Research graph
References from VARS2 deficiency drives seronegative myasthenia gravis pathology via mitochondrial, immune, and neuromuscular dysregulation. Local targets link to admitted publications; unresolved targets remain external evidence.
Myasthenia gravis
10.1056/nejmra1602678 · 2016 · External reference
Myasthenia gravis: subgroup classification and therapeutic strategies
10.1016/s1474-4422(15)00145-3 · 2015 · External reference
Diagnosis and management of seronegative myasthenia gravis: lights and shadows
10.3390/brainsci13091286 · 2023 · External reference
275th ENMC international workshop: seronegative myasthenia gravis: an update paradigm for diagnosis and management, 9–11 February 2024, Hoofddorp, the Netherlands
10.1016/j.nmd.2024.104468 · 2024 · External reference
Roles of cytokines and T cells in the pathogenesis of myasthenia gravis
10.1111/cei.13546 · 2021 · External reference
Clinical implication of peripheral CD4+CD25+ regulatory T cells and Th17 cells in myasthenia gravis patients
10.1016/j.jneuroim.2010.03.016 · 2010 · External reference
Elevated plasma interleukin-17A in a subgroup of myasthenia gravis patients
10.1016/j.cyto.2015.06.011 · 2016 · External reference
CD4+ T cells of myasthenia gravis patients are characterized by increased IL-21, IL-4, and IL-17A productions and higher presence of PD-1 and ICOS
10.3389/fimmu.2020.00809 · 2020 · External reference
Mitochondrial control for healthy and autoimmune T cells
10.3390/cells12131800 · 2023 · External reference
Mitochondria in innate immunity signaling and its therapeutic implications in autoimmune diseases
10.3389/fimmu.2023.1160035 · 2023 · External reference
Mitochondrial oxidative phosphorylation regulates the fate decision between pathogenic Th17 and regulatory T cells
10.1016/j.celrep.2020.01.022 · 2020 · External reference
Recent advances in mitochondrial aminoacyl-tRNA synthetases and disease
10.1016/j.molmed.2017.06.002 · 2017 · External reference
Mitochondrial aminoacyl-tRNA synthetases in human disease
10.1016/j.ymgme.2013.01.010 · 2013 · External reference
VARS2 depletion leads to activation of the integrated stress response and disruptions in mitochondrial fatty acid oxidation
10.3390/ijms23137327 · 2022 · External reference
Clinical, biochemical, and genetic features associated with VARS2-related mitochondrial disease
10.1002/humu.23398 · 2018 · External reference
Roles of aminoacyl-tRNA synthetases in immune regulation and immune diseases
10.1038/s41419-019-2145-5 · 2019 · External reference
Human aminoacyl-tRNA synthetases in diseases of the nervous system
10.1080/15476286.2017.1330245 · 2018 · External reference
B-cell immune dysregulation with low soluble CD22 levels in refractory seronegative myasthenia gravis
10.3389/fimmu.2024.1382320 · 2024 · External reference
IgG1 antibodies to acetylcholine receptors in ‘seronegative’ myasthenia gravis
10.1093/brain/awn092 · 2008 · External reference
Differentially expressed genes reflect disease-induced rather than disease-causing changes in the transcriptome
10.1038/s41467-021-25805-y · 2021 · External reference
Single-cell eQTL models reveal dynamic T cell state dependence of disease loci
10.1038/s41586-022-04713-1 · 2022 · External reference
Inflammation and autoimmune myasthenia gravis
10.3389/fimmu.2023.1110499 · 2023 · External reference
The balance of Th17 versus Treg cells in autoimmunity
10.3390/ijms19030730 · 2018 · External reference
Imbalance of circulating CD4+CXCR5+FOXP3+ Tfr-like cells and CD4+CXCR5+FOXP3-2011; Tfh-like cells in myasthenia gravis
10.1016/j.neulet.2016.07.049 · 2016 · External reference
Immune skew of circulating follicular helper T cells associates with myasthenia gravis severity
