RNF213

Summary

Gene Symbol: RNF213
Description: ring finger protein 213
Alias: ALO17, C17orf27, KIAA1618, MYMY2, MYSTR, NET57, E3 ubiquitin-protein ligase RNF213, ALK lymphoma oligomerization partner on chromosome 17, RING-type E3 ubiquitin transferase RNF213, mysterin
Species: human
Products:     RNF213

Top Publications

  1. Kamada F, Aoki Y, Narisawa A, Abe Y, Komatsuzaki S, Kikuchi A, et al. A genome-wide association study identifies RNF213 as the first Moyamoya disease gene. J Hum Genet. 2011;56:34-40 pubmed publisher
    ..A single haplotype consisting of seven SNPs at the RNF213 locus was tightly associated with MMD (P = 5.3 × 10(-10))...
  2. Liu W, Morito D, Takashima S, Mineharu Y, Kobayashi H, Hitomi T, et al. Identification of RNF213 as a susceptibility gene for moyamoya disease and its possible role in vascular development. PLoS ONE. 2011;6:e22542 pubmed publisher
    ..There was a variant of p.N321S in PCMTD1 and p.R4810K in RNF213 in the 1.5-Mb locus of the eight index cases. The p...
  3. Wu Z, Jiang H, Zhang L, Xu X, Zhang X, Kang Z, et al. Molecular analysis of RNF213 gene for moyamoya disease in the Chinese Han population. PLoS ONE. 2012;7:e48179 pubmed publisher
    ..Previous studies have shown that the RNF213 gene was related to MMD susceptibility in the Japanese population...
  4. Yamauchi T, Tada M, Houkin K, Tanaka T, Nakamura Y, Kuroda S, et al. Linkage of familial moyamoya disease (spontaneous occlusion of the circle of Willis) to chromosome 17q25. Stroke. 2000;31:930-5 pubmed
    ..Multipoint linkage analysis also indicated that the disease gene is contained within the 9-cM region of D17S785 to D17S836, with a maximum LOD score of 4. 58. A gene for familial moyamoya disease is located on chromosome 17q25. ..
  5. Miyatake S, Miyake N, Touho H, Nishimura Tadaki A, Kondo Y, Okada I, et al. Homozygous c.14576G>A variant of RNF213 predicts early-onset and severe form of moyamoya disease. Neurology. 2012;78:803-10 pubmed publisher
    b>RNF213 was recently reported as a susceptibility gene for moyamoya disease (MMD). Our aim was to clarify the correlation between the RNF213 genotype and MMD phenotype...
  6. Miyatake S, Touho H, Miyake N, Ohba C, Doi H, Saitsu H, et al. Sibling cases of moyamoya disease having homozygous and heterozygous c.14576G>A variant in RNF213 showed varying clinical course and severity. J Hum Genet. 2012;57:804-6 pubmed publisher
    ..Sibling cases usually exhibit a similar clinical course. Recently, RNF213 was identified as the first MMD susceptibility gene. The c...
  7. Piccolis M, Bond L, Kampmann M, Pulimeno P, Chitraju C, Jayson C, et al. Probing the Global Cellular Responses to Lipotoxicity Caused by Saturated Fatty Acids. Mol Cell. 2019;: pubmed publisher
    ..Among previously unknown genetic modifiers of lipotoxicity, depletion of RNF213, a putative ubiquitin ligase mutated in Moyamoya vascular disease, protected cells from lipotoxicity...
  8. Nomura S, Akagawa H, Yamaguchi K, Ishikawa T, Kawashima A, Kasuya H, et al. Rare and Low-Frequency Variants in RNF213 Confer Susceptibility to Moyamoya Syndrome Associated with Hyperthyroidism. World Neurosurg. 2019;: pubmed publisher
    ..Recent studies have shown that a proportion of East Asian (EAS) patients with MMS possess the p.R4810K variant of RNF213 (rs112735431), the foremost susceptibility variant among EAS patients with MMD...
  9. Nomura S, Yamaguchi K, Akagawa H, Kawashima A, Moteki Y, Ishikawa T, et al. Genotype-Phenotype Correlation in Long-Term Cohort of Japanese Patients with Moyamoya Disease. Cerebrovasc Dis. 2019;:1-7 pubmed publisher
    Homozygosity of this p.R4810K founder variant of RNF213 moyamoya disease (MMD) susceptibility gene is known to influence the severity of the clinical disease phenotype at disease onset...

More Information

Publications111 found, 100 shown here

  1. Pfarr N, Allgäuer M, Steiger K, Weichert W, Schirmacher P, Noske A, et al. Several genotypes, one phenotype: PIK3CA/AKT1 mutation-negative hidradenoma papilliferum show genetic lesions in other components of the signalling network. Pathology. 2019;: pubmed publisher
    ..were PIK3CA (n=1, non-hotspot mutation), PIK3R1 (n=3), SYNE1, AR, IL6ST, PDGFRB, KMT2C, AR, BTK, DST, KAT6A, BRD3, RNF213, USP9X, ADGRB3, MAGI1, and IL7R (each gene mutated once)...
  2. Sugihara M, Morito D, Ainuki S, Hirano Y, Ogino K, Kitamura A, et al. The AAA+ ATPase/ubiquitin ligase mysterin stabilizes cytoplasmic lipid droplets. J Cell Biol. 2019;218:949-960 pubmed publisher
    b>Mysterin, also known as RNF213, is an intracellular protein that forms large toroidal oligomers. Mysterin was originally identified in genetic studies of moyamoya disease (MMD), a rare cerebrovascular disorder of unknown etiology...
