RNF213 variant and autophagic impairment: A pivotal link to endothelial dysfunction in moyamoya disease. | RNF213 variant and autophagic impairment: A pivotal link to endothelial dysfunction in moyamoya disease. Shin HS, Park GH, Choi ES, Park SY, Kim DS, Chang J, Hong JM., | 10/25/2024 |
Prevalence of RNF213 rs112735431 Genetic Polymorphism in Non-Cardioembolic Ischemic Cerebrovascular Disease: A Cross-Sectional Study in Thai Patients. | Prevalence of RNF213 rs112735431 Genetic Polymorphism in Non-Cardioembolic Ischemic Cerebrovascular Disease: A Cross-Sectional Study in Thai Patients. Travanichakul S, Chutinet A, Kijpaisalratana N, Snabboon T, Houngngam N, Suwanwela NC., Free PMC Article | 10/10/2024 |
Identification of RNF213 as a Potential Suppressor of Local Invasion in Intrahepatic Cholangiocarcinoma. | Identification of RNF213 as a Potential Suppressor of Local Invasion in Intrahepatic Cholangiocarcinoma. Chiablaem K, Jinawath A, Nuanpirom J, Arora JK, Nasaree S, Thanomchard T, Singhto N, Chittavanich P, Suktitipat B, Charoensawan V, Chairoungdua A, Jinn-Chyuan Sheu J, Kiyotani K, Svasti J, Nakamura Y, Jinawath N. | 08/19/2024 |
RNF213 p.Arg4810Lys Wild Type is Associated with De Novo Hemorrhage in Asymptomatic Hemispheres with Moyamoya Disease. | RNF213 p.Arg4810Lys Wild Type is Associated with De Novo Hemorrhage in Asymptomatic Hemispheres with Moyamoya Disease. Torazawa S, Miyawaki S, Imai H, Hongo H, Ishigami D, Shimizu M, Ono H, Shinya Y, Sato D, Sakai Y, Umekawa M, Kiyofuji S, Shimada D, Koizumi S, Komura D, Katoh H, Ishikawa S, Nakatomi H, Teraoka A, Saito N., Free PMC Article | 07/30/2024 |
RNF213 Polymorphisms in Intracranial Artery Dissection. | RNF213 Polymorphisms in Intracranial Artery Dissection. Zedde M, Grisendi I, Assenza F, Napoli M, Moratti C, Pavone C, Bonacini L, Di Cecco G, D'Aniello S, Stoenoiu MS, Persu A, Valzania F, Pascarella R., Free PMC Article | 06/27/2024 |
Knockdown the moyamoya disease susceptibility gene, RNF213, upregulates the expression of basic fibroblast growth factor and matrix metalloproteinase-9 in bone marrow derived mesenchymal stem cells. | Knockdown the moyamoya disease susceptibility gene, RNF213, upregulates the expression of basic fibroblast growth factor and matrix metalloproteinase-9 in bone marrow derived mesenchymal stem cells. Li Z, Liu Y, Li X, Yang S, Feng S, Li G, Jin F, Nie S. | 06/6/2024 |
Different phenotypes of moyamoya disease in a Chinese familial case involving heterozygous c.14429G>a variant in RNF213. | Different phenotypes of moyamoya disease in a Chinese familial case involving heterozygous c.14429G>a variant in RNF213. Li F, Huang YY, Zhang S, Wang W. | 03/21/2024 |
De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke. | 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. | 02/9/2024 |
RNF213 inhibits migration in lung adenocarcinoma cell. | RNF213 inhibits migration in lung adenocarcinoma cell. Liu X, Zeng H, Li Z, Wei C, Zhang Z, Liu X, Chen N. | 02/2/2024 |
Posterior cerebral artery involvement in unilateral moyamoya disease is exclusively ipsilateral and influenced by RNF213 mutation gene dose: The SUPRA Japan study: PCA involvement in unilateral moyamoya. | Posterior cerebral artery involvement in unilateral moyamoya disease is exclusively ipsilateral and influenced by RNF213 mutation gene dose: The SUPRA Japan study: PCA involvement in unilateral moyamoya. Mineharu Y, Takagi Y, Koizumi A, Morimoto T, Funaki T, Hishikawa T, Araki Y, Hasegawa H, Takahashi JC, Kuroda S, Houkin K, Miyamoto S, SUPRA Japan Study Group. | 01/29/2024 |
Synergistic Interaction of Thyroid Autoantibodies and Ring Finger Protein 213 Variant in Moyamoya Disease. | Synergistic Interaction of Thyroid Autoantibodies and Ring Finger Protein 213 Variant in Moyamoya Disease. Thamamongood T, Hara S, Akagawa H, Inaji M, Tanaka Y, Nariai T, Maehara T., Free PMC Article | 01/16/2024 |
Arg4810Lys mutation in RNF213 among Eastern Indian non-MMD ischemic stroke patients: a genotype-phenotype correlation. | Arg4810Lys mutation in RNF213 among Eastern Indian non-MMD ischemic stroke patients: a genotype-phenotype correlation. Sadhukhan D, Mitra P, Mishra S, Roy A, Podder G, Ray BK, Biswas A, Hui SP, Banerjee TK, Biswas A. | 01/8/2024 |
Genome-wide and targeted CRISPR screens identify RNF213 as a mediator of interferon gamma-dependent pathogen restriction in human cells. | Genome-wide and targeted CRISPR screens identify RNF213 as a mediator of interferon gamma-dependent pathogen restriction in human cells. Matta SK, Kohio HP, Chandra P, Brown A, Doench JG, Philips JA, Ding S, Sibley LD., Free PMC Article | 01/4/2024 |
