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https://www.readbyqxmd.com/read/27905021/netherton-syndrome-a-genotype-phenotype-review
#1
REVIEW
Constantina A Sarri, Angeliki Roussaki-Schulze, Yiannis Vasilopoulos, Efterpi Zafiriou, Aikaterini Patsatsi, Costas Stamatis, Polyxeni Gidarokosta, Dimitrios Sotiriadis, Theologia Sarafidou, Zissis Mamuris
Netherton syndrome (OMIM #256500) is a rare but severe autosomal recessive form of ichthyosis that affects the skin, hair, and immune system. The identification of SPINK5, which encodes for the serine protease inhibitor LEKTI, as the gene responsible for Netherton syndrome, enabled the search for causative mutations in Netherton syndrome patients and families. However, information regarding these mutations and their association with the pathological Netherton syndrome phenotype is scarce. Herein, we provide an up-to-date overview of 80 different mutations in exonic as well as intronic regions that have been currently identified in 172 homozygous or compound heterozygous patients from 144 families...
November 30, 2016: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/27899591/modulation-of-nonsense-mediated-decay-by-rapamycin
#2
Rocio T Martinez-Nunez, Andrew Wallace, Doyle Coyne, Linnea Jansson, Miles Rush, Hanane Ennajdaoui, Sol Katzman, Joanne Bailey, Katrin Deinhardt, Tilman Sanchez-Elsner, Jeremy R Sanford
Rapamycin is a naturally occurring macrolide whose target is at the core of nutrient and stress regulation in a wide range of species. Despite well-established roles as an inhibitor of cap-dependent mRNA translation, relatively little is known about its effects on other modes of RNA processing. Here, we characterize the landscape of rapamycin-induced post-transcriptional gene regulation. Transcriptome analysis of rapamycin-treated cells reveals genome-wide changes in alternative mRNA splicing and pronounced changes in NMD-sensitive isoforms...
November 28, 2016: Nucleic Acids Research
https://www.readbyqxmd.com/read/27886258/a-holistic-approach-to-dissecting-sparc-family-protein-complexity-reveals-fstl-1-as-an-inhibitor-of-pancreatic-cancer-cell-growth
#3
Katrina Viloria, Amanda Munasinghe, Sharan Asher, Roberto Bogyere, Lucy Jones, Natasha J Hill
SPARC is a matricellular protein that is involved in both pancreatic cancer and diabetes. It belongs to a wider family of proteins that share structural and functional similarities. Relatively little is known about this extended family, but evidence of regulatory interactions suggests the importance of a holistic approach to their study. We show that Hevin, SPOCKs, and SMOCs are strongly expressed within islets, ducts, and blood vessels, suggesting important roles for these proteins in the normal pancreas, while FSTL-1 expression is localised to the stromal compartment reminiscent of SPARC...
November 25, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27881644/suppression-of-adenovirus-replication-by-cardiotonic-steroids
#4
Filomena Grosso, Peter Stoilov, Clifford Lingwood, Martha Brown, Alan Cochrane
: The dependence of adenovirus on the host pre-RNA splicing machinery for expression of its complete genome, potentially makes it vulnerable to modulators of RNA splicing, such as digoxin and digitoxin. Both drugs reduced the yield of four adenoviruses (HAdV-A31, B35, C5 and a species D conjunctivitis isolate) by at least 2- 3 logs by affecting one or more steps needed for genome replication. Immediate early E1A protein levels are unaffected by the drugs, but synthesis of the delayed protein E4orf6 and the major late capsid protein, hexon, are compromised...
November 23, 2016: Journal of Virology
https://www.readbyqxmd.com/read/27879367/alternative-splicing-of-ezh2-pre-mrna-by-sf3b3-contributes-to-the-tumorigenic-potential-of-renal-cancer
#5
Ke Chen, Haibing Xiao, Jin Zeng, Gan Yu, Hui Zhou, Chunhua Huang, Weimin Yao, Wei Xiao, Junhui Hu, Wei Guan, Lily Wu, Jiaoti Huang, Qihong Huang, Hua Xu, Zhangqun Ye
PURPOSE: Deregulation or mutation of the EZH2 gene causes various tumors, including ccRCC. Although several splice variants of EZH2 have been identified, little is known about how EZH2 splicing is regulated or the contribution of alternative splicing to its pro-tumorigenic functions. EXPERIMENTAL DESIGN: We conducted RT-PCR, western blot and immunohistochemistry techniques, to examine EZH2 and its alternative splicing transcript expression in renal cancer tissue and renal cancer cell lines...
