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1.
Clin Neurol Neurosurg ; 231: 107801, 2023 08.
Artigo em Inglês | MEDLINE | ID: mdl-37267801

RESUMO

BACKGROUND: We performed this study to explore the relationship between ring finger protein 213 (RNF213) gene polymorphisms and clinical features in moyamoya disease (MMD). METHODS: Electronic databases (PubMed, Google Scholar, Embase, Scopus, Cochrane Library) were conducted from inception to May 15th, 2022. Odds ratios (ORs) with 95 % confidence intervals (CIs) were generated as effect size for binary variants. Subgroup analyses were performed by the RNF213 polymorphisms. Sensitivity was used to examine the robustness of associations. RESULTS: A total of 16 articles and 3061 MMD patients were included and the association of five RNF213 polymorphisms on 9 clinical features of MMD were identified. Patients under 18 years of age at onset, familial MMD, cerebral ischemic stroke and posterior cerebral artery involvement (PCi) were significantly more common in mutant type compared with wild type of RNF213. Compared with each wild type, subgroup analysis showed that rs11273543 and rs9916351 remarkably increased risk of MMD on early onset, but rs371441113 evidently delayed the onset of MMD. Rs112735431 in mutant type was significantly higher than wild type in patients with PCi. Subgroup analysis in mutant type showed that rs112735431 conspicuously decreased intracerebral/ intraventricular hemorrhage (ICH/IVH) risk and yet rs148731719 obviously increased the risk in ICH/IVH. CONCLUSION: More attention should be paid to patients on whom the ischemic MMD occurs younger than 18 years old. RNF213 polymorphism screening and cerebrovascular imaging examination should be performed to evaluate intracranial vascular involvement, to achieve early detection and early treatment and avoid more serious cerebrovascular events.


Assuntos
Doença de Moyamoya , Acidente Vascular Cerebral , Adolescente , Humanos , Adenosina Trifosfatases/genética , Hemorragia Cerebral , Predisposição Genética para Doença , Doença de Moyamoya/genética , Polimorfismo de Nucleotídeo Único , Fatores de Transcrição/genética , Ubiquitina-Proteína Ligases/genética
2.
Oncol Rep ; 34(1): 318-24, 2015 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-25954994

RESUMO

Previous studies have focused on miRNA expression in brain gliomas. However, both the expression pattern of miRNAs in gliomas of different grades and various miRNAs involved in malignant progression of gliomas are poorly understood. In the present study, we used miRNA microarray-based screening to investigate the miRNA expression profile in gliomas, which was further verified by qRT-PCR in selected miRNAs. In total, we found 13 differentially expressed miRNAs between gliomas and their matched surrounding tissues. Among them, 12 miRNAs were upregulated and only one (miR-4489) was downregulated compared with the control. Furthermore, the lower expression level of miR-4489 was confirmed by qRT-PCR in 26 glioma samples. Our microarray result revealed 8, 9 and 15 aberrantly expressed miRNAs in gliomas of World Health Organization (WHO) grade II-IV, respectively. Gene Ontology (GO) and Pathway analysis indicated that target genes of the 13 miRNAs were significantly enriched in central nervous system- and tumor-related biological processes and signaling pathways. The dysregulated miRNAs identified in the present study contribute to the tumorigenesis and malignant progression of gliomas and may serve as useful markers for advanced glioma pathological grading and prognosis.


Assuntos
Neoplasias Encefálicas/genética , Redes Reguladoras de Genes/genética , Glioma/genética , MicroRNAs/biossíntese , Adolescente , Adulto , Idoso , Neoplasias Encefálicas/patologia , Transformação Celular Neoplásica/genética , Criança , Pré-Escolar , Progressão da Doença , Feminino , Regulação Neoplásica da Expressão Gênica , Glioma/patologia , Humanos , Masculino , MicroRNAs/genética , Análise em Microsséries , Pessoa de Meia-Idade , Gradação de Tumores , Prognóstico
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