Detailed phenotype of RNF213 p.R4810K variant identified by the Chinese patients with acute ischaemic stroke or transient ischaemic attack. | Detailed phenotype of RNF213 p.R4810K variant identified by the Chinese patients with acute ischaemic stroke or transient ischaemic attack. Zhou H, Jing J, Pu Y, Li W, Meng X, Wang A, Zuo Y, Xu Z, Xu Q, Suo Y, Li H, Wang Y., Free PMC Article | 01/3/2024 |
RNF213 loss-of-function promotes pathological angiogenesis in moyamoya disease via the Hippo pathway. | RNF213 loss-of-function promotes pathological angiogenesis in moyamoya disease via the Hippo pathway. Ye F, Niu X, Liang F, Dai Y, Liang J, Li J, Wu X, Zheng H, Qi T, Sheng W., Free PMC Article | 11/13/2023 |
Clinical characteristics and intracranial arterial lesions of non-young adult ischemic stroke patients with RNF213 p.R4810K variant. | Clinical characteristics and intracranial arterial lesions of non-young adult ischemic stroke patients with RNF213 p.R4810K variant. Ogura S, Ohara T, Tanaka E, Ashida S, Maezono-Kandori K, Hanya M, Mizuta I, Mizuno T. | 09/28/2023 |
Meta-analysis of the association between RNF213 polymorphisms and clinical features of moyamoya disease in Asian population. | 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. | 08/9/2023 |
Association of RNF213 polymorphism and cortical hyperintensity sign on fluid-attenuated inversion recovery images after revascularization surgery for moyamoya disease: possible involvement of intrinsic vascular vulnerability. | Association of RNF213 polymorphism and cortical hyperintensity sign on fluid-attenuated inversion recovery images after revascularization surgery for moyamoya disease: possible involvement of intrinsic vascular vulnerability. Uchino H, Ito M, Tokairin K, Tatezawa R, Sugiyama T, Kazumata K, Fujimura M. | 05/23/2023 |
Impact of RNF213 c.14576G>A Variant on the Development of Direct and Indirect Revascularization in Pediatric Moyamoya Disease. | Impact of RNF213 c.14576G>A Variant on the Development of Direct and Indirect Revascularization in Pediatric Moyamoya Disease. Kawabori M, Ito M, Kazumata K, Tokairin K, Hatanaka KC, Ishikawa S, Houkin K, Fujimura M., Free PMC Article | 04/28/2023 |
RNF213 modulates gamma-herpesvirus infection and reactivation via targeting the viral Replication and Transcription Activator. | RNF213 modulates γ-herpesvirus infection and reactivation via targeting the viral Replication and Transcription Activator. Tian H, Yu K, He L, Xu H, Han C, Zhang X, Wang X, Zhang X, Zhang L, Gao G, Deng H., Free PMC Article | 03/20/2023 |
RNF213 Loss-of-Function Promotes Angiogenesis of Cerebral Microvascular Endothelial Cells in a Cellular State Dependent Manner. | RNF213 Loss-of-Function Promotes Angiogenesis of Cerebral Microvascular Endothelial Cells in a Cellular State Dependent Manner. Roy V, Brodeur A, Touzel Deschênes L, Dupré N, Gros-Louis F., Free PMC Article | 01/21/2023 |
RNF213 p.R4810K Variant Carriers with Intracranial Arterial Stenosis Have a Low Atherosclerotic Burden. | RNF213 p.R4810K Variant Carriers with Intracranial Arterial Stenosis Have a Low Atherosclerotic Burden. Ohara M, Yoshimoto T, Okazaki S, Gon Y, Todo K, Sasaki T, Takasugi J, Ohara N, Ihara M, Mochizuki H., Free PMC Article | 11/12/2022 |
Interferon-Inducible E3 Ligase RNF213 Facilitates Host-Protective Linear and K63-Linked Ubiquitylation of Toxoplasma gondii Parasitophorous Vacuoles. | Interferon-Inducible E3 Ligase RNF213 Facilitates Host-Protective Linear and K63-Linked Ubiquitylation of Toxoplasma gondii Parasitophorous Vacuoles. Hernandez D, Walsh S, Saavedra Sanchez L, Dickinson MS, Coers J., Free PMC Article | 11/5/2022 |
Mystery(n) Phenotypic Presentation in Europeans: Report of Three Further Novel Missense RNF213 Variants Leading to Severe Syndromic Forms of Moyamoya Angiopathy and Literature Review. | Mystery(n) Phenotypic Presentation in Europeans: Report of Three Further Novel Missense RNF213 Variants Leading to Severe Syndromic Forms of Moyamoya Angiopathy and Literature Review. 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., Free PMC Article | 10/22/2022 |
Association of RNF213 Variants With Periventricular Anastomosis in Moyamoya Disease. | Association of RNF213 Variants With Periventricular Anastomosis in Moyamoya Disease. Xue Y, Zeng C, Ge P, Liu C, Li J, Zhang Y, Zhang D, Zhang Q, Zhao J. | 09/3/2022 |