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https://www.readbyqxmd.com/read/29785135/mutation-analysis-of-brca1-2-mutations-with-special-reference-to-polymorphic-snps-in-indian-breast-cancer-patients
#1
Nidhi D Shah, Parth S Shah, Yash Y Panchal, Kalpesh H Katudia, Nikunj B Khatri, Hari Shankar P Ray, Upti R Bhatiya, Sandip C Shah, Bhavini S Shah, Mandava V Rao
Background: Germline mutations BRCA1 and BRCA2 contribute almost equally in the causation of breast cancer (BC). The type of mutations in the Indian population that cause this condition is largely unknown. Purpose: In this cohort, 79 randomized BC patients were screened for various types of BRCA1 and BRCA2 mutations including frameshift, nonsense, missense, in-frame and splice site types. Materials and methods: The purified extracted DNA of each referral patient was subjected to Sanger gene sequencing using Codon Code Analyzer and Mutation Surveyor and next-generation sequencing (NGS) methods with Ion torrent software, after appropriate care...
2018: Application of Clinical Genetics
https://www.readbyqxmd.com/read/29784668/centrosome-linker-induced-tetraploid-segregation-errors-link-rhabdoid-phenotypes-and-lethal-colorectal-cancers
#2
Andrea Remo, Erminia Manfrin, Pietro Parcesepe, Alberto Ferrarini, Hye Seung Han, Mickys Ugnius, Carmelo Laudanna, Michele Simbolo, Donatella Malanga, Duarte Mendes Oliveira, Elisabetta Baritono, Tommaso Colangelo, Lina Sabatino, Jacopo Giuliani, Enrico Molinari, Marianna Garonzi, Luciano Xumerle, Massimo Delledonne, Guido Giordano, Claudio Ghimenton, Fortunato Lonardo, Fulvio D'angelo, Federica Grillo, Luca Mastracci, Giuseppe Viglietto, Michele Ceccarelli, Vittorio Colantuoni, Aldo Scarpa, Massimo Pancione
Centrosome anomalies contribute to tumorigenesis but it remains unclear how they are generated in lethal cancer phenotypes. Here, it is demonstrated that human microsatellite instable (MSI) and BRAF(V600E) mutant colorectal cancers with a lethal rhabdoid phenotype are characterized by inactivation of centrosomal functions. A splice site mutation that causes an unbalanced dosage of rootletin (CROCC), a centrosomal-linker component required for centrosome cohesion and separation at the chromosome 1p36.13 locus, resulted in abnormally shaped centrosomes in rhabdoid cells from human colon tissues...
May 21, 2018: Molecular Cancer Research: MCR
https://www.readbyqxmd.com/read/29782621/darpp-32-and-t-darpp-promote-non-small-cell-lung-cancer-growth-through-regulation-of-ikk%C3%AE-dependent-cell-migration
#3
Sk Kayum Alam, Matteo Astone, Ping Liu, Stephanie R Hall, Abbygail M Coyle, Erin N Dankert, Dane K Hoffman, Wei Zhang, Rui Kuang, Anja C Roden, Aaron S Mansfield, Luke H Hoeppner
Lung cancer is the leading cause of cancer-related death worldwide. Here we demonstrate that elevated expression of dopamine and cyclic adenosine monophosphate-regulated phosphoprotein, Mr 32000 (DARPP-32) and its truncated splice variant t-DARPP promote lung tumor growth, while abrogation of DARPP-32 expression in human non-small cell lung cancer (NSCLC) cells reduces tumor growth in orthotopic mouse models. We observe a novel physical interaction between DARPP-32 and inhibitory kappa B kinase-α (IKKα) that promotes NSCLC cell migration through non-canonical nuclear factor kappa-light-chain-enhancer of activated B cells 2 (NF-κB2) signaling...
