Lunds universitet,Celiac Disease and Diabetes Unit,Lund University Research Groups
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Mustjoki, Satu (author)
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Otonkoski, Timo (author)
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- Kere, Juha (author)
- Karolinska Institutet
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Morgan, Noel G (author)
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Ellard, Sian (author)
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Hattersley, Andrew T (author)
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(creator_code:org_t)
- 2014-07-20
- 2014
- English.
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In: Nature Genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 46:8, s. 812-814
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Abstract
Subject headings
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- 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)
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- By the author/editor
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Flanagan, Sarah ...
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Haapaniemi, Emma
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Russell, Mark A
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Caswell, Richard
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Lango Allen, Han ...
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De Franco, Elisa
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show more...
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McDonald, Timoth ...
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Rajala, Hanna
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Ramelius, Anita
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Barton, John
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Heiskanen, Kaari ...
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Heiskanen-Kosma, ...
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Kajosaari, Merja
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Murphy, Nuala P
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Milenkovic, Tatj ...
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Seppänen, Mikko
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Lernmark, Åke
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Mustjoki, Satu
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Otonkoski, Timo
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Kere, Juha
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Morgan, Noel G
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Ellard, Sian
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Hattersley, Andr ...
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show less...
- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Endocrinology an ...
- Articles in the publication
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Nature Genetics
- By the university
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Lund University
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Karolinska Institutet