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https://www.readbyqxmd.com/read/27900010/a-novel-mutation-of-the-fat2-gene-in-spinal-meningioma
#1
Genshu Tate, Koji Kishimoto, Toshiyuki Mitsuya
Meningiomas may be classified as neurofibromin 2 (NF2)-associated and non-NF2 meningiomas depending on the presence or absence of molecular alterations in the NF2 gene. One of the characteristic histological features of meningiomas is the whorl formation of neoplastic arachnoid cells. NF2 is a human homolog of the Drosophila gene, Merlin (Mer). In humans, NF2 is the gene responsible for the disease neurofibromatosis type II, which results in the development of brain tumors, including acoustic neurinoma and meningioma...
November 2016: Oncology Letters
https://www.readbyqxmd.com/read/27827403/mir-107-regulates-tumor-progression-by-targeting-nf1-in-gastric-cancer
#2
Shizhi Wang, Gaoxiang Ma, Haixia Zhu, Chunye Lv, Haiyan Chu, Na Tong, Dongmei Wu, Fulin Qiang, Weida Gong, Qinghong Zhao, Guoquan Tao, Jianwei Zhou, Zhengdong Zhang, Meilin Wang
Our previous genome-wide miRNA microarray study revealed that miR-107 was upregulated in gastric cancer (GC). In this study we aimed to explore its biological role in the pathogenesis of GC. Integrating in silico prediction algorithms with western blotting assays revealed that miR-107 inhibition enhanced NF1 (neurofibromin 1) mRNA and protein levels, suggesting that NF1 is one of miR-107 targets in GC. Luciferase reporter assay revealed that miR-107 suppressed NF1 expression by binding to the first potential binding site within the 3'-UTR of NF1 mRNA...
November 9, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27798892/neurofibromin-expression-is-associated-with-aggressive-disease-and-poor-outcome-in-colorectal-carcinoma
#3
Adam Elzagheid, Fatma Emaetig, Wesam Elsaghayer, Fairouz Torjman, Matti Latto, Kari Syrjänen, Yrjö Collan, Seppo Pyrhönen
AIM: To assess the predictive and prognostic value of neurofibromin (NF) expression in colorectal carcinoma (CRC). MATERIALS AND METHODS: The present series consists of archival samples from 191 patients with stage I, II, III, or IV CRC treated between 1981 and 1990 at the Turku University Hospital (Finland). Tumor biopsies as microarray blocks were analyzed for expression of NF by immunohistochemistry. Different grading systems were tested for NF expression. RESULTS: A significant correlation between NF expression and tumor localization was found, with tumors arising in the colon showing intense NF expression more often than those arising in the rectum (p=0...
October 2016: Anticancer Research
https://www.readbyqxmd.com/read/27791021/physical-interaction-between-neurofibromin-and-serotonin-5-ht6-receptor-promotes-receptor-constitutive-activity
#4
Wissem Deraredj Nadim, Séverine Chaumont-Dubel, Fahima Madouri, Laetitia Cobret, Marie-Ludivine De Tauzia, Pawel Zajdel, Hélène Bénédetti, Philippe Marin, Séverine Morisset-Lopez
Active G protein-coupled receptor (GPCR) conformations not only are promoted by agonists but also occur in their absence, leading to constitutive activity. Association of GPCRs with intracellular protein partners might be one of the mechanisms underlying GPCR constitutive activity. Here, we show that serotonin 5 hydroxytryptamine 6 (5-HT6) receptor constitutively activates the Gs/adenylyl cyclase pathway in various cell types, including neurons. Constitutive activity is strongly reduced by silencing expression of the Ras-GTPase activating protein (Ras-GAP) neurofibromin, a 5-HT6 receptor partner...
October 25, 2016: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/27785414/von-recklinghausen-disease-one-patient-various-problems
#5
B Bergler-Czop, B Miziołek, L Brzezińska-Wcisło
von Recklinghausen disease (vRD), more widely known as neurofibromatosis type 1, belongs to a group of genetic disorders and it is considered to be the most common genodermatosis. The disease has an autosomal dominant pattern of inheritance that involves mutations within the NF1 gene located on chromosome 17 in locus q11.2. The product of the NF1 gene is neurofibromin and the protein is well known to be a tumor suppressor factor. This counteracts possible overactivity of RAS (protein)/MAPK (mitogen-activated protein kinase) and RAS/PI3K/AKT/mTOR (phoshatydyloinositol-3-kinase/V-akt murine thy-moma viral oncogene homologue/mammalian target of rapamycin) signaling transduction pathways, preventing from uncontrolled cell proliferation and subsequent tumor formation...