2018: Communications biology
https://www.readbyqxmd.com/read/29777904/axed-muc4-muc4-x-aggravates-pancreatic-malignant-phenotype-by-activating-integrin-%C3%AE-1-fak-erk-pathway
#4
Rahat Jahan, Muzafar A Macha, Satyanarayana Rachaghani, Srustidhar Das, Lynette M Smith, Sukhwinder Kaur, Surinder K Batra
Alternative splicing is evolving as an eminent player of oncogenic signaling for tumor development and progression. Mucin 4 (MUC4), a type I membrane-bound mucin, is differentially expressed in pancreatic cancer (PC) and plays a critical role in its progression and metastasis. However, the molecular implications of MUC4 splice variants during disease pathogenesis remain obscure. The present study delineates the pathological and molecular significance of a unique splice variant of MUC4, MUC4/X, which lacks the largest and polymorphic exon 2, along with exon 3...
May 16, 2018: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/29773669/unresolved-endoplasmic-reticulum-stress-engenders-immune-resistant-latent-pancreatic-cancer-metastases
#5
Arnaud Pommier, Naishitha Anaparthy, Nicoletta Memos, Z Larkin Kelley, Alizée Gouronnec, Ran Yan, Cédric Auffray, Jean Albrengues, Mikala Egeblad, Christine A Iacobuzio-Donahue, Scott K Lyons, Douglas T Fearon
The majority of patients with pancreatic ductal adenocarcinoma (PDA) develop metastatic disease after resection of their primary tumor. We found that livers from patients and mice with PDA harbor single, disseminated cancer cells (DCCs) lacking expression of cytokeratin-19 (CK19) and major histocompatibility complex class I (MHCI). We created a mouse model to determine how these DCCs develop. Intra-portal injection of immunogenic PDA cells into pre-immunized mice seeded livers only with single, non-replicating DCCs that were CK19- and MHCI- The DCCs exhibited an endoplasmic reticulum (ER) stress response but, paradoxically lacked both inositol-requiring enzyme 1α activation and expression of the spliced form of transcription factor XBP1 (XBP1s)...
May 17, 2018: Science
https://www.readbyqxmd.com/read/29772419/duality-of-estrogen-receptor-%C3%AE-action-in-cancer-progression
#6
REVIEW
T C Guillette, Thomas W Jackson, Scott M Belcher
The physiological actions of estrogens are primarily mediated by the nuclear hormone receptors estrogen receptor alpha (ERα) and beta (ERβ). Activities of these nuclear steroid hormone receptors in etiology and progression of many hormone-responsive cancers are well-established, yet the specific role of each receptor, and their various expressed isoforms, in estrogen-responsive cancers remains unclear. Recent advances in nuclear receptor profiling, characterization of expressed splice variants, and the availability of new experimental cancer models, has extended the understanding of the complex interplay between the differentially expressed nuclear estrogen receptors...
May 14, 2018: Current Opinion in Pharmacology
https://www.readbyqxmd.com/read/29771377/alternative-splicing-analysis-in-human-monocytes-and-macrophages-reveals-mbnl1-as-major-regulator
#7
Hongfei Liu, Paolo A Lorenzini, Fan Zhang, Shaohai Xu, Mei Su M Wong, Jie Zheng, Xavier Roca
We report the detailed transcriptomic profiles of human innate myeloid cells using RNA sequencing. Monocytes migrate from blood into infected or wounded tissue to differentiate into macrophages, and control inflammation via phagocytosis or cytokine secretion. We differentiated culture primary monocytes with either GM- or M-CSF to obtain pro- or anti-inflammatory macrophages, and respectively activated them with either LPS/IFNγ or anti-inflammatory cytokines. We also treated the THP-1 monocytic cell line with PMA and similar cytokines to mimic differentiation and activation...