10.1212/nxi.0000000000000945 · 2021 · External reference
Immunoregulatory cells in myasthenia gravis
10.3389/fneur.2020.593431 · 2020 · External reference
The alterations in and the role of the Th17/Treg balance in metabolic diseases
10.3389/fimmu.2021.678355 · 2021 · External reference
Disease models of mitochondrial aminoacyl-tRNA synthetase defects
10.1002/jimd.12652 · 2023 · External reference
The role of innate immunity in myasthenia gravis
10.1016/j.autrev.2021.102800 · 2021 · External reference
Control of TH17/Treg balance by hypoxia-inducible factor 1
10.1016/j.cell.2011.07.033 · 2011 · External reference
Central role of macrophages and nucleic acid release in myasthenia gravis thymus
10.1002/ana.26590 · 2023 · External reference
Single-cell mass cytometry on peripheral cells in myasthenia gravis identifies dysregulation of innate immune cells
10.3389/fimmu.2023.1083218 · 2023 · External reference
The chemokine CXCL13 is a key molecule in autoimmune myasthenia gravis
10.1182/blood-2005-06-2383 · 2006 · External reference
Ectopic and high CXCL13 chemokine expression in myasthenia gravis with thymic lymphoid hyperplasia
10.1016/j.jneuroim.2010.02.013 · 2010 · External reference
Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression
10.1038/s41588-021-00913-z · 2021 · External reference
The GTEx Consortium atlas of genetic regulatory effects across human tissues
10.1126/science.aaz1776 · 2020 · External reference
Identification of genetic risk loci and prioritization of genes and pathways for myasthenia gravis: a genome-wide association study
10.1073/pnas.2108672119 · 2022 · External reference
FinnGen provides genetic insights from a well-phenotyped isolated population
10.1038/s41586-022-05473-8 · 2023 · External reference
METAL: fast and efficient meta-analysis of genomewide association scans
10.1093/bioinformatics/btq340 · 2010 · External reference
Integration of summary data from GWAS and eQTL studies predicts complex trait gene targets
10.1038/ng.3538 · 2016 · External reference
Therapeutic targets for inflammatory bowel disease: proteome-wide Mendelian randomization and colocalization analyses
10.1016/j.ebiom.2023.104494 · 2023 · External reference
A more accurate method for colocalisation analysis allowing for multiple causal variants
10.1371/journal.pgen.1009440 · 2021 · External reference
Investigation of the acute pathogenesis of spondyloarthritis/HLA-B27-associated anterior uveitis based on genome-wide association analysis and single-cell transcriptomics
10.1186/s12967-024-05077-y · 2024 · External reference
Dictionary learning for integrative, multimodal and scalable single-cell analysis
10.1038/s41587-023-01767-y · 2024 · External reference
Fully-automated and ultra-fast cell-type identification using specific marker combinations from single-cell transcriptomic data
10.1038/s41467-022-28803-w · 2022 · External reference
Comparative transcriptomics revealed neurodevelopmental impairments and ferroptosis induced by extremely small iron oxide nanoparticles
10.3389/fgene.2024.1402771 · 2024 · External reference
Lipin 1 deficiency causes adult-onset myasthenia with motor neuron dysfunction in humans and neuromuscular junction defects in zebrafish
10.7150/thno.53330 · 2021 · External reference
Bacterial quorum-sensing signal DSF inhibits LPS-induced inflammations by suppressing toll-like receptor signaling and preventing lysosome-mediated apoptosis in zebrafish
10.3390/ijms23137110 · 2022 · External reference
Chsy1 deficiency reduces extracellular matrix productions and aggravates cartilage injury in osteoarthritis
10.1016/j.gene.2022.146466 · 2022 · External reference
Central role of macrophages and nucleic acid release in myasthenia gravis thymus
