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Last Posted: Jan 15, 2025

• Association Between Folate Metabolism Risk, Collateral Circulation, and Hemorrhagic Risk in Moyamoya Disease.
  Junsheng Li, et al. Translational stroke research 2025 0
• HAPLN3 p.T34A contributes to incomplete penetrance of moyamoya disease in Chinese carrying RNF213 p.R4810K.
  Jun Xu, et al. European journal of neurology 2024 0 e16473
• [Genetic Analysis of Cerebrovascular Diseases].
  Satoru Miyawaki, et al. No shinkei geka. Neurological surgery 2024 0 (5) 1057-1081
• Association of rare variants in RNF213 with severe progression of intracranial artery stenosis in quasi-moyamoya disease.
  Seiei Torazawa, et al. Journal of neurosurgery 2024 0 1-10
• RNF213 Mutation Associated with the Progression from Middle Cerebral Artery Steno-Occlusive Disease to Moyamoya Disease.
  Tomoki Sasagasako, et al. Translational stroke research 2024 0
• Moyamoya syndrome after proton beam therapy in a pediatric patient with a pineal germ cell tumor and a germline polymorphism in RNF213.
  Ting-Chun Lin, et al. Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2024 0
• Prevalence of RNF213 rs112735431 Genetic Polymorphism in Non-Cardioembolic Ischemic Cerebrovascular Disease: A Cross-Sectional Study in Thai Patients.
  Suporn Travanichakul, et al. Cerebrovascular diseases extra 2024 0
• RNF213 Polymorphisms in Intracranial Artery Dissection.
  Marialuisa Zedde, et al. Genes 2024 0 (6)
• RNF213 Variants, Vasospastic Angina, and Risk of Fatal Myocardial Infarction.
  Keiko Hikino, et al. JAMA cardiology 2024 0
• Molecular Biomarkers Affecting Moyamoya Disease.
  Yong-Kwang Tu, et al. Advances and technical standards in neurosurgery 2024 0 1-18
• Association of Genetic Variants with Postoperative Donor Artery Development in Moyamoya Disease: RNF213 and Other Moyamoya Angiopathy-Related Gene Analysis.
  Seiei Torazawa, et al. Translational stroke research 2024 0
• Association between polymorphism in the MTHFR gene and encephaloduroarteriosynangiosis-induced collateral circulation formation.
  Gan Gao, et al. Journal of neurosurgery 2024 0 1-9
• RNF213 variant and autophagic impairment: A pivotal link to endothelial dysfunction in moyamoya disease.
  Hee Sun Shin, et al. Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism 2024 0 271678X241245557
• RNF213 in moyamoya disease: Genotype-phenotype association and the underlying mechanism.
  Jianxun Fang, et al. Chinese medical journal 2024 0
• Neuregulin 1 as a potential biomarker for disease progression in moyamoya disease: A case-control study in Chinese population.
  Jie Chen, et al. Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association 2024 0 (3) 107581
• 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.
  Yohei Mineharu, et al. Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association 2023 0 (2) 107513
• Synergistic Interaction of Thyroid Autoantibodies and Ring Finger Protein 213 Variant in Moyamoya Disease.
  Thiparpa Thamamongood, et al. Neurologia medico-chirurgica 2023 0
• De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke.
  Theresa Brunet, et al. Genetics in medicine : official journal of the American College of Medical Genetics 2023 0 101013
• Difference in Clinical Phenotype, Mutation Position, and Structural Change of RNF213 Rare Variants Between Pediatric and Adult Japanese Patients with Moyamoya Disease.
  Shunsuke Nomura, et al. Translational stroke research 2023 0
• Hypertensive disorders of pregnancy in moyamoya disease: A single institution experience.
  Hirohisa Yajima, et al. Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association 2023 0 (11) 107377
• Association of thyroid peroxidase antibody with the RNF213 p.R4810K variant in ischemic stroke/transient ischemic attack.
  Takeshi Yoshimoto, et al. Atherosclerosis 2023 0 117281
• Amplified Risk of Intracranial Artery Stenosis/Occlusion Associated With RNF213 p.R4810K in Familial Hypercholesterolemia.