May 16, 2018: Nucleic Acids Research
https://www.readbyqxmd.com/read/29770900/insights-into-mutation-effect-in-three-poikiloderma-with-neutropenia-patients-by-transcript-analysis-and-disease-evolution-of-reported-patients-with-the-same-pathogenic-variants
#8
Elisa A Colombo, Nursel H Elcioglu, Claudio Graziano, Pamela Farinelli, Elisabetta Di Fede, Iria Neri, Elena Facchini, Mariangela Greco, Cristina Gervasini, Lidia Larizza
PURPOSE: Poikiloderma with neutropenia (PN) is a genodermatosis currently described in 77 patients, all presenting with early-onset poikiloderma, neutropenia, and several additional signs. Biallelic loss-of-function mutations in USB1 gene are detected in all molecularly tested patients but genotype-phenotype correlation remains elusive. Cancer predisposition is recognized among PN features and pathogenic variants found in patients who developed early in life myelodysplasia (n = 12), acute myeloid leukemia (n = 2), and squamous cell carcinoma (n = 2) should be kept into account in management and follow-up of novel patients...
May 16, 2018: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/29770522/conclusive-evidence-for-oct4-transcription-in-human-cancer-cell-lines-possible-role-of-a-small-oct4-positive-cancer-cell-population
#9
Tomoyuki Miyamoto, Nobuhiko Mizuno, Mitsuko Kosaka, Yoko Fujitani, Eiji Ohno, Aiji Ohtsuka
The role of octamer-binding transcription factor 4 (OCT4) in human cancer is still debated. Although many studies have been published on human OCT4, determining which of the findings are accurate or which are false-positives is currently challenging. We thus developed the most reliable method to date for highly specific and comprehensive detection of genuine OCT4-transcript variants without false-positive results. Our results provided clear evidence that the transcripts of OCT4A, OCT4B, OCT4B1 and other novel splicing variants are indeed present in many cancer cell lines, but are rarely detected in normal tissue-derived differentiated cells...
May 17, 2018: Stem Cells
https://www.readbyqxmd.com/read/29770436/all-i-s-on-the-radar-role-of-adar-in-gene-regulation
#10
REVIEW
Galina Shevchenko, Kevin V Morris
Adenosine to inosine (A-to-I) editing is the most abundant form of RNA modification in mammalian cells, which is catalyzed by adenosine deaminase acting on the double-stranded RNA (ADAR) protein family. A-to-I editing is currently known to be involved in the regulation of the immune system, RNA splicing, protein recoding, microRNA biogenesis, and formation of heterochromatin. Editing occurs within regions of double-stranded RNA, particularly within inverted Alu repeats, and is associated with many diseases including cancer, neurological disorders, and metabolic syndromes...
May 16, 2018: FEBS Letters
https://www.readbyqxmd.com/read/29769258/anti-tumor-efficacy-of-a-novel-clk-inhibitor-via-targeting-rna-splicing-and-myc-dependent-vulnerability
#11
Kenichi Iwai, Masahiro Yaguchi, Kazuho Nishimura, Yukiko Yamamoto, Toshiya Tamura, Daisuke Nakata, Ryo Dairiki, Yoichi Kawakita, Ryo Mizojiri, Yoshiteru Ito, Moriteru Asano, Hironobu Maezaki, Yusuke Nakayama, Misato Kaishima, Kozo Hayashi, Mika Teratani, Shuichi Miyakawa, Misa Iwatani, Maki Miyamoto, Michael G Klein, Wes Lane, Gyorgy Snell, Richard Tjhen, Xingyue He, Sai Pulukuri, Toshiyuki Nomura
The modulation of pre-mRNA splicing is proposed as an attractive anti-neoplastic strategy, especially for the cancers that exhibit aberrant pre-mRNA splicing. Here, we discovered that T-025 functions as an orally available and potent inhibitor of Cdc2-like kinases (CLKs), evolutionally conserved kinases that facilitate exon recognition in the splicing machinery. Treatment with T-025 reduced CLK-dependent phosphorylation, resulting in the induction of skipped exons, cell death, and growth suppression in vitro and in vivo Further, through growth inhibitory characterization, we identified high CLK2 expression or MYC amplification as a sensitive-associated biomarker of T-025...
