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JOURNAL ARTICLE
Kotaro Noda, Yorito Hattori, Mika Hori, Mariko Harada-Shiba, Masafumi Ihara
OBJECTIVES: Familial hypercholesterolemia (FH), caused by PCSK9 p.E32K, is characterized by early-onset coronary artery disease. However, the relationship between PCSK9 p.E32K and cerebrovascular disease is unclear. One of our patients with the PCSK9 p.E32K had several intracranial artery stenoses (ICAS). The objective of this case series was to identify factors that may be associated with ICAS in the variant carriers. METHODS: A 75-year-old Japanese woman with FH carrying PCSK9 p...
October 2023: Neurology. Genetics
#22
JOURNAL ARTICLE
Jie Chen, Hanyue Zheng, Xiaoxin Wu, Xingyang Niu, Yuanyuan Dai, Zhenhua Zhou, Fei Ye
OBJECTIVE: Moyamoya disease (MMD) is a rare and progressive stenosis of cerebral arteries characterized by abnormally proliferative vasculopathy. Current studies have demonstrated that Neuregulin 1 (NRG1) plays a key role in angiogenesis-related disorders. Thus, the aim of our study is to investigate the serum NRG1 levels and their clinical correlations in MMD patients. METHODS: In this study, thirty adult patients with MMD and age-gender matched healthy controls were enrolled from our hospital between July 2020 and April 2022...
January 13, 2024: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
#23
JOURNAL ARTICLE
High-resolution MRI vessel wall enhancement in moyamoya disease: risk factors and clinical outcomes.
Fangbin Hao, Cong Han, Mingming Lu, Yue Wang, Gan Gao, Qiannan Wang, Shitong Liu, Simeng Liu, Minjie Wang, Bin Ren, Zhengxing Zou, Dan Yu, Caihong Sun, Qian Zhang, Qingbao Guo, Wanyang Liu, Zhenghui Sun, Jianming Cai, Lian Duan
OBJECTIVES: Intracranial vessel wall enhancement (VWE) on high-resolution magnetic resonance imaging (HRMRI) is associated with the progression and poor prognosis of moyamoya disease (MMD). This study assessed potential risk factors for VWE in MMD. METHODS: We evaluated MMD patients using HRMRI and traditional angiography examinations. The participants were divided into VWE and non-VWE groups based on HRMRI. Logistic regression was performed to compare the risk factors for VWE in MMD...
January 4, 2024: European Radiology
#24
Yifan Wang, L Robert Hollingsworth, Lamba Omar Sangaré, Tatiana C Paredes-Santos, Shruthi Krishnamurthy, Bennett H Penn, Hao Wu, Jeroen P J Saeij
UNLABELLED: Toxoplasma gondii is an intracellular parasite that can activate the NLRP1 inflammasome leading to macrophage pyroptosis in Lewis rats, but the underlying mechanism is not well understood. In this study, we performed a genome-wide CRISPR screen and identified the dense granule proteins GRA35, GRA42, and GRA43 as the Toxoplasma effectors mediating cell death in Lewis rat macrophages. GRA35 localizes on the parasitophorous vacuole membrane, where it interacts with the host E3 ubiquitin ligase ITCH...
December 14, 2023: bioRxiv
#25
JOURNAL ARTICLE
Daisuke Sato, Satoru Miyawaki, Hideaki Imai, Hiroki Hongo, Satoshi Kiyofuji, Satoshi Koizumi, Nobuhito Saito
BACKGROUND: Moyamoya disease is a bilateral steno-occlusive disease involving the cerebral vasculature. While some patients are affected by procedure-related ipsilateral ischemia, ischemic complications contralateral to the revascularization are rarely observed. METHODS: We retrospectively investigated 135 hemispheres (103 patients) that underwent revascularization in our institution between April 2006 and September 2022. Revascularization surgery comprised single superficial temporal artery-middle cerebral artery anastomosis and encephalo-myo-synangiosis...
