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Significant association of RNF213 p.R4810K, a moyamoya susceptibility variant, with coronary artery disease.PLoS One. 2017 Apr 17;12(4):e0175649. doi: 10.1371/journal.pone.0175649. eCollection 2017.
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Rare variants in RNF213, a susceptibility gene for moyamoya disease, are found in patients with pulmonary hypertension and aggravate hypoxia-induced pulmonary hypertension in mice.Pulm Circ. 2018 Jul-Sep;8(3):2045894018778155. doi: 10.1177/2045894018778155. Epub 2018 May 2.
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Human amyloid- enriched extracts: evaluation of in vitro and in vivo internalization and molecular characterization.Alzheimers Res Ther. 2019 Jun 29;11(1):56. doi: 10.1186/s13195-019-0513-0.
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Identification of novel fusion partners of ALK, the anaplastic lymphoma kinase, in anaplastic large-cell lymphoma and inflammatory myofibroblastic tumor.Genes Chromosomes Cancer. 2002 Aug;34(4):354-62. doi: 10.1002/gcc.10033.
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The Clinical and Vascular Characteristics of RNF213 c.14576G>A Variant-Related Intracranial Major Artery Disease in China.Behav Neurol. 2019 Mar 12;2019:7908392. doi: 10.1155/2019/7908392. eCollection 2019.
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Development of atherosclerotic-moyamoya syndrome with genetic variant of RNF213 p.R4810K and p.T1727M: A case report.Clin Neurol Neurosurg. 2018 May;168:163-166. doi: 10.1016/j.clineuro.2018.01.034. Epub 2018 Feb 2.
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RNF213-related susceptibility of Japanese CADASIL patients to intracranial arterial stenosis.J Hum Genet. 2018 May;63(5):687-690. doi: 10.1038/s10038-018-0428-9. Epub 2018 Mar 2.
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Transient Global Cerebral Ischemia Induces RNF213, a Moyamoya Disease Susceptibility Gene, in Vulnerable Neurons of the Rat Hippocampus CA1 Subregion and Ischemic Cortex.J Stroke Cerebrovasc Dis. 2017 Sep;26(9):1904-1911. doi: 10.1016/j.jstrokecerebrovasdis.2017.06.032. Epub 2017 Jul 19.
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Posterior circulation involvement and collateral flow pattern in moyamoya disease with the RNF213 polymorphism.Childs Nerv Syst. 2019 Feb;35(2):309-314. doi: 10.1007/s00381-018-3985-5. Epub 2018 Oct 3.
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Depression and Catatonia: A Case of Neuropsychiatric Complications of Moyamoya Disease.Cureus. 2018 Oct 16;10(10):e3460. doi: 10.7759/cureus.3460.
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Differing disease phenotypes of Duchenne muscular dystrophy and Moyamoya disease in female siblings of a Korean family.Mol Genet Genomic Med. 2019 Sep;7(9):e862. doi: 10.1002/mgg3.862. Epub 2019 Jul 25.
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A Polymorphism in RNF213 Is a Susceptibility Gene for Intracranial Atherosclerosis.PLoS One. 2016 Jun 2;11(6):e0156607. doi: 10.1371/journal.pone.0156607. eCollection 2016.
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RNF213 variants in a child with PHACE syndrome and moyamoya vasculopathy.Am J Med Genet A. 2017 Sep;173(9):2557-2561. doi: 10.1002/ajmg.a.38258. Epub 2017 Jul 7.
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Rare and Low-Frequency Variants in RNF213 Confer Susceptibility to Moyamoya Syndrome Associated with Hyperthyroidism.World Neurosurg. 2019 Jul;127:e460-e466. doi: 10.1016/j.wneu.2019.03.172. Epub 2019 Mar 25.
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The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
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PTP1B controls non-mitochondrial oxygen consumption by regulating RNF213 to promote tumour survival during hypoxia.Nat Cell Biol. 2016 Jul;18(7):803-813. doi: 10.1038/ncb3376. Epub 2016 Jun 20.
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Poor outcomes in carriers of the RNF213 variant (p.Arg4810Lys) with pulmonary arterial hypertension.J Heart Lung Transplant. 2020 Feb;39(2):103-112. doi: 10.1016/j.healun.2019.08.022. Epub 2019 Sep 2.
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Prevalence of RNF213 p.R4810K Variant in Early-Onset Stroke With Intracranial Arterial Stenosis.Stroke. 2019 Jun;50(6):1561-1563. doi: 10.1161/STROKEAHA.118.024712. Epub 2019 May 7.
