Varaico: Literature-Extracted Genetic Variants

Gene:STING1
Variant:p.V155M
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STING1

NM_198282.4:p.V155M

Associated Papers

An additional site mutation in MITA/STING gain-of-function mutants abolishes the autoimmune SAVI phenotypes and directs a therapeutic strategy.

Li FX et al.

Cell Insight, 2026

A Novel Heterozygous STING1 Point Mutation Causes Pulmonary Arterial Hypertension in Children: A Case Report.

Chen L et al.

Pediatric Pulmonology, 2026

Identification of a Novel Heterozygous Variant c.497g>a (p.gly166glu) in Exon 5 of the Sting1 Gene as the Causative Factor of Sting-Associated Vasculopathy With Onset in Infancy (SAVI): A Case Report.

Mansilla-Polo M et al.

Actas Dermo-sifiliograficas, 2025

STING: a multifaced player in cellular homeostasis.

Song K et al.

Human Molecular Genetics, 2025

STING COPII ER Export Trafficking and Signaling Primed by Phosphorylation Switches.

Nan Y et al.

Advanced Science (weinheim, Baden-wurttemberg, Germany), 2025

Lymphopenia drives T cell exhaustion in immunodeficient STING gain-of-function mice.

Freytag D et al.

Embo Molecular Medicine, 2025

Interferons in human inborn errors of disease.

Stine L et al.

Mbio, 2025

Severe interstitial lung disease as the first manifestation of a STING1 variant in a familial case.

Kang Z et al.

Immunologic Research, 2025

A novel STING1-activating mutation is identified in a patient with childhood-onset systemic lupus erythematosus.

Li T et al.

Clinical Immunology (orlando, Fla.), 2025

The pathogenesis, clinical presentations and treatment of monogenic systemic vasculitis.

Gül A et al.

Nature Reviews. Rheumatology, 2025

Cell biological insights into human STING variants.

Koide S et al.

Cell Structure and Function, 2025

ArfGAP2 promotes STING proton channel activity, cytokine transit, and autoinflammation.

Poddar S et al.

Cell, 2025

A Novel Treatment of STING-Associated Vasculopathy With Onset in Infancy.

Solarska-Rydz K et al.

Pediatric Pulmonology, 2025

Mosaic TMEM173 gene mutation R284S leading to STING-associated vasculopathy with onset in infancy (SAVI).

Yang Z et al.

International Journal of Dermatology, 2025

Emerging concepts and treatments in autoinflammatory interferonopathies and monogenic systemic lupus erythematosus.

Goldbach-Mansky R et al.

Nature Reviews. Rheumatology, 2025

Response to two Janus kinase inhibitors in a boy with SAVI during 2-year follow-up: case report and literature review.

Chen Y et al.

Frontiers in Immunology, 2025

Nanomedicines harnessing cGAS-STING pathway: sparking immune revitalization to transform 'cold' tumors into 'hot' tumors.

Ying X et al.

Molecular Cancer, 2024

Classification and functional characterization of regulators of intracellular STING trafficking identified by genome-wide optical pooled screening.

Gentili M et al.

Cell Systems, 2024

ZC3HAV1 facilitates STING activation and enhances inflammation.

Qin D et al.

Communications Biology, 2024

Normalized Interferon Signatures and Clinical Improvements by IFNAR1 Blocking Antibody (Anifrolumab) in Patients with Type I Interferonopathies.

Kretzschmar G et al.

Journal of Clinical Immunology, 2024

Advances in the prerequisite and consequence of STING downstream signalosomes.

Lu X et al.

Medical Review (2021), 2024

The common Sting1 HAQ, AQ alleles rescue CD4 T cellpenia, restore T-regs, and prevent SAVI (N153S) inflammatory disease in mice.

Aybar-Torres AA et al.

Elife, 2024

A novel STING variant triggers endothelial toxicity and SAVI disease.

Valeri E et al.

The Journal of Experimental Medicine, 2024

Inheritance of STING mosaicism in two half-siblings.

de Becdelièvre A et al.

Journal of Clinical Immunology, 2024

The common TMEM173 HAQ, AQ alleles rescue CD4 T cellpenia, restore T-regs, and prevent SAVI (N153S) inflammatory disease in mice.

Aybar-Torres A et al.

Biorxiv : the Preprint Server for Biology, 2024

Small molecule induced STING degradation facilitated by the HECT ligase HERC4.

Mutlu M et al.

Nature Communications, 2024

Structural Evaluations of a Selective Human STINGA230 Agonist and Its Use in Macrophage Immunotherapies.

Tang Z et al.

Acs Medicinal Chemistry Letters, 2024

Classification and functional characterization of regulators of intracellular STING trafficking identified by genome-wide optical pooled screening.

Gentili M et al.

Biorxiv : the Preprint Server for Biology, 2024

STING signaling in the brain: Molecular threats, signaling activities, and therapeutic challenges.

Yang K et al.

Neuron, 2024

Heterozygous mutations in the C-terminal domain of COPA underlie a complex autoinflammatory syndrome.

Delafontaine S et al.

The Journal of Clinical Investigation, 2024

Single-cell RNA-sequencing of PBMCs from SAVI patients reveals disease-associated monocytes with elevated integrated stress response.

de Cevins C et al.

Cell Reports. Medicine, 2023

Membrane traffic governs the STING inflammatory signalling.

Taguchi T

Journal of Biochemistry, 2023

Regulation of STING activity in DNA sensing by ISG15 modification.

Lin C et al.

Cell Reports, 2023

The common H232 STING allele shows impaired activities in DNA sensing, susceptibility to viral infection, and in monocyte cell function, while the HAQ variant possesses wild-type properties.

Froechlich G et al.

Scientific Reports, 2023

ARF1 prevents aberrant type I interferon induction by regulating STING activation and recycling.

Hirschenberger M et al.

Nature Communications, 2023

Case report: JAK1/2 inhibition with baricitinib in the treatment of STING-associated vasculopathy with onset in infancy.

Wu J et al.

Pediatric Rheumatology Online Journal, 2023

Monogenic lupus: Tracing the therapeutic implications from single gene mutations.

Jia X et al.

Clinical Immunology (orlando, Fla.), 2023

Treatment of STING-associated vasculopathy with onset in infancy in patients carrying a novel mutation in the TMEM173 gene with the JAK3-inhibitor tofacitinib.

Tokgun PE et al.

Archives of Rheumatology, 2023

Regulation of cGAS and STING signaling during inflammation and infection.

Chauvin SD et al.

The Journal of Biological Chemistry, 2023

Termination of STING responses is mediated via ESCRT-dependent degradation.

Balka KR et al.

The Embo Journal, 2023

37139896 (PubMed )
Supplement: EMBJ-42-e112712-s016.pdf

STING trafficking as a new dimension of immune signaling.

Jeltema D et al.

The Journal of Experimental Medicine, 2023

ESCRT-dependent STING degradation inhibits steady-state and cGAMP-induced signalling.

Gentili M et al.

Nature Communications, 2023

Current understanding of the cGAS-STING signaling pathway: Structure, regulatory mechanisms, and related diseases.

Pan J et al.

Zoological Research, 2023

Vasculitis and vasculopathy associated with inborn errors of immunity: an overview.

Federici S et al.

Frontiers in Pediatrics, 2023

Multifaceted functions of STING in human health and disease: from molecular mechanism to targeted strategy.

Zhang Z et al.

Signal Transduction and Targeted Therapy, 2022

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