December 26, 2023: World Neurosurgery
#26
JOURNAL ARTICLE
Sumit K Matta, Hinissan P Kohio, Pallavi Chandra, Adam Brown, John G Doench, Jennifer A Philips, Siyuan Ding, L David Sibley
To define cellular immunity to the intracellular pathogen Toxoplasma gondii , we performed a genome-wide CRISPR loss-of-function screen to identify genes important for (interferon gamma) IFN-γ-dependent growth restriction. We revealed a role for the tumor suppressor NF2/Merlin for maximum induction of Interferon Stimulated Genes (ISG), which are positively regulated by the transcription factor IRF-1. We then performed an ISG-targeted CRISPR screen that identified the host E3 ubiquitin ligase RNF213 as necessary for IFN-γ-mediated control of T...
January 2, 2024: Proceedings of the National Academy of Sciences of the United States of America
#27
JOURNAL ARTICLE
Yohei Mineharu, Yasushi Takagi, Akio Koizumi, Takaaki Morimoto, Takeshi Funaki, Tomohito Hishikawa, Yoshio Araki, Hitoshi Hasegawa, Jun C Takahashi, Satoshi Kuroda, Kiyohiro Houkin, Susumu Miyamoto
OBJECTIVES: The characteristics and clinical implications of posterior cerebral artery (PCA) involvement in unilateral moyamoya disease (U-MMD), such as laterality, frequency of the RNF213 p.R4810K mutation, and clinical outcomes, have not been well studied. POPULATION AND METHODS: We analyzed a cohort of 93 patients with U-MMD who participated in the SUPRA Japan study. Clinical characteristics and radiological examinations were collected from medical records. The presence of the p...
December 22, 2023: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
#28
JOURNAL ARTICLE
Diana Behrens, Ulrike Pfohl, Theresia Conrad, Michael Becker, Bernadette Brzezicha, Britta Büttner, Silvia Wagner, Cora Hallas, Rita Lawlor, Vladimir Khazak, Michael Linnebacher, Thomas Wartmann, Iduna Fichtner, Jens Hoffmann, Mathias Dahlmann, Wolfgang Walther
Patient-derived xenograft (PDX) tumor models are essential for identifying new biomarkers, signaling pathways and novel targets, to better define key factors of therapy response and resistance mechanisms. Therefore, this study aimed at establishing pancreas carcinoma (PC) PDX models with thorough molecular characterization, and the identification of signatures defining responsiveness toward drug treatment. In total, 45 PC-PDXs were generated from 120 patient tumor specimens and the identity of PDX and corresponding patient tumors was validated...
December 8, 2023: Cancers
#29
JOURNAL ARTICLE
Seong-Soo Lim, Sangshin Park, Byeong Ho Oh, Kiwook Jung, Jang-Whan Bae, Dae-Hwan Bae
RATIONALE: The ring finger protein 213 (RNF213) p.R4810K variant has been identified as being associated with Moyamoya disease (MMD), a condition that is more prevalent in East Asians. This association extends beyond cerebral vessels and has been implicated in coronary artery disease. PATIENT CONCERNS: A 36-year-old female was admitted to the emergency room with chest pain. Although the patient had no known underlying conditions or risk factors for atherosclerosis, she was diagnosed with unstable angina and underwent percutaneous coronary intervention...
December 15, 2023: Medicine (Baltimore)
#30
JOURNAL ARTICLE
Hiroyuki Ishiyama, Tomotaka Tanaka, Takeshi Yoshimoto, Atsushi Takahashi, Soshiro Ogata, Kunihiro Nishimura, Yoshihiro Asano, Akio Koizumi, Teruo Noguchi, Masafumi Ihara
No abstract text is available yet for this article.
October 2023: JACC Asia
#31
JOURNAL ARTICLE
Thiparpa Thamamongood, Shoko Hara, Hiroyuki Akagawa, Motoki Inaji, Yoji Tanaka, Tadashi Nariai, Taketoshi Maehara
Recently, thyroid autoantibodies were found to be associated with moyamoya disease (MMD). The ring finger protein 213 (RNF213) p.R4810K variant represents the most important susceptibility genotype of this disease, but its relationship with thyroid autoantibodies remains to be elucidated. Thus, in this study, we aimed to evaluate the clinical relevance of thyroid autoantibodies in each RNF213 genotype in patients with MMD. Included in this study were patients with MMD without a thyroid disease history and in euthyroid status; they were then classified into the mutated or nonmutated based on the RNF213 p...
