General Information of Drug Off-Target (DOT) (ID: OT4OVE9O)

DOT Name E3 ubiquitin-protein ligase RNF213 (RNF213)
Synonyms EC 2.3.2.27; EC 3.6.4.-; ALK lymphoma oligomerization partner on chromosome 17; E3 ubiquitin-lipopolysaccharide ligase RNF213; EC 2.3.2.-; Mysterin; RING finger protein 213
Gene Name RNF213
Related Disease
Coronary atherosclerosis ( )
Coronary heart disease ( )
High blood pressure ( )
Alzheimer disease ( )
Anaplastic large cell lymphoma ( )
Arterial disorder ( )
Arteriosclerosis ( )
Atherosclerosis ( )
Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy ( )
Cerebral infarction ( )
Cerebrovascular disease ( )
Childhood acute lymphoblastic leukemia ( )
Depression ( )
Duchenne muscular dystrophy ( )
Familial isolated congenital asplenia ( )
Hemangioma ( )
Hyperthyroidism ( )
Moyamoya disease 2 ( )
Neoplasm ( )
Pulmonary arterial hypertension ( )
Stroke ( )
Tauopathy ( )
Neurofibromatosis type 1 ( )
Migraine disorder ( )
Type-1/2 diabetes ( )
UniProt ID
RN213_HUMAN
EC Number
2.3.2.-; 2.3.2.27; 3.6.4.-
Pfam ID
PF00097 ; PF20173
Sequence
MECPSCQHVSKEETPKFCSQCGERLPPAAPIADSENNNSTMASASEGEMECGQELKEEGG
PCLFPGSDSWQENPEEPCSKASWTVQESKKKKRKKKKKGNKSASSELASLPLSPASPCHL
TLLSNPWPQDTALPHSQAQQSGPTGQPSQPPGTATTPLEGDGLSAPTEVGDSPLQAQALG
EAGVATGSEAQSSPQFQDHTEGEDQDASIPSGGRGLSQEGTGPPTSAGEGHSRTEDAAQE
LLLPESKGGSSEPGTELQTTEQQAGASASMAVDAVAEPANAVKGAGKEMKEKTQRMKQPP
ATTPPFKTHCQEAETKTKDEMAAAEEKVGKNEQGEPEDLKKPEGKNRSAAAVKNEKEQKN
QEADVQEVKASTLSPGGGVTVFFHAIISLHFPFNPDLHKVFIRGGEEFGESKWDSNICEL
HYTRDLGHDRVLVEGIVCISKKHLDKYIPYKYVIYNGESFEYEFIYKHQQKKGEYVNRCL
FIKSSLLGSGDWHQYYDIVYMKPHGRLQKVMNHITDGPRKDLVKGKQIAAALMLDSTFSI
LQTWDTINLNSFFTQFEQFCFVLQQPMIYEGQAQLWTDLQYREKEVKRYLWQHLKKHVVP
LPDGKSTDFLPVDCPVRSKLKTGLIVLFVVEKIELLLEGSLDWLCHLLTSDASSPDEFHR
DLSHILGIPQSWRLYLVNLCQRCMDTRTYTWLGALPVLHCCMELAPRHKDAWRQPEDTWA
ALEGLSFSPFREQMLDTSSLLQFMREKQHLLSIDEPLFRSWFSLLPLSHLVMYMENFIEH
LGRFPAHILDCLSGIYYRLPGLEQVLNTQDVQDVQNVQNILEMLLRLLDTYRDKIPEEAL
SPSYLTVCLKLHEAICSSTKLLKFYELPALSAEIVCRMIRLLSLVDSAGQRDETGNNSVQ
TVFQGTLAATKRWLREVFTKNMLTSSGASFTYVKEIEVWRRLVEIQFPAEHGWKESLLGD
MEWRLTKEEPLSQITAYCNSCWDTKGLEDSVAKTFEKCIIEAVSSACQSQTSILQGFSYS
DLRKFGIVLSAVITKSWPRTADNFNDILKHLLTLADVKHVFRLCGTDEKILANVTEDAKR
LIAVADSVLTKVVGDLLSGTILVGQLELIIKHKNQFLDIWQLREKSLSPQDEQCAVEEAL
DWRREELLLLKKEKRCVDSLLKMCGNVKHLIQVDFGVLAVRHSQDLSSKRLNDTVTVRLS
TSSNSQRATHYHLSSQVQEMAGKIDLLRDSHIFQLFWREAAEPLSEPKEDQEAAELLSEP
EEESERHILELEEVYDYLYQPSYRKFIKLHQDLKSGEVTLAEIDVIFKDFVNKYTDLDSE
LKIMCTVDHQDQRDWIKDRVEQIKEYHHLHQAVHAAKVILQVKESLGLNGDFSVLNTLLN
FTDNFDDFRRETLDQINQELIQAKKLLQDISEARCKGLQALSLRKEFICWVREALGGINE
LKVFVDLASISAGENDIDVDRVACFHDAVQGYASLLFKLDPSVDFSAFMKHLKKLWKALD
KDQYLPRKLCDSARNLEWLKTVNESHGSVERSSLTLATAINQRGIYVIQAPKGGQKISPD
TVLHLILPESPGSHEESREYSLEEVKELLNKLMLMSGKKDRNNTEVERFSEVFCSVQRLS
QAFIDLHSAGNMLFRTWIAMAYCSPKQGVSLQMDFGLDLVTELKEGGDVTELLAALCRQM
EHFLDSWKRFVTQKRMEHFYLNFYTAEQLVYLSTELRKQPPSDAALTMLSFIKSNCTLRD
VLRASVGCGSEAARYRMRRVMEELPLMLLSEFSLVDKLRIIMEQSMRCLPAFLPDCLDLE
TLGHCLAHLAGMGGSPVERCLPRGLQVGQPNLVVCGHSEVLPAALAVYMQTPSQPLPTYD
EVLLCTPATTFEEVALLLRRCLTLGSLGHKVYSLLFADQLSYEVARQAEELFHNLCTQQH
REDYQLVMVCDGDWEHCYLPSAFSQHKVFVTPQAPLEAIQAYLAGHYRVPKQTLSAAAVF