  3. Liao X, Zhang T, Li B, Hu S, Liu J, Deng J, et al. Rare RNF213 variants and the risk of intracranial artery stenosis/occlusion disease in Chinese population: a case-control study. BMC Med Genet. 2019;20:55 pubmed publisher
    b>RNF213 rare variant-p.R4810K (rs112735431) was significantly associated with intracranial artery stenosis/occlusion disease (ICASO) in Japan and Korea and to a lesser degree in China...
  4. Li X, Xu W, Kang W, Wong S, Wang M, Zhou Y, et al. Genomic analysis of liver cancer unveils novel driver genes and distinct prognostic features. Theranostics. 2018;8:1740-1751 pubmed publisher
    ..b>Results: We discovered 11 novel driver genes, including RNF213, VAV3 and TNRC6B, with mutational prevalence ranging from 1% to 3%...
  5. Ikari N, Serizawa A, Mitani S, Yamamoto M, Furukawa T. Near-Comprehensive Resequencing of Cancer-Associated Genes in Surgically Resected Metastatic Liver Tumors of Gastric Cancer. Am J Pathol. 2019;: pubmed publisher
    ..from 30 patients and somatic mutations in TP53, LRP1B, PIK3CA, ADAMTS20, PAX7, FN1, FOXO3, WRN, PTEN, ETV4, and RNF213 were found in metastatic tumors...
  6. Amal H, Gong G, Gjoneska E, Lewis S, Wishnok J, Tsai L, et al. 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;9:44 pubmed publisher
    ..the P301S mice; including increases in phosphorylated CaMKII, and S-nitrosylation of E3 ubiquitin-protein ligase RNF213 (RNF-213) leading to increased levels of nuclear factor of activated T-cells 1 (NFAT-1) and FILAMIN-A, which ..
  7. Mukawa M, Nariai T, Onda H, Yoneyama T, Aihara Y, Hirota K, et al. Exome Sequencing Identified CCER2 as a Novel Candidate Gene for Moyamoya Disease. J Stroke Cerebrovasc Dis. 2017;26:150-161 pubmed publisher
    The etiology of Moyamoya disease (MMD) is still largely unclear, despite identification of RNF213 as the most significant susceptibility gene in East Asian patients...
  8. Hu J, Luo J, Chen Q. The Susceptibility Pathogenesis of Moyamoya Disease. World Neurosurg. 2017;101:731-741 pubmed publisher
    ..Recent genome-wide and locus-specific association studies identified RNF213 as an important susceptibility gene of MMD among the East Asian population...
  9. Liu Y, Wu X, Fan Z, Cheng J, Zhong L, Lin Y, et al. Development of atherosclerotic-moyamoya syndrome with genetic variant of RNF213 p.R4810K and p.T1727M: A case report. Clin Neurol Neurosurg. 2018;168:163-166 pubmed publisher
    ..case of atherosclerotic-moyamoya syndrome (A-MMS) in an adult female with genetic variant of both ring finger 213 (RNF213) p.R4810K and p.T1727M...
  10. Li Z, Zhou C, Tan L, Chen P, Cao Y, Li X, et al. A targeted sequencing approach to find novel pathogenic genes associated with sporadic aortic dissection. Sci China Life Sci. 2018;61:1545-1553 pubmed publisher
    ..34×10-4). With a burden test, we highlighted RNF213 as an important new gene for AD pathogenesis...
  11. Vlenterie M, Hillebrandt Roeffen M, Flucke U, Groenen P, Tops B, Kamping E, et al. Next generation sequencing in synovial sarcoma reveals novel gene mutations. Oncotarget. 2015;6:34680-90 pubmed publisher
    ..Additional mutations were detected in RNF213, SEPT9, KDR, CSMD3, MLH1 and ERBB4. DNA alterations occurred more often in adult tumors...
  12. Kim W, Kim S, Nam M, Jung J, Jin S, Ha S, et al. Posterior circulation involvement and collateral flow pattern in moyamoya disease with the RNF213 polymorphism. Childs Nerv Syst. 2019;35:309-314 pubmed publisher
    ..Recent studies have identified the ring finger protein 213 gene (RNF213) as the unique susceptibility gene for moyamoya disease...
  13. Uchino H, Ito M, Kazumata K, Hama Y, Hamauchi S, Terasaka S, et al. Circulating miRNome profiling in Moyamoya disease-discordant monozygotic twins and endothelial microRNA expression analysis using iPS cell line. BMC Med Genomics. 2018;11:72 pubmed publisher
    ..in the circle of Willis with unknown etiology even after the identification of a Moyamoya susceptible gene, RNF213. Recently, differences in epigenetic regulations have been investigated by a case-control study in MMD...
  14. Cao Y, Kobayashi H, Morimoto T, Kabata R, Harada K, Koizumi A. Frequency of RNF213 p.R4810K, a susceptibility variant for moyamoya disease, and health characteristics of carriers in the Japanese population. Environ Health Prev Med. 2016;21:387-390 pubmed publisher
    b>RNF213 p.R4810K is a founder polymorphism that confers genetic susceptibility to moyamoya disease in East Asia. Only a few studies have investigated the symptoms and disease histories of RNF213 p.R4810K carriers in Japan...
  15. Zarski D, Nguyen T, Le Cam A, Montfort J, Dutto G, Vidal M, et al. Transcriptomic Profiling of Egg Quality in Sea Bass (Dicentrarchus labrax) Sheds Light on Genes Involved in Ubiquitination and Translation. Mar Biotechnol (NY). 2017;19:102-115 pubmed publisher
    ..the importance of some of the genes already reported to be potential molecular quality indicators (mainly rnf213 and irf7), but we also found new genes (mainly usp5, mem-prot, plec, cenpf), which had not yet been reported to be ..
