BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

130 related articles for article (PubMed ID: 37924258)

  • 1. De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke.
    Brunet T; Zott B; Lieftüchter V; Lenz D; Schmidt A; Peters P; Kopajtich R; Zaddach M; Zimmermann H; Hüning I; Ballhausen D; Staufner C; Bianzano A; Hughes J; Taylor RW; McFarland R; Devlin A; Mihaljević M; Barišić N; Rohlfs M; Wilfling S; Sondheimer N; Hewson S; Marinakis NM; Kosma K; Traeger-Synodinos J; Elbracht M; Begemann M; Trepels-Kottek S; Hasan D; Scala M; Capra V; Zara F; van der Ven AT; Driemeyer J; Apitz C; Krämer J; Strong A; Hakonarson H; Watson D; Mayr JA; Prokisch H; Meitinger T; Borggraefe I; Spiegler J; Baric I; Paolini M; Gerstl L; Wagner M
    Genet Med; 2024 Feb; 26(2):101013. PubMed ID: 37924258
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Mystery(n) Phenotypic Presentation in Europeans: Report of Three Further Novel Missense
    Santoro C; Mirone G; Zanobio M; Ranucci G; D'Amico A; Cicala D; Iascone M; Bernardo P; Piccolo V; Ronchi A; Limongelli G; Carotenuto M; Nigro V; Cinalli G; Piluso G
    Int J Mol Sci; 2022 Aug; 23(16):. PubMed ID: 36012218
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A new syndrome of moyamoya disease, kidney dysplasia, aminotransferase elevation, and skin disease associated with de novo variants in RNF213.
    Strong A; O'Grady G; Shih E; Bishop JR; Loomes K; Diamond T; Hartung EA; Wong W; Cuddapah S; Cahill AM; Hou C; Slater D; Vaccaro C; Watson D; Li D; Hakonarson H
    Am J Med Genet A; 2021 Jul; 185(7):2168-2174. PubMed ID: 33960657
    [TBL] [Abstract][Full Text] [Related]  

  • 4. RNF213 as the major susceptibility gene for Chinese patients with moyamoya disease and its clinical relevance.
    Zhang Q; Liu Y; Zhang D; Wang R; Zhang Y; Wang S; Yu L; Lu C; Liu F; Zhou J; Zhang X; Zhao J
    J Neurosurg; 2017 Apr; 126(4):1106-1113. PubMed ID: 27128593
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Moyamoya disease factor RNF213 is a giant E3 ligase with a dynein-like core and a distinct ubiquitin-transfer mechanism.
    Ahel J; Lehner A; Vogel A; Schleiffer A; Meinhart A; Haselbach D; Clausen T
    Elife; 2020 Jun; 9():. PubMed ID: 32573437
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Rare and Low-Frequency Variants in RNF213 Confer Susceptibility to Moyamoya Syndrome Associated with Hyperthyroidism.
    Nomura S; Akagawa H; Yamaguchi K; Ishikawa T; Kawashima A; Kasuya H; Mukawa M; Nariai T; Maehara T; Okada Y; Kawamata T
    World Neurosurg; 2019 Jul; 127():e460-e466. PubMed ID: 30922903
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Early onset of moyamoya syndrome in a Down syndrome patient with the genetic variant RNF213 p.R4810K.
    Chong PF; Ogata R; Kobayashi H; Koizumi A; Kira R
    Brain Dev; 2015 Sep; 37(8):822-4. PubMed ID: 25547042
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Identification of RNF213 as a susceptibility gene for moyamoya disease and its possible role in vascular development.
    Liu W; Morito D; Takashima S; Mineharu Y; Kobayashi H; Hitomi T; Hashikata H; Matsuura N; Yamazaki S; Toyoda A; Kikuta K; Takagi Y; Harada KH; Fujiyama A; Herzig R; Krischek B; Zou L; Kim JE; Kitakaze M; Miyamoto S; Nagata K; Hashimoto N; Koizumi A
    PLoS One; 2011; 6(7):e22542. PubMed ID: 21799892
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Absence of the RNF213 p.R4810K variant may indicate a severe form of pediatric moyamoya disease in Japanese patients.
    Hara S; Mukawa M; Akagawa H; Thamamongood T; Inaji M; Tanaka Y; Maehara T; Kasuya H; Nariai T
    J Neurosurg Pediatr; 2022 Jan; 29(1):48-56. PubMed ID: 34624841
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Moyamoya disease patient mutations in the RING domain of RNF213 reduce its ubiquitin ligase activity and enhance NFκB activation and apoptosis in an AAA+ domain-dependent manner.
    Takeda M; Tezuka T; Kim M; Choi J; Oichi Y; Kobayashi H; Harada KH; Mizushima T; Taketani S; Koizumi A; Youssefian S
    Biochem Biophys Res Commun; 2020 May; 525(3):668-674. PubMed ID: 32139119
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A new horizon of moyamoya disease and associated health risks explored through RNF213.
    Koizumi A; Kobayashi H; Hitomi T; Harada KH; Habu T; Youssefian S
    Environ Health Prev Med; 2016 Mar; 21(2):55-70. PubMed ID: 26662949
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Importance of RNF213 polymorphism on clinical features and long-term outcome in moyamoya disease.
    Kim EH; Yum MS; Ra YS; Park JB; Ahn JS; Kim GH; Goo HW; Ko TS; Yoo HW
    J Neurosurg; 2016 May; 124(5):1221-7. PubMed ID: 26430847
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Association of
    Xue Y; Zeng C; Ge P; Liu C; Li J; Zhang Y; Zhang D; Zhang Q; Zhao J
    Stroke; 2022 Sep; 53(9):2906-2916. PubMed ID: 35543128
    [TBL] [Abstract][Full Text] [Related]  

