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https://www.readbyqxmd.com/read/27902597/whole-exome-sequencing-of-independent-lung-adenocarcinoma-lung-squamous-cell-carcinoma-and-malignant-peritoneal-mesothelioma-a-case-report
#1
Irene Vanni, Simona Coco, Silvia Bonfiglio, Davide Cittaro, Carlo Genova, Federica Biello, Marco Mora, Valeria Rossella, Maria Giovanna Dal Bello, Anna Truini, Barbara Banelli, Dejan Lazarevic, Angela Alama, Erika Rijavec, Giulia Barletta, Francesco Grossi
The presence of multiple primary tumors (MPT) in a single patient has been identified with an increasing frequency. A critical issue is to establish if the second tumor represents an independent primary cancer or a metastasis. Therefore, the assessment of MPT clonal origin might help understand the disease behavior and improve the management/prognosis of the patient.Herein, we report a 73-year-old male smoker who developed 2 primary lung cancers (adenocarcinoma and squamous cell carcinoma) and a malignant peritoneal mesothelioma (PM)...
November 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27898418/rapid-molecular-genetic-diagnosis-with-next-generation-sequencing-in-46-xy-disorders-of-sex-development-cases-efficiency-and-cost-assessment
#2
Samim Özen, Hüseyin Onay, Tahir Atik, Aslı Ece Solmaz, Ferda Özkınay, Damla Gökşen, Şükran Darcan
BACKGROUND/AIM: The aim of this study was to use targeted next-generation sequencing (TNGS) including all known genes associated with 46,XY disorders of sex development (DSD) for a fast molecular genetic diagnosis. METHODS: Twenty pediatric patients were recruited, and 56 genes related to 46,XY DSD were sequenced using TNGS. The time elapsed between initial appointment and final diagnosis as well as the mean expenditure was determined. RESULTS: A total of 9 (45%) mutations in 4 different genes were identified...
November 30, 2016: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/27896368/targeting-of-the-wt191-138-fragment-to-human-dendritic-cells-improves-leukemia-specific-t-cell-responses-providing-an-alternative-approach-to-wt1-based-vaccination
#3
Nergui Dagvadorj, Anne Deuretzbacher, Daniela Weisenberger, Elke Baumeister, Johannes Trebing, Isabell Lang, Carolin Köchel, Markus Kapp, Kerstin Kapp, Andreas Beilhack, Thomas Hünig, Hermann Einsele, Harald Wajant, Götz Ulrich Grigoleit
Due to its immunogenicity and overexpression concomitant with leukemia progression, Wilms tumor protein 1 (WT1) is of particular interest for immunotherapy of AML relapse after allogeneic hematopoietic stem cell transplantation (allo-HSCT). So far, WT1-specific T-cell responses have mainly been induced by vaccination with peptides presented by certain HLA alleles. However, this approach is still not widely applicable in clinical practice due to common limitations of HLA restriction. Dendritic cell (DC) vaccines electroporated with mRNA encoding full-length protein have also been tested for generating WT1-derived peptides for presentation to T-cells...
November 28, 2016: Cancer Immunology, Immunotherapy: CII
https://www.readbyqxmd.com/read/27893200/clinical-impact-of-overexpression-of-foxp3-and-wt1-on-disease-outcome-in-egyptian-acute-myeloid-leukemia-patients
#4
M Assem Magda, Osman Ahmed, Z Kandeel Eman, A A Elshimy Reham, R Nassar Hanan, E Ali Radwa
Background: In the last decade, it has become clear that change of gene expression may alter the hematopoietic cell quiescent state and consequently play a major role in leukemogenesis. WT1 is known to be a player in acute myeloid leukemia (AML) and FOXP3 has a crucial role in regulating the immune response. Objectives: To evaluate the impact of overexpression of WT1and FOXP3 genes on clinical course in adult and pediatric AML patients in Egypt. Patients and methods: Bone marrow and peripheral blood samples were obtained from 97 de novo non M3 AML patients (63 adult and 34 pediatric)...
