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https://www.readbyqxmd.com/read/27877193/a-combined-linkage-and-exome-sequencing-analysis-for-electrocardiogram-parameters-in-the-erasmus-rucphen-family-study
#1
Claudia T Silva, Irina V Zorkoltseva, Najaf Amin, Ayşe Demirkan, Elisabeth M van Leeuwen, Jan A Kors, Marten van den Berg, Bruno H Stricker, André G Uitterlinden, Anatoly V Kirichenko, Jacqueline C M Witteman, Rob Willemsen, Ben A Oostra, Tatiana I Axenovich, Cornelia M van Duijn, Aaron Isaacs
Electrocardiogram (ECG) measurements play a key role in the diagnosis and prediction of cardiac arrhythmias and sudden cardiac death. ECG parameters, such as the PR, QRS, and QT intervals, are known to be heritable and genome-wide association studies of these phenotypes have been successful in identifying common variants; however, a large proportion of the genetic variability of these traits remains to be elucidated. The aim of this study was to discover loci potentially harboring rare variants utilizing variance component linkage analysis in 1547 individuals from a large family-based study, the Erasmus Rucphen Family Study (ERF)...
2016: Frontiers in Genetics
https://www.readbyqxmd.com/read/27863435/myb-expression-is-critical-for-myeloid-leukemia-development-induced-by-setbp1-activation
#2
Nhu Nguyen, Bandana A Vishwakarma, Kevin Oakley, Yufen Han, Bartlomiej Przychodzen, Jaroslaw P Maciejewski, Yang Du
SETBP1 missense mutations have been frequently identified in multiple myeloid neoplasms; however, their oncogenic potential remains unclear. Here we show that expression of Setbp1 mutants carrying two such mutations in mouse bone marrow progenitors efficiently induced development of acute myeloid leukemias (AMLs) in irradiated recipient mice with significantly shorter latencies and greater penetrance than expression of wild-type Setbp1, suggesting that these mutations are highly oncogenic. The increased oncogenicity of Setbp1 missense mutants could be due in part to their capability to drive significantly higher target gene transcription...
November 16, 2016: Oncotarget
https://www.readbyqxmd.com/read/27766616/genomics-of-primary-chemoresistance-and-remission-induction-failure-in-paediatric-and-adult-acute-myeloid-leukaemia
#3
Fiona C Brown, Paolo Cifani, Esther Drill, Jie He, Eric Still, Shan Zhong, Sohail Balasubramanian, Dean Pavlick, Bahar Yilmazel, Kristina M Knapp, Todd A Alonzo, Soheil Meshinchi, Richard M Stone, Steven M Kornblau, Guido Marcucci, Alan S Gamis, John C Byrd, Mithat Gonen, Ross L Levine, Alex Kentsis
Cure rates of children and adults with acute myeloid leukaemia (AML) remain unsatisfactory partly due to chemotherapy resistance. We investigated the genetic basis of AML in 107 primary cases by sequencing 670 genes mutated in haematological malignancies. SETBP1, ASXL1 and RELN mutations were significantly associated with primary chemoresistance. We identified genomic alterations not previously described in AML, together with distinct genes that were significantly overexpressed in therapy-resistant AML. Defined gene mutations were sufficient to explain primary induction failure in only a minority of cases...
October 21, 2016: British Journal of Haematology
https://www.readbyqxmd.com/read/27646892/-characterization-of-mutational-pattern-in-patients-with-ph-negative-myeloproliferative-neoplasms
#4
F Xing, Y N Lin, Q Sun, L Qin, Y J Jia, D L Zhang, K Ru
Objective: To characterize the molecular profile in patients with Ph negative myeloproliferative neoplasms (MPN) by exploring 49 gene mutations. Methods: Targeted gene sequencing were performed to analyze 49 MPN-associated genes in 51 patients with Ph negative MPN, of which CARL (exon 9), NPM1 (exon 12) and CEBPA (TAD, BZIP domains) were investigated by using Sanger sequencing simultaneously, while FLT3-ITD was assessed by PCR method. Results: Mutations were detected in 73.5% (36/49) of genes, and the mutational rates of JAK2-V617F, CALR (exon 9) and MPL were 60...
September 8, 2016: Zhonghua Bing Li Xue za Zhi Chinese Journal of Pathology
https://www.readbyqxmd.com/read/27611742/novel-bcr-abl1-fusion-and-leukemic-mutations-of-setbp1-pax5-and-tp53-detected-by-next-generation-sequencing-in-chronic-myeloid-leukemia
#5
Shuang Fu, Yanping Hu, Yu Fu, Fang Chen, Xuan Liu, Minyu Zhang, Xiaohui Wang, Shichun Tu, Jihong Zhang
Patients with BCR-ABL1 fusion genes are potential candidates for targeted therapy with tyrosine kinase inhibitor (TKI) imatinib. However, novel BCR-ABL1 fusion variants can be undetected by qRT-PCR-based routine molecular screening, affecting immediate patient management and proper treatment selection. In this study, we describe a case of chronic myeloid leukemia (CML) harboring a novel BCR-ABL1 variant gene. Although Fluorescent In situ Hybridization (FISH) analysis suggested Philadelphia (Ph) translocation, qRT-PCR screening failed to detect the presence of a functional fusion transcript, which is critical for selecting targeted therapy against BCR-ABL1 fusion with aberrant kinase activity...