  16. Kim Y, Lee J, Ahn S, Kim B, Kang D, Kim J, et al. Nonatheroscleotic Isolated Middle Cerebral Artery Disease May Be Early Manifestation of Moyamoya Disease. Stroke. 2016;47:2229-35 pubmed publisher
    ..MCAD in young Asian patients using high-resolution magnetic resonance imaging (HR-MRI) and mutation analysis of RNF213. Patients aged <60 years with stroke or transient ischemic attack caused by MCAD were prospectively enrolled...
  17. Monies D, Abouelhoda M, AlSayed M, Alhassnan Z, Alotaibi M, Kayyali H, et al. The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes. Hum Genet. 2017;136:921-939 pubmed publisher
    ..mpp7, mrps35, mtdh, mtmr9, necap2, npat, nrap, pax7, pcnx, plch2, plekhf1, ptpn12, qki, rilpl2, rimkla, rims2, rnf213, robo1, sec16a, siah1, sirt2, slain2, slc22a20, smdt1, srrt, sstr1, st20, syt9, tspan6, ubr4, vamp4, vps36, wdr59, ..
  18. Ito A, Fujimura M, Niizuma K, Kanoke A, Sakata H, Morita Fujimura Y, et al. Enhanced post-ischemic angiogenesis in mice lacking RNF213; a susceptibility gene for moyamoya disease. Brain Res. 2015;1594:310-20 pubmed publisher
    ..Recent genome-wide studies identified RNF213 as an important MMD susceptibility gene...
  19. Zhao S, Gong Z, Zhang J, Xu X, Liu P, Guan W, et al. Elevated Serum MicroRNA Let-7c in Moyamoya Disease. J Stroke Cerebrovasc Dis. 2015;24:1709-14 pubmed publisher
    ..A dual luciferase assay was used to test whether let-7c recognized the 3'UTR of RNF213. The expression level of let-7c in MMD patients is higher than that observed in the control groups (P < .001)...
  20. Duan L, Wei L, Tian Y, Zhang Z, Hu P, Wei Q, et al. Novel Susceptibility Loci for Moyamoya Disease Revealed by a Genome-Wide Association Study. Stroke. 2018;49:11-18 pubmed publisher
    ..02% of risk variance explained by all genome-wide genotyped SNPs. One SNP, rs9916351 in RNF213 (Pcombined=4.57×10-54; odds ratio, 1...
  21. Morimoto T, Enmi J, Hattori Y, Iguchi S, Saito S, Harada K, et al. Dysregulation of RNF213 promotes cerebral hypoperfusion. Sci Rep. 2018;8:3607 pubmed publisher
    b>RNF213 is a susceptibility gene for moyamoya disease, yet its exact functions remain unclear...
  22. Andrade F, de Assis S, Jin L, Fontelles C, Barbisan L, Purgatto E, et al. Lipidomic fatty acid profile and global gene expression pattern in mammary gland of rats that were exposed to lard-based high fat diet during fetal and lactation periods associated to breast cancer risk in adulthood. Chem Biol Interact. 2015;239:118-28 pubmed publisher
    ..These unique connections included Hrh1-Ythdf1 and Repin1-Elavl2 in the in utero HF offspring, and Rnf213-Htr3b and Klf5-Chrna4 in the in utero and lactation HF offspring, compared with the control offspring...
  23. Ismail I, Al Khafaji K, Mutyala M, Aggarwal S, Al Khafaji N, Kovacs D, et al. 'Smoke in the air': a rare cerebrovascular cause of neurological signs and symptoms in a young adult. J Community Hosp Intern Med Perspect. 2015;5:27664 pubmed publisher
    ..Etiology for the most part is unknown; however, genetic susceptibility related to RNF213 gene on chromosome 17q25.3 has been suggested...
  24. Raso A, Biassoni R, Mascelli S, Nozza P, Ugolotti E, Di Marco E, et al. Moyamoya vasculopathy shows a genetic mutational gradient decreasing from East to West. J Neurosurg Sci. 2016;: pubmed
    ..Most of the studies focused on MMD were carried out on East-Asian population. Ring Finger 213 (RNF213) has been identified as the strongest susceptibility gene for MMD in East-Asian people...
  25. Reddy B, Kelawala D, Shah T, Patel A, Patil D, Parikh P, et al. Identification of putative SNPs in progressive retinal atrophy affected Canis lupus familiaris using exome sequencing. Mamm Genome. 2015;26:638-49 pubmed publisher
    ..M307V), PITRM1 T>G (p.S715A), APP G>A (p.T266M), RNF213 A>G (p.V1482A), C>A (p.V1456L), and SLC46A3 G>A (p.R168Q)...
  26. Er T, Su Y, Wu C, Chen C, Wang J, Hsieh T, et al. Targeted next-generation sequencing for molecular diagnosis of endometriosis-associated ovarian cancer. J Mol Med (Berl). 2016;94:835-47 pubmed publisher
    ..3/10 each), and AMER1, ARID2, BCL11A, CREBBP, ERBB2, EXT1, FANCD2, MSH6, NF1, NOTCH1, NUMA1, PDE4DIP, PPP2R1A, RNF213, and SYNE1 (2/10 each)...
  27. Chong P, Ogata R, Kobayashi H, Koizumi A, Kira R. Early onset of moyamoya syndrome in a Down syndrome patient with the genetic variant RNF213 p.R4810K. Brain Dev. 2015;37:822-4 pubmed publisher
    ..Genetic testing revealed a heterozygous missense variant of RNF213. RNF213 was recently identified as the first susceptibility gene for moyamoya disease in patients with no known ..
