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https://www.readbyqxmd.com/read/28320162/rnf213-rs112735431-polymorphism-in-intracranial-artery-steno-occlusive-disease-and-moyamoya-disease-in-koreans
#1
Min-Gyu Park, Jin-Hong Shin, Sang Weon Lee, Hae Rim Park, Kyung-Pil Park
BACKGROUND: The rs112735431 polymorphism of the RNF213, a susceptibility variant for moyamoya disease (MMD), may be associated with non-MMD intracranial artery steno-occlusive disease of non-MMD type (non-MMD ICAD) in Asian. We investigated whether the rs112735431 polymorphism of the RNF213 affect the development of non-MMD ICAD in Koreans compared to MMD and control group. METHODS: We included 31 patients with non-MMD ICAD, 25 patients with MMD, and 100 participants as control group...
April 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28276505/alternative-exon-skipping-biases-substrate-preference-of-the-deubiquitylase-usp15-for-mysterin-rnf213-the-moyamoya-disease-susceptibility-factor
#2
Yuri Kotani, Daisuke Morito, Kenshiro Sakata, Shiori Ainuki, Munechika Sugihara, Tomohisa Hatta, Shun-Ichiro Iemura, Seiji Takashima, Tohru Natsume, Kazuhiro Nagata
The deubiquitylating enzyme USP15 plays significant roles in multiple cellular pathways including TGF-β signaling, RNA splicing, and innate immunity. Evolutionarily conserved skipping of exon 7 occurs during transcription of the mRNAs encoding USP15 and its paralogue USP4, yielding two major isoforms for each gene. Exon 7 of USP15 encodes a serine-rich stretch of 29 amino acid residues located in the inter-region linker that connects the N-terminal putative regulatory region and the C-terminal enzymatic region...
March 9, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28181038/transcriptomic-profiling-of-egg-quality-in-sea-bass-dicentrarchus-labrax-sheds-light-on-genes-involved-in-ubiquitination-and-translation
#3
Daniel Żarski, Thaovi Nguyen, Aurélie Le Cam, Jérôme Montfort, Gilbert Dutto, Marie Odile Vidal, Christian Fauvel, Julien Bobe
Variable and low egg quality is a major limiting factor for the development of efficient aquaculture production. This stems from limited knowledge on the mechanisms underlying egg quality in cultured fish. Molecular analyses, such as transcriptomic studies, are valuable tools to identify the most important processes modulating egg quality. However, very few studies have been devoted to this aspect so far. Within this study, the microarray-based transcriptomic analysis of eggs (of different quality) of sea bass (Dicentrarchus labrax) was performed...
February 2017: Marine Biotechnology
https://www.readbyqxmd.com/read/28153617/the-susceptibility-pathogenesis-of-the-moyamoya-disease
#4
Juntao Hu, Jie Luo, Qianxue Chen
Moyamoya disease (MMD) is a cerebrovascular disease characterized by progressive stenosis of the intracranial internal carotid arteries and their proximal branches. Epidemiologically, MMD is more prevalent in east Asia than any region worldwide, which have been estimated at 0.94 per 100 000 in Japanese and 0.43 per 100,000 in Chinese.However, the etiology of this rare disease remains unknown. Regarding biomarkers of moyamoya disease, moyamoya disease is characterized by an increased expression of angiogenic factors and pro-inflammatory molecules such as vascular endothelial growth factors and matrix metalloproteinase-9, which may partly explain its clinical manifestations of the pathologic angiogenesis, spontaneous hemorrhage, and higher incidence of cerebral hyperperfusion after revascularization surgery...
January 30, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28063898/the-association-of-the-rnf213-p-r4810k-polymorphism-with-quasi-moyamoya-disease-and-a-review-of-the-pertinent-literature
#5
Qian Zhang, Yaping Liu, Lebao Yu, Ran Duan, Yonggang Ma, Peicong Ge, Dong Zhang, Yan Zhang, Rong Wang, Shuo Wang, Yuanli Zhao, Yong Cao, Xingju Liu, Xiaofeng Deng, Jizong Zhao, Xue Zhang
BACKGROUND: Quasi-moyamoya disease (MMD) is characterized by moyamoya vasculopathy and well-recognized comorbidity. Whether the recently identified MMD susceptibility gene variant, p.R4810K (rs112735431), is associated with quasi-MMD remains unclear. METHODS: This study was a 2-hospital-based case-control study that was conducted in the neurosurgical departments of Beijing Tiantan Hospital and Peking University International Hospital. A total of 42 patients and 161 controls were enrolled...