  Kotaro Noda, et al. JACC. Asia 2023 0 (4) 625-633
• Neurological comorbidities and novel mutations in Turkish cases with neurofibromatosis type 1.
  Evlice Ahmet, et al. Ideggyogyaszati szemle 2023 0 (7-8) 270-274
• Association between DIAPH1 variant and posterior circulation involvement with Moyamoya disease.
  Shihao He, et al. Scientific reports 2023 0 (1) 10732
• Whole-exome sequencing in moyamoya patients of Northern-European origin identifies gene variants involved in Nitric Oxide metabolism: A pilot study.
  Markus K H Wiedmann, et al. Brain & spine 2023 0 101745
• Genome-wide association study identifies novel susceptibilities to adult moyamoya disease.
  Jin Pyeong Jeon, et al. Journal of human genetics 2023 0
• Meta-analysis of the association between RNF213 polymorphisms and clinical features of moyamoya disease in Asian population.
  Xiaolong Jiang, et al. Clinical neurology and neurosurgery 2023 0 107801
• RNF213 p.Arg4810Lys Wild Type is Associated with De Novo Hemorrhage in Asymptomatic Hemispheres with Moyamoya Disease.
  Seiei Torazawa, et al. Translational stroke research 2023 0
• Rare variants in ANO1, encoding a calcium-activated chloride channel, predispose to moyamoya disease.
  Amélie Pinard, et al. Brain : a journal of neurology 2023 0
• Association of RNF213 polymorphism and cortical hyperintensity sign on fluid-attenuated inversion recovery images after revascularization surgery for moyamoya disease: Correspondence.
  Amnuay Kleebayoon, et al. Neurosurgical review 2023 0 (1) 126
• 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.
  Haruto Uchino, et al. Neurosurgical review 2023 0 (1) 119
• A long-term study of posterior circulation changes after revascularization in patients with moyamoya disease.
  Bao Xiang-Yang, et al. Journal of neurosurgery 2023 0 1-6
• Association of rare RNF213 variants and intracranial aneurysm risk in a Chinese population.
  Li Yaqi, et al. Annals of translational medicine 2023 0 (24) 1336
• Circulating Inflammatory Cytokine Associated with Poor Prognosis in Moyamoya Disease: A Prospective Cohort Study.
  Liu Wei, et al. Journal of clinical medicine 2023 0 (3)
• Clinical and Genetic Characteristics of Patients with Moyamoya Disease who Experienced Both Ischemic and Hemorrhagic Events.
  Hirano Yudai, et al. World neurosurgery 2023 0
• Cav-1 (Caveolin-1) and Arterial Remodeling in Adult Moyamoya Disease.
  Chung Jong-Won, et al. Stroke 2018 0 (11) 2597-2604
• Can Moyamoya Disease Susceptibility Gene Affect Extracranial Systemic Artery Stenosis?
  Nomura Shunsuke, et al. Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association 2019 0 (2) 104532
• Postoperative Symptomatic Cerebral Infarction in Pediatric Moyamoya Disease: Risk Factors and Clinical Outcome.
  Choi Jung Won, et al. World neurosurgery 2019 0 e158-e164
• Association Between p.R4810K Variant and Long-Term Clinical Outcome in Patients With Moyamoya Disease.
  Ge Peicong, et al. Frontiers in neurology 2019 0 662
• Poor outcomes in carriers of the RNF213 variant (p.Arg4810Lys) with pulmonary arterial hypertension.
  Hiraide Takahiro, et al. The Journal of heart and lung transplantation : the official publication of the International Society for Heart Transplantation 2019 0 (2) 103-112
• Differing Surgical Outcomes in a Multiethnic Cohort Suggest Racial Phenotypes in Moyamoya Disease.
  Feghali James, et al. World neurosurgery 2019 0 e865-e872
• Prevalence of RNF213 p.R4810K Variant in Early-Onset Stroke With Intracranial Arterial Stenosis.