  28. Zhang Q, Yu L, Ge P, Ma Y, Zhang D, Zhang Y, et al. Association of Ring Finger Protein 213 Gene P.R4810k Polymorphism with Intracranial Major Artery Stenosis/Occlusion. J Stroke Cerebrovasc Dis. 2018;27:1556-1564 pubmed publisher
    ..A number of studies have assessed the association of the p.R4810K polymorphism in the ring finger protein 213 (RNF213) gene with ICASO, but the results have not been entirely consistent...
  29. Wang Y, Mambiya M, Li Q, Yang L, Jia H, Han Y, et al. RNF213 p.R4810K Polymorphism and the Risk of Moyamoya Disease, Intracranial Major Artery Stenosis/Occlusion, and Quasi-Moyamoya Disease: A Meta-Analysis. J Stroke Cerebrovasc Dis. 2018;27:2259-2270 pubmed publisher
    Accumulating studies have reported that there is an association between the Ring finger protein 213 (RNF213) p.R4810K (rs112735431, c...
  30. van der Krogt J, Bempt M, Ferreiro J, Mentens N, Jacobs K, Pluys U, et al. Anaplastic lymphoma kinase-positive anaplastic large cell lymphoma with the variant RNF213-, ATIC- and TPM3-ALK fusions is characterized by copy number gain of the rearranged ALK gene. Haematologica. 2017;102:1605-1616 pubmed publisher
    ..The identified partner genes included EEF1G (one case), RNF213/ALO17 (one case), ATIC (four cases) and TPM3 (two cases)...
  31. Inoue T, Murakami N, Sakadume S, Kido Y, Kikuchi A, Ichinoi N, et al. Differing phenotypes of Moyamoya disease in a familial case involving heterozygous c.14429G > A variant in RNF213. Pediatr Int. 2015;57:798-801 pubmed publisher
    ..Ring finger protein (RNF213) on the 17q25.3 locus was identified as an MMD-susceptibility gene in East Asian populations...
  32. Shoemaker L, Clark M, Patwardhan A, Chandratillake G, Garcia S, Chen R, et al. Disease Variant Landscape of a Large Multiethnic Population of Moyamoya Patients by Exome Sequencing. G3 (Bethesda). 2015;6:41-9 pubmed publisher
    ..Diagnosis commonly occurs only after clinical presentation. The recent identification of the RNF213 founder mutation (p...
  33. Zhang Q, Liu Y, Yu L, Duan R, Ma Y, Ge P, et al. The Association of the RNF213 p.R4810K Polymorphism with Quasi-Moyamoya Disease and a Review of the Pertinent Literature. World Neurosurg. 2017;99:701-708.e1 pubmed publisher
    ..The p.R4810K variant was associated with atherosclerotic and autoimmune quasi-MMD in a Chinese population, and a lower prevalence of this variant in patients with quasi-MMD compared with patients with MMD was observed. ..
  34. Araki Y, Takagi Y, Mineharu Y, Kobayashi H, Miyamoto S, Wakabayashi T. Rapid contralateral progression of focal cerebral arteriopathy distinguished from RNF213-related moyamoya disease and fibromuscular dysplasia. Childs Nerv Syst. 2017;33:1405-1409 pubmed publisher
    ..Genetic analysis did not show ring finger protein 213 (RNF213)-related moyamoya disease, and pathological examination revealed no characteristics of fibromuscular dysplasia...
  35. Aoyama J, Nariai T, Mukawa M, Inaji M, Tanaka Y, Maehara T. Case of Familial Moyamoya Disease Presenting 10 Years After Initial Negative Magnetic Resonance Screening in Childhood. World Neurosurg. 2017;105:1035.e1-1035.e4 pubmed publisher
    ..Gene analysis on the point mutation of RNF213, p...
  36. Takamatsu Y, Higashimoto K, Maeda T, Kawashima M, Matsuo M, Abe T, et al. Differences in the Genotype Frequency of the RNF213 Variant in Patients with Familial Moyamoya Disease in Kyushu, Japan. Neurol Med Chir (Tokyo). 2017;57:607-611 pubmed publisher
    The p.R4810K (rs11273543, c.14429G > A) variant of the RNF213 gene is associated with increased risk of Moyamoya disease (MMD), which is an idiopathic progressive intracranial vascular steno-occlusive disease, in Asian populations...
  37. Sato Maeda M, Fujimura M, Kanoke A, Morita Fujimura Y, Niizuma K, Tominaga T. Transient middle cerebral artery occlusion in mice induces neuronal expression of RNF213, a susceptibility gene for moyamoya disease. Brain Res. 2016;1630:50-5 pubmed publisher
    Although recent genome-wide and locus-specific association studies revealed that the RING finger protein 213 (RNF213) gene is an important susceptibility gene for moyamoya disease (MMD), the exact mechanism by which the genetic alteration ..
  38. Hamauchi S, Shichinohe H, Uchino H, Yamaguchi S, Nakayama N, Kazumata K, et al. Cellular Functions and Gene and Protein Expression Profiles in Endothelial Cells Derived from Moyamoya Disease-Specific iPS Cells. PLoS ONE. 2016;11:e0163561 pubmed publisher
    ..iPSC lines were established from the peripheral blood of three patients with MMD carrying the variant RNF213 R4810K, and three healthy persons used as controls...
  39. Rawal R, Joshi M, Bhargava P, Shaikh I, Pandit A, Patel R, et al. Tobacco habituated and non-habituated subjects exhibit different mutational spectrums in head and neck squamous cell carcinoma. 3 Biotech. 2015;5:685-696 pubmed publisher
    ..Comparison of genes from both the subjects, showed seven unique cancer driver genes (KIT, ATM, RNF213, GATA2, DST, RET, CYP2C19) in WoH, while WH showed five (IL7R, PKHD1, MLL3, PTPRD, MAPK8) and 10 genes (SETD2, ATR,..