NDRLCVGIVASERAGVGKSLYVKRLHDKMKMQLNVKNVPLKTIRLIDPQVDESRVLGALL
PFLDAQYQKVPVLFHLDVTSSVQTGIWVFLFKLLILQYLMDINGKMWLRNPCHLYIVEIL
ERRTSVPSRSSSALRTRVPQFSFLDIFPKVTCRPPKEVIDMELSALRSDTEPGMDLWEFC
SETFQRPYQYLRRFNQNQDLDTFQYQEGSVEGTPEECLQHFLFHCGVINPSWSELRNFAR
FLNYQLRDCEASLFCNPSFIGDTLRGFKKFVVTFMIFMARDFATPSLHTSDQSPGKHMVT
MDGVREEDLAPFSLRKRWESEPHPYVFFNDDHTTMTFIGFHLQPNINGSVDAISHLTGKV
IKRDVMTRDLYQGLLLQRVPFNVDFDKLPRHKKLERLCLTLGIPQATDPDKTYELTTDNM
LKILAIEMRFRCGIPVIIMGETGCGKTRLIKFLSDLRRGGTNADTIKLVKVHGGTTADMI
YSRVREAENVAFANKDQHQLDTILFFDEANTTEAISCIKEVLCDHMVDGQPLAEDSGLHI
IAACNPYRKHSEEMICRLESAGLGYRVSMEETADRLGSIPLRQLVYRVHALPPSLIPLVW
DFGQLSDVAEKLYIQQIVQRLVESISLDENGTRVITEVLCASQGFMRKTEDECSFVSLRD
VERCVKVFRWFHEHSAMLLAQLNAFLSKSSVSKNHTERDPVLWSLMLAIGVCYHASLEKK
DSYRKAIARFFPKPYDDSRLLLDEITRAQDLFLDGVPLRKTIAKNLALKENVFMMVVCIE
LKIPLFLVGKPGSSKSLAKTIVADAMQGPAAYSDLFRSLKQVHLVSFQCSPHSTPQGIIS
TFRQCARFQQGKDLQQYVSVVVLDEVGLAEDSPKMPLKTLHPLLEDGCIEDDPAPHKKVG
FVGISNWALDPAKMNRGIFVSRGSPNETELIESAKGICSSDILVQDRVQGYFASFAKAYE
TVCKRQDKEFFGLRDYYSLIKMVFAAAKASNRKPSPQDIAQAVLRNFSGKDDIQALDIFL
ANLPEAKCSEEVSPMQLIKQNIFGPSQKVPGGEQEDAESRYLLVLTKNYVALQILQQTFF
EGDQQPEIIFGSGFPKDQEYTQLCRNINRVKICMETGKMVLLLNLQNLYESLYDALNQYY
VHLGGQKYVDLGLGTHRVKCRVHPNFRLIVIEEKDVVYKHFPIPLINRLEKHYLDINTVL
EKWQKSIVEELCAWVEKFINVKAHHFQKRHKYSPSDVFIGYHSDACASVVLQVIERQGPR
ALTEELHQKVSEEAKSILLNCATPDAVVRLSAYSLGGFAAEWLSQEYFHRQRHNSFADFL
QAHLHTADLERHAIFTEITTFSRLLTSHDCEILESEVTGRAPKPTLLWLQQFDTEYSFLK
EVRNCLTNTAKCKILIFQTDFEDGIRSAQLIASAKYSVINEINKIRENEDRIFVYFITKL
SRVGRGTAYVGFHGGLWQSVHIDDLRRSTLMVSDVTRLQHVTISQLFAPGDLPELGLEHR
AEDGHEEAMETEASTSGEVAEVAEEAMETESSEKVGKETSELGGSDVSILDTTRLLRSCV
QSAVGMLRDQNESCTRNMRRVVLLLGLLNEDDACHASFLRVSKMRLSVFLKKQEESQFHP
LEWLAREACNQDALQEAGTFRHTLWKRVQGAVTPLLASMISFIDRDGNLELLTRPDTPPW
ARDLWMFIFSDTMLLNIPLVMNNERHKGEMAYIVVQNHMNLSENASNNVPFSWKIKDYLE
ELWVQAQYITDAEGLPKKFVDIFQQTPLGRFLAQLHGEPQQELLQCYLKDFILLTMRVST
EEELKFLQMALWSCTRKLKAASEAPEEEVSLPWVHLAYQRFRSRLQNFSRILTIYPQVLH
SLMEARWNHELAGCEMTLDAFAAMACTEMLTRNTLKPSPQAWLQLVKNLSMPLELICSDE
HMQGSGSLAQAVIREVRAQWSRIFSTALFVEHVLLGTESRVPELQGLVTEHVFLLDKCLR
ENSDVKTHGPFEAVMRTLCECKETASKTLSRFGIQPCSICLGDAKDPVCLPCDHVHCLRC
LRAWFASEQMICPYCLTALPDEFSPAVSQAHREAIEKHARFRQMCNSFFVDLVSTICFKD
NAPPEKEVIESLLSLLFVQKGRLRDAAQRHCEHTKSLSPFNDVVDKTPVIRSVILKLLLK
YSFHDVKDYIQEYLTLLKKKAFITEDKTELYMLFINCLEDSILEKTSAYSRNDELNHLEE
EGRFLKAYSPASRGREPANEASVEYLQEVARIRLCLDRAADFLSEPEGGPEMAKEKQCYL
QQVKQFCIRVENDWHRVYLVRKLSSQRGMEFVQGLSKPGRPHQWVFPKDVVKQQGLRQDH
PGQMDRYLVYGDEYKALRDAVAKAVLECKPLGIKTALKACKTPQSQQSAYFLLTLFREVA
ILYRSHNASLHPTPEQCEAVSKFIGECKILSPPDISRFATSLVDNSVPLLRAGPSDSNLD
GTVTEMAIHAAAVLLCGQNELLEPLKNLAFSPATMAHAFLPTMPEDLLAQARRWKGLERV
HWYTCPNGHPCSVGECGRPMEQSICIDCHAPIGGIDHKPRDGFHLVKDKADRTQTGHVLG
NPQRRDVVTCDRGLPPVVFLLIRLLTHLALLLGASQSSQALINIIKPPVRDPKGFLQQHI
LKDLEQLAKMLGHSADETIGVVHLVLRRLLQEQHQLSSRRLLNFDTELSTKEMRNNWEKE
IAAVISPELEHLDKTLPTMNNLISQDKRISSNPVAKIIYGDPVTFLPHLPRKSVVHCSKI
WSCRKRITVEYLQHIVEQKNGKERVPILWHFLQKEAELRLVKFLPEILALQRDLVKQFQN
VQQVEYSSIRGFLSKHSSDGLRQLLHNRITVFLSTWNKLRRSLETNGEINLPKDYCSTDL
DLDTEFEILLPRRRGLGLCATALVSYLIRLHNEIVYAVEKLSKENNSYSVDAAEVTELHV
ISYEVERDLTPLILSNCQYQVEEGRETVQEFDLEKIQRQIVSRFLQGKPRLSLKGIPTLV
YRHDWNYEHLFMDIKNKMAQDSLPSSVISAISGQLQSYSDACEVLSVVEVTLGFLSTAGG