10.1002/ana.26590 · ExternalCitation · doi-reference
Clinical, biochemical, and genetic features associated with VARS2-related mitochondrial disease
10.1002/humu.23398 · ExternalCitation · doi-reference
Disease models of mitochondrial aminoacyl-tRNA synthetase defects
10.1002/jimd.12652 · ExternalCitation · doi-reference
The role of innate immunity in myasthenia gravis
10.1016/j.autrev.2021.102800 · ExternalCitation · doi-reference
Control of TH17/Treg balance by hypoxia-inducible factor 1
10.1016/j.cell.2011.07.033 · ExternalCitation · doi-reference
Mitochondrial oxidative phosphorylation regulates the fate decision between pathogenic Th17 and regulatory T cells
10.1016/j.celrep.2020.01.022 · ExternalCitation · doi-reference
Elevated plasma interleukin-17A in a subgroup of myasthenia gravis patients
10.1016/j.cyto.2015.06.011 · ExternalCitation · doi-reference
Therapeutic targets for inflammatory bowel disease: proteome-wide Mendelian randomization and colocalization analyses
10.1016/j.ebiom.2023.104494 · ExternalCitation · doi-reference
Chsy1 deficiency reduces extracellular matrix productions and aggravates cartilage injury in osteoarthritis
10.1016/j.gene.2022.146466 · ExternalCitation · doi-reference
Ectopic and high CXCL13 chemokine expression in myasthenia gravis with thymic lymphoid hyperplasia
10.1016/j.jneuroim.2010.02.013 · ExternalCitation · doi-reference
Clinical implication of peripheral CD4+CD25+ regulatory T cells and Th17 cells in myasthenia gravis patients
10.1016/j.jneuroim.2010.03.016 · ExternalCitation · doi-reference
Recent advances in mitochondrial aminoacyl-tRNA synthetases and disease
10.1016/j.molmed.2017.06.002 · ExternalCitation · doi-reference
Imbalance of circulating CD4+CXCR5+FOXP3+ Tfr-like cells and CD4+CXCR5+FOXP3-2011; Tfh-like cells in myasthenia gravis
10.1016/j.neulet.2016.07.049 · ExternalCitation · doi-reference
275th ENMC international workshop: seronegative myasthenia gravis: an update paradigm for diagnosis and management, 9–11 February 2024, Hoofddorp, the Netherlands
10.1016/j.nmd.2024.104468 · ExternalCitation · doi-reference
Mitochondrial aminoacyl-tRNA synthetases in human disease
10.1016/j.ymgme.2013.01.010 · ExternalCitation · doi-reference
Myasthenia gravis: subgroup classification and therapeutic strategies
10.1016/s1474-4422(15)00145-3 · ExternalCitation · doi-reference
Integration of summary data from GWAS and eQTL studies predicts complex trait gene targets
10.1038/ng.3538 · ExternalCitation · doi-reference
Roles of aminoacyl-tRNA synthetases in immune regulation and immune diseases
10.1038/s41419-019-2145-5 · ExternalCitation · doi-reference
Differentially expressed genes reflect disease-induced rather than disease-causing changes in the transcriptome
10.1038/s41467-021-25805-y · ExternalCitation · doi-reference
Fully-automated and ultra-fast cell-type identification using specific marker combinations from single-cell transcriptomic data
10.1038/s41467-022-28803-w · ExternalCitation · doi-reference
Single-cell eQTL models reveal dynamic T cell state dependence of disease loci
10.1038/s41586-022-04713-1 · ExternalCitation · doi-reference
FinnGen provides genetic insights from a well-phenotyped isolated population
10.1038/s41586-022-05473-8 · ExternalCitation · doi-reference
Dictionary learning for integrative, multimodal and scalable single-cell analysis
10.1038/s41587-023-01767-y · ExternalCitation · doi-reference
Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression
10.1038/s41588-021-00913-z · ExternalCitation · doi-reference
Myasthenia gravis
10.1056/nejmra1602678 · ExternalCitation · doi-reference