  40. Warejko J, Schueler M, Vivante A, Tan W, Daga A, Lawson J, et al. Whole Exome Sequencing Reveals a Monogenic Cause of Disease in ≈43% of 35 Families With Midaortic Syndrome. Hypertension. 2018;71:691-699 pubmed publisher
    ..the genes previously associated with vascular disease (NF1, JAG1, ELN, GATA6, and RNF213). Ten of the 15 mutations have not previously been reported...
  41. Lit L, Sharp F, Bertoglio K, Stamova B, Ander B, Sossong A, et al. Gene expression in blood is associated with risperidone response in children with autism spectrum disorders. Pharmacogenomics J. 2012;12:368-71 pubmed publisher
    ..within five genes was correlated with change in ABC-I scores across all risperidone-treated subjects: GBP6, RABL5, RNF213, NFKBID and RNF40 (?<0.001). RNF40 is located at 16p11.2, a region implicated in autism and schizophrenia...
  42. Kanoke A, Fujimura M, Niizuma K, Ito A, Sakata H, Sato Maeda M, et al. Temporal profile of the vascular anatomy evaluated by 9.4-tesla magnetic resonance angiography and histological analysis in mice with the R4859K mutation of RNF213, the susceptibility gene for moyamoya disease. Brain Res. 2015;1624:497-505 pubmed publisher
    ..Recent genome-wide and locus-specific association studies identified the RNF213 gene (RNF213) as an important susceptibility gene of MMD among East Asian populations; however, the mechanism by ..
  43. Koizumi A, Kobayashi H, Hitomi T, Harada K, Habu T, Youssefian S. A new horizon of moyamoya disease and associated health risks explored through RNF213. Environ Health Prev Med. 2016;21:55-70 pubmed publisher
    ..several monogenic diseases are known to be complicated by Moyamoya angiopathy, the ring finger protein 213 gene (RNF213) was identified as a susceptibility gene for MMD...
  44. Yeung W, Mizuta I, Watanabe Hosomi A, Yokote A, Koizumi T, Mukai M, et al. RNF213-related susceptibility of Japanese CADASIL patients to intracranial arterial stenosis. J Hum Genet. 2018;63:687-690 pubmed publisher
    ..14576G>A (p.R4859K, rs112735431) variant of the ring finger protein 213 (RNF213) gene and sporadic intracranial arterial stenosis (ICAS)...
  45. Vettore A, Ramnarayanan K, Poore G, Lim K, Ong C, Huang K, et al. Mutational landscapes of tongue carcinoma reveal recurrent mutations in genes of therapeutic and prognostic relevance. Genome Med. 2015;7:98 pubmed publisher
    ..described cohorts of patients with head and neck tumors: OTSCCs demonstrated frequent mutations in DST and RNF213, while alterations in CDKN2A and NOTCH1 were significantly less frequent...
  46. Kotani Y, Morito D, Yamazaki S, Ogino K, Kawakami K, Takashima S, et al. Neuromuscular regulation in zebrafish by a large AAA+ ATPase/ubiquitin ligase, mysterin/RNF213. Sci Rep. 2015;5:16161 pubmed publisher
    b>Mysterin (also known as RNF213) is a huge intracellular protein with two AAA+ ATPase modules and a RING finger ubiquitin ligase domain...
  47. Bang O, Chung J, Cha J, Lee M, Yeon J, Ki C, et al. A Polymorphism in RNF213 Is a Susceptibility Gene for Intracranial Atherosclerosis. PLoS ONE. 2016;11:e0156607 pubmed publisher
    ..We hypothesized that the Ring Finger protein 213 gene polymorphism (RNF213), a susceptibility locus for MMD in East Asians, is also a susceptibility gene for ICAS in patients whose ..
  48. Sun X, Wen J, Li J, Lai R, Wang Y, Liu H, et al. The association between the ring finger protein 213 (RNF213) polymorphisms and moyamoya disease susceptibility: a meta-analysis based on case-control studies. Mol Genet Genomics. 2016;291:1193-203 pubmed publisher
    A number of studies assessed the association of ring finger protein 213 (RNF213) gene polymorphisms with moyamoya disease (MMD), but the results were not entirely consistent...
  49. Kanoke A, Fujimura M, Niizuma K, Fujimura T, Kakizaki A, Ito A, et al. Temporal profile of magnetic resonance angiography and decreased ratio of regulatory T cells after immunological adjuvant administration to mice lacking RNF213, a susceptibility gene for moyamoya disease. Brain Res. 2016;1642:1-9 pubmed publisher
    ..Recent studies identified the RNF213 gene (RNF213) as an important susceptibility gene for MMD; however, the mechanisms underlying the RNF213 ..
  50. Jang M, Chung J, Yeon J, Kim J, Hong S, Bang O, et al. Frequency and significance of rare RNF213 variants in patients with adult moyamoya disease. PLoS ONE. 2017;12:e0179689 pubmed publisher
    ..Although a founder variant of RNF213, p.Arg4810Lys (c...
  51. Smith K, Leventer R, Mackay M, Pope K, Gillies G, Delatycki M, et al. Identification of a novel RNF213 variant in a family with heterogeneous intracerebral vasculopathy. Int J Stroke. 2014;9:E26-7 pubmed publisher
  52. Sonobe S, Fujimura M, Niizuma K, Fujimura T, Furudate S, Nishijima Y, et al. Increased vascular MMP-9 in mice lacking RNF213: moyamoya disease susceptibility gene. Neuroreport. 2014;25:1442-6 pubmed publisher
    ..Recent genetic studies have identified RNF213 as an important susceptibility gene for MMD...
