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https://www.readbyqxmd.com/read/29390993/efficient-strategy-for-the-molecular-diagnosis-of-intractable-early-onset-epilepsy-using-targeted-gene-sequencing
#1
John Hoon Rim, Se Hee Kim, In Sik Hwang, Soon Sung Kwon, Jieun Kim, Hyun Woo Kim, Min Jung Cho, Ara Ko, Song Ee Youn, Jihun Kim, Young Mock Lee, Hee Jung Chung, Joon Soo Lee, Heung Dong Kim, Jong Rak Choi, Seung-Tae Lee, Hoon-Chul Kang
BACKGROUND: We intended to evaluate diagnostic utility of a targeted gene sequencing by using next generation sequencing (NGS) panel in patients with intractable early-onset epilepsy (EOE) and find the efficient analytical step for increasing the diagnosis rate. METHODS: We assessed 74 patients with EOE whose seizures started before 3 years of age using a customized NGS panel that included 172 genes. Single nucleotide variants (SNVs) and exonic and chromosomal copy number variations (CNVs) were intensively examined with our customized pipeline and crosschecked with commercial or pre-built software...
February 1, 2018: BMC Medical Genomics
https://www.readbyqxmd.com/read/29361163/genomic-and-expression-analyses-identify-a-disease-modifying-variant-for-fibrostenotic-crohn-s-disease
#2
Marijn C Visschedijk, Lieke M Spekhorst, Shih-Chin Cheng, Ellen S van Loo, B H Dianne Jansen, Tjasso Blokzijl, Hyunsuk Kil, Dirk J de Jong, Marieke Pierik, Jeroen P W J Maljaars, C Janneke van der Woude, Adriaan A van Bodegraven, Bas Oldenburg, Mark Löwenberg, Vincent B Nieuwenhuijs, Floris Imhann, Suzanne van Sommeren, Rudi Alberts, Ramnik J Xavier, Gerard Dijkstra, Klaas Nico Faber, C Marcelo Aldaz, Rinse K Weersma, Eleonora A M Festen
Background and Aims: Crohn's Disease (CD) is a chronic inflammatory disease with unpredictable behaviour. More than half of CD patients eventually develop complications such as stenosis, for which they then require endoscopic dilatation or surgery, as no anti-fibrotic drugs are currently available. We aim to identify disease-modifying genes associated with fibrostenotic CD. Methods: We performed a within-case analysis comparing "extreme phenotypes" using the Immunochip and replication of the top SNPs with Agena Bioscience in two independent case-control cohorts totalling 322 cases with fibrostenotis (recurrent after surgery) and 619 cases with purely inflammatory CD...
January 19, 2018: Journal of Crohn's & Colitis
https://www.readbyqxmd.com/read/29310447/phosphorylation-de-phosphorylation-in-specific-sites-of-tumor-suppressor-wwox-and-control-of-distinct-biological-events
#3
Shenq-Shyang Huang, Nan-Shan Chang
Abnormal differentiation and growth of hematopoietic stem cells cause the development of hematopoietic diseases and hematopoietic malignancies. However, the molecular events underlying leukemia development are not well understood. In our recent study, we have demonstrated that calcium ionophore and phorbol ester force the differentiation of T lymphoblastic leukemia. The event involves a newly identified IκBα/WWOX/ERK signaling, in which WWOX is Ser14 phosphorylated. Additional evidence also reveals that pS14-WWOX is involved in enhancing cancer progression and metastasis and facilitating neurodegeneration...