  Kamimura Teppei, et al. Stroke 2019 0 (6) 1561-1563
• Rare and Low-Frequency Variants in RNF213 Confer Susceptibility to Moyamoya Syndrome Associated with Hyperthyroidism.
  Nomura Shunsuke, et al. World neurosurgery 2019 0 e460-e466
• Vascular tortuosity of the internal carotid artery is related to the RNF213 c.14429G?>?A variant in moyamoya disease.
  An Sungjae, et al. Scientific reports 2019 0 (1) 8614
• Different subtypes of collateral vessels in hemorrhagic moyamoya disease with p.R4810K variant.
  Ge Peicong, et al. BMC neurology 2020 0 (1) 308
• PHACTR1 is associated with disease progression in Chinese Moyamoya disease.
  Yang Yongbo, et al. PeerJ 2020 0 e8841
• Angiographic characteristics in Moyamoya disease with the p.R4810K variant: a propensity score-matched analysis.
  Ge P, et al. European journal of neurology 2020 0 (5) 856-863
• Distribution of Intracranial Major Artery Stenosis/Occlusion According to RNF213 Polymorphisms.
  Kim Jinkwon, et al. International journal of molecular sciences 2020 0 (6)
• Surgical Options and Genetic Screening of a Patient With Moyamoya Disease Harboring the RNF213 p.R4180 K Homozygous Variant.
  Nomura Shunsuke, et al. Journal of child neurology 2020 0 (9) 621-622
• Absence of the RNF213 p.R4810K variant may indicate a severe form of pediatric moyamoya disease in Japanese patients.
  Hara Shoko, et al. Journal of neurosurgery. Pediatrics 2021 0 (1) 48-56
• First Report: Rare RNF213 Variant Associated with Familial Moyamoya Disease in an African American Family.
  Sunmonu N Abimbola, et al. Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association 2021 0 (12) 106123
• RNF213 c.14576G>A Is Associated with Intracranial Internal Carotid Artery Saccular Aneurysms.
  Murai Yasuo, et al. Genes 2021 0 (10)
• Role of RNF213 polymorphism in defining quasi-moyamoya disease and definitive moyamoya disease.
  Ishisaka Eitaro, et al. Neurosurgical focus 2021 0 (3) E2
• Clinical and Genetic Risk Factors of Long-Term Outcomes after Encephaloduroarteriosynangiosis in Moyamoya Disease in China.
  Wang Xiaotong, et al. Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association 2021 0 (7) 105847
• Clinical Usefulness of Genetic Testing For Patients with Moyamoya Disease: A Systematic Review.
  Shlobin Nathan A, et al. World neurosurgery 2021 0 198-205.e1
• Association of De Novo RNF213 Variants With Childhood Onset Moyamoya Disease and Diffuse Occlusive Vasculopathy.
  Pinard Amélie, et al. Neurology 2021 0 (13) e1783-e1791
• Effect of the RNF213 p.R4810K Variant on the Progression of Intracranial Artery Stenosis: A 15-Year Follow-up Study.
  Okazaki Shuhei, et al. Neurology. Genetics 2022 0 (5) e200029
• Impact of RNF213 c.14576G>A Variant on the Development of Direct and Indirect Revascularization in Pediatric Moyamoya Disease.
  Kawabori Masahito, et al. Cerebrovascular diseases (Basel, Switzerland) 2022 0 1-6
• RNF213 R4810K Variant in Suspected Unilateral Moyamoya Disease Predicts Contralateral Progression.
  Ok Taedong, et al. Journal of the American Heart Association 2022 0 (15) e025676
• Characterization of Moyamoya and Middle Cerebral Artery Diseases by Carotid Canal Diameter and RNF213 p.R4810K Genotype.
  Oichi Yuki, et al. Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association 2022 0 (6) 106481
• Moyamoya disease: diagnosis and interventions.
  Ihara Masafumi, et al. The Lancet. Neurology 2022 0 (8) 747-758
• RNF213-Associated Vascular Disease: A Concept Unifying Various Vasculopathies.