January 10, 2016: Asian Pacific Journal of Cancer Prevention: APJCP
https://www.readbyqxmd.com/read/27889611/anti-apoptotic-quinolinate-phosphoribosyltransferase-qprt-is-a-target-gene-of-wilms-tumor-gene-1-wt1-protein-in-leukemic-cells
#5
Tove Ullmark, Giorgia Montano, Linnea Järvstråt, Helena Jernmark Nilsson, Erik Håkansson, Kristina Drott, Björn Nilsson, Karina Vidovic, Urban Gullberg
Wilms' tumor gene 1 (WT1) is a zinc finger transcription factor that has been implicated as an oncogene in leukemia and several other malignancies. When investigating possible gene expression network partners of WT1 in a large acute myeloid leukemia (AML) patient cohort, one of the genes with the highest correlation to WT1 was quinolinate phosphoribosyltransferase (QPRT), a key enzyme in the de novo nicotinamide adenine dinucleotide (NAD+) synthesis pathway. To investigate the possible relationship between WT1 and QPRT, we overexpressed WT1 in hematopoietic progenitor cells and cell lines, resulting in an increase of QPRT expression...
November 23, 2016: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/27888191/wt1-directs-the-lineage-specification-of-sertoli-and-granulosa-cells-by-repressing-sf1-expression
#6
Min Chen, Lianjun Zhang, Xiuhong Cui, Xiwen Lin, Yaqiong Li, Yaqing Wang, Yanbo Wang, Yan Qin, Dahua Chen, Chunsheng Han, Bin Zhou, Vicki Huff, Fei Gao
Supporting cells (Sertoli and granulosa) and steroidogenic cells (Leydig and theca-interstitium) are two major somatic cell types in mammalian gonads. However, the mechanisms that control their differentiation during gonad development remain elusive. In this study, we found deletion of Wt1 in ovary after sex determination caused ectopic development of steroidogenic cells at embryonic stage. Furthermore, the differentiation of both Sertoli and granulosa cells was blocked when Wt1 was deleted before sex determination and most genital ridge somatic cells differentiated into steroidogenic cells in both male and female gonads...
November 25, 2016: Development
https://www.readbyqxmd.com/read/27885584/wt1-and-nphs2-gene-mutation-analysis-and-clinical-management-of-steroid-resistant-nephrotic-syndrome
#7
Aravind Selvin Kumar Ramanathan, Murali Vijayan, Srilakshmi Rajagopal, Padmaraj Rajendiran, Prabha Senguttuvan
Nephrotic syndrome (NS) is a kidney disease predominantly present in children with idiopathic condition; final stage of the disease progresses into end-stage renal disease. Generally, NS is treated using standard steroid therapy, however; most of the children are steroid sensitive and about 15-20% are non-responders (SRNS). Non-responsiveness of these children would be a risk with the possibility of mutational changes in podocyte genes (NPHS1, NPHS2, WT1, PLCE1). The mutation in podocyte genes is associated with SRNS...
November 25, 2016: Molecular and Cellular Biochemistry
https://www.readbyqxmd.com/read/27874290/impact-of-clinical-factors-on-outcome-of-leukemia-patients-with-tls-erg-fusion-gene
#8
Jing Pan, Yang Zhang, Yan-Li Zhao, Jun-Fang Yang, Jian-Ping Zhang, Hong-Xing Liu, Tong Wu, Chun-Rong Tong
We report the clinical features and outcome of 22 TLS-ERG(+ )leukemia patients (20 AML and 2 B-ALL). TLS-ERG was tightly associated with extramedullary disease (EMD), complex chromosome abnormalities, and high risk gene mutations including IKZF1, WT1, TET2, NOTCH2, and PHF6. The 6-month leukemia free survival (LFS) with and without EMD was 75% and 83.3% (p = .017). 11/20 AML patients received allogeneic hematopoietic stem cell transplantation (HCT). The 1-year overall survival (OS) in non-HCT and HCT group was 62...
