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In this issue of the JCI, Singh et al present a mouse model of a specific BBS subtype with genetic deletion of the Bbs5 gene The model recapitulates many of the clinical features observed in patients living with BBS5 and sheds light on adipocyte biology, as well as the hypothalamic mechanisms driving hunger- and food-seeking behaviors that
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- JCI - Deep immunophenotyping reveals circulating activated lymphocytes . . .
1 Division of Rheumatology and 2 Department of Biomedical Informatics, Center for Health Artificial Intelligence, University of Colorado School of Medicine, Aurora, Colorado, USA 3 Department of Surgery, Brigham and Women’s Hospital and Harvard Medical School, Boston, Massachusetts, USA 4 Department of Biostatistics Informatics, University of Colorado School of Medicine, Aurora
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- JCI - Gene-replacement therapy in neurodevelopmental disorders . . .
In this issue of the JCI, Guo and colleagues from the Gray lab evaluated two promoters, three injection modalities, and various timing strategies for replacement of GAT1 via AAV type 9 in heterozygous and homozygous knockout mouse models Intrathecal administration of vectors containing either promoter at postnatal day 5 achieved high
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- JCI - Endothelial MICU1 protects against vascular inflammation and . . .
View this article via: JCI Insight PubMed Google Scholar Singh R, et al Uncontrolled mitochondrial calcium uptake underlies the pathogenesis of neurodegeneration in MICU1-deficient mice and patients
- JCI - Activating antiviral immune responses potentiates immune . . .
View this article via: JCI CrossRef PubMed Google Scholar Jang HJ, et al A phase II trial of guadecitabine plus atezolizumab in metastatic urothelial carcinoma progressing after initial immune checkpoint inhibitor therapy
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