March 2017: World Neurosurgery
https://www.readbyqxmd.com/read/27960175/moyamoya-disease
#6
REVIEW
Miki Fujimura, Oh Young Bang, Jong S Kim
Moyamoya disease (MMD) is a chronic occlusive cerebrovascular disease characterized by progressive stenosis at the terminal portion of the internal carotid artery and an abnormal vascular network at the base of the brain. Although its etiology is unknown, recent genetic studies have identified RNF213 in the 17q25-ter region as an important susceptibility gene of MMD among East Asian populations. A c.14576G>A polymorphism in RNF213 was identified in 95% of MMD patients with a family history and in 79% of sporadic cases, and patients carrying this polymorphism exhibited significantly earlier disease onset and a more-severe form of MMD...
2016: Frontiers of Neurology and Neuroscience
https://www.readbyqxmd.com/read/27787485/moyamoya-vasculopathy-shows-a-genetic-mutational-gradient-decreasing-from-east-to-west
#7
Alessandro Raso, Roberto Biassoni, Samantha Mascelli, Paolo Nozza, Elisabetta Ugolotti, Eddi DI Marco, Patrizia DE Marco, Elisa Merello, Armando Cama, Marco Pavanello, Valeria Capra
BACKGROUND: Moyamoya disease (MMD) is a chronic, occlusive cerebrovascular disease characterized by bilateral steno- occlusive changes at the terminal portion of the internal carotid arteries and an abnormal vascular network at the base of the brain determining stroke in children. Patients with a similar vasculopathy and associated conditions are affected by the moyamoya syndrome (MMS). Most of the studies focused on MMD were carried out on East-Asian population. Ring Finger 213 (RNF213) has been identified as the strongest susceptibility gene for MMD in East-Asian people...
October 27, 2016: Journal of Neurosurgical Sciences
https://www.readbyqxmd.com/read/27748344/role-of-ring-finger-protein-213-in-moyamoya-disease
#8
REVIEW
Yong-Gang Ma, Qian Zhang, Le-Bao Yu, Ji-Zong Zhao
OBJECTIVE: The aim of this study was to help people comprehensively understand the research advances related to ring finger protein 213 (RNF213) in moyamoya disease (MMD) and to understand the disease at the molecular level to provide a new perspective of the diagnosis of the disease. DATA SOURCES: This review was based on data in articles published between 2005 and 2015 that were retrieved from the PubMed database. The search terms included RNF213, MMD, intracranial major artery stenosis /occlusion (ICASO), genotype, phenotype, mutant and variants, and the combinations of these terms...
October 20, 2016: Chinese Medical Journal
https://www.readbyqxmd.com/read/27745834/rnf213-is-associated-with-intracranial-aneurysms-in-the-french-canadian-population
#9
Sirui Zhou, Amirthagowri Ambalavanan, Daniel Rochefort, Pingxing Xie, Cynthia V Bourassa, Pascale Hince, Alexandre Dionne-Laporte, Dan Spiegelman, Ziv Gan-Or, Cathy Mirarchi, Vessela Zaharieva, Nicolas Dupré, Hatasu Kobayashi, Toshiaki Hitomi, Kouji Harada, Akio Koizumi, Lan Xiong, Patrick A Dion, Guy A Rouleau
Intracranial aneurysms (IAs) are the result of focal weakness in the artery wall and have a complex genetic makeup. To date, genome-wide association and sequencing studies have had limited success in identifying IA risk factors. Distinct populations, such as the French-Canadian (FC) population, have increased IA prevalence. In our study, we used exome sequencing to prioritize risk variants in a discovery cohort of six FC families affected by IA, and the analysis revealed an increased variation burden for ring finger protein 213 (RNF213)...
November 3, 2016: American Journal of Human Genetics
https://www.readbyqxmd.com/read/27736983/rnf213-rare-variants-in-slovakian-and-czech-moyamoya-disease-patients
#10
Hatasu Kobayashi, Miroslav Brozman, Kateřina Kyselová, Daša Viszlayová, Takaaki Morimoto, Martin Roubec, David Školoudík, Andrea Petrovičová, Dominik Juskanič, Jozef Strauss, Marián Halaj, Peter Kurray, Marián Hranai, Kouji H Harada, Sumiko Inoue, Yukako Yoshida, Toshiyuki Habu, Roman Herzig, Shohab Youssefian, Akio Koizumi
RNF213/Mysterin has been identified as a susceptibility gene for moyamoya disease, a cerebrovascular disease characterized by occlusive lesions in the circle of Willis. The p.R4810K (rs112735431) variant is a founder polymorphism that is strongly associated with moyamoya disease in East Asia. Many non-p.R4810K rare variants of RNF213 have been identified in white moyamoya disease patients, although the ethnic mutations have not been investigated in this population. In the present study, we screened for RNF213 variants in 19 Slovakian and Czech moyamoya disease patients...