December 6, 2023: Neurologia Medico-chirurgica
#32
Keisuke Yamamoto, Yasuyuki Kaku, Hiroshi Koga
INTRODUCTION: Recent studies have suggested associations between RNF213 variants and the formation of periventricular anastomosis among patients with moyamoya disease, leading to early onset of cerebral hemorrhage and rebleeding. CASE DESCRIPTION: We report herein the case of a boy with Down syndrome and moyamoya syndrome. Exome sequencing identified a heterozygous RNF213 R4810K variant. After ischemic stroke occurred at 9 years old, indirect surgical revascularization was performed for the left cerebral hemisphere and improved ischemic symptoms and cerebral hypoperfusion, while the left choroidal anastomosis remained...
2023: Frontiers in Pediatrics
#33
JOURNAL ARTICLE
Theresa Brunet, Benedikt Zott, Victoria Lieftüchter, Dominic Lenz, Axel Schmidt, Philipp Peters, Robert Kopajtich, Malin Zaddach, Hanna Zimmermann, Irina Hüning, Diana Ballhausen, Christian Staufner, Alyssa Bianzano, Joanne Hughes, Robert W Taylor, Robert McFarland, Anita Devlin, Mihaela Mihaljević, Nina Barišić, Meino Rohlfs, Sibylle Wilfling, Neal Sondheimer, Stacy Hewson, Nikolaos M Marinakis, Konstantina Kosma, Joanne Traeger-Synodinos, Miriam Elbracht, Matthias Begemann, Sonja Trepels-Kottek, Dimah Hasan, Marcello Scala, Valeria Capra, Federico Zara, Amelie T van der Ven, Joenna Driemeyer, Christian Apitz, Johannes Krämer, Alanna Strong, Hakon Hakonarson, Deborah Watson, Johannes A Mayr, Holger Prokisch, Thomas Meitinger, Ingo Borggraefe, Juliane Spiegler, Ivo Baric, Marco Paolini, Lucia Gerstl, Matias Wagner
PURPOSE: RNF213, encoding a giant E3 ubiquitin ligase, has been recognized for its role as a key susceptibility gene for moyamoya disease (MMD). Case reports have also implicated specific variants in RNF213 with an early-onset form of MMD with full penetrance. We aimed to expand the phenotypic spectrum of monogenic RNF213-related disease and to evaluate genotype-phenotype correlations. METHODS: Patients were identified through reanalysis of exome sequencing (ES) data of an unselected cohort of unsolved pediatric cases and through GeneMatcher or ClinVar...
October 31, 2023: Genetics in Medicine: Official Journal of the American College of Medical Genetics
#34
JOURNAL ARTICLE
Darren M Klawinski, Catherine E Cottrell, Kathleen M Schieffer, Justin A Indyk, Kajal Gandhi, Elaine R Mardis, Diana P Rodriguez, John C Breneman, Diana S Osorio
Brainstem injury occurs secondary to radiation to the posterior fossa in up to 2% of pediatric patients. It may occur after months to years after treatment. It has been associated with age less than 5 years and with comorbid conditions such as cerebrovascular disease, diabetes mellitus, and hypertension. Radiation necrosis is often symptomatic and can be fatal. A pathogenic variant in RNF213 was found in a patient who suffered fatal radiation necrosis. This mutation has been associated with moyamoya disease and may predispose to radiation necrosis...
October 25, 2023: Pediatric Blood & Cancer
#35
Abhishek Bhardwaj, Maria Antonelli, Beatrix Ueberheide, Benjamin G Neel
Hypoxic cancer cells resist many anti-neoplastic therapies and can seed recurrence. We found previously that PTP1B deficiency promotes HER2+ breast cancer cell death in hypoxia by activating RNF213, an ∼600kDa protein containing AAA-ATPase domains and two ubiquitin ligase domains (RING and RZ) that also is implicated in Moyamoya disease (MMD), lipotoxicity, and innate immunity. Here we report that PTP1B and ABL1/2 reciprocally control RNF213 phosphorylation on tyrosine-1275. This phosphorylation promotes RNF213 oligomerization and RZ domain activation...