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S-nitrosylation of E3 ubiquitin-protein ligase RNF213 alters non-canonical Wnt/Ca+2 signaling in the P301S mouse model of tauopathy.Transl Psychiatry. 2019 Jan 29;9(1):44. doi: 10.1038/s41398-019-0388-7.
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Association between moyamoya syndrome and the RNF213 c.14576G>A variant in patients with neurofibromatosis Type 1.J Neurosurg Pediatr. 2016 Jun;17(6):717-22. doi: 10.3171/2015.10.PEDS15537. Epub 2016 Feb 5.
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Detection and interpretation of shared genetic influences on 42 human traits.Nat Genet. 2016 Jul;48(7):709-17. doi: 10.1038/ng.3570. Epub 2016 May 16.
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Adult Moyamoya Disease: A Burden of Intracranial Stenosis in East Asians?.PLoS One. 2015 Jun 30;10(6):e0130663. doi: 10.1371/journal.pone.0130663. eCollection 2015.
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Integrative omics data analyses of repeated dose toxicity of valproic acid in vitro reveal new mechanisms of steatosis induction. Toxicology. 2018 Jan 15;393:160-170.
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Development of a neural teratogenicity test based on human embryonic stem cells: response to retinoic acid exposure. Toxicol Sci. 2011 Dec;124(2):370-7.
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Gene expression analysis of precision-cut human liver slices indicates stable expression of ADME-Tox related genes. Toxicol Appl Pharmacol. 2011 May 15;253(1):57-69.
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Bringing in vitro analysis closer to in vivo: studying doxorubicin toxicity and associated mechanisms in 3D human microtissues with PBPK-based dose modelling. Toxicol Lett. 2018 Sep 15;294:184-192.
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Physiological and toxicological transcriptome changes in HepG2 cells exposed to copper. Physiol Genomics. 2009 Aug 7;38(3):386-401.
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Quantitative proteomics reveals a broad-spectrum antiviral property of ivermectin, benefiting for COVID-19 treatment. J Cell Physiol. 2021 Apr;236(4):2959-2975. doi: 10.1002/jcp.30055. Epub 2020 Sep 22.
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Prenatal arsenic exposure and the epigenome: identifying sites of 5-methylcytosine alterations that predict functional changes in gene expression in newborn cord blood and subsequent birth outcomes. Toxicol Sci. 2015 Jan;143(1):97-106. doi: 10.1093/toxsci/kfu210. Epub 2014 Oct 10.
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Comparison of phenotypic and transcriptomic effects of false-positive genotoxins, true genotoxins and non-genotoxins using HepG2 cells. Mutagenesis. 2011 Sep;26(5):593-604.
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THC exposure of human iPSC neurons impacts genes associated with neuropsychiatric disorders. Transl Psychiatry. 2018 Apr 25;8(1):89. doi: 10.1038/s41398-018-0137-3.
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Ethyl carbamate induces cell death through its effects on multiple metabolic pathways. Chem Biol Interact. 2017 Nov 1;277:21-32.
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Definition of transcriptome-based indices for quantitative characterization of chemically disturbed stem cell development: introduction of the STOP-Toxukn and STOP-Toxukk tests. Arch Toxicol. 2017 Feb;91(2):839-864.
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Epigallocatechin-3-gallate (EGCG) protects against chromate-induced toxicity in vitro. Toxicol Appl Pharmacol. 2012 Jan 15;258(2):166-75.
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Bromodomain-containing protein 4 (BRD4) regulates RNA polymerase II serine 2 phosphorylation in human CD4+ T cells. J Biol Chem. 2012 Dec 14;287(51):43137-55.
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Cell-based two-dimensional morphological assessment system to predict cancer drug-induced cardiotoxicity using human induced pluripotent stem cell-derived cardiomyocytes. Toxicol Appl Pharmacol. 2019 Nov 15;383:114761. doi: 10.1016/j.taap.2019.114761. Epub 2019 Sep 15.
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Quantitative phosphoproteomics reveal cellular responses from caffeine, coumarin and quercetin in treated HepG2 cells. Toxicol Appl Pharmacol. 2022 Aug 15;449:116110. doi: 10.1016/j.taap.2022.116110. Epub 2022 Jun 7.
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Bisphenol A induces DSB-ATM-p53 signaling leading to cell cycle arrest, senescence, autophagy, stress response, and estrogen release in human fetal lung fibroblasts. Arch Toxicol. 2018 Apr;92(4):1453-1469.
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Characterization of formaldehyde's genotoxic mode of action by gene expression analysis in TK6 cells. Arch Toxicol. 2013 Nov;87(11):1999-2012.
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