  Hiraide Takahiro, et al. Life (Basel, Switzerland) 2022 0 (4)
• The Potential Mechanism Behind Native and Therapeutic Collaterals in Moyamoya.
  Bao Xiang-Yang, et al. Frontiers in neurology 2022 0 861184
• Case Report: A Case of Moyamoya Syndrome Associated With Multiple Endocrine Neoplasia Type 2A.
  Matano Fumihiro, et al. Frontiers in endocrinology 2021 0 703410
• RNF213 Variant Diversity Predisposes Distinct Populations to Dissimilar Cerebrovascular Diseases.
  Lin Jing, et al. BioMed research international 2019 0 6359174
• Thyroid Autoantibodies and the Clinical Presentation of Moyamoya Disease: A Prospective Study.
  Lanterna Luigi A, et al. Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association 2018 0 (5) 1194-1199
• Extension of SKAT to multi-category phenotypes through a geometrical interpretation.
  Bocher Ozvan, et al. European journal of human genetics : EJHG 2021 0 (5) 736-744
• Predictive role of heterozygous p.R4810K of RNF213 in the phenotype of Chinese moyamoya disease.
  Wang Yue, et al. Neurology 2020 0 (7) e678-e686
• Validation of choroidal anastomosis on high-resolution magnetic resonance imaging as an imaging biomarker in hemorrhagic moyamoya disease.
  Wu Fang, et al. European radiology 2021 0 (7) 4548-4556
• Germline genetic mutations in pediatric cerebrovascular anomalies: a multidisciplinary approach to screening, testing, and management.
  Melissa A LoPresti et al. Journal of neurosurgery. Pediatrics 2023 1-9
• [Precision Medicine for Moyamoya Disease].
  Fujimura Miki, et al. No shinkei geka. Neurological surgery 2022 0 (1) 216-221
• RNF213 p.R4810K Variant Carriers with Intracranial Arterial Stenosis Have a Low Atherosclerotic Burden.
  Ohara Mariko, et al. Journal of atherosclerosis and thrombosis 2021 0 (11) 1655-1662
• Moyamoya Disease Associated with a Deficiency of Complement Component 6.
  Kato Masaru, et al. Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association 2022 6 (8) 106601
• Impact of RNF213 founder polymorphism (p.R4810K) on the postoperative development of indirect pial synangiosis after direct/indirect combined revascularization surgery for adult Moyamoya disease.
  Ito Masaki, et al. Neurosurgical review 2022 2
• Deep Learning in the Management of Intracranial Aneurysms and Cerebrovascular Diseases: A Review of the Current Literature.
  Mensah Emmanuel et al. World neurosurgery 2022
• Whole-body MRI evaluation in neurofibromatosis type 1 patients younger than 3 years old and the genetic contribution to disease progression.
  Kang Eungu et al. Orphanet journal of rare diseases 2022 17(1) 24
• The association between the Moyamoya disease susceptible gene RNF213 variant and incident cardiovascular disease in a general population: the Nagahama study.
  Tabara Yasuharu, et al. Journal of hypertension 2021 12 (12) 2521-2526
• Association between RNF213 c.14576G>A Variant (rs112735431) and Peripheral Pulmonary Artery Stenosis in Moyamoya Disease.
  Ozaki Dan, et al. Cerebrovascular diseases (Basel, Switzerland) 2021 10 1-6
• RNF213 p.Arg4810Lys Heterozygosity in Moyamoya Disease Indicates Early Onset and Bilateral Cerebrovascular Events.
  Ishigami Daiichiro, et al. Translational stroke research 2021 10
• Association of HLA-DQA2 and HLA-B With Moyamoya Disease in the Chinese Han Population.
  Wan Jiang, et al. Neurology. Genetics 2021 6 (3) e592
• RNF213 rare variants and cerebral arteriovenous malformation in a Chinese population.
  Liu Junyu, et al. Clinical neurology and neurosurgery 2021 4 106582
• Association of genetic variants of RNF213 with ischemic stroke risk in Koreans.
