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240718s2024 xx |||||o 00| ||eng c |
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|a 10.1016/j.clim.2024.110312
|2 doi
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|a pubmed24n1549.xml
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|a (NLM)39019339
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|a DE-627
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|e rakwb
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|a eng
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|a Meesilpavikkai, Kornvalee
|e verfasserin
|4 aut
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| 245 |
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|a A patient-based murine model recapitulates human STAT3 gain-of-function syndrome
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|c 2024
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| 336 |
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|a Text
|b txt
|2 rdacontent
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|a ƒaComputermedien
|b c
|2 rdamedia
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|a ƒa Online-Ressource
|b cr
|2 rdacarrier
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|a Date Completed 16.08.2024
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|a Date Revised 26.09.2024
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|a published: Print-Electronic
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|a Citation Status MEDLINE
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|a Copyright © 2024 Erasmus Medical Center. Published by Elsevier Inc. All rights reserved.
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|a STAT3 gain-of-function (GOF) variants results in a heterogeneous clinical syndrome characterized by early onset immunodeficiency, multi-organ autoimmunity, and lymphoproliferation. While 191 documented cases with STAT3 GOF variants have been reported, the impact of individual variants on immune regulation and the broad clinical spectrum remains unclear. We developed a Stat3p.L387R mouse model, mirroring a variant identified in a family exhibiting common STAT3 GOF symptoms, and rare phenotypes including pulmonary hypertension and retinal vasculitis. In vitro experiments revealed increased STAT3 phosphorylation, nuclear migration, and DNA binding of the variant. Our Stat3p.L387R model displayed similar traits from previous Stat3GOF strains, such as splenomegaly and lymphadenopathy. Notably, Stat3p.L387R/+ mice exhibited heightened embryonic lethality compared to prior Stat3GOF/+ models and ocular abnormalities were observed. This research underscores the variant-specific pathology in Stat3p.L387R/+ mice, highlighting the ability to recapitulate human STAT3 GOF syndrome in patient-specific transgenic murine models. Additionally, such models could facilitate tailored treatment development
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|a Journal Article
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|a Autoimmunity
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|a Immune regulatory disorders
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|a Immunodeficiency
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|a Patient-specific variants
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|a STAT3 GOF syndrome
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|a Transgenic mouse model
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| 650 |
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|a STAT3 Transcription Factor
|2 NLM
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| 650 |
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|a STAT3 protein, human
|2 NLM
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| 650 |
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|a Stat3 protein, mouse
|2 NLM
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| 700 |
1 |
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|a Zhou, Zijun
|e verfasserin
|4 aut
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| 700 |
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|a Kaikaew, Kasiphak
|e verfasserin
|4 aut
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| 700 |
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|a Phakham, Suphattra
|e verfasserin
|4 aut
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| 700 |
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|a van der Spek, Peter J
|e verfasserin
|4 aut
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|a Swagemakers, Sigrid
|e verfasserin
|4 aut
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|a Venter, Deon J
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|4 aut
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|a de Bie, Maaike
|e verfasserin
|4 aut
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|a Schrijver, Benjamin
|e verfasserin
|4 aut
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|a Schliehe, Christopher
|e verfasserin
|4 aut
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| 700 |
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|a Kaiser, Fabian
|e verfasserin
|4 aut
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| 700 |
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|a Dalm, Virgil A S H
|e verfasserin
|4 aut
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| 700 |
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|a van Hagen, P Martin
|e verfasserin
|4 aut
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| 700 |
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|a Hirankarn, Nattiya
|e verfasserin
|4 aut
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|a IJspeert, Hanna
|e verfasserin
|4 aut
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| 700 |
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|a Dik, Willem A
|e verfasserin
|4 aut
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| 773 |
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|i Enthalten in
|t Clinical immunology (Orlando, Fla.)
|d 1999
|g 266(2024) vom: 25. Sept., Seite 110312
|w (DE-627)NLM098196855
|x 1521-7035
|7 nnns
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| 773 |
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|g volume:266
|g year:2024
|g day:25
|g month:09
|g pages:110312
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|u http://dx.doi.org/10.1016/j.clim.2024.110312
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