November 22, 2016: Leukemia & Lymphoma
https://www.readbyqxmd.com/read/27872100/regeneration-of-cd8%C3%AE-%C3%AE-t-cells-from-t-cell-derived-ipsc-imparts-potent-tumor-antigen-specific-cytotoxicity
#9
Takuya Maeda, Seiji Nagano, Hiroshi Ichise, Keisuke Kataoka, Daisuke Yamada, Seishi Ogawa, Haruhiko Koseki, Toshio Kitawaki, Norimitsu Kadowaki, Akifumi Takaori-Kondo, Kyoko Masuda, Hiroshi Kawamoto
Although adoptive transfer of cytotoxic T lymphocytes (CTL) offer a promising cancer therapeutic direction, the generation of antigen-specific CTL from patients has faced difficulty in efficient expansion in ex vivo culture. To resolve this issue, several groups have proposed that induced pluripotent stem cell technology be applied for the expansion of antigen-specific CTL, which retain expression of the same T-cell receptor as original CTL. However, in these previous studies, the regenerated CTL are mostly of the CD8αα(+) innate type and have less antigen-specific cytotoxic activity than primary CTL...
November 21, 2016: Cancer Research
https://www.readbyqxmd.com/read/27871071/wt1-expression-in-patients-with-myelodysplastic-syndromes-a-variety-of-possibilities-in-future-clinical-practice
#10
Kiyoyuki Ogata
No abstract text is available yet for this article.
November 22, 2016: Acta Haematologica
https://www.readbyqxmd.com/read/27866185/wilms-tumor-1-wt1-mrna-expression-level-at-diagnosis-is-a-significant-prognostic-marker-in-elderly-patients-with-myelodysplastic-syndrome
#11
Joji Nagasaki, Yasutaka Aoyama, Masayuki Hino, Kentaro Ido, Hiroyoshi Ichihara, Masahiro Manabe, Tadanobu Ohta, Atsuko Mugitani
BACKGROUND/AIMS: A high expression of Wilms tumor 1 (WT1) mRNA occurs in most cases of acute leukemia and myelodysplastic syndrome (MDS). Although there are many reports suggesting that acute myeloid leukemia patients with high expression levels of WT1 mRNA have a relatively poor long-term survival, there are few reports addressing the relationship between WT1 levels and prognosis in MDS. METHODS: We retrospectively analyzed 42 elderly patients with MDS whose WT1 levels at diagnosis were available, and we assessed the relationships between WT1 levels in peripheral blood and preexisting prognostic factors such as World Health Organization prognostic scores and Revised International Prognostic Scoring System risk categories, bone marrow blast percentages, and chromosomal abnormalities linked to a poor prognosis...
November 19, 2016: Acta Haematologica
https://www.readbyqxmd.com/read/27863505/a-genomic-case-study-of-desmoplastic-small-round-cell-tumor-comprehensive-analysis-reveals-insights-into-potential-therapeutic-targets-and-development-of-a-monitoring-tool-for-a-rare-and-aggressive-disease
#12
Elisa Napolitano Ferreira, Bruna Durães Figueiredo Barros, Jorge Estefano de Souza, Renan Valieris Almeida, Giovana Tardin Torrezan, Sheila Garcia, Ana Cristina Victorino Krepischi, Celso Abdon Lopes de Mello, Isabela Werneck da Cunha, Clóvis Antonio Lopes Pinto, Fernando Augusto Soares, Emmanuel Dias-Neto, Ademar Lopes, Sandro José de Souza, Dirce Maria Carraro
BACKGROUND: Genome-wide profiling of rare tumors is crucial for improvement of diagnosis, treatment, and, consequently, achieving better outcomes. Desmoplastic small round cell tumor (DSRCT) is a rare type of sarcoma arising from mesenchymal cells of abdominal peritoneum that usually develops in male adolescents and young adults. A specific translocation, t(11;22)(p13;q12), resulting in EWS and WT1 gene fusion is the only recurrent molecular hallmark and no other genetic factor has been associated to this aggressive tumor...