May 16, 2018: EMBO Molecular Medicine
https://www.readbyqxmd.com/read/29764864/targeting-the-hsp40-hsp70-chaperone-axis-as-a-novel-strategy-to-treat-castration-resistant-prostate-cancer
#12
Michael A Moses, Yeong Sang Kim, Genesis M Rivera-Marquez, Nobu Oshima, Matthew J Watson, Kristin Beebe, Catherine Wells, Sunmin Lee, Abbey D Zuehlke, Hao Shao, William E Bingman, Vineet Kumar, Sanjay Malhotra, Nancy L Weigel, Jason E Gestwicki, Jane Trepel, Leonard M Neckers
Castration-resistant prostate cancer (CRPC) is characterized by reactivation of androgen receptor (AR) signaling in part by elevated expression of AR splice variants (ARv) including ARv7, a constitutively active, ligand binding domain (LBD)-deficient variant whose expression has been correlated with therapeutic resistance and poor prognosis. In a screen to identify small molecule dual inhibitors of both androgen-dependent and androgen-independent AR gene signatures, we identified the chalcone C86. Binding studies using purified proteins and CRPC cell lysates revealed C86 to interact with heat shock protein 40 (Hsp40)...
May 15, 2018: Cancer Research
https://www.readbyqxmd.com/read/29760584/lsd1-inhibition-attenuates-androgen-receptor-v7-splice-variant-activation-in-castration-resistant-prostate-cancer-models
#13
Sergio Regufe da Mota, Sarah Bailey, Rosemary A Strivens, Annette L Hayden, Leon R Douglas, Patrick J Duriez, M Teresa Borrello, Hanae Benelkebir, A Ganesan, Graham Packham, Simon J Crabb
Background: Castrate resistant prostate cancer (CRPC) is often driven by constitutively active forms of the androgen receptor such as the V7 splice variant (AR-V7) and commonly becomes resistant to established hormonal therapy strategies such as enzalutamide as a result. The lysine demethylase LSD1 is a co-activator of the wild type androgen receptor and a potential therapeutic target in hormone sensitive prostate cancer. We evaluated whether LSD1 could also be therapeutically targeted in CRPC models driven by AR-V7...
2018: Cancer Cell International
https://www.readbyqxmd.com/read/29759485/roles-of-alternative-rna-splicing-of-the-bif-1-gene-by-srrm4-during-the-development-of-treatment-induced-neuroendocrine-prostate-cancer
#14
Yu Gan, Yinan Li, Zhi Long, Ahn R Lee, Ning Xie, Jessica M Lovnicki, Yuxin Tang, Xiang Chen, Jiaoti Huang, Xuesen Dong
Treatment-induced neuroendocrine prostate cancer (t-NEPC) is an aggressive subtype of prostate cancer (PCa) that becomes more prevalent when hormonal therapy, chemotherapy, or radiation therapy is applied to patients with metastatic prostate adenocarcinoma (AdPC). How AdPC cells survive these anti-cancer therapies and progress into t-NEPC remains unclear. By comparing the whole transcriptomes between AdPC and t-NEPC, we identified Bif-1, an apoptosis-associated gene, which undergoes alternative RNA splicing in t-NEPC...
May 11, 2018: EBioMedicine
https://www.readbyqxmd.com/read/29755673/role-of-epigenetic-factors-in-the-selection-of-the-alternative-splicing-isoforms-of-human-kras-in-colorectal-cancer-cell-lines
#15
Ángela L Riffo-Campos, Francisco Gimeno-Valiente, Fernanda M Rodríguez, Andrés Cervantes, Gerardo López-Rodas, Luis Franco, Josefa Castillo
Mutation-driven activation of KRAS is crucial to cancer development. The human gene yields four mRNA splicing isoforms, 4A and 4B being translated to protein. Their different properties and oncogenic potential have been studied, but the mechanisms deciding the ratio 4A/4B are not known. To address this issue, the expression of the four KRAS isoforms was determined in 9 human colorectal cancer cell lines. HCT116 and SW48 were further selected because they present the highest difference in the ratio 4A/4B (twice as much in HCT116 than in SW48)...