Identification of genetic risk loci and prioritization of genes and pathways for myasthenia gravis: a genome-wide association study
10.1073/pnas.2108672119 · ExternalCitation · doi-reference
Human aminoacyl-tRNA synthetases in diseases of the nervous system
10.1080/15476286.2017.1330245 · ExternalCitation · doi-reference
METAL: fast and efficient meta-analysis of genomewide association scans
10.1093/bioinformatics/btq340 · ExternalCitation · doi-reference
IgG1 antibodies to acetylcholine receptors in ‘seronegative’ myasthenia gravis
10.1093/brain/awn092 · ExternalCitation · doi-reference
Roles of cytokines and T cells in the pathogenesis of myasthenia gravis
10.1111/cei.13546 · ExternalCitation · doi-reference
The GTEx Consortium atlas of genetic regulatory effects across human tissues
10.1126/science.aaz1776 · ExternalCitation · doi-reference
The chemokine CXCL13 is a key molecule in autoimmune myasthenia gravis
10.1182/blood-2005-06-2383 · ExternalCitation · doi-reference
Investigation of the acute pathogenesis of spondyloarthritis/HLA-B27-associated anterior uveitis based on genome-wide association analysis and single-cell transcriptomics
10.1186/s12967-024-05077-y · ExternalCitation · doi-reference
Immune skew of circulating follicular helper T cells associates with myasthenia gravis severity
10.1212/nxi.0000000000000945 · ExternalCitation · doi-reference
A more accurate method for colocalisation analysis allowing for multiple causal variants
10.1371/journal.pgen.1009440 · ExternalCitation · doi-reference
Comparative transcriptomics revealed neurodevelopmental impairments and ferroptosis induced by extremely small iron oxide nanoparticles
10.3389/fgene.2024.1402771 · ExternalCitation · doi-reference
CD4+ T cells of myasthenia gravis patients are characterized by increased IL-21, IL-4, and IL-17A productions and higher presence of PD-1 and ICOS
10.3389/fimmu.2020.00809 · ExternalCitation · doi-reference
The alterations in and the role of the Th17/Treg balance in metabolic diseases
10.3389/fimmu.2021.678355 · ExternalCitation · doi-reference
Single-cell mass cytometry on peripheral cells in myasthenia gravis identifies dysregulation of innate immune cells
10.3389/fimmu.2023.1083218 · ExternalCitation · doi-reference
Inflammation and autoimmune myasthenia gravis
10.3389/fimmu.2023.1110499 · ExternalCitation · doi-reference
Mitochondria in innate immunity signaling and its therapeutic implications in autoimmune diseases
10.3389/fimmu.2023.1160035 · ExternalCitation · doi-reference
B-cell immune dysregulation with low soluble CD22 levels in refractory seronegative myasthenia gravis
10.3389/fimmu.2024.1382320 · ExternalCitation · doi-reference
Immunoregulatory cells in myasthenia gravis
10.3389/fneur.2020.593431 · ExternalCitation · doi-reference
Diagnosis and management of seronegative myasthenia gravis: lights and shadows
10.3390/brainsci13091286 · ExternalCitation · doi-reference
Mitochondrial control for healthy and autoimmune T cells
10.3390/cells12131800 · ExternalCitation · doi-reference
The balance of Th17 versus Treg cells in autoimmunity
10.3390/ijms19030730 · ExternalCitation · doi-reference
Bacterial quorum-sensing signal DSF inhibits LPS-induced inflammations by suppressing toll-like receptor signaling and preventing lysosome-mediated apoptosis in zebrafish
10.3390/ijms23137110 · ExternalCitation · doi-reference
VARS2 depletion leads to activation of the integrated stress response and disruptions in mitochondrial fatty acid oxidation
10.3390/ijms23137327 · ExternalCitation · doi-reference
Lipin 1 deficiency causes adult-onset myasthenia with motor neuron dysfunction in humans and neuromuscular junction defects in zebrafish
10.7150/thno.53330 · ExternalCitation · doi-reference