November 18, 2016: Human Genomics
https://www.readbyqxmd.com/read/27852932/epididymis-like-tubules-in-adult-renal-hypodysplasia-immunohistochemical-features-indicate-a-mesonephric-origin
#13
Madhavi A Naik, Sanjay A Pai
We report the presence of epididymis-like tubules in unilateral renal hypodysplasia in 3 adult men. Microscopy showed dilated tubules lined by ciliated columnar epithelium and smaller basal cells, morphologically resembling epididymal tubules. Small tubules lined by cuboidal epithelium were also present in all cases, with glomeruli in 2 cases. The epididymis-like tubules expressed CD10, CK7, PAX8, and AR in the luminal epithelium, while the basal cells were positive for p63, CK7, and focally for CD10. The smooth muscle bundles around the epididymis-like tubules were focally AR and WT1 (cytoplasmic) positive...
November 16, 2016: International Journal of Surgical Pathology
https://www.readbyqxmd.com/read/27852136/generation-of-high-avidity-wt1-reactive-cd8-cytotoxic-t-cell-clones-with-anti-leukemic-activity-by-streptamer-technology
#14
Antje Tunger, Rebekka Wehner, Malte von Bonin, Denise Kühn, Falk Heidenreich, Sarah Matko, Magdalena Nauerth, Elke Rücker-Braun, Sevina Dietz, Cornelia S Link, Anne Eugster, Marcus Odendahl, Dirk H Busch, Torsten Tonn, Ezio Bonifacio, Lothar Germeroth, Johannes Schetelig, Michael P Bachmann, Martin Bornhäuser, Marc Schmitz
No abstract text is available yet for this article.
November 16, 2016: Leukemia & Lymphoma
https://www.readbyqxmd.com/read/27835605/meta-analysis-of-dna-methylation-biomarkers-in-hepatocellular-carcinoma
#15
Cheng Zhang, Jinyun Li, Tao Huang, Shiwei Duan, Dongjun Dai, Danjie Jiang, Xinbing Sui, Da Li, Yidan Chen, Fei Ding, Changxin Huang, Gongying Chen, Kaifeng Wang
DNA methylation is an epigenetic mechanism in the pathogenesis of hepatocellular carcinoma (HCC). Here, we conducted a systematic meta-analysis to evaluate the contribution of DNA methylation to the risk of HCC. A total of 2109 publications were initially retrieved from PubMed, Web of Science, Cochrane Library, Embase, CNKI and Wanfang literature database. After a four-step filtration, we harvested 144 case-control articles in the meta-analysis. Our results revealed that 24 genes (carcinoma tissues vs adjacent tissues), 17 genes (carcinoma tissues vs normal tissues) and six genes (carcinoma serums vs normal serums) were significantly hypermethylated in HCC...
November 8, 2016: Oncotarget
https://www.readbyqxmd.com/read/27821287/combination-of-rna-and-exome-sequencing-increasing-specificity-for-identification-of-somatic-point-mutations-and-indels-in-acute-leukaemia
#16
Marcus C Hansen, Laura L Herborg, Maria Hansen, Anne S Roug, Peter Hokland
Handling of large data sets from whole exome sequencing is a challenge, not the least because of the high risk of detecting false positive variants. Furthermore, there is still no consensus regarding what stage filtering of variants is performed in the bioinformatics pipeline to produce consistent result sets, the extent of filtering and how this is most optimal performed. We hypothesized that combination of coding transcriptome and exomes enables precise identification of both somatic single nucleotide and indel variants early in the bioinformatics process, superseding the need for extensive annotation and validation from external databases...