DPNMQLNVYTQDILQMGDQTIHVLKALNRCQLKHTIALWQFLSAHKSEQLLRLHKEPFGE
ISSRYKADLSPENAKLLSTFLNQTGLDAFLLELHEMIILKLKNPQTQTEERFRPQWSLRD
TLVSYMQTKESEILPEMASQFPEEILLASCVSVWKTAAVLKWNREMR
Function
Atypical E3 ubiquitin ligase that can catalyze ubiquitination of both proteins and lipids, and which is involved in various processes, such as lipid metabolism, angiogenesis and cell-autonomous immunity. Acts as a key immune sensor by catalyzing ubiquitination of the lipid A moiety of bacterial lipopolysaccharide (LPS) via its RZ-type zinc-finger: restricts the proliferation of cytosolic bacteria, such as Salmonella, by generating the bacterial ubiquitin coat through the ubiquitination of LPS. Also acts indirectly by mediating the recruitment of the LUBAC complex, which conjugates linear polyubiquitin chains. Ubiquitination of LPS triggers cell-autonomous immunity, such as antibacterial autophagy, leading to degradation of the microbial invader. Involved in lipid metabolism by regulating fat storage and lipid droplet formation; act by inhibiting the lipolytic process. Also regulates lipotoxicity by inhibiting desaturation of fatty acids. Also acts as an E3 ubiquitin-protein ligase via its RING-type zinc finger: mediates 'Lys-63'-linked ubiquitination of target proteins. Involved in the non-canonical Wnt signaling pathway in vascular development: acts by mediating ubiquitination and degradation of FLNA and NFATC2 downstream of RSPO3, leading to inhibit the non-canonical Wnt signaling pathway and promoting vessel regression. Also has ATPase activity; ATPase activity is required for ubiquitination of LPS.
Tissue Specificity Widely expressed (at protein level).; [Isoform 1]: Major isoform detected in all tissues examined.; [Isoform 2]: Minor isoform with restricted expression.
Reactome Pathway
Signaling by ALK fusions and activated point mutants (R-HSA-9725370 )
Antigen processing (R-HSA-983168 )
Suppression of apoptosis (R-HSA-9635465 )

Molecular Interaction Atlas (MIA) of This DOT

25 Disease(s) Related to This DOT
Disease Name Disease ID Evidence Level Mode of Inheritance REF
Coronary atherosclerosis DISKNDYU Definitive Genetic Variation [1]
Coronary heart disease DIS5OIP1 Definitive Genetic Variation [1]
High blood pressure DISY2OHH Definitive Genetic Variation [2]
Alzheimer disease DISF8S70 Strong Biomarker [3]
Anaplastic large cell lymphoma DISP4D1R Strong Genetic Variation [4]
Arterial disorder DISLG4XS Strong Genetic Variation [5]
Arteriosclerosis DISK5QGC Strong Genetic Variation [6]
Atherosclerosis DISMN9J3 Strong Genetic Variation [6]
Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy DIS93Z3E Strong Biomarker [7]
Cerebral infarction DISR1WNP Strong Altered Expression [8]
Cerebrovascular disease DISAB237 Strong Biomarker [2]
Childhood acute lymphoblastic leukemia DISJ5D6U Strong Genetic Variation [9]
Depression DIS3XJ69 Strong Genetic Variation [10]
Duchenne muscular dystrophy DISRQ3NV Strong Genetic Variation [11]
Familial isolated congenital asplenia DIS60HWJ Strong Genetic Variation [12]