November 22, 2016: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/27866044/alternative-splicing-of-smpd1-coding-for-acid-sphingomyelinase-in-major-depression
#6
Cosima Rhein, Martin Reichel, Marcel Kramer, Andrea Rotter, Bernd Lenz, Christiane Mühle, Erich Gulbins, Johannes Kornhuber
BACKGROUND: Major depressive disorder (MDD) is a psychiatric disorder characterized by key symptoms that include depressed mood and a loss of interest and pleasure. A recently developed pathogenic model of MDD involves disturbed neurogenesis in the hippocampus, where the acid sphingomyelinase (ASM)/ceramide system plays an important role and is proposed as a molecular target for antidepressant action. Because alternative splicing of SMPD1 mRNA, coding for ASM, is relevant for the regulation of ASM enzymatic activity, we investigated the frequency of alternatively spliced ASM isoforms in peripheral blood cells of MDD patients versus healthy controls...
September 28, 2016: Journal of Affective Disorders
https://www.readbyqxmd.com/read/27865709/defective-splicing-of-the-background-k-channel-k2p5-1-by-the-pre-mrna-splicing-inhibitor-pladienolide-b-in-lectin-activated-mouse-splenic-cd4-t-cells
#7
Kazutaka Tagishi, Ayaka Shimizu, Kyoko Endo, Hiroaki Kito, Satomi Niwa, Masanori Fujii, Susumu Ohya
The two-pore domain K(+) channel K2P5.1 has been implicated in the pathogenesis of autoimmune diseases. We investigated the changes in K2P5.1 activity caused by a defect in normal pre-mRNA splicing in concanavalin A-activated mouse splenic CD4(+) T cells. The pre-mRNA splicing inhibitor, pladienolide B (1 μM) markedly decreased full-length K2P5.1 transcription in activated CD4(+) T cells, resulting in the disappearance of K2P5.1 activity and an imbalance in Th17 and Treg cytokines. These results suggest that the defect in K2P5...
November 2016: Journal of Pharmacological Sciences
https://www.readbyqxmd.com/read/27853103/endoplasmic-reticulum-stress-is-involved-in-2-4-dichlorophenol-induced-hepatotoxicity
#8
Jianbo Fu, Xiaoning Zhang, Peng Chen, Yingmei Zhang
2,4-Dichlorophenol (2,4-DCP) is an environmental pollutant exhibiting a wide spectrum of toxic effects. We investigated the toxic effects and potential mechanisms underlying 2,4-DCP-induced hepatotoxicity. In vitro, 2,4-DCP caused hepatotoxicity manifested by a decrease in cell viability and inhibition of colony formation. Bip and CHOP expression was up-regulated at the mRNA and protein levels. Moreover, 2,4-DCP induced eIF2α phosphorylation and Xbp1 mRNA splicing, indicating that endoplasmic reticulum (ER) stress was activated after exposure of HL7702 cells to 2,4-DCP for 12 hr...
2016: Journal of Toxicological Sciences
https://www.readbyqxmd.com/read/27836698/biochemical-characterization-of-a-new-mitochondrial-transporter-of-dephosphocoenzyme-a-in-drosophila-melanogaster
#9
Angelo Vozza, Francesco De Leonardis, Eleonora Paradies, Anna De Grassi, Ciro Leonardo Pierri, Giovanni Parisi, Carlo Marya Thomas Marobbio, Francesco Massimo Lasorsa, Luigina Muto, Loredana Capobianco, Vincenza Dolce, Susanna Raho, Giuseppe Fiermonte
CoA is an essential cofactor that holds a central role in cell metabolism. Although its biosynthetic pathway is conserved across the three domains of life, the subcellular localization of the eukaryotic biosynthetic enzymes and the mechanism behind the cytosolic and mitochondrial CoA pools compartmentalization are still under debate. In humans, the transport of CoA across the inner mitochondrial membrane has been ascribed to two related genes, SLC25A16 and SLC25A42 whereas in D. melanogaster genome only one gene is present, CG4241, phylogenetically closer to SLC25A42...