July 1, 2016: Balkan Journal of Medical Genetics: BJMG
https://www.readbyqxmd.com/read/27773919/high-dose-intravenous-vitamin-c-treatment-of-a-child-with-neurofibromatosis-type-1-and-optic-pathway-glioma-a-case-report
#6
Nina Mikirova, Ronald Hunnunghake, Ruth C Scimeca, Charles Chinshaw, Faryal Ali, Chris Brannon, Neil Riordan
BACKGROUND In neurofibromatosis type 1 (NF1) disease, the loss of the tumor suppressor function of the neurofibromin gene leads to proliferation of neural tumors. In children, the most frequently identified tumor is the optic pathway glioma. CASE REPORT We describe the case of a 5-year-old child who was diagnosed with NF1 and optic pathway tumor onset at the age of 14 months. Because of the tumor progression, chemotherapy with carboplatin and vincristine was prescribed at this early age and continued for one year...
October 24, 2016: American Journal of Case Reports
https://www.readbyqxmd.com/read/27773571/nf1-is-a-direct-g-protein-effector-essential-for-opioid-signaling-to-ras-in-the-striatum
#7
Keqiang Xie, Lesley A Colgan, Maria T Dao, Brian S Muntean, Laurie P Sutton, Cesare Orlandi, Sanford L Boye, Shannon E Boye, Chien-Cheng Shih, Yuqing Li, Baoji Xu, Roy G Smith, Ryohei Yasuda, Kirill A Martemyanov
It is well recognized that G-protein-coupled receptors (GPCRs) can activate Ras-regulated kinase pathways to produce lasting changes in neuronal function. Mechanisms by which GPCRs transduce these signals and their relevance to brain disorders are not well understood. Here, we identify a major Ras regulator, neurofibromin 1 (NF1), as a direct effector of GPCR signaling via Gβγ subunits in the striatum. We find that binding of Gβγ to NF1 inhibits its ability to inactivate Ras. Deletion of NF1 in striatal neurons prevents the opioid-receptor-induced activation of Ras and eliminates its coupling to Akt-mTOR-signaling pathway...
November 21, 2016: Current Biology: CB
https://www.readbyqxmd.com/read/27688987/hypoplastic-internal-carotid-artery-co-presenting-with-neurofibromatosis-and-intracranial-masses
#8
Arvin R Wali, David R Santiago-Dieppa, Jeffrey A Steinberg, Ali Alattar, Vincent J Cheung, Royya Modir, Alexander A Khalessi, J Scott Pannell
Neurofibromatosis type 1 (NF1) is associated with systemic vascular disease, and it can also affect intracranial vasculature in a small percentage of patients. Very rarely, NF1 may co-present with hypoplasia of the internal carotid artery (ICA). Prior reports have documented NF1 with bilateral optic gliomas and a unilateral hypoplastic internal carotid artery; however, we report a case with the aforementioned findings in addition to a right-sided lentiform mass. This case report further suggests a common congenital pathway related to neurofibromin loss of function resulting in both nerve sheath tumors and cerebrovascular anomalies...
August 26, 2016: Curēus
https://www.readbyqxmd.com/read/27622733/neurofibromatosis-type-1-nf1-gene-beyond-caf%C3%A3-au-lait-spots-and-dermal-neurofibromas
#9
Sirkku Peltonen, Roope A Kallionpää, Juha Peltonen
Neurofibromatosis 1 (NF1) occurs in 1:2000 births. The main diagnostic signs are visible on the skin and this opens several interesting aspects for dermatological point of view. The NF1 syndrome is caused by mutations in the NF1 gene which encodes the tumor suppressor protein neurofibromin. Neurofibromin functions as a Ras-GTPase activating protein (RasGAP), and NF1 mutations lead to over-activation of the Ras signaling pathway. The NF1 gene and neurofibromin have intriguing functions in keratinocytes and melanocytes...
September 13, 2016: Experimental Dermatology
https://www.readbyqxmd.com/read/27559111/modeling-mesothelioma-utilizing-human-mesothelial-cells-reveals-involvement-of-phospholipase-c-beta-4-in-yap-active-mesothelioma-cell-proliferation
#10
Tatsuo Kakiuchi, Taishi Takahara, Yumiko Kasugai, Kotaro Arita, Noriaki Yoshida, Kennosuke Karube, Miyuki Suguro, Keitaro Matsuo, Hayao Nakanishi, Tohru Kiyono, Shigeo Nakamura, Hirotaka Osada, Yoshitaka Sekido, Masao Seto, Shinobu Tsuzuki
Mesotheliomas are frequently characterized by disruption of Hippo pathway due to deletion and/or mutation in genes, such as neurofibromin 2 (NF2). Hippo disruption attenuates yes-associated protein (YAP) phosphorylation allowing YAP to translocate to the nucleus and regulate gene expression. The role of disrupted Hippo pathway in maintenance of established mesotheliomas has been extensively investigated using cell lines; however, its involvement in development of human mesothelioma has not been explored much...