Hemangioma DISDCGAG Strong Genetic Variation [13]
Hyperthyroidism DISX87ZH Strong Genetic Variation [14]
Moyamoya disease 2 DISVJXKB Strong Autosomal dominant [15]
Neoplasm DISZKGEW Strong Biomarker [16]
Pulmonary arterial hypertension DISP8ZX5 Strong Genetic Variation [17]
Stroke DISX6UHX Strong Genetic Variation [18]
Tauopathy DISY2IPA Strong Genetic Variation [19]
Neurofibromatosis type 1 DIS53JH9 moderate Genetic Variation [20]
Migraine disorder DISFCQTG Limited Genetic Variation [21]
Type-1/2 diabetes DISIUHAP Limited Genetic Variation [22]
------------------------------------------------------------------------------------
⏷ Show the Full List of 25 Disease(s)
Molecular Interaction Atlas (MIA) Jump to Detail Molecular Interaction Atlas of This DOT
4 Drug(s) Affected the Post-Translational Modifications of This DOT
Drug Name Drug ID Highest Status Interaction REF
Valproate DMCFE9I Approved Valproate increases the methylation of E3 ubiquitin-protein ligase RNF213 (RNF213). [23]
Arsenic DMTL2Y1 Approved Arsenic affects the methylation of E3 ubiquitin-protein ligase RNF213 (RNF213). [29]
PMID28870136-Compound-52 DMFDERP Patented PMID28870136-Compound-52 affects the phosphorylation of E3 ubiquitin-protein ligase RNF213 (RNF213). [37]
Coumarin DM0N8ZM Investigative Coumarin increases the phosphorylation of E3 ubiquitin-protein ligase RNF213 (RNF213). [37]
------------------------------------------------------------------------------------
15 Drug(s) Affected the Gene/Protein Processing of This DOT
Drug Name Drug ID Highest Status Interaction REF
Tretinoin DM49DUI Approved Tretinoin decreases the expression of E3 ubiquitin-protein ligase RNF213 (RNF213). [24]
Acetaminophen DMUIE76 Approved Acetaminophen decreases the expression of E3 ubiquitin-protein ligase RNF213 (RNF213). [25]
Doxorubicin DMVP5YE Approved Doxorubicin affects the expression of E3 ubiquitin-protein ligase RNF213 (RNF213). [26]
Cupric Sulfate DMP0NFQ Approved Cupric Sulfate increases the expression of E3 ubiquitin-protein ligase RNF213 (RNF213). [27]
Ivermectin DMDBX5F Approved Ivermectin decreases the expression of E3 ubiquitin-protein ligase RNF213 (RNF213). [28]
Quercetin DM3NC4M Approved Quercetin increases the expression of E3 ubiquitin-protein ligase RNF213 (RNF213). [30]
Marinol DM70IK5 Approved Marinol increases the expression of E3 ubiquitin-protein ligase RNF213 (RNF213). [31]
Urethane DM7NSI0 Phase 4 Urethane decreases the expression of E3 ubiquitin-protein ligase RNF213 (RNF213). [32]
SNDX-275 DMH7W9X Phase 3 SNDX-275 increases the expression of E3 ubiquitin-protein ligase RNF213 (RNF213). [33]
Epigallocatechin gallate DMCGWBJ Phase 3 Epigallocatechin gallate increases the expression of E3 ubiquitin-protein ligase RNF213 (RNF213). [34]
Benzo(a)pyrene DMN7J43 Phase 1 Benzo(a)pyrene increases the expression of E3 ubiquitin-protein ligase RNF213 (RNF213). [30]
(+)-JQ1 DM1CZSJ Phase 1 (+)-JQ1 decreases the expression of E3 ubiquitin-protein ligase RNF213 (RNF213). [35]
PMID28460551-Compound-2 DM4DOUB Patented PMID28460551-Compound-2 increases the expression of E3 ubiquitin-protein ligase RNF213 (RNF213). [36]