August 12, 2016: Cancer Biology & Therapy
https://www.readbyqxmd.com/read/27587251/-chronic-neutrophilic-leukemia-complicated-with-multiple-myeloma-two-cases-report-and-literature-review
#6
B Jiang, J Y Qi, Q H Li, Y Xu, M Y Sun, W W Zheng, F Chen, L G Qiu
OBJECTIVE: To explored the diagnosis and treatment of chronic neutrophilic leukemia (CNL) complicated with multiple myeloma (MM). METHODS: The clinical features and molecular biological characteristics of 2 patients with CNL complicated with MM were summarized, and the diagnosis and treatment of the patients were retrospectively reviewed. RESULTS: The diagnosis of CNL complicated with MM was established in 2 cases. Case 1 had CSF3R mutation (P733T), but CSF3R-exon 14 mutation and SETBP1 mutation were all negative...
August 14, 2016: Zhonghua Xue Ye Xue za Zhi, Zhonghua Xueyexue Zazhi
https://www.readbyqxmd.com/read/27577874/fine-mapping-novel-loci-identification-and-snp-association-transferability-in-a-genome-wide-association-study-of-qrs-duration-in-african-americans
#7
Daniel S Evans, Christy L Avery, Mike A Nalls, Guo Li, John Barnard, Erin N Smith, Toshiko Tanaka, Anne M Butler, Sarah G Buxbaum, Alvaro Alonso, Dan E Arking, Gerald S Berenson, Joshua C Bis, Steven Buyske, Cara L Carty, Wei Chen, Mina K Chung, Steven R Cummings, Rajat Deo, Charles B Eaton, Ervin R Fox, Susan R Heckbert, Gerardo Heiss, Lucia A Hindorff, Wen-Chi Hsueh, Aaron Isaacs, Yalda Jamshidi, Kathleen F Kerr, Felix Liu, Yongmei Liu, Kurt K Lohman, Jared W Magnani, Joseph F Maher, Reena Mehra, Yan A Meng, Solomon K Musani, Christopher Newton-Cheh, Kari E North, Bruce M Psaty, Susan Redline, Jerome I Rotter, Renate B Schnabel, Nicholas J Schork, Ralph V Shohet, Andrew B Singleton, Jonathan D Smith, Elsayed Z Soliman, Sathanur R Srinivasan, Herman A Taylor, David R Van Wagoner, James G Wilson, Taylor Young, Zhu-Ming Zhang, Alan B Zonderman, Michele K Evans, Luigi Ferrucci, Sarah S Murray, Gregory J Tranah, Eric A Whitsel, Alex P Reiner, Nona Sotoodehnia
The electrocardiographic QRS duration, a measure of ventricular depolarization and conduction, is associated with cardiovascular mortality. While genome-wide association studies (GWAS) have identified single nucleotide polymorphisms (SNPs) associated with QRS duration at 22 loci among those of European descent, the genetic architecture of QRS duration in non-European populations is largely unknown. We therefore performed a GWAS meta-analysis of QRS duration in 13,031 African Americans from ten cohorts and a transethnic GWAS meta-analysis with additional results from populations of European descent...
August 29, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/27389056/exome-sequencing-identifies-highly-recurrent-somatic-gata2-and-cebpa-mutations-in-acute-erythroid-leukemia
#8
N Ping, A Sun, Y Song, Q Wang, J Yin, W Cheng, Y Xu, L Wen, H Yao, L Ma, H Qiu, C Ruan, D Wu, S Chen
Acute erythroid leukemia (AEL), characterized by a predominant erythroid proliferation, is a subtype of acute myelogenous leukemia. The genetic basis of AEL remains poorly defined. Through whole-exome sequencing, we identified high frequencies of mutations in CEBPA (32.7%), GATA2 (22.4%), NPM1 (15.5%), SETBP1 (12.1%) and U2AF1 (12.1%). Structure prediction analysis revealed that most of the GATA2 mutations were located at the DNA-binding N-terminal zinc-finger near the DNA-binding interface, suggesting that mutations could result in at least partial inactivation of GATA2 protein...