  53. Moteki Y, Onda H, Kasuya H, Yoneyama T, Okada Y, Hirota K, et al. Systematic Validation of RNF213 Coding Variants in Japanese Patients With Moyamoya Disease. J Am Heart Assoc. 2015;4: pubmed publisher
    A founder variant of RNF213, p.R4810K (c.14429G>A, rs112735431), was recently identified as a major genetic risk factor for moyamoya disease (MMD) in Japan. Although the association of p...
  54. Wang X, Zhang Z, Liu W, Xiong Y, Sun W, Huang X, et al. Impacts and interactions of PDGFRB, MMP-3, TIMP-2, and RNF213 polymorphisms on the risk of Moyamoya disease in Han Chinese human subjects. Gene. 2013;526:437-42 pubmed publisher
    Polymorphisms of PDGFRB, MMP-3, TIMP-2, RNF213, TGFB1, Raptor and eNOS genes have been associated with Moyamoya disease (MMD) separately in studies, but their interactions on MMD have never been evaluated in one study...
  55. Morimoto T, Mineharu Y, Ono K, Nakatochi M, Ichihara S, Kabata R, et al. Significant association of RNF213 p.R4810K, a moyamoya susceptibility variant, with coronary artery disease. PLoS ONE. 2017;12:e0175649 pubmed publisher
    ..Because most Japanese patients with moyamoya disease carry the p.R4810K variant of the ring finger 213 gene (RNF213), this may also be a risk factor for coronary artery disease; however, this possibility has never been tested...
  56. Morito D, Nishikawa K, Hoseki J, Kitamura A, Kotani Y, Kiso K, et al. Moyamoya disease-associated protein mysterin/RNF213 is a novel AAA+ ATPase, which dynamically changes its oligomeric state. Sci Rep. 2014;4:4442 pubmed publisher
    ..We recently identified mysterin/RNF213 as its first susceptibility gene, which encodes a 591-kDa protein containing enzymatically active P-loop ..
  57. Kim E, Yum M, Ra Y, Park J, Ahn J, Kim G, et al. Importance of RNF213 polymorphism on clinical features and long-term outcome in moyamoya disease. J Neurosurg. 2016;124:1221-7 pubmed publisher
    ..In the pathogenesis of MMD, the important role of genetic factors is being elucidated, and RNF213 has recently been identified as a susceptibility gene for MMD...
  58. Miyawaki S, Imai H, Shimizu M, Yagi S, Ono H, Nakatomi H, et al. Genetic Analysis of RNF213 c.14576G>A Variant in Nonatherosclerotic Quasi-Moyamoya Disease. J Stroke Cerebrovasc Dis. 2015;24:1075-9 pubmed publisher
    ..Recently, we have reported that the recently identified MMD susceptibility gene variant RNF213 c.14576G>A (rs112735431) was associated with atherosclerotic intracranial major artery stenosis/occlusion...
  59. Guey S, Kraemer M, Herve D, Ludwig T, Kossorotoff M, Bergametti F, et al. Rare RNF213 variants in the C-terminal region encompassing the RING-finger domain are associated with moyamoya angiopathy in Caucasians. Eur J Hum Genet. 2017;25:995-1003 pubmed publisher
    ..In East Asian countries, moyamoya is strongly associated to the R4810K variant in the RNF213 gene that encodes for a protein containing a RING-finger and two AAA+ domains...
  60. Banh R, Iorio C, Marcotte R, Xu Y, Cojocari D, Rahman A, et al. PTP1B controls non-mitochondrial oxygen consumption by regulating RNF213 to promote tumour survival during hypoxia. Nat Cell Biol. 2016;18:803-813 pubmed publisher
    ..The moyamoya disease gene product RNF213, an E3 ligase, is negatively regulated by PTP1B in HER2(+) BC cells...
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    The c.14576G>A variant in ring finger protein 213 (RNF213) was recently identified as a susceptibility gene variant for moyamoya disease (MMD). The occurrence of c...
  62. Matsuda Y, Mineharu Y, Kimura M, Takagi Y, Kobayashi H, Hitomi T, et al. RNF213 p.R4810K Variant and Intracranial Arterial Stenosis or Occlusion in Relatives of Patients with Moyamoya Disease. J Stroke Cerebrovasc Dis. 2017;26:1841-1847 pubmed publisher
    This study aimed to determine the effectiveness of genetic testing for the p.R4810K variant (rs112735431) of the Mysterin/RNF213 gene, which is associated with moyamoya disease and other intracranial vascular diseases, in the family ..
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    Recently, we reported a common genetic variant, ring finger protein 213 (RNF213) c...
  65. Bang O, Chung J, Kim S, Oh M, Kim S, Cho Y, et al. Caveolin-1, Ring finger protein 213, and endothelial function in Moyamoya disease. Int J Stroke. 2016;11:999-1008 pubmed
    Moyamoya disease is a unique cerebrovascular occlusive disease of unknown etiology. Ring finger protein 213 (RNF213) was identified as a susceptibility gene for Moyamoya disease in East Asian countries...
  66. Park M, Shin J, Lee S, Park H, Park K. RNF213 rs112735431 polymorphism in intracranial artery steno-occlusive disease and moyamoya disease in Koreans. J Neurol Sci. 2017;375:331-334 pubmed publisher
    The rs112735431 polymorphism of the RNF213, a susceptibility variant for moyamoya disease (MMD), may be associated with non-MMD intracranial artery steno-occlusive disease of non-MMD type (non-MMD ICAD) in Asian...