January 1, 2018: Experimental Biology and Medicine
https://www.readbyqxmd.com/read/29310145/immunohistochemical-wwox-expression-and-association-with-angiogenesis-p53-expression-cell-proliferation-and-clinicopathological-parameters-in-cervical-cancer
#4
Mariana Ataydes Leite Seabra, Eduardo Batista Cândido, Paula Vieira Teixeira Vidigal, Rivia Mara Lamaita, Angélica Nogueira Rodrigues, Agnaldo Lopes da Silva Filho
OBJECTIVE:  The current study evaluated the expression of WW domain-containing oxidoreductase (WWOX), its association with clinicopathological features and with p53, Ki-67 (cell proliferation) and CD31 (angiogenesis) expression in patients with invasive cervical squamous cell carcinoma (ICSCC). To the best of our knowledge, no other study has evaluated this association. METHODS:  Women with IB stage-ICSCC (n = 20) and women with uterine leiomyoma (n = 20) were prospectively evaluated...
January 8, 2018: Revista Brasileira de Ginecologia e Obstetrícia
https://www.readbyqxmd.com/read/29200707/wwox-rs11644322-polymorphism-gemcitabine-and-pancreatic-cancer
#5
Sora Yasri, Viroj Wiwanitkit, Beuy Joob
No abstract text is available yet for this article.
July 2017: Indian Journal of Medical and Paediatric Oncology
https://www.readbyqxmd.com/read/29164763/tmem207-hinders-the-tumour-suppressor-function-of-wwox-in-oral-squamous-cell-carcinoma
#6
Katsuaki Bunai, Hiroshi Okubo, Kimika Hano, Keisuke Inoue, Yusuke Kito, Chiemi Saigo, Toshiyuki Shibata, Tamotsu Takeuchi
The WW domain-containing oxidoreductase (WWOX) functions as a tumour suppressor in oral carcinogenesis. As aberrant TMEM207 expression may lead to tumour progression by hampering the tumour suppressor function of WWOX in various cancers, we explored the expression and pathobiological properties of TMEM207, focusing on the WWOX-mediated regulation of the HIF-1α pathway in oral squamous cell carcinoma (OSCC). TMEM207 immunoreactivity was detected in 40 of 90 OSCC samples but not in neighbouring non-tumorous epithelial tissues...
November 22, 2017: Journal of Cellular and Molecular Medicine
https://www.readbyqxmd.com/read/29152092/the-long-non-coding-rna-particle-is-associated-with-wwox-and-the-absence-of-fra16d-breakage-in-osteosarcoma-patients
#7
Valerie Bríd O'Leary, Doris Maugg, Jan Smida, Daniel Baumhoer, Michaela Nathrath, Saak Victor Ovsepian, Michael John Atkinson
Breakage of the fragile site FRA16D disrupts the WWOX (WW Domain Containing Oxidoreductase) tumor suppressor gene in osteosarcoma. However, the frequency of breakage is not sufficient to explain the rate of WWOX loss in pathogenesis. The involvement of non-coding RNA transcripts is proposed due to their accumulation at fragile sites, where they are advocated to influence specific chromosomal regions associated with malignancy. The long ncRNA PARTICLE (promoter of MAT2A antisense radiation-induced circulating long non-coding RNA) is transiently elevated in response to irradiation and influences epigenetic silencing modification within WWOX...
October 20, 2017: Oncotarget
https://www.readbyqxmd.com/read/29108237/the-circrna-interactome-innovative-hallmarks-of-the-intra-and-extracellular-radiation-response
#8
Valerie Bríd O'Leary, Jan Smida, Martina Matjanovski, Corinna Brockhaus, Klaudia Winkler, Simone Moertl, Saak Victor Ovsepian, Michael John Atkinson
Generated by Quaking (QKI), circular RNAs (circRNAs) are newly recognised non-coding RNA (ncRNA) members characterised by tissue specificity, increased stability and enrichment within exosomes. Studies have shown that ionizing radiation (IR) can influence ncRNA transcription. However, it is unknown whether circRNAs or indeed QKI are regulated by IR. Microarray circRNA profiling and next generation sequencing revealed that circRNA expression was altered by low and medium dose exposure sourced predominantly from genes influencing the p53 pathway...