2016: PloS One
https://www.readbyqxmd.com/read/27717682/exome-sequencing-identified-ccer2-as-a-novel-candidate-gene-for-moyamoya-disease
#11
Maki Mukawa, Tadashi Nariai, Hideaki Onda, Taku Yoneyama, Yasuo Aihara, Kengo Hirota, Takumi Kudo, Kazutaka Sumita, Taketoshi Maehara, Takakazu Kawamata, Hidetoshi Kasuya, Hiroyuki Akagawa
The etiology of Moyamoya disease (MMD) is still largely unclear, despite identification of RNF213 as the most significant susceptibility gene in East Asian patients. Following up our previous study confirming genetic heterogeneity in Japanese patients with MMD, we extensively surveyed novel candidate genes for a new perspective on the etiology of this disease. Two characteristic pedigrees without susceptibility variants in RNF213 were selected for whole-exome sequencing; 1 harbored 3 affected members, and the other included discordant monozygotic twins...
January 2017: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
https://www.readbyqxmd.com/read/27662211/cellular-functions-and-gene-and-protein-expression-profiles-in-endothelial-cells-derived-from-moyamoya-disease-specific-ips-cells
#12
Shuji Hamauchi, Hideo Shichinohe, Haruto Uchino, Shigeru Yamaguchi, Naoki Nakayama, Ken Kazumata, Toshiya Osanai, Takeo Abumiya, Kiyohiro Houkin, Takumi Era
BACKGROUND AND PURPOSE: Moyamoya disease (MMD) is a slow, progressive steno-occlusive disease, arising in the terminal portions of the cerebral internal carotid artery. However, the functions and characteristics of the endothelial cells (ECs) in MMD are unknown. We analyzed these features using induced pluripotent stem cell (iPSC)-derived ECs. METHODS: iPSC lines were established from the peripheral blood of three patients with MMD carrying the variant RNF213 R4810K, and three healthy persons used as controls...
2016: PloS One
https://www.readbyqxmd.com/read/27515544/association-between-the-rs112735431-polymorphism-of-the-rnf213-gene-and-moyamoya-disease-a-case-control-study-and-meta-analysis
#13
Yanlan Huang, Daobin Cheng, Jiede Zhang, Weijia Zhao
Ring finger protein 213 (RNF213) gene polymorphisms are thought to be significant in the etiology and pathogenesis of moyamoya disease (MMD). Due to the rarity of MMD patients, their ethnic diversity, and the use of varying methodologies, studies of the association between these polymorphisms and MMD have not been repeatable. This lack of reproducibility affects the strength of the conclusions drawn from their results. We conducted the present case-control study and meta-analysis to provide more precise estimates of the association between the rs112735431 (c...
October 2016: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/27507861/nonatheroscleotic-isolated-middle-cerebral-artery-disease-may-be-early-manifestation-of-moyamoya-disease
#14
Yeon-Jung Kim, Joo Kyung Lee, Sung-Ho Ahn, Bum Joon Kim, Dong-Wha Kang, Jong S Kim, Sun U Kwon
BACKGROUND AND PURPOSE: Middle cerebral artery steno-occlusive disease (MCAD) is not an uncommon cause of ischemic stroke in young Asians. Aside from atherosclerosis, the pathogenesis of MCAD include various nonatherosclerotic vasculopathies, most of which are yet to be defined. This study investigated the pathogenesis of symptomatic isolated MCAD in young Asian patients using high-resolution magnetic resonance imaging (HR-MRI) and mutation analysis of RNF213. METHODS: Patients aged <60 years with stroke or transient ischemic attack caused by MCAD were prospectively enrolled...
September 2016: Stroke; a Journal of Cerebral Circulation
https://www.readbyqxmd.com/read/27494443/letter-to-the-editor-rnf213-variant-and-quasimoyamoya-disease
#15
LETTER
Masaki Komiyama
No abstract text is available yet for this article.
November 2016: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/27476341/significant-association-of-the-rnf213-p-r4810k-polymorphism-with-quasi-moyamoya-disease
#16
Takaaki Morimoto, Yohei Mineharu, Hatasu Kobayashi, Kouji H Harada, Takeshi Funaki, Yasushi Takagi, Nobuyuki Sakai, Susumu Miyamoto, Akio Koizumi
BACKGROUND: Quasi-moyamoya disease is an angiographical moyamoya disease equivalent accompanied by known underlying diseases. Mysterin/RNF213 is a major susceptibility gene for moyamoya disease, of which the p.R4810K variant is a founder polymorphism. The genetics of quasi-moyamoya disease is poorly understood, therefore, this study investigated a potential association between the p.R4810K polymorphism and quasi-moyamoya disease. METHODS: Genotyping of the p.R4810K variant was performed on 18 quasi-moyamoya disease cases and 91 controls, who visited Kyoto University Hospital or Kobe City Medical Center, Japan, between 2006 and 2015...
