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De Novo Mutations Promote Inflammation in Children with Stat3 Gain-of-Functionsyndrome by Affecting Il-1β Expression

https://doi.org/10.2139/ssrn.4776231
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ggplot2
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De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome
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Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome
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De novo mutations of SETBP1 cause Schinzel-Giedion syndrome
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Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome
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De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome
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Differential expression analysis for sequence count data
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De novo mutations in human genetic disease
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Graph-based genome alignment and genotyping with HISAT2 and HISAT-genotype
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STAT3 Signaling and the Hyper-IgE Syndrome
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JAKs and STATs in Immunity, Immunodeficiency, and Cancer
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STAT1 and STAT3 mutations: important lessons for clinical immunologists
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The Sequence Alignment/Map format and SAMtools
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HTSeq—a Python framework to work with high-throughput sequencing data
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fastp: an ultra-fast all-in-one FASTQ preprocessor
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KEGG: Kyoto Encyclopedia of Genes and Genomes
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miRBase: microRNA sequences, targets and gene nomenclature
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The microRNA.org resource: targets and expression
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The Gene Ontology Resource: 20 years and still GOing strong
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ClinVar: improvements to accessing data
inferredcites →https://doi.org/10.1093/rheumatology/key308openalex-extracted
STAT3 gain of function: a new aetiology of severe rheumatic disease
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Cytoscape: A Software Environment for Integrated Models of Biomolecular Interaction Networks
inferredcites →https://doi.org/10.1126/scitranslmed.ade7028openalex-extracted
Dysregulated IFN-γ signals promote autoimmunity in STAT1 gain-of-function syndrome
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Central Role of the Threonine Residue within the p+1 Loop of Receptor Tyrosine Kinase in STAT3 Constitutive Phosphorylation in Metastatic Cancer Cells
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Regulation of mRNA Translation and Stability by microRNAs
inferredcites →https://doi.org/10.1146/annurev-med-051010-162644openalex-extracted
Human Genome Sequencing in Health and Disease
inferredcites →https://doi.org/10.1172/jci.insight.162695openalex-extracted
A human STAT3 gain-of-function variant confers T cell dysregulation without predominant Treg dysfunction in mice
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inferredcites →https://doi.org/10.1182/blood-2014-04-570101openalex-extracted
Autoimmunity, hypogammaglobulinemia, lymphoproliferation, and mycobacterial disease in patients with activating mutations in STAT3
inferredcites →https://doi.org/10.1182/blood-2014-09-602763openalex-extracted
Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations
inferredcites →https://doi.org/10.1186/1471-2105-9-559openalex-extracted
WGCNA: an R package for weighted correlation network analysis
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MicroRNA targets in Drosophila
inferredcites →https://doi.org/10.1186/gb-2009-10-3-r25openalex-extracted
Ultrafast and memory-efficient alignment of short DNA sequences to the human genome
inferredcites →https://doi.org/10.1186/gb-2010-11-10-r106openalex-extracted
Differential expression analysis for sequence count data
inferredcites →https://doi.org/10.1186/gb-2010-11-8-r90openalex-extracted
Comprehensive modeling of microRNA targets predicts functional non-conserved and non-canonical sites
inferredcites →https://doi.org/10.1186/s12864-018-4491-6openalex-extracted
Systematic comparison of small RNA library preparation protocols for next-generation sequencing
inferredcites →https://doi.org/10.1186/s12943-020-01258-7openalex-extracted
Targeting STAT3 in Cancer Immunotherapy
inferredcites →https://doi.org/10.1186/s13059-014-0550-8openalex-extracted
Moderated estimation of fold change and dispersion for RNA-seq data with DESeq2
inferredcites →https://doi.org/10.1186/s13059-016-0881-8openalex-extracted
A survey of best practices for RNA-seq data analysis
inferredcites →https://doi.org/10.1371/journal.pone.0184129openalex-extracted
Prediction and analysis of essential genes using the enrichments of gene ontology and KEGG pathways
inferredcites →https://doi.org/10.3389/fimmu.2018.00168openalex-extracted
Signal Transducer and Activator of Transcription 3 Control of Human T and B Cell Responses
inferredcites →https://doi.org/10.3389/fimmu.2021.632997openalex-extracted
Transcriptional Profiling of STAT1 Gain-of-Function Reveals Common and Mutation-Specific Fingerprints
inferredcites →https://doi.org/10.3389/fimmu.2022.928213openalex-extracted
Case report: A STAT1 gain-of-function mutation causes a syndrome of combined immunodeficiency, autoimmunity and pure red cell aplasia
inferredcites →https://doi.org/10.3389/fped.2022.770077openalex-extracted
STAT3 gain-of-function syndrome
inferredcites →https://doi.org/10.3389/fphar.2022.931282openalex-extracted
Identification and validation of key biomarkers for the early diagnosis of diabetic kidney disease
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Regulatory Mechanism of MicroRNA Expression in Cancer
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