August 24, 2016: Carcinogenesis
https://www.readbyqxmd.com/read/27539476/protein-analysis-of-glioblastoma-primary-and-posttreatment-pairs-suggests-a-mesenchymal-shift-at-recurrence
#11
Matthew D Wood, Gerald F Reis, David E Reuss, Joanna J Phillips
Glioblastomas (GBM) are aggressive brain tumors that inevitably recur despite surgical resection, chemotherapy, and radiation. The degree to which recurrent GBM retains its initial immunophenotype is incompletely understood. We generated tissue microarrays of paired initial and posttreatment GBM (3 pairs positive and 17 negative for IDH1(R132H)) from the same patients and made comparisons in the IDH1(R132H)-negative group for immunohistochemical and gene expression differences between primary and recurrent tumors...
October 2016: Journal of Neuropathology and Experimental Neurology
https://www.readbyqxmd.com/read/27446380/a-novel-alternative-splicing-isoform-of-nf2-identified-in-human-schwann-cells
#12
Fang Su, Zhengguang Zhou, Wen Su, Zishu Wang, Qiong Wu
Vestibular schwannoma (VS) is a benign, slow-growing cranial tumor that originates from the hypertrophy of Schwann cells. The majority of sporadic VS are unilateral, and the mechanisms underlying VS tumorigenesis are not fully understood. The human neurofibromin 2 (NF2) gene encodes the tumor suppressor protein merlin and the NF2 transcript can be alternatively spliced to form numerous isoforms. The present study investigated human Schwann cells (HSCs) at the mRNA and protein level to understand the function of the alternative splicing (AS) isoform of NF2...
August 2016: Oncology Letters
https://www.readbyqxmd.com/read/27402866/nf2-activates-hippo-signaling-and-promotes-ischemia-reperfusion-injury-in-the-heart
#13
Takahisa Matsuda, Peiyong Zhai, Sebastiano Sciarretta, Yu Zhang, Jae Im Jeong, Shohei Ikeda, Jiyeon Park, Chiao-Po Hsu, Bin Tian, Duojia Pan, Junichi Sadoshima, Dominic P Del Re
RATIONALE: NF2 (neurofibromin 2) is an established tumor suppressor that promotes apoptosis and inhibits growth in a variety of cell types, yet its function in cardiomyocytes remains largely unknown. OBJECTIVE: We sought to determine the role of NF2 in cardiomyocyte apoptosis and ischemia/reperfusion (I/R) injury in the heart. METHODS AND RESULTS: We investigated the function of NF2 in isolated cardiomyocytes and mouse myocardium at baseline and in response to oxidative stress...
August 19, 2016: Circulation Research
https://www.readbyqxmd.com/read/27347193/neurofibromatosis-type-1-associated-with-pheochromocytoma-and-gastrointestinal-stromal-tumors-a-case-report-and-literature-review
#14
Dongfeng Pan, Peifeng Liang, Hongyan Xiao
Neurofibromatosis type 1 (NF1) is a genetic disorder associated with neurofibromin 1 (NF1) gene mutation, which generates an increased risk of variety of tumor types. The current study reports a case involving NF1, pheochromocytoma (PHEO) and gastrointestinal stromal tumors (GIST). A 56-year-old man presented with abdominal pain and polypnea. Clinical investigation revealed multiple diffuse soft-tissue lesions throughout his body, and pigmented macules on the skin. Imaging analyses revealed thoracic scoliosis, multiple subcutaneous nodules in the abdomen and trunk, and a 7...
July 2016: Oncology Letters
https://www.readbyqxmd.com/read/27345978/generation-of-kcl025-research-grade-human-embryonic-stem-cell-line-carrying-a-mutation-in-nf1-gene
#15
Heema Hewitson, Victoria Wood, Neli Kadeva, Glenda Cornwell, Stefano Codognotto, Emma Stephenson, Dusko Ilic
The KCL025 human embryonic stem cell line was derived from an embryo donated for research that carried an autosomal dominant mutation in the NF1 gene encoding neurofibromin (c.3739-3742 ΔTTTG). Mutations in this gene have been linked to neurofibromatosis type 1, juvenile myelomonocytic leukemia and Watson syndrome. The ICM was isolated using laser microsurgery and plated on γ-irradiated human foreskin fibroblasts. Both the derivation and cell line propagation were performed in an animal product-free environment...