December 2016: Leukemia Research
https://www.readbyqxmd.com/read/27821145/pathologically-decreased-expression-of-mir-193a-contributes-to-metastasis-by-targeting-wt1-e-cadherin-axis-in-non-small-cell-lung-cancers
#17
Junjie Chen, Shenmeng Gao, Chunjing Wang, Zhonggai Wang, Huxiang Zhang, Kate Huang, Bin Zhou, Haiying Li, Zhijie Yu, Jianbo Wu, Chengshui Chen
BACKGROUND: The metastatic cascade is a complex and multistep process with many potential barriers. Recently, miR-193a has been reported to be a suppressive miRNA in multiple types of cancers, but its underlying anti-oncogenic activity in non-small cell lung cancers (NSCLC) is not fully elucidated. METHODS: The expressions of miR-193a (miR-193a-5p) in human lung cancer tissues and cell lines were detected by real-time PCR. Dual-luciferase reporter assay was used to identify the direct target of miR-193a...
November 7, 2016: Journal of Experimental & Clinical Cancer Research: CR
https://www.readbyqxmd.com/read/27811504/clinical-outcome-and-biological-predictors-of-relapse-after-nephrectomy-only-for-very-low-risk-wilms-tumor-a-report-from-children-s-oncology-group-aren0532
#18
Conrad V Fernandez, Elizabeth J Perlman, Elizabeth A Mullen, Yueh-Yun Chi, Thomas E Hamilton, Kenneth W Gow, Fernando A Ferrer, Douglas C Barnhart, Peter F Ehrlich, Geetika Khanna, John A Kalapurakal, Tina Bocking, Vicky Huff, Jing Tian, James I Geller, Paul E Grundy, James R Anderson, Jeffrey S Dome, Robert C Shamberger
OBJECTIVE: To determine if observation alone after nephrectomy in very low-risk Wilms tumor (defined as stage I favorable histology Wilms tumors with nephrectomy weight <550g and age at diagnosis <2 years) results in satisfactory event-free survival and overall survival, and to correlate relapse with biomarkers. PATIENTS AND METHODS: The AREN0532 study enrolled patients with very low-risk Wilms tumor confirmed by central review of pathology, diagnostic imaging, and surgical reports...
March 16, 2016: Annals of Surgery
https://www.readbyqxmd.com/read/27803039/an-igf1r-dependent-pathway-drives-epicardial-adipose-tissue-formation-after-myocardial-injury
#19
Lior Zangi, Marcela S Oliveira, Lillian Y Ye, Qing Ma, Nishat Sultana, Yoav Hadas, Elena Chepurko, Daniela Später, Bin Zhou, Wei Leong Chew, Wataru Ebina, Maryline Abrial, Qing-Dong Wang, William T Pu, Kenneth R Chien
BACKGROUND: -Epicardial adipose tissue (EAT) volume and coronary artery disease are strongly associated, even after accounting for overall body mass. Despite its pathophysiological significance, the origin and paracrine signaling pathways that regulate EAT's formation and expansion are unclear. METHODS: -We used a novel modified mRNA (modRNA)-based screening approach to probe the effect of individual paracrine factors on epicardial progenitors in the adult heart...
November 1, 2016: Circulation
https://www.readbyqxmd.com/read/27801325/-association-of-wt1-rs16754-polymorphism-with-clinical-features-and-prognosis-in-patients-with-acute-myeloid-leukemia
#20
J Xu, L Li, J Li, Y Chen, H W Wang
Objective: To explore the relationship between WT1 rs16754 polymorphism and clinical features and prognosis in patients with acute myeloid leukemia(AML). Methods: Bone marrow samples of 115 newly diagnosed AML patients and peripheral blood samples of 177 healthy controls were collected from the Second Hospital of Shanxi Medical University from January 2010 to December 2013. The genotype of rs16754 was screened by high- resolution melting(HRM)and validated by direct sequencing. The association between the single nucleotide polymorphism(SNP)and the risk, clinical features, remission and survival state of AML patients was analyzed retrospectively...
October 14, 2016: Zhonghua Xue Ye Xue za Zhi, Zhonghua Xueyexue Zazhi
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