November 8, 2016: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/27834212/preclinical-efficacy-of-a-raf-inhibitor-that-evades-paradoxical-mapk-pathway-activation-in-protein-kinase-braf-mutant-lung-cancer
#10
Ross A Okimoto, Luping Lin, Victor Olivas, Elton Chan, Evan Markegard, Andrey Rymar, Dana Neel, Xiao Chen, Golzar Hemmati, Gideon Bollag, Trever G Bivona
Oncogenic activation of protein kinase BRAF drives tumor growth by promoting mitogen-activated protein kinase (MAPK) pathway signaling. Because oncogenic mutations in BRAF occur in ∼2-7% of lung adenocarcinoma (LA), BRAF-mutant LA is the most frequent cause of BRAF-mutant cancer mortality worldwide. Whereas most tumor types harbor predominantly the BRAF(V600E)-mutant allele, the spectrum of BRAF mutations in LA includes BRAF(V600E) (∼60% of cases) and non-V600E mutant alleles (∼40% of cases) such as BRAF(G469A) and BRAF(G466V) The presence of BRAF(V600E) in LA has prompted clinical trials testing selective BRAF inhibitors such as vemurafenib in BRAF(V600E)-mutant patients...
November 22, 2016: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/27827994/ibtk-differently-modulates-gene-expression-and-rna-splicing-in-hela-and-k562-cells
#11
Giuseppe Fiume, Annarita Scialdone, Francesca Rizzo, Maria Rosaria De Filippo, Carmelo Laudanna, Francesco Albano, Gaetanina Golino, Eleonora Vecchio, Marilena Pontoriero, Selena Mimmi, Simona Ceglia, Antonio Pisano, Enrico Iaccino, Camillo Palmieri, Sergio Paduano, Giuseppe Viglietto, Alessandro Weisz, Giuseppe Scala, Ileana Quinto
The IBTK gene encodes the major protein isoform IBTKα that was recently characterized as substrate receptor of Cul3-dependent E3 ligase, regulating ubiquitination coupled to proteasomal degradation of Pdcd4, an inhibitor of translation. Due to the presence of Ankyrin-BTB-RCC1 domains that mediate several protein-protein interactions, IBTKα could exert expanded regulatory roles, including interaction with transcription regulators. To verify the effects of IBTKα on gene expression, we analyzed HeLa and K562 cell transcriptomes by RNA-Sequencing before and after IBTK knock-down by shRNA transduction...
November 7, 2016: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/27826534/fusion-gene-and-splice-variant-analyses-in-liquid-biopsies-of-lung-cancer-patients
#12
REVIEW
Cristina Aguado, Ana Giménez-Capitán, Niki Karachaliou, Ana Pérez-Rosado, Santiago Viteri, Daniela Morales-Espinosa, Rafael Rosell
Obtaining a biopsy of solid tumors requires invasive procedures that strongly limit patient compliance. In contrast, a blood extraction is safe, can be performed at many time points during the course disease and encourages appropriate therapy modifications, potentially improving the patient's clinical outcome and quality of life. Fusion of the tyrosine kinase genes anaplastic lymphoma kinase (ALK), C-ROS oncogen 1 (ROS 1), rearranged during transfection (RET) and neurotrophic tyrosine kinase 1 (NTRK1) occur in 1-5% of lung adenocarcinomas and constitute therapeutic targets for tyrosine kinase inhibitors...