July 8, 2016: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
https://www.readbyqxmd.com/read/27385790/integrating-clinical-features-and-genetic-lesions-in-the-risk-assessment-of-patients-with-chronic-myelomonocytic-leukemia
#9
Chiara Elena, Anna Gallì, Esperanza Such, Manja Meggendorfer, Ulrich Germing, Ettore Rizzo, Jose Cervera, Elisabetta Molteni, Annette Fasan, Esther Schuler, Ilaria Ambaglio, Maria Lopez-Pavia, Silvia Zibellini, Andrea Kuendgen, Erica Travaglino, Reyes Sancho-Tello, Silvia Catricalà, Ana I Vicente, Torsten Haferlach, Claudia Haferlach, Guillermo F Sanz, Luca Malcovati, Mario Cazzola
Chronic myelomonocytic leukemia (CMML) is a myelodysplastic/myeloproliferative neoplasm with variable clinical course. To predict the clinical outcome, we previously developed a CMML-specific prognostic scoring system (CPSS) based on clinical parameters and cytogenetics. In this work, we tested the hypothesis that accounting for gene mutations would further improve risk stratification of CMML patients. We therefore sequenced 38 genes to explore the role of somatic mutations in disease phenotype and clinical outcome...
September 8, 2016: Blood
https://www.readbyqxmd.com/read/27174585/targeted-next-generation-sequencing-identifies-a-subset-of-idiopathic-hypereosinophilic-syndrome-with-features-similar-to-chronic-eosinophilic-leukemia-not-otherwise-specified
#10
Sa A Wang, Wayne Tam, Albert G Tsai, Daniel A Arber, Robert P Hasserjian, Julia T Geyer, Tracy I George, David R Czuchlewski, Kathryn Foucar, Heesun J Rogers, Eric D Hsi, B Bryan Rea, Adam Bagg, Paola Dal Cin, Chong Zhao, Todd W Kelley, Srdan Verstovsek, Carlos Bueso-Ramos, Attilio Orazi
The distinction between chronic eosinophilic leukemia, not otherwise specified and idiopathic hypereosinophilic syndrome largely relies on clonality assessment. Prior to the advent of next-generation sequencing, clonality was usually determined by cytogenetic analysis. We applied targeted next-generation sequencing panels designed for myeloid neoplasms to bone marrow specimens from a cohort of idiopathic hypereosinophilic syndrome patients (n=51), and assessed the significance of mutations in conjunction with clinicopathological features...
August 2016: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/27016271/genome-wide-association-and-exome-sequencing-study-of-language-disorder-in-an-isolated-population
#11
Sergey A Kornilov, Natalia Rakhlin, Roman Koposov, Maria Lee, Carolyn Yrigollen, Ahmet Okay Caglayan, James S Magnuson, Shrikant Mane, Joseph T Chang, Elena L Grigorenko
BACKGROUND AND OBJECTIVE: Developmental language disorder (DLD) is a highly prevalent neurodevelopmental disorder associated with negative outcomes in different domains; the etiology of DLD is unknown. To investigate the genetic underpinnings of DLD, we performed genome-wide association and whole exome sequencing studies in a geographically isolated population with a substantially elevated prevalence of the disorder (ie, the AZ sample). METHODS: DNA samples were collected from 359 individuals for the genome-wide association study and from 12 severely affected individuals for whole exome sequencing...
April 2016: Pediatrics
https://www.readbyqxmd.com/read/26980750/mutations-of-setbp1-and-jak3-in-juvenile-myelomonocytic-leukemia-a-report-from-the-italian-aieop-study-group
#12
Silvia Bresolin, Paola De Filippi, Francesca Vendemini, Mirko D'Alia, Marco Zecca, Lueder H Meyer, Cesare Danesino, Franco Locatelli, Riccardo Masetti, Giuseppe Basso, Geertruy Te Kronnie
Juvenile myelomonocytic leukemia (JMML) is a rare aggressive disease of early childhood. Driver mutations in the Ras signaling pathways are a key feature of JMML patients. Mutations in SETBP1 and JAK3 were recently identified in a subset of JMML patients characterized by poor prognosis and progression of disease. In this study, we report the results of a screening for mutations in SETBP1 and JAK3 of a cohort of seventy Italian patients with JMML, identifying 11.4% of them harboring secondary mutations in these two genes and discovering two new mutations in the SKI domain of SETBP1...
May 17, 2016: Oncotarget
https://www.readbyqxmd.com/read/26883102/myeloid-neoplasms-with-isolated-isochromosome-17q-demonstrate-a-high-frequency-of-mutations-in-setbp1-srsf2-asxl1-and-nras
#13
Rashmi Kanagal-Shamanna, Rajyalakshmi Luthra, Cameron C Yin, Keyur P Patel, Koichi Takahashi, Xinyan Lu, John Lee, Chong Zhao, Francesco Stingo, Zhuang Zuo, Mark J Routbort, Rajesh R Singh, Patricia Fox, Farhad Ravandi, Guillermo Garcia-Manero, L Jeffrey Medeiros, Carlos E Bueso-Ramos
Isolated isochromosome 17q, i(17q), accounts for less than 1% of myeloid neoplasms that are commonly classified as myelodysplastic/myeloproliferative neoplasms, acute myeloid leukemia (AML), myelodysplastic syndrome (MDS) or myeloproliferative neoplasms (MPN). We have shown previously that these cases have distinctive clinicopathologic features, a poor prognosis and absence of TP53 mutations. However, their molecular mutation profile has not been studied. Here, we explored the mutation profile of 32 cases of myeloid neoplasm with isolated i(17q) that included AML, MDS/MPