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https://www.readbyqxmd.com/read/28797616/genetic-analysis-of-ring-finger-protein-213-rnf213-c-14576g-a-in-intracranial-atherosclerosis-of-the-anterior-and-posterior-circulations
#1
Yuki Shinya, Satoru Miyawaki, Hideaki Imai, Hiroki Hongo, Hideaki Ono, Atsumi Takenobu, Hirofumi Nakatomi, Akira Teraoka, Nobuhito Saito
BACKGROUND: Intracranial atherosclerosis of the anterior circulation (anterior ICAS) and intracranial atherosclerosis of the posterior circulation (posterior ICAS) are thought to involve different pathogeneses and risk factors. Recently, we identified a genetic variant that has a significant association with ICAS. The variant was ring finger protein 213 (RNF213) c.14576G>A (rs112735431), which was originally identified as a susceptibility genetic variant for moyamoya disease (MMD)...
August 7, 2017: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
https://www.readbyqxmd.com/read/28734662/transient-global-cerebral-ischemia-induces-rnf213-a-moyamoya-disease-susceptibility-gene-in-vulnerable-neurons-of-the-rat-hippocampus-ca1-subregion-and-ischemic-cortex
#2
Mika Sato-Maeda, Miki Fujimura, Sherif Rashad, Yuiko Morita-Fujimura, Kuniyasu Niizuma, Hiroyuki Sakata, Shuntaro Ikawa, Teiji Tominaga
The RING finger protein 213 (RNF213) is an important susceptibility gene for moyamoya disease (MMD) and is also implicated in other types of intracranial major artery stenosis/occlusion (ICAS); however, the role of RNF213 in the development of ICAS including MMD is unclear. The constitutive expression of the RNF213 gene is relatively weak in brain tissue, while information regarding the expression patterns of the RNF213 gene under cerebral ischemia, which is one of characteristic pathologies associated with ICAS, is currently limited...
September 2017: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
https://www.readbyqxmd.com/read/28686325/rnf213-variants-in-a-child-with-phace-syndrome-and-moyamoya-vasculopathy
#3
Kala F Schilter, Jack E Steiner, Wendy Demos, Mohit Maheshwari, Jeremy W Prokop, Elizabeth Worthey, Beth A Drolet, Dawn H Siegel
Segmental infantile hemangiomas (IH) can be associated with congenital anomalies in a regional distribution. PHACE refers to large cervicofacial segmental IH in association with congenital anomalies of the aortic arch and medium-sized arteries of the head and neck, as well as structural anomalies of the posterior fossa and eye. A subset of PHACE patients have arterial anomalies that progress to moyamoya vasculopathy (MMV). MMV is defined as stenosis of the supraclinoid segment of the internal carotid arteries and/or their major branches, with subsequent development of a compensatory collateral vessel network...
July 7, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28679692/an-unusual-genomic-variant-of-pancreatic-ductal-adenocarcinoma-with-an-indolent-clinical-course
#4
Zachary A Kohutek, Lauren M Rosati, Junguei Hong, Justin Poling, Marc A Attiyeh, Alvin Makohon-Moore, Joseph M Herman, Christine A Iacobuzio-Donahue
We describe an 85-yr-old male of Ashkenazi Jewish descent with biopsy-proven locally advanced pancreatic ductal adenocarcinoma (PDA). The patient underwent a modified course of gemcitabine and stereotactic body radiation therapy and survived for 42 mo with a stable pancreatic head mass and no evidence of metastatic disease before death due to complications from a stroke. Whole-exome sequencing of his tumor revealed a simple genome landscape with no evidence of mutations, copy-number changes, or structural alterations in genes most commonly associated with PDA (i...
July 2017: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/28659337/alk-positive-anaplastic-large-cell-lymphoma-with-the-variant-rnf213-atic-and-tpm3-alk-fusions-is-characterized-by-copy-number-gain-of-the-rearranged-alk-gene
#5
Jo-Anne van de Krogt, Marlies Vanden Bempt, Julio Finalet Ferreiro, Nicole Mentens, Kris Jacobs, Ursula Pluys, Kathleen Doms, Ellen Geerdens, Anne Uyttebroeck, Pascal Pierre, Lucienne Michaux, Timothy Devos, Peter Vandenberghe, Thomas Tousseyn, Jan Cools, Iwona Wlodarska
ALK positive anaplastic large cell lymphoma is characterized by 2p23/ALK aberrations, including the classic t(2;5)(p23;q35)/NPM1-ALK rearrangement present in ~80% of cases and several variant t(2p23/ALK) occurring in the remaining cases. The ALK fusion partners play a key role in the constitutive activation of the chimeric protein and its subcellular localization. Using various molecular technologies, we have characterized ALK fusions in eight recently diagnosed anaplastic large cell lymphoma cases with cytoplasmic-only ALK expression...
June 28, 2017: Haematologica
https://www.readbyqxmd.com/read/28635953/rare-rnf213-variants-in-the-c-terminal-region-encompassing-the-ring-finger-domain-are-associated-with-moyamoya-angiopathy-in-caucasians
#6
Stéphanie Guey, Markus Kraemer, Dominique Hervé, Thomas Ludwig, Manoëlle Kossorotoff, Françoise Bergametti, Jan Claudius Schwitalla, Simone Choi, Lucile Broseus, Isabelle Callebaut, Emmanuelle Genin, Elisabeth Tournier-Lasserve
Moyamoya angiopathy (MMA) is a cerebral angiopathy affecting the terminal part of internal carotid arteries. Its prevalence is 10 times higher in Japan and Korea than in Europe. In East Asian countries, moyamoya is strongly associated to the R4810K variant in the RNF213 gene that encodes for a protein containing a RING-finger and two AAA+ domains. This variant has never been detected in Caucasian MMA patients, but several rare RNF213 variants have been reported in Caucasian cases. Using a collapsing test based on exome data from 68 European MMA probands and 573 ethnically matched controls, we showed a significant association between rare missense RNF213 variants and MMA in European patients (odds ratio (OR)=2...
August 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28617845/frequency-and-significance-of-rare-rnf213-variants-in-patients-with-adult-moyamoya-disease
#7
Mi-Ae Jang, Jong-Won Chung, Je Young Yeon, Jong-Soo Kim, Seung Chyul Hong, Oh Young Bang, Chang-Seok Ki
PURPOSE: Moyamoya disease (MMD) is a rare cerebrovascular disorder characterized by stenosis of the internal carotid arteries with compensatory development of collateral vessels. Although a founder variant of RNF213, p.Arg4810Lys (c.14429G>A, rs112735431), is a major genetic risk factor for MMD in East Asians, the frequency and disease susceptibility of other variants in this gene remain largely unknown. In the present study, we investigated the association of RNF213 variants with MMD in Korean patients and population controls...
2017: PloS One
https://www.readbyqxmd.com/read/28600779/the-landscape-of-genetic-diseases-in-saudi-arabia-based-on-the-first-1000-diagnostic-panels-and-exomes
#8
Dorota Monies, Mohamed Abouelhoda, Moeenaldeen AlSayed, Zuhair Alhassnan, Maha Alotaibi, Husam Kayyali, Mohammed Al-Owain, Ayaz Shah, Zuhair Rahbeeni, Mohammad A Al-Muhaizea, Hamad I Alzaidan, Edward Cupler, Saeed Bohlega, Eissa Faqeih, Maha Faden, Banan Alyounes, Dyala Jaroudi, Ewa Goljan, Hadeel Elbardisy, Asma Akilan, Renad Albar, Hesham Aldhalaan, Shamshad Gulab, Aziza Chedrawi, Bandar K Al Saud, Wesam Kurdi, Nawal Makhseed, Tahani Alqasim, Heba Y El Khashab, Hamoud Al-Mousa, Amal Alhashem, Imaduddin Kanaan, Talal Algoufi, Khalid Alsaleem, Talal A Basha, Fathiya Al-Murshedi, Sameena Khan, Adila Al-Kindy, Maha Alnemer, Sami Al-Hajjar, Suad Alyamani, Hasan Aldhekri, Ali Al-Mehaidib, Rand Arnaout, Omar Dabbagh, Mohammad Shagrani, Dieter Broering, Maha Tulbah, Amal Alqassmi, Maisoon Almugbel, Mohammed AlQuaiz, Abdulaziz Alsaman, Khalid Al-Thihli, Raashda A Sulaiman, Wajeeh Al-Dekhail, Abeer Alsaegh, Fahad A Bashiri, Alya Qari, Suzan Alhomadi, Hisham Alkuraya, Mohammed Alsebayel, Muddathir H Hamad, Laszlo Szonyi, Faisal Abaalkhail, Sulaiman M Al-Mayouf, Hamad Almojalli, Khalid S Alqadi, Hussien Elsiesy, Taghreed M Shuaib, Mohammed Zain Seidahmed, Ibraheem Abosoudah, Hana Akleh, Abdulaziz AlGhonaium, Turki M Alkharfy, Fuad Al Mutairi, Wafa Eyaid, Abdullah Alshanbary, Farrukh R Sheikh, Fahad I Alsohaibani, Abdullah Alsonbul, Saeed Al Tala, Soher Balkhy, Randa Bassiouni, Ahmed S Alenizi, Maged H Hussein, Saeed Hassan, Mohamed Khalil, Brahim Tabarki, Saad Alshahwan, Amira Oshi, Yasser Sabr, Saad Alsaadoun, Mustafa A Salih, Sarar Mohamed, Habiba Sultana, Abdullah Tamim, Moayad El-Haj, Saif Alshahrani, Dalal K Bubshait, Majid Alfadhel, Tariq Faquih, Mohamed El-Kalioby, Shazia Subhani, Zeeshan Shah, Nabil Moghrabi, Brian F Meyer, Fowzan S Alkuraya
In this study, we report the experience of the only reference clinical next-generation sequencing lab in Saudi Arabia with the first 1000 families who span a wide-range of suspected Mendelian phenotypes. A total of 1019 tests were performed in the period of March 2016-December 2016 comprising 972 solo (index only), 14 duo (parents or affected siblings only), and 33 trio (index and parents). Multigene panels accounted for 672 tests, while whole exome sequencing (WES) represented the remaining 347 tests. Pathogenic or likely pathogenic variants that explain the clinical indications were identified in 34% (27% in panels and 43% in exomes), spanning 279 genes and including 165 novel variants...
August 2017: Human Genetics
https://www.readbyqxmd.com/read/28506590/rnf213-p-r4810k-variant-and-intracranial-arterial-stenosis-or-occlusion-in-relatives-of-patients-with-moyamoya-disease
#9
Yoshiko Matsuda, Yohei Mineharu, Mitsuru Kimura, Yasushi Takagi, Hatasu Kobayashi, Toshiaki Hitomi, Kouji H Harada, Yoshito Uchihashi, Takeshi Funaki, Susumu Miyamoto, Akio Koizumi
BACKGROUND: This study aimed to determine the effectiveness of genetic testing for the p.R4810K variant (rs112735431) of the Mysterin/RNF213 gene, which is associated with moyamoya disease and other intracranial vascular diseases, in the family members of patients with moyamoya disease. METHODS: We performed genotyping of the RNF213 p.R4810K polymorphism and magnetic resonance angiography on 59 relatives of 18 index patients with moyamoya disease. Nineteen individuals had follow-up magnetic resonance angiography with a mean follow-up period of 7...
August 2017: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
https://www.readbyqxmd.com/read/28497183/rapid-contralateral-progression-of-focal-cerebral-arteriopathy-distinguished-from-rnf213-related-moyamoya-disease-and-fibromuscular-dysplasia
#10
Yoshio Araki, Yasushi Takagi, Yohei Mineharu, Hatasu Kobayashi, Susumu Miyamoto, Toshihiko Wakabayashi
BACKGROUND: Focal cerebral arteriopathy includes unifocal or multifocal lesions that are unilateral or bilateral. Large- and/or medium-sized vessels are involved and can be visualized on angiography. CASE REPORT: We report a case of cerebral infarction in a 9-year-old Japanese female who presented with a transient ischemic attack. Steno-occlusion involving the distal part of the internal carotid artery, proximal middle cerebral artery, and anterior cerebral artery was observed...
August 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28414759/significant-association-of-rnf213-p-r4810k-a-moyamoya-susceptibility-variant-with-coronary-artery-disease
#11
Takaaki Morimoto, Yohei Mineharu, Koh Ono, Masahiro Nakatochi, Sahoko Ichihara, Risako Kabata, Yasushi Takagi, Yang Cao, Lanying Zhao, Hatasu Kobayashi, Kouji H Harada, Katsunobu Takenaka, Takeshi Funaki, Mitsuhiro Yokota, Tatsuaki Matsubara, Ken Yamamoto, Hideo Izawa, Takeshi Kimura, Susumu Miyamoto, Akio Koizumi
BACKGROUND: The genetic architecture of coronary artery disease has not been fully elucidated, especially in Asian countries. Moyamoya disease is a progressive cerebrovascular disease that is reported to be complicated by coronary artery disease. Because most Japanese patients with moyamoya disease carry the p.R4810K variant of the ring finger 213 gene (RNF213), this may also be a risk factor for coronary artery disease; however, this possibility has never been tested. METHODS AND RESULTS: We genotyped the RNF213 p...
2017: PloS One
https://www.readbyqxmd.com/read/28320162/rnf213-rs112735431-polymorphism-in-intracranial-artery-steno-occlusive-disease-and-moyamoya-disease-in-koreans
#12
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
#13
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
#14
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-moyamoya-disease
#15
REVIEW
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 other region worldwide, and has been estimated at 0.94 per 100,000 in the Japanese and 0.43 per 100,000 in the Chinese population. The etiology of this rare disease, however, remains unknown. Regarding biomarkers, MMD is characterized by an increased expression of angiogenic factors and proinflammatory 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 greater incidence of cerebral hyperperfusion after revascularization surgery...
May 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
#16
REVIEW
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
#17
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
#18
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
#19
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
#20
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
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