October 3, 2017: Oncotarget
https://www.readbyqxmd.com/read/29100284/exosomes-containing-differential-expression-of-microrna-and-mrna-in-osteosarcoma-that-can-predict-response-to-chemotherapy
#9
Ji-Feng Xu, Ya-Ping Wang, Shui-Jun Zhang, Yu Chen, Hai-Feng Gu, Xiao-Fan Dou, Bing Xia, Qing Bi, Shun-Wu Fan
A major challenge in osteosarcoma (OS) is the selection of the most effective chemotherapeutic agents for individual patients, while the administration of ineffective chemotherapy increases mortality and decreases quality of life in patients. This emphasizes the need to evaluate every patient's probability of responding to each chemotherapeutic agent. We developed a profiling strategy for serum exosomal microRNAs and mRNAs in OS patients with differential chemotherapeutic responses. Twelve miRNAs were up regulated and 18 miRNAs were under regulated significantly in OS patient with poor chemotherapeutic response when compared with those in good chemotherapeutic response (p<0...
September 29, 2017: Oncotarget
https://www.readbyqxmd.com/read/29069730/inhibition-of-colorectal-cancer-genomic-copy-number-alterations-and-chromosomal-fragile-site-tumor-suppressor-fhit-and-wwox-deletions-by-dna-mismatch-repair
#10
Sohail Jahid, Jian Sun, Ozkan Gelincik, Pedro Blecua, Winfried Edelmann, Raju Kucherlapati, Kathy Zhou, Maria Jasin, Zeynep H Gümüş, Steven M Lipkin
Homologous recombination (HR) enables precise DNA repair after DNA double strand breaks (DSBs) using identical sequence templates, whereas homeologous recombination (HeR) uses only partially homologous sequences. Homeologous recombination introduces mutations through gene conversion and genomic deletions through single-strand annealing (SSA). DNA mismatch repair (MMR) inhibits HeR, but the roles of mammalian MMR MutL homologues (MLH1, PMS2 and MLH3) proteins in HeR suppression are poorly characterized. Here, we demonstrate that mouse embryonic fibroblasts (MEFs) carrying Mlh1, Pms2, and Mlh3 mutations have higher HeR rates, by using 7,863 uniquely mapping paired direct repeat sequences (DRs) in the mouse genome as endogenous gene conversion and SSA reporters...
September 22, 2017: Oncotarget
https://www.readbyqxmd.com/read/28977834/decreased-wwox-expression-promotes-angiogenesis-in-osteosarcoma
#11
Jia Wen, Zongchao Xu, Jiazhen Li, Yingqiang Zhang, Wenzhe Fan, Yu Wang, Mingjian Lu, Jiaping Li
WWOX (WW domain-containing oxidoreductase) is known to be an important tumor suppressor in cancer. In this study, we used samples from 201 osteosarcoma patients to investigate the effects of WWOX on angiogenesis and invasion. WWOX levels were negatively correlated with RUNX2 and VEGF levels, but were not correlated with OPN levels. Among the clinicopathological characteristics examined, WWOX was associated only with response to neoadjuvant chemotherapy, and its expression in osteosarcoma tissues was a predictor of disease-free survival...
September 22, 2017: Oncotarget
https://www.readbyqxmd.com/read/28943951/recurrent-alterations-of-the-ww-domain-containing-oxidoreductase-gene-spanning-the-common-fragile-site-fra16d-in-multiple-myeloma-and-monoclonal-gammopathy-of-undetermined-significance
#12
Hiroshi Handa, Yoshiko Sasaki, Hikaru Hattori, Lobna Alkebsi, Tetsuhiro Kasamatsu, Takayuki Saitoh, Takeki Mitsui, Akihiko Yokohama, Norifumi Tsukamoto, Morio Matsumoto, Hirokazu Murakami
The putative tumor suppressor gene WW domain containing oxidoreductase (WWOX) spans a common fragile site (CFS) on chromosome 16q23.3. CFSs are regions of profound genomic instability and sites for genomic deletions in cancer cells. Therefore, WWOX is structurally altered in diverse nonhematological cancer types. However, the function of WWOX in hematological tumor types, including multiple myeloma (MM) and monoclonal gammopathy of undetermined significance (MGUS) remains unclear. WWOX expression and methylation in patients with MM, MGUS, or noninvasive lymphoma (control) were analyzed using reverse transcription- and methylation specific-polymerase chain reaction analysis...