  67. Cools J, Wlodarska I, Somers R, Mentens N, Pedeutour F, Maes B, et al. Identification of novel fusion partners of ALK, the anaplastic lymphoma kinase, in anaplastic large-cell lymphoma and inflammatory myofibroblastic tumor. Genes Chromosomes Cancer. 2002;34:354-62 pubmed
    ..of the CLTC-ALK fusion in an ALCL case and to the identification of two novel fusion partners of ALK: ALO17 (KIAA1618), a gene with unknown function, which was fused to ALK in an ALCL case with a t(2;17)(p23;q25), and CARS, ..
  68. Kobayashi H, Brozman M, Kyselová K, Viszlayová D, Morimoto T, Roubec M, et al. RNF213 Rare Variants in Slovakian and Czech Moyamoya Disease Patients. PLoS ONE. 2016;11:e0164759 pubmed publisher
    RNF213/Mysterin has been identified as a susceptibility gene for moyamoya disease, a cerebrovascular disease characterized by occlusive lesions in the circle of Willis. The p...
  69. Zhang T, Guo C, Liao X, Xia J, Wang X, Deng J, et al. Genetic analysis of RNF213 p.R4810K variant in non-moyamoya intracranial artery stenosis/occlusion disease in a Chinese population. Environ Health Prev Med. 2017;22:41 pubmed publisher
    b>RNF213 p.R4810K was identified as a susceptibility variant for moyamoya disease in Asia and non-moyamoya intracranial artery stenosis/occlusion disease in Japan and Korea recently...
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    ..This resulted in the highly confident identification of 274 phosphorylation sites from 305 unique phosphopeptides corresponding to 168 proteins at false discovery rate (FDR) of 0.96%. ..
  71. Cecchi A, Guo D, Ren Z, Flynn K, Santos Cortez R, Leal S, et al. RNF213 rare variants in an ethnically diverse population with Moyamoya disease. Stroke. 2014;45:3200-7 pubmed publisher
    ..A variant in the Ring Finger 213 gene (RNF213), altering arginine at position 4810 (p.R4810K), is associated with MMD in Asian populations...
  72. Zhou S, Ambalavanan A, Rochefort D, Xie P, Bourassa C, Hince P, et al. RNF213 Is Associated with Intracranial Aneurysms in the French-Canadian Population. Am J Hum Genet. 2016;99:1072-1085 pubmed publisher
    ..FC families affected by IA, and the analysis revealed an increased variation burden for ring finger protein 213 (RNF213)...
  73. Dephoure N, Zhou C, Villen J, Beausoleil S, Bakalarski C, Elledge S, et al. A quantitative atlas of mitotic phosphorylation. Proc Natl Acad Sci U S A. 2008;105:10762-7 pubmed publisher
    ..Analysis of non-proline site-containing phosphopeptides identified two unique motifs that suggest there are at least two undiscovered mitotic kinases. ..
  74. Rajkumar A, Christensen J, Mattheisen M, Jacobsen I, Bache I, Pallesen J, et al. Analysis of t(9;17)(q33.2;q25.3) chromosomal breakpoint regions and genetic association reveals novel candidate genes for bipolar disorder. Bipolar Disord. 2015;17:205-11 pubmed publisher
    ..protein-coding genes [coding for (endonuclease V (ENDOV), neuronal pentraxin I (NPTX1), ring finger protein 213 (RNF213), and regulatory-associated protein of mammalian target of rapamycin (mTOR) (RPTOR)] were found to be located ..
  75. Ohkubo K, Sakai Y, Inoue H, Akamine S, Ishizaki Y, Matsushita Y, et al. Moyamoya disease susceptibility gene RNF213 links inflammatory and angiogenic signals in endothelial cells. Sci Rep. 2015;5:13191 pubmed publisher
    ..Allelic variations in RNF213 are known to confer the risk of MMD; however, functional roles of RNF213 remain to be largely elusive...
  76. Choudhary C, Kumar C, Gnad F, Nielsen M, Rehman M, Walther T, et al. Lysine acetylation targets protein complexes and co-regulates major cellular functions. Science. 2009;325:834-40 pubmed publisher
    ..Our data demonstrate that the regulatory scope of lysine acetylation is broad and comparable with that of other major posttranslational modifications. ..
  77. Ma J, Liu Y, Ma L, Huang S, Li H, You C. RNF213 polymorphism and Moyamoya disease: A systematic review and meta-analysis. Neurol India. 2013;61:35-9 pubmed publisher
    Recent genome-wide and locus-specific association studies identified RNF213 as an important Moyamoya disease (MMD) susceptibility gene...
  78. Kiando S, Barlassina C, Cusi D, Galan P, Lathrop M, Plouin P, et al. Exome sequencing in seven families and gene-based association studies indicate genetic heterogeneity and suggest possible candidates for fibromuscular dysplasia. J Hypertens. 2015;33:1802-10; discussion 1810 pubmed publisher
    ..003), dynein cytoplasmic heavy chain 1 (DYNC2H1, P = 0.02) and RNF213 previously associated with Moyamoya disease (P = 0.01)...
  79. Chang S, Song J, Park T, Yang J, Kwon W, Kim S, et al. Nonsyndromic Peripheral Pulmonary Artery Stenosis Is Associated With Homozygosity of RNF213 p.Arg4810Lys Regardless of Co-occurrence of Moyamoya Disease. Chest. 2017;: pubmed publisher
    ..Arg4810Lys variant of the RNF213 gene...
  80. Hitomi T, Habu T, Kobayashi H, Okuda H, Harada K, Osafune K, et al. Downregulation of Securin by the variant RNF213 R4810K (rs112735431, G>A) reduces angiogenic activity of induced pluripotent stem cell-derived vascular endothelial cells from moyamoya patients. Biochem Biophys Res Commun. 2013;438:13-9 pubmed publisher
    Moyamoya disease (MMD) is a cerebrovascular disease characterized by occlusive lesions in the circle of Willis. The RNF213 R4810K polymorphism increases susceptibility to MMD...