April 17, 2018: Oncotarget
https://www.readbyqxmd.com/read/29754569/toward-personalized-medicine-in-bardet-biedl-syndrome
#16
Joanna Kenny, Elizabeth Forsythe, Philip Beales, Chiara Bacchelli
Personalized medicine is becoming routine in the treatment of common diseases such as cancer, but has lagged behind in the field of rare diseases. It is currently in the early stages for the treatment of Bardet-Biedl syndrome. Advances in the understanding of ciliary biology and diagnostic techniques have opened up the prospect of treating BBS in a patient-specific manner. Owing to their structure and function, cilia provide an attractive therapeutic target and genetic therapies are being explored in ciliopathy treatment...
September 2017: Personalized Medicine
https://www.readbyqxmd.com/read/29753316/differential-expression-profile-of-zfx-variants-discriminates-breast-cancer-subtypes
#17
Fatemeh Pourkeramati, Malek Hossein Asadi, Shahryar Shakeri, Alireza Farsinejad
Background: ZFX is a transcriptional regulator in embryonic stem cells that plays an important role in pluripotency and self-renewal. ZFX is widely expressed in pluripotent stem cells and is down-regulated during differentiation of embryonic stem cells. ZFX has five different variants that encode three different protein isoforms. While several reports have determined the overexpression of ZFX in a variety of somatic cancers, the expression of ZFX-spliced variants in cancer cells is not well-understood...
May 13, 2018: Iranian Biomedical Journal
https://www.readbyqxmd.com/read/29752441/ptbp3-contributes-to-the-metastasis-of-gastric-cancer-by-mediating-cav1-alternative-splicing
#18
Xin Liang, Weixia Chen, Haiyang Shi, Xiangyu Gu, Yueqi Li, Yingxue Qi, Ke Xu, Aiguang Zhao, Jianwen Liu
Polypyrimidine tract-binding protein 3 (PTBP3) is an essential RNA-binding protein with roles in RNA splicing, 3' end processing and translation. Although increasing evidence implicates PTBP3 in several cancers, its role in gastric cancer metastasis remains poorly explored. In this study, we found that PTBP3 was upregulated in the gastric cancer tissues of patients with lymph node metastasis. Patients with high PTBP3 expression levels had significantly shorter survival than those with low PTBP3 expression. Overexpression/knockdown of PTBP3 expression had no effect on proliferation, whereas it regulated migration and invasion in vitro...
May 11, 2018: Cell Death & Disease
https://www.readbyqxmd.com/read/29752352/functional-analysis-of-hsh155-sf3b1-interactions-with-the-u2-snrna-branch-site-duplex
#19
Tucker Joe Carrocci, Joshua Clark Paulson, Aaron Andrew Hoskins
SF3b1 is an essential component of the U2 snRNP implicated in branch site (BS) recognition and found to be frequently mutated in several human cancers. While recent structures of yeast and human SF3b1 have revealed its molecular architecture, the importance of specific RNA:protein contacts and conformational changes remain largely uncharacterized. Here, we performed mutational analysis of yeast SF3b1, guided by recent structures of the spliceosome. We find that conserved amino acids contacting the U2 snRNA backbone of the U2/BS duplex are nonessential, and that yeast can tolerate truncation of the HEAT repeats containing these amino acids...
May 11, 2018: RNA
https://www.readbyqxmd.com/read/29749045/evidence-for-galnt12-as-a-moderate-penetrance-gene-for-colorectal-cancer
#20
Daniel R Evans, Srividya Venkitachalam, Leslie Revoredo, Amanda T Dohey, Erica Clarke, Julia J Pennell, Amy E Powell, Erina Quinn, Lakshmeswari Ravi, Thomas A Gerken, Jane S Green, Michael O Woods, Kishore Guda
Characterizing moderate penetrance susceptibility genes is an emerging frontier in colorectal cancer (CRC) research. GALNT12 is a strong candidate CRC-susceptibility gene given previous linkage and association studies, and inactivating somatic and germline alleles in CRC patients. Previously, we found rare segregating germline GALNT12 variants in a clinic-based cohort (N = 118) with predisposition for CRC. Here, we screened a new population-based cohort of incident CRC cases (N = 479) for rare (MAF ≤1%) deleterious germline GALNT12 variants...
May 10, 2018: Human Mutation
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