October 2016: Translational Lung Cancer Research
https://www.readbyqxmd.com/read/27822685/sequencing-treatment-for-castration-resistant-prostate-cancer
#13
REVIEW
Catherine E Handy, Emmanuel S Antonarakis
Prostate cancer is the most common non-cutaneous cancer diagnosed in men and the second leading cause of male cancer deaths in the USA. While most cases are diagnosed in early stages, some will present as or progress to metastatic disease and eventually castration-resistant prostate cancer (mCRPC) which has a mortality rate exceeding 50 %. There are currently six approved systemic life-prolonging therapies for use in mCRPC, yet little data to guide sequencing. Clinical factors, including the presence or absence of symptoms and the presence or absence of visceral metastases, should help determine the best therapeutic choice at each treatment node...
December 2016: Current Treatment Options in Oncology
https://www.readbyqxmd.com/read/27806325/inhibiting-glutaminase-in-acute-myeloid-leukemia-metabolic-dependency-of-selected-aml-subtypes
#14
Polina Matre, Juliana Velez, Rodrigo Jacamo, Yuan Qi, Xiaoping Su, Tianyu Cai, Steven M Chan, Alessia Lodi, Shannon R Sweeney, Helen Ma, Richard Eric Davis, Natalia Baran, Torsten Haferlach, Xiaohua Su, Elsa Renee Flores, Doriann Gonzalez, Sergej Konoplev, Ismael Samudio, Courtney DiNardo, Ravi Majeti, Aaron D Schimmer, Weiqun Li, Taotao Wang, Stefano Tiziani, Marina Konopleva
Metabolic reprogramming has been described as a hallmark of transformed cancer cells. In this study, we examined the role of the glutamine (Gln) utilization pathway in acute myeloid leukemia (AML) cell lines and primary AML samples. Our results indicate that a subset of AML cell lines is sensitive to Gln deprivation. Glutaminase (GLS) is a mitochondrial enzyme that catalyzes the conversion of Gln to glutamate. One of the two GLS isoenzymes, GLS1 is highly expressed in cancer and encodes two different isoforms: kidney (KGA) and glutaminase C (GAC)...
October 27, 2016: Oncotarget
https://www.readbyqxmd.com/read/27798881/expression-of-the-p53-inhibitors-mdm2-and-mdm4-as-outcome-predictor-in-muscle-invasive-bladder-cancer
#15
Maximilian Christian Kriegmair, Matthias Balk, Ralph Wirtz, Annette Steidler, Cleo-Aron Weis, Johannes Breyer, Arndt Hartmann, Christian Bolenz, Philipp Erben
AIM: To evaluate the prognostic role of the p53-upstream inhibitors MDM2, MDM4 and its splice variant MDM4-S in patients undergoing radical cystectomy (RC) for muscle-invasive bladder cancer (MIBC). MATERIALS AND METHODS: mRNA Expression levels of MDM2, MDM4 and MDM4-S were assessed by quantitative real-time polymerase chain reaction (qRT-PCR) in 75 RC samples. Logistic regression analyses identified predictors of recurrence-free (RFS) and cancer-specific survival (CSS)...
October 2016: Anticancer Research
https://www.readbyqxmd.com/read/27796758/circular-rnas-the-emerging-class-of-non-coding-rnas-and-their-potential-role-in-human-neurodegenerative-diseases
#16
REVIEW
Lalit Kumar, Shamsuzzama, Rizwanul Haque, Tanvi Baghel, Aamir Nazir
The exciting world of research with RNAs has to its credit some breakthrough findings that led to newer insights on multiple problems including that of human diseases. After the advent of siRNA, microRNA, and lncRNA, exciting novel molecules called circular RNAs (circRNAs) have been recently described. circRNAs are a class of non-coding RNAs, which are produced by scrambling of exons at the time of splicing. They are primarily produced in the brain region and are naturally present inside the cell. The best known ones so far include a particular type of circRNA namely "circular RNA sponge for miR-7" (ciRS-7 and CDR1as) which is the inhibitor of miR-7 microRNA-known to regulate various diseases like, cancer, neurodegenerative diseases, diabetes, and atherosclerosis...
