scholarly journals RNF213 Gene

2020 ◽  
Author(s):  
Keyword(s):  
Rnf213 Gene

Familial moyamoya disease in two Turkish siblings with same polymorphism in RNF213 gene but different clinical features

2015 ◽  
Vol 32 (3) ◽  
pp. 569-573 ◽  
Author(s):  
Ayşe Kaçar Bayram ◽  
Ebru Yilmaz ◽  
Huseyin Per ◽  
Masaki Ito ◽  
Haruto Uchino ◽  
...  
Keyword(s):  
Clinical Features ◽  
Moyamoya Disease ◽  
Rnf213 Gene

scholarly journals The Genetic Basis of Moyamoya Disease

2021 ◽  
Author(s):  
R. Mertens ◽  
M. Graupera ◽  
H. Gerhardt ◽  
A. Bersano ◽  
E. Tournier-Lasserve ◽  
...  
Keyword(s):  
Moyamoya Disease ◽  
Cerebral Angiography ◽  
Genetic Basis ◽  
Age Of Onset ◽  
Gene Dosage ◽  
Cerebral Arteries ◽  
Susceptibility Gene ◽  
Neurological Dysfunction ◽  
Individual Risk ◽  
Rnf213 Gene

AbstractMoyamoya disease (MMD) is a rare cerebrovascular disease characterized by progressive spontaneous bilateral occlusion of the intracranial internal cerebral arteries (ICA) and their major branches with compensatory capillary collaterals resembling a “puff of smoke” (Japanese: Moyamoya) on cerebral angiography. These pathological alterations of the vessels are called Moyamoya arteriopathy or vasculopathy and a further distinction is made between primary and secondary MMD. Clinical presentation depends on age and population, with hemorrhage and ischemic infarcts in particular leading to severe neurological dysfunction or even death. Although the diagnostic suspicion can be posed by MRA or CTA, cerebral angiography is mandatory for diagnostic confirmation. Since no therapy to limit the stenotic lesions or the development of a collateral network is available, the only treatment established so far is surgical revascularization. The pathophysiology still remains unknown. Due to the early age of onset, familial cases and the variable incidence rate between different ethnic groups, the focus was put on genetic aspects early on. Several genetic risk loci as well as individual risk genes have been reported; however, few of them could be replicated in independent series. Linkage studies revealed linkage to the 17q25 locus. Multiple studies on the association of SNPs and MMD have been conducted, mainly focussing on the endothelium, smooth muscle cells, cytokines and growth factors. A variant of the RNF213 gene was shown to be strongly associated with MMD with a founder effect in the East Asian population. Although it is unknown how mutations in the RNF213 gene, encoding for a ubiquitously expressed 591 kDa cytosolic protein, lead to clinical features of MMD, RNF213 has been confirmed as a susceptibility gene in several studies with a gene dosage-dependent clinical phenotype, allowing preventive screening and possibly the  development of new therapeutic approaches. This review focuses on the genetic basis of primary MMD only.

scholarly journals MBRS-22. SIGNIFICANCE OF RNF213 IN TUMORGENICITY OF MEDULLOBLASTOMA

2020 ◽  
Vol 22 (Supplement_3) ◽  
pp. iii402-iii402
Author(s):  
Yohei Mineharu ◽  
Yuki Oichi ◽  
Takahiko Kamata ◽  
Yasuzumi Matsui ◽  
Takaaki Morimoto ◽  
...  
Keyword(s):  
Lipid Metabolism ◽  
Mouse Model ◽  
Cerebrovascular Disease ◽  
Wnt Signaling ◽  
Transgenic Mouse ◽  
Molecular Mechanism ◽  
Genomic Instability ◽  
Transgenic Mouse Model ◽  
Spontaneous Generation ◽  
Rnf213 Gene

Abstract RNF213 gene, initially identified as a disease-causing gene for moyamoya cerebrovascular disease, has recently been recognized as a tumor regulator. The gene is known to be associated with WNT signaling, lipid metabolism, angiogenesis and genomic instability. The purpose of this study was to investigate the association of RNF213 in tumorgenicity of medulloblastoma. Incidence of medulloblastoma and histopathological findings were compared among ptch1+/-, ptch1+/- rnf213+/-, and ptch1+/- rnf213-/- mice. Knockout of rnf213 in ptch1+/- transgenic mouse model increased the incidence of spontaneous generation of medulloblastoma from 19.8% (ptch1+/-) to 76.5% (rnf213+/- ptch1+/-) at 9 months (p < 0.001). Heterozygous knockout was equivalent to homozygous knockout. Haploinsufficiency of rnf213 seems to be associated with tumorgenicity in medulloblastoma. Molecular mechanism of medulloblastoma generation needs to be further investigated.