  Park Young Seok, et al. Genes & genomics 2021 2
• Higher susceptibility to heme oxidation and lower protein stability of the rare aC517Yß sGC variant associated with moyamoya syndrome.
  Sharina Iraida, et al. Biochemical pharmacology 2021 2 114459
• Prolonged/delayed cerebral hyperperfusion in adult patients with moyamoya disease with RNF213 gene polymorphism c.14576G>A (rs112735431) after superficial temporal artery-middle cerebral artery anastomosis.
  Tashiro Ryosuke, et al. Journal of neurosurgery 2020 10 1-8
• Observation of p.R4810K, a Polymorphism of the Mysterin Gene, the Susceptibility Gene for Moyamoya Disease, in Two Female Japanese Diabetic Patients with Familial Partial Lipodystrophy 1.
  Iwanishi Masanori, et al. Internal medicine (Tokyo, Japan) 2020 0 (20) 2529-2537
• Familial Risk for Moyamoya Disease Among First-Degree Relatives, Based on a Population-Based Aggregation Study in Korea.
  Ahn Hyeong Sik et al. Stroke 2020 Aug STROKEAHA120029251
• RNF213 gene polymorphism rs9916351 and rs8074015 significantly associated with moyamoya disease in Chinese population.
  Zhu Bin, et al. Annals of translational medicine 2020 7 (14) 851
• Comprehensive investigation of RNF213 nonsynonymous variants associated with intracranial artery stenosis.
  Hongo Hiroki, et al. Scientific reports 2020 7 (1) 11942
• Association of Genetic Variants With Moyamoya Disease in 13 000 Individuals: A Meta-Analysis.
  Wang Xiaotong, et al. Stroke 2020 5 STROKEAHA120029527
• Novel missense variants in the RNF213 gene from a European family with Moyamoya disease.
  Gagunashvili Andrey N, et al. Human genome variation 2019 0 35
• Identification of HLA-DRB1*04:10 allele as risk allele for Japanese moyamoya disease and its association with autoimmune thyroid disease: A case-control study.
  Tashiro Ryosuke, et al. PloS one 2019 0 (8) e0220858
• Increased serum production of soluble CD163 and CXCL5 in patients with moyamoya disease: Involvement of intrinsic immune reaction in its pathogenesis.
  Fujimura Miki, et al. Brain research 2018 0 39-44
• The Association of the RNF213 p.R4810K Polymorphism with Quasi-Moyamoya Disease and a Review of the Pertinent Literature.
  Zhang Qian, et al. World neurosurgery 2017 3 701-708.e1
• RNF213 as the major susceptibility gene for Chinese patients with moyamoya disease and its clinical relevance.
  Zhang Qian, et al. Journal of neurosurgery 2017 4 (4) 1106-1113
• Genetic analysis of ring finger protein 213 (RNF213) c.14576G>A polymorphism in patients with vertebral artery dissection: a comparative study with moyamoya disease.
  Tashiro Ryosuke, et al. Neurological research 2019 5 1-6
• Genotype-Phenotype Correlation in Long-Term Cohort of Japanese Patients with Moyamoya Disease.
  Nomura Shunsuke, et al. Cerebrovascular diseases (Basel, Switzerland) 2019 4 1-7
• Association of CD40 SNPs with Moyamoya in a Chinese children population.
  Shen Wenjun, et al. British journal of neurosurgery 2019 1 1-4
• GEN-O-MA project: an Italian network studying clinical course and pathogenic pathways of moyamoya disease-study protocol and preliminary results.
  Bersano Anna et al. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2019 Jan
• The association between the ring finger protein 213 gene R4810K variant and intracranial major artery stenosis/occlusion in the Han Chinese population and high-resolution magnetic resonance imaging findings.
  Xue Sufang, et al. Brain circulation 0 0 (1) 33-39
• Whole exome sequencing identifies MRVI1 as a susceptibility gene for moyamoya syndrome in neurofibromatosis type 1.
  Santoro Claudia, et al. PloS one 2018 0 (7) e0200446

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