October 29, 2016: Molecular Neurobiology
https://www.readbyqxmd.com/read/27796462/novel-mutations-in-serpinf1-result-in-rare-osteogenesis-imperfecta-type-vi
#17
Jian-Yi Wang, Yi Liu, Li-Jie Song, Fang Lv, Xiao-Jie Xu, A San, Jian Wang, Huan-Ming Yang, Zi-Ying Yang, Yan Jiang, Ou Wang, Wei-Bo Xia, Xiao-Ping Xing, Mei Li
Osteogenesis imperfecta (OI) is a group of inherited disorders characterized by recurrent fragile fractures. Serpin peptidase inhibitor, clade F, member 1 (SERPINF1) is known to cause a distinct, extremely rare autosomal recessive form of type VI OI. Here we report, for the first time, the detection of SERPINF1 mutations in Chinese OI patients. We designed a novel targeted next-generation sequencing panel of OI-related genes to identify pathogenic mutations, which were confirmed with Sanger sequencing and by co-segregation analysis...
October 28, 2016: Calcified Tissue International
https://www.readbyqxmd.com/read/27791185/control-of-embryonic-stem-cell-self-renewal-and-differentiation-via-coordinated-alternative-splicing-and-translation-of-yy2
#18
Soroush Tahmasebi, Seyed Mehdi Jafarnejad, Ingrid S Tam, Thomas Gonatopoulos-Pournatzis, Edna Matta-Camacho, Yoshinori Tsukumo, Akiko Yanagiya, Wencheng Li, Yaser Atlasi, Maxime Caron, Ulrich Braunschweig, Dana Pearl, Arkady Khoutorsky, Christos G Gkogkas, Robert Nadon, Guillaume Bourque, Xiang-Jiao Yang, Bin Tian, Hendrik G Stunnenberg, Yojiro Yamanaka, Benjamin J Blencowe, Vincent Giguère, Nahum Sonenberg
Translational control of gene expression plays a key role during the early phases of embryonic development. Here we describe a transcriptional regulator of mouse embryonic stem cells (mESCs), Yin-yang 2 (YY2), that is controlled by the translation inhibitors, Eukaryotic initiation factor 4E-binding proteins (4E-BPs). YY2 plays a critical role in regulating mESC functions through control of key pluripotency factors, including Octamer-binding protein 4 (Oct4) and Estrogen-related receptor-β (Esrrb). Importantly, overexpression of YY2 directs the differentiation of mESCs into cardiovascular lineages...
November 1, 2016: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/27776450/the-isoflavone-fraction-from-soybean-presents-mrna-maturation-inhibition-activity
#19
Masashi Kurata, Yuki Murata, Keiko Momma, Intisar Fouad Ali Mursi, Masakazu Takahashi, Yusaku Miyamae, Taiho Kambe, Masaya Nagao, Hiroshi Narita, Yasuyuki Shibuya, Seiji Masuda
Recent findings indicate that mRNA splicing inhibitors can be potential anticancer candidates. We have previously established a screening system which monitors mRNA processing in order to identify mRNA processing inhibitors. Among a number of dietary resources, isoflavone fractions showed an inhibitory effect of mRNA processing. These findings demonstrate that a variety of dietary sources have an impact on mRNA biogenesis.
October 25, 2016: Bioscience, Biotechnology, and Biochemistry
https://www.readbyqxmd.com/read/27770503/survivin-isoform-expression-in-arsenic-trioxide-treated-acute-promyelocytic-leukemia-cell-line-and-patients-the-odd-expression-pattern-of-survivin-2%C3%AE
#20
Majid Zaki Dizaji, Seyed H Ghaffari, Elham Hosseini, Nasrin Alizadeh, Shahrbano Rostami, Majid Momeny, Kamran Alimoghaddam, Ardeshir Ghavamzadeh
AIM: Survivin, an inhibitor of apoptosis protein, is overexpressed in most cancers and is associated with chemotherapy resistance, increased tumor recurrence and shorter patient survival. Several survivin splice variants have been described, and none of their expressions have been defined in acute promyelocytic leukemia (APL). METHODS: Expression of the survivin gene isoforms (survivin, -2α, -2B, -ΔΕx3 and -3B) were analyzed in 50 peripheral blood and 19 bone marrow samples that were collected at different phases of the disease (diagnostic, remission and relapse) in APL patients treated with arsenic trioxide (ATO) as a front-line therapy...
October 22, 2016: Asia-Pacific Journal of Clinical Oncology
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