September 26, 2023: bioRxiv
#36
JOURNAL ARTICLE
Shumeng Li, Yiheng Li, Pengcheng Huang, Xiaocheng Mao, Kaiyan Jiang, Ran Chen, Qing Li, Lulu Wang, Zeqing Jin, Chenyi Wan, Ying Xiong, Yaqing Yu, Wenli Sheng, Daojun Hong, Jing Lin
Previous studies by us and others have shown that RING finger protein 213 (RNF213) is associated with cerebrovascular disease and systemic vasculopathy. Indeed, Rnf213 mRNA expression is increased in cerebral ischemia reperfusion injury (CIRI). The purpose of the present study was to investigate the role of Rnf213 in CIRI. Using the middle cerebral artery occlusion (MCAO) model, we confirmed that the expression of RNF213 protein was significantly upregulated in neurons in the ischemic penumbra. Rnf213 knockout mice were successfully generated using CRISPR/Cas9 technology...
November 21, 2023: Neuroscience
#37
JOURNAL ARTICLE
Anna L Slingerland, Dylan S Keusch, Laura L Lehman, Edward R Smith, Siddharth Srivastava, Alfred P See
PURPOSE: Few guidelines exist for genetic testing of patients with moyamoya arteriopathy. This study aims to characterize the yield of genetic testing of non-syndromic moyamoya patients given the current pre-test probability. METHODS: All pediatric moyamoya patients who received revascularization surgery at one institution between 2018 and 2022 were retrospectively reviewed. Patients with previously diagnosed moyamoya syndromes or therapeutic cranial radiation were excluded...
October 1, 2023: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
#38
JOURNAL ARTICLE
Elizabeth Yi Zheng, Shoko Hara, Motoki Inaji, Yoji Tanaka, Tadashi Nariai, Taketoshi Maehara
OBJECTIVE: The aim of this study was to evaluate whether indirect revascularization in pediatric patients with moyamoya disease leads to periventricular anastomosis (PVA) regression, which is markedly developed in moyamoya vessels and is regarded as a risk factor for hemorrhage. METHODS: Pediatric patients with moyamoya disease treated with indirect revascularization from 2011 to 2021 were included in this study. Magnetic resonance angiography and arterial spin labeling images acquired before and 1 year after surgery were assessed to obtain a visual scale of postoperative collateral artery formation, moyamoya vessels, PVA, and quantitative values of cerebral blood flow (CBF)...
September 22, 2023: Journal of Neurosurgery. Pediatrics
#39
JOURNAL ARTICLE
Shunsuke Nomura, Hiroyuki Akagawa, Koji Yamaguchi, Kenko Azuma, Akikazu Nakamura, Atsushi Fukui, Fumiko Matsuzawa, Yasuo Aihara, Tatsuya Ishikawa, Yosuke Moteki, Kentaro Chiba, Kazutoshi Hashimoto, Shuhei Morita, Taichi Ishiguro, Yoshikazu Okada, Sandra Vetiska, Hugo Andrade-Barazarte, Ivan Radovanovic, Akitsugu Kawashima, Takakazu Kawamata
It is unclear how rare RNF213 variants, other than the p.R4810K founder variant, affect the clinical phenotype or the function of RNF213 in moyamoya disease (MMD). This study included 151 Japanese patients with MMD. After performing targeted resequencing for all coding exons in RNF213, we investigated the clinical phenotype and statistically analyzed the genotype-phenotype correlation. We mapped RNF213 variants on a three-dimensional (3D) model of human RNF213 and analyzed the structural changes due to variants...
September 28, 2023: Translational Stroke Research
#40
JOURNAL ARTICLE
Hirohisa Yajima, Satoru Miyawaki, Seisuke Sayama, Keiichi Kumasawa, Masako Ikemura, Hideaki Imai, Hiroki Hongo, Yudai Hirano, Daiichiro Ishigami, Seiei Torazawa, Satoshi Kiyofuji, Satoshi Koizumi, Nobuhito Saito
OBJECTIVE: The characteristics of pregnancy and delivery in patients with moyamoya disease (MMD) remain unclear. We retrospectively investigated perinatal outcomes in patients with MMD to evaluate the risks associated to this condition. MATERIALS AND METHODS: Clinical data of women with MMD who delivered at the University of Tokyo Hospital between 2000 and 2021 were collected. Maternal characteristics including genetic data, obstetric complications, method of delivery and anesthesia, neonatal outcomes, neurological events during pregnancy, delivery, and postpartum course, were reviewed...
September 22, 2023: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
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