  • 14. RNF213 Rare Variants in Slovakian and Czech Moyamoya Disease Patients.
    Kobayashi H; Brozman M; Kyselová K; Viszlayová D; Morimoto T; Roubec M; Školoudík D; Petrovičová A; Juskanič D; Strauss J; Halaj M; Kurray P; Hranai M; Harada KH; Inoue S; Yoshida Y; Habu T; Herzig R; Youssefian S; Koizumi A
    PLoS One; 2016; 11(10):e0164759. PubMed ID: 27736983
    [TBL] [Abstract][Full Text] [Related]  

  • 15. RNF213 rare variants in an ethnically diverse population with Moyamoya disease.
    Cecchi AC; Guo D; Ren Z; Flynn K; Santos-Cortez RL; Leal SM; Wang GT; Regalado ES; Steinberg GK; Shendure J; Bamshad MJ; ; Grotta JC; Nickerson DA; Pannu H; Milewicz DM
    Stroke; 2014 Nov; 45(11):3200-7. PubMed ID: 25278557
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Association of De Novo
    Pinard A; Fiander MDJ; Cecchi AC; Rideout AL; Azouz M; Fraser SM; McNeely PD; Walling S; Novara SC; Hurst ACE; Guo D; Parkash S; Bamshad MJ; Nickerson DA; Vandersteen AM; Milewicz DM
    Neurology; 2021 Mar; 96(13):e1783-e1791. PubMed ID: 33568546
    [TBL] [Abstract][Full Text] [Related]  

  • 17. The Role of RNF213 4810G>A and 4950G>A Variants in Patients with Moyamoya Disease in Korea.
    Park YS; An HJ; Kim JO; Kim WS; Han IB; Kim OJ; Kim NK; Kim DS
    Int J Mol Sci; 2017 Nov; 18(11):. PubMed ID: 29160859
    [TBL] [Abstract][Full Text] [Related]  

  • 18. De Novo Development of Moyamoya Disease after Stereotactic Radiosurgery for Brain Arteriovenous Malformation in a Patient With RNF213 p.Arg4810Lys (rs112735431).
    Torazawa S; Miyawaki S; Shinya Y; Kawashima M; Hasegawa H; Dofuku S; Uchikawa H; Kin T; Shin M; Nakatomi H; Saito N
    World Neurosurg; 2020 Aug; 140():276-282. PubMed ID: 32434013
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Meta-analysis of the association between RNF213 polymorphisms and clinical features of moyamoya disease in Asian population.
    Jiang X; Liu L; Ai S; Xie X; Deng J; Jiang Z; Teng B; Liu C; Huang H
    Clin Neurol Neurosurg; 2023 Aug; 231():107801. PubMed ID: 37267801
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Rare RNF213 variants in the C-terminal region encompassing the RING-finger domain are associated with moyamoya angiopathy in Caucasians.
    Guey S; Kraemer M; Hervé D; Ludwig T; Kossorotoff M; Bergametti F; Schwitalla JC; Choi S; Broseus L; Callebaut I; Genin E; Tournier-Lasserve E;
    Eur J Hum Genet; 2017 Aug; 25(8):995-1003. PubMed ID: 28635953
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.