Bisphenol A DM2ZLD7 Investigative Bisphenol A increases the expression of E3 ubiquitin-protein ligase RNF213 (RNF213). [38]
Formaldehyde DM7Q6M0 Investigative Formaldehyde increases the expression of E3 ubiquitin-protein ligase RNF213 (RNF213). [39]
------------------------------------------------------------------------------------
⏷ Show the Full List of 15 Drug(s)

References

1 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.
2 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.
3 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.
4 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.
5 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.
6 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.
7 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.
8 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.
9 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.
10 Depression and Catatonia: A Case of Neuropsychiatric Complications of Moyamoya Disease.Cureus. 2018 Oct 16;10(10):e3460. doi: 10.7759/cureus.3460.
11 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.
12 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.
13 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.
14 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.
15 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.
16 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.
17 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.
18 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.
19 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.
20 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.
21 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.
22 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.
23 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.
24 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.
25 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.
26 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.
27 Physiological and toxicological transcriptome changes in HepG2 cells exposed to copper. Physiol Genomics. 2009 Aug 7;38(3):386-401.
28 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.
29 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.
30 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.
31 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.
32 Ethyl carbamate induces cell death through its effects on multiple metabolic pathways. Chem Biol Interact. 2017 Nov 1;277:21-32.
33 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.
34 Epigallocatechin-3-gallate (EGCG) protects against chromate-induced toxicity in vitro. Toxicol Appl Pharmacol. 2012 Jan 15;258(2):166-75.
35 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.
36 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.
37 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.
38 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.
39 Characterization of formaldehyde's genotoxic mode of action by gene expression analysis in TK6 cells. Arch Toxicol. 2013 Nov;87(11):1999-2012.