November 2016: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
https://www.readbyqxmd.com/read/27462098/caveolin-1-ring-finger-protein-213-and-endothelial-function-in-moyamoya-disease
#17
Oh Young Bang, Jong-Won Chung, Suk Jae Kim, Mi Jeong Oh, Soo Yoon Kim, Yeon Hee Cho, Jihoon Cha, Je Young Yeon, Keon Ha Kim, Gyeong-Moon Kim, Chin-Sang Chung, Kwang Ho Lee, Chang-Seok Ki, Pyoung Jeon, Jong-Soo Kim, Seung Chyul Hong, Gyeong Joon Moon
BACKGROUND: Moyamoya disease is a unique cerebrovascular occlusive disease of unknown etiology. Ring finger protein 213 (RNF213) was identified as a susceptibility gene for Moyamoya disease in East Asian countries. However, the pathogenesis of Moyamoya disease remains unclear. METHODS: We prospectively analyzed clinical data for 139 patients with Moyamoya disease (108 bilateral Moyamoya disease, 31 unilateral Moyamoya disease), 61 patients with intracranial atherosclerotic stroke, and 68 healthy subjects...
July 26, 2016: International Journal of Stroke: Official Journal of the International Stroke Society
https://www.readbyqxmd.com/read/27375007/homozygosity-for-moyamoya-disease-risk-allele-leads-to-moyamoya-disease-with-extracranial-systemic-and-pulmonary-vasculopathy
#18
Hiroyuki Fukushima, Toshiki Takenouchi, Kenjiro Kosaki
Moyamoya disease is characterized by diffuse distal intracranial stenosis. Recently, RNF213 has been identified as a susceptibility gene in the development of this condition. Pulmonary hypertension is a rare progressive vasculopathy with an unknown etiology. The co-occurrence of pulmonary hypertension and Moyamoya disease has been described in four patients; however, whether this co-occurrence represents a chance association or a common vascular pathology has remained unknown. Here, we report two unrelated male patients who presented during their childhood with dyspnea on exertion...
September 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27365075/frequency-of-rnf213-p-r4810k-a-susceptibility-variant-for-moyamoya-disease-and-health-characteristics-of-carriers-in-the-japanese-population
#19
Yang Cao, Hatasu Kobayashi, Takaaki Morimoto, Risako Kabata, Kouji H Harada, Akio Koizumi
OBJECTIVES: RNF213 p.R4810K is a founder polymorphism that confers genetic susceptibility to moyamoya disease in East Asia. Only a few studies have investigated the symptoms and disease histories of RNF213 p.R4810K carriers in Japan. This study investigated the frequency of RNF213 p.R4810K in the general Japanese population and the health characteristics of the carriers. METHODS: Through a health-promotion campaign in the city of Uji, Japan, 519 subjects (120 males and 399 females) of the general Japanese population were genotyped for RNF213 p...
September 2016: Environmental Health and Preventive Medicine
https://www.readbyqxmd.com/read/27323329/ptp1b-controls-non-mitochondrial-oxygen-consumption-by-regulating-rnf213-to-promote-tumour-survival-during-hypoxia
#20
Robert S Banh, Caterina Iorio, Richard Marcotte, Yang Xu, Dan Cojocari, Anas Abdel Rahman, Judy Pawling, Wei Zhang, Ankit Sinha, Christopher M Rose, Marta Isasa, Shuang Zhang, Ronald Wu, Carl Virtanen, Toshiaki Hitomi, Toshiyuki Habu, Sachdev S Sidhu, Akio Koizumi, Sarah E Wilkins, Thomas Kislinger, Steven P Gygi, Christopher J Schofield, James W Dennis, Bradly G Wouters, Benjamin G Neel
Tumours exist in a hypoxic microenvironment and must limit excessive oxygen consumption. Hypoxia-inducible factor (HIF) controls mitochondrial oxygen consumption, but how/if tumours regulate non-mitochondrial oxygen consumption (NMOC) is unknown. Protein-tyrosine phosphatase-1B (PTP1B) is required for Her2/Neu-driven breast cancer (BC) in mice, although the underlying mechanism and human relevance remain unclear. We found that PTP1B-deficient HER2(+) xenografts have increased hypoxia, necrosis and impaired growth...
July 2016: Nature Cell Biology
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