A novel gain-of-function STAT3 variant in infantile-onset diabetes associated with multiorgan autoimmunity
CONCLUSION: In the current study, we describe clinical manifestations and identify a novel STAT3 GOF variant (c.1069G>A) in a Chinese patient. This activating variant impairs insulin expression by increasing transcriptional inhibition of its downstream transcription factor ISL1, which could be involved in the pathogenesis of early-onset diabetes.PMID:38404237 | PMC:PMC10895381 | DOI:10.1002/mgg3.2407
Source: Molecular Medicine - Category: Molecular Biology Authors: Qiaoli Zhou Dandan Chen Jing Yu Bixia Zheng Wei Zhou Zhanjun Jia Aihua Zhang Wei Gu Source Type: research
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