scholarly journals Novel missense variants in the RNF213 gene from a European family with Moyamoya disease

2019 ◽  
Vol 6 (1) ◽  
Author(s):  
Andrey N. Gagunashvili ◽  
Louise Ocaka ◽  
Daniel Kelberman ◽  
Pinki Munot ◽  
Chiara Bacchelli ◽  
...  
Keyword(s):  
Moyamoya Disease ◽  
Missense Variants ◽  
Rnf213 Gene ◽  
European Family

scholarly journals Molecular Analysis of RNF213 Gene for Moyamoya Disease in the Chinese Han Population

PLoS ONE ◽  
2012 ◽  
Vol 7 (10) ◽  
pp. e48179 ◽  
Author(s):  
Zhiyuan Wu ◽  
Hanqiang Jiang ◽  
Lei Zhang ◽  
Xiao Xu ◽  
Xinju Zhang ◽  
...  
Keyword(s):  
Molecular Analysis ◽  
Moyamoya Disease ◽  
Chinese Han Population ◽  
Chinese Han ◽  
Han Population ◽  
Rnf213 Gene

scholarly journals RNF213 gene polymorphism rs9916351 and rs8074015 significantly associated with moyamoya disease in Chinese population

2020 ◽  
Vol 8 (14) ◽  
pp. 851-851
Author(s):  
Bin Zhu ◽  
Xingju Liu ◽  
Xueke Zhen ◽  
Xixi Li ◽  
Mingfen Wu ◽  
...  
Keyword(s):  
Gene Polymorphism ◽  
Moyamoya Disease ◽  
Chinese Population ◽  
Rnf213 Gene

scholarly journals RNF213 gene mutation of circulating tumor DNA in early diagnosis of NSCLC using targeted next-generation sequencing

2019 ◽  
Author(s):  
Ning Jiang ◽  
Shukang Zhao ◽  
Peichao Li ◽  
Yu Liu ◽  
Hubo Shi ◽  
...  
Keyword(s):  
Lung Cancer ◽  
Peripheral Blood ◽  
Early Stage ◽  
Gene Mutations ◽  
High Specificity ◽  
Early Stage Lung Cancer ◽  
Targeted Next Generation Sequencing ◽  
Benign Nodules ◽  
Rnf213 Gene ◽  
Stage Lung Cancer

Abstract Introduction To distinguish early stage lung cancer from benign disease of the lung nodules, especially the lesions with ground-glass opacity (GGO) or ground-glass nodule (GGN), we assessed gene mutations of the ctDNA in peripheral blood by using targeted next-generation sequencing (NGS). Methods Single lung nodule patients without mediastinal lymph nodes or symptoms hardly diagnosed by chest CT and biomarker of lung cancer were enrolled. All patients received minimally invasive surgery but refused preoperative biopsy. Gene mutations of pre-operative blood samples were detected by targeted NGS. Mutations with statistical differences were screened in lung cancer and benign disease grouped by postoperative pathology. Gene expression was determined by immunohistochemistry. Highly expressed genes were selected as biomarkers to verify the mutations in peripheral blood. Results In training set, RNF213, KMT2D, CSMD3 and LRP1B genes mutated more frequently in early stage lung cancer (25cases) than benign nodules (18cases) (P<0.05). High expressions of RNF213 gene in lung cancers and low expressions in benign diseases were evaluated by immunohistochemistry. RNF213 gene mutated in 25% lung cancer samples in the validation set of 28 samples and showed high specificity (100%) and low sensibility (25.9%). In GGO and GGN patients, RNF213 mutated more frequently in early stage lung cancer compared to benign diseases (P<0.05). Conclusions RNF213 gene mutation was observed more frequently in early stage lung cancer, but rather than benign nodules. Mutation of RNF213 gene in peripheral blood may be a high specificity biomarker and valuable for early diagnosis of lung cancer.

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