October 2017: Oncology Letters
https://www.readbyqxmd.com/read/28769061/particle-triplexes-cluster-in-the-tumor-suppressor-wwox-and-may-extend-throughout-the-human-genome
#13
Valerie Bríd O'Leary, Jan Smida, Fabian Andreas Buske, Laura Garcia Carrascosa, Omid Azimzadeh, Doris Maugg, Sarah Hain, Soile Tapio, Wolfgang Heidenreich, James Kerr, Matt Trau, Saak Victor Ovsepian, Michael John Atkinson
The long non-coding RNA PARTICLE (Gene PARTICL- 'Promoter of MAT2A-Antisense RadiaTion Induced Circulating LncRNA) partakes in triple helix (triplex) formation, is transiently elevated following low dose irradiation and regulates transcription of its neighbouring gene - Methionine adenosyltransferase 2A. It now emerges that PARTICLE triplex sites are predicted in many different genes across all human chromosomes. In silico analysis identified additional regions for PARTICLE triplexes at >1600 genomic locations...
August 2, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28763065/genome-wide-association-analysis-identifies-common-variants-influencing-infant-brain-volumes
#14
K Xia, J Zhang, M Ahn, S Jha, J J Crowley, J Szatkiewicz, T Li, F Zou, H Zhu, D Hibar, P Thompson, P F Sullivan, M Styner, J H Gilmore, R C Knickmeyer
Genome-wide association studies (GWAS) of adolescents and adults are transforming our understanding of how genetic variants impact brain structure and psychiatric risk, but cannot address the reality that psychiatric disorders are unfolding developmental processes with origins in fetal life. To investigate how genetic variation impacts prenatal brain development, we conducted a GWAS of global brain tissue volumes in 561 infants. An intronic single-nucleotide polymorphism (SNP) in IGFBP7 (rs114518130) achieved genome-wide significance for gray matter volume (P=4...
August 1, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/28749468/wwox-sensitises-ovarian-cancer-cells-to-paclitaxel-via-modulation-of-the-er-stress-response
#15
Szymon Janczar, Jaya Nautiyal, Yi Xiao, Edward Curry, Mingjun Sun, Elisa Zanini, Adam Jw Paige, Hani Gabra
There are clear gaps in our understanding of genes and pathways through which cancer cells facilitate survival strategies as they become chemoresistant. Paclitaxel is used in the treatment of many cancers, but development of drug resistance is common. Along with being an antimitotic agent paclitaxel also activates endoplasmic reticulum (ER) stress. Here, we examine the role of WWOX (WW domain containing oxidoreductase), a gene frequently lost in several cancers, in mediating paclitaxel response. We examine the ER stress-mediated apoptotic response to paclitaxel in WWOX-transfected epithelial ovarian cancer (EOC) cells and following siRNA knockdown of WWOX...
July 27, 2017: Cell Death & Disease
https://www.readbyqxmd.com/read/28742274/whole-exome-sequencing-identified-genetic-variations-in-chinese-hemangioblastoma-patients
#16
Dexuan Ma, Jingyun Yang, Ying Wang, Xiang Huang, Guhong Du, Liangfu Zhou
Hemangioblastomas (HBs) are uncommon tumors characterized by the presence of inactivating alterations in the von Hippel-Lindau (VHL) gene in inherited cases and by infrequent somatic mutation in sporadic entities. We performed whole exome sequencing on 11 HB patients to further elucidate the genetics of HBs. A total of 270 somatic variations in 219 genes, of which there were 86 mutations in 67 genes, were found in sporadic HBs, and 184 mutations were found in 154 genes in familial HBs. C: G>T: A and T: A>C: G mutations are relatively common in most HB patients...