March 2016: Stem Cell Research
https://www.readbyqxmd.com/read/27345975/generation-of-kcl024-research-grade-human-embryonic-stem-cell-line-carrying-a-mutation-in-nf1-gene
#16
Heema Hewitson, Victoria Wood, Neli Kadeva, Glenda Cornwell, Stefano Codognotto, Emma Stephenson, Dusko Ilic
The KCL024 human embryonic stem cell line was derived from an embryo donated for research that carried an autosomal dominant mutation in the NF1 gene encoding neurofibromin (c.3739-3742 ∆TTTG). Mutations in this gene have been linked to neurofibromatosis type 1, juvenile myelomonocytic leukemia and Watson syndrome. The ICM was isolated using laser microsurgery and plated on γ-irradiated human foreskin fibroblasts. Both the derivation and cell line propagation were performed in an animal product-free environment...
March 2016: Stem Cell Research
https://www.readbyqxmd.com/read/27313208/the-neurofibromin-recruitment-factor-spred1-binds-to-the-gap-related-domain-without-affecting-ras-inactivation
#17
Theresia Dunzendorfer-Matt, Ellen L Mercado, Karl Maly, Frank McCormick, Klaus Scheffzek
Neurofibromatosis type 1 (NF1) and Legius syndrome are related diseases with partially overlapping symptoms caused by alterations of the tumor suppressor genes NF1 (encoding the protein neurofibromin) and SPRED1 (encoding sprouty-related, EVH1 domain-containing protein 1, Spred1), respectively. Both proteins are negative regulators of Ras/MAPK signaling with neurofibromin functioning as a Ras-specific GTPase activating protein (GAP) and Spred1 acting on hitherto undefined components of the pathway. Importantly, neurofibromin has been identified as a key protein in the development of cancer, as it is genetically altered in a large number of sporadic human malignancies unrelated to NF1...
July 5, 2016: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/27266634/neurofibromin-is-a-novel-regulator-of-ras-induced-reactive-oxygen-species-production-in-mice-and-humans
#18
Waylan K Bessler, Farlyn Z Hudson, Hanfang Zhang, Valerie Harris, Yusi Wang, Julie A Mund, Brandon Downing, David A Ingram, Jamie Case, David J Fulton, Brian K Stansfield
Neurofibromatosis type 1 (NF1) predisposes individuals to early and debilitating cardiovascular disease. Loss of function mutations in the NF1 tumor suppressor gene, which encodes the protein neurofibromin, leads to accelerated p21(Ras) activity and phosphorylation of multiple downstream kinases, including Erk and Akt. Nf1 heterozygous (Nf1(+/-)) mice develop a robust neointima that mimics human disease. Monocytes/macrophages play a central role in NF1 arterial stenosis as Nf1 mutations in myeloid cells alone are sufficient to reproduce the enhanced neointima observed in Nf1(+/-) mice...
August 2016: Free Radical Biology & Medicine
https://www.readbyqxmd.com/read/27263935/neurofibromatosis-type-1-associated-low-grade-gliomas-a-comparison-with-sporadic-low-grade-gliomas
#19
REVIEW
Jelte Helfferich, Ronald Nijmeijer, Oebele F Brouwer, Maartje Boon, Annemarie Fock, Eelco W Hoving, Lisethe Meijer, Wilfred F A den Dunnen, Eveline S J M de Bont
Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder, associated with a variable clinical phenotype including café-au-lait spots, intertriginous freckling, Lisch nodules, neurofibromas, optic pathway gliomas and distinctive bony lesions. NF1 is caused by a mutation in the NF1 gene, which codes for neurofibromin, a large protein involved in the MAPK- and the mTOR-pathway through RAS-RAF signalling. NF1 is a known tumour predisposition syndrome, associated with different tumours of the nervous system including low grade gliomas (LGGs) in the paediatric population...
August 2016: Critical Reviews in Oncology/hematology
https://www.readbyqxmd.com/read/27244099/frequency-of-telomerase-reverse-transcripter-promoter-mutations-in-desmoplastic-melanoma-subtypes-analyses-of-76-cases
#20
Shi Yang, Dominick Leone, Noah Frydenlund, Mai Hoang, April Deng, Marier Hernandez-Perez, Asok Biswas, Rajendra Singh, Ron Yaar, Meera Mahalingam
Estimates of the frequency of telomerase reverse transcripter (TERT) mutations in desmoplastic melanoma (DM) are limited. DM is categorized into subtypes, pure and mixed, differing in prognosis, suggesting genetic heterogeneity. Given this, our aims were to determine the incidence of TERT promoter mutations in DM subtypes and to evaluate its relationship with established histopathologic prognosticators, BRAF and RETp status, and neurofibromin protein expression. Of the archival annotated samples retrieved, 76 cases of DM (48 pure and 28 mixed) fulfilled the criteria for inclusion...
August 2016: Melanoma Research
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