  81. Kobayashi H, Matsuda Y, Hitomi T, Okuda H, Shioi H, Matsuda T, et al. Biochemical and Functional Characterization of RNF213 (Mysterin) R4810K, a Susceptibility Mutation of Moyamoya Disease, in Angiogenesis In Vitro and In Vivo. J Am Heart Assoc. 2015;4: pubmed publisher
    P.R4810K of RNF213 (mysterin: rs112735431), which is an AAA(+) ATPase, is the susceptibility polymorphism for moyamoya disease (MMD) in East Asians. However, the role of RNF213 R4810K in the etiology of MMD is unknown...
  82. Kohutek Z, Rosati L, Hong J, Poling J, Attiyeh M, Makohon Moore A, et al. An unusual genomic variant of pancreatic ductal adenocarcinoma with an indolent clinical course. Cold Spring Harb Mol Case Stud. 2017;3: pubmed publisher
    ..Whole-exome and whole-genome sequencing identified a somatic mutation of RNF213 and an inversion/deletion of CTNNA2 as the genetic basis of his PDA...
  83. Schilter K, Steiner J, Demos W, Maheshwari M, Prokop J, Worthey E, et al. RNF213 variants in a child with PHACE syndrome and moyamoya vasculopathy. Am J Med Genet A. 2017;173:2557-2561 pubmed publisher
    ..Whole exome sequencing demonstrated two inherited heterozygous variants in RNF213. Variants in RNF213 are associated with increased susceptibility to MMV...
  84. Koizumi A, Kobayashi H, Liu W, Fujii Y, Senevirathna S, Nanayakkara S, et al. P.R4810K, a polymorphism of RNF213, the susceptibility gene for moyamoya disease, is associated with blood pressure. Environ Health Prev Med. 2013;18:121-9 pubmed publisher
    Moyamoya disease-an idiopathic vascular disorder of intracranial arteries-is often accompanied by hypertension. RNF213 has been identified as a susceptibility gene for moyamoya disease. In the present study, the association of p...
  85. Sato Maeda M, Fujimura M, Rashad S, Morita Fujimura Y, Niizuma K, Sakata H, et al. 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;26:1904-1911 pubmed publisher
    The RING finger protein 213 (RNF213) is an important susceptibility gene for moyamoya disease (MMD) and is also implicated in other types of intracranial major artery stenosis/occlusion (ICAS); however, the role of RNF213 in the ..
  86. Phi J, Choi J, Seong M, Kim T, Moon Y, Lee J, et al. Association between moyamoya syndrome and the RNF213 c.14576G>A variant in patients with neurofibromatosis Type 1. J Neurosurg Pediatr. 2016;17:717-22 pubmed publisher
    ..Polymorphism of the RNF213 gene has exhibited strong associations with familial and sporadic moyamoya disease and other cerebral ..
  87. Park Y, An H, Kim J, Kim W, Han I, Kim O, et al. The Role of RNF213 4810G>A and 4950G>A Variants in Patients with Moyamoya Disease in Korea. Int J Mol Sci. 2017;18: pubmed publisher
    Although a founder variant of RNF213 4810G>A is a major genetic risk factor for moyamoya disease (MMD) in East Asians, the frequency and disease susceptibility of RNF213 variants remain largely unknown...
  88. Ma Y, Zhang Q, Yu L, Zhao J. Role of Ring Finger Protein 213 in Moyamoya Disease. Chin Med J (Engl). 2016;129:2497-2501 pubmed publisher
    ..this study was to help people comprehensively understand the research advances related to ring finger protein 213 (RNF213) in moyamoya disease (MMD) and to understand the disease at the molecular level to provide a new perspective of ..
  89. Liao X, Deng J, Dai W, Zhang T, Yan J. Rare variants of RNF213 and moyamoya/non-moyamoya intracranial artery stenosis/occlusion disease risk: a meta-analysis and systematic review. Environ Health Prev Med. 2017;22:75 pubmed publisher
    The p.R4810K and other rare variants of ring finger protein 213 gene (RNF213) were illustrated as susceptibility variants for moyamoya (MMD) and non-moyamoya intracranial artery stenosis/occlusion disease (ICASO) recently...
  90. Moritake H, Shimonodan H, Marutsuka K, Kamimura S, Kojima H, Nunoi H. C-MYC rearrangement may induce an aggressive phenotype in anaplastic lymphoma kinase positive anaplastic large cell lymphoma: Identification of a novel fusion gene ALO17/C-MYC. Am J Hematol. 2011;86:75-8 pubmed publisher
    ..A new fusion between ALO17 (ALK lymphoma oligomerization partner on chromosome 17) and C-MYC was identified by the 50-rapid amplification of cDNA ends...
  91. Lee M, Chen Y, Fan P, Wang K, Wang K, Wang J, et al. Mutation genotypes of RNF213 gene from moyamoya patients in Taiwan. J Neurol Sci. 2015;353:161-5 pubmed publisher
    ..Familial transmission in MMD is common. Recently, mutations in human RNF213 and ACTA2 genes were identified to be responsible for MMD...
  92. Scholz B, Korn C, Wojtarowicz J, Mogler C, Augustin I, Boutros M, et al. Endothelial RSPO3 Controls Vascular Stability and Pruning through Non-canonical WNT/Ca(2+)/NFAT Signaling. Dev Cell. 2016;36:79-93 pubmed publisher
    ..An endothelial screen for RSPO3 and EVI/WLS co-regulated genes identified Rnf213, Usp18, and Trim30α...