October 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28732356/the-circrna-interactome-innovative-hallmarks-of-the-intra-and-extracellular-radiation-response
#17
Valerie Bríd O'Leary, Jan Smida, Martina Matjanovski, Corinna Brockhaus, Klaudia Winkler, Simone Moertl, Saak Victor Ovsepian, Michael John Atkinson
Generated by Quaking (QKI), circular RNAs (circRNAs) are newly recognised non-coding RNA (ncRNA) members characterised by tissue specificity, increased stability and enrichment within exosomes. Studies have shown that ionizing radiation (IR) can influence ncRNA transcription. However, it is unknown whether circRNAs or indeed QKI are regulated by IR. Microarray circRNA profiling and next generation sequencing revealed that circRNA expression was altered by low and medium dose exposure sourced predominantly from genes influencing the p53 pathway...
July 13, 2017: Oncotarget
https://www.readbyqxmd.com/read/28724435/ww-domain-binding-protein-2-an-adaptor-protein-closely-linked-to-the-development-of-breast-cancer
#18
REVIEW
Shuai Chen, Han Wang, Yu-Fan Huang, Ming-Li Li, Jiang-Hong Cheng, Peng Hu, Chuan-Hui Lu, Ya Zhang, Na Liu, Chi-Meng Tzeng, Zhi-Ming Zhang
The WW domain is composed of 38 to 40 semi-conserved amino acids shared with structural, regulatory, and signaling proteins. WW domain-binding protein 2 (WBP2), as a binding partner of WW domain protein, interacts with several WW-domain-containing proteins, such as Yes kinase-associated protein (Yap), paired box gene 8 (Pax8), WW-domain-containing transcription regulator protein 1 (TAZ), and WW-domain-containing oxidoreductase (WWOX) through its PPxY motifs within C-terminal region, and further triggers the downstream signaling pathway in vitro and in vivo...
July 19, 2017: Molecular Cancer
https://www.readbyqxmd.com/read/28721938/practical-clues-for-diagnosing-wwox-encephalopathy
#19
Oana Tarta-Arsene, Diana Barca, Dana Craiu, Catrinel Iliescu
The WW domain-containing oxidoreductase gene is implicated in autosomal recessive disorders of the central nervous system, expressed either as spinocerebellar ataxia or as a severe form with early-infantile epileptic encephalopathy. Here, we describe the electroclinical evolution of these disorders, adding new diagnostic clues based on a case study. The patient, a boy with early-onset epilepsy, presented with profound global developmental delay, persistent hypsarrhythmia, and epileptic spasms, associated with progressive cerebral atrophy without microcephaly...
September 1, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28708106/evodiamine-exerts-an-anti-hepatocellular-carcinoma-activity-through-a-wwox-dependent-pathway
#20
Che-Yuan Hu, Hung-Tsung Wu, Yu-Chu Su, Ching-Han Lin, Chih-Jen Chang, Chao-Liang Wu
Evodiamine is one of the main components isolated from Evodia rutaecarpa, and it has been reported to exert inhibitory effects on cancers by anti-proliferative and apoptosis-inducing activities. Although the anti-cancer activity of evodiamine has been identified, the precise mechanisms of this action remain obscure. While previous studies indicated that evodiamine exerts anti-tumor effects through inhibiting β-catenin activity, and WW domain-containing oxidoreductase (WWOX) regulates β-catenin accumulation in cytoplasm, the effects of evodiamine on the expression of WWOX are still unknown...
July 14, 2017: Molecules: a Journal of Synthetic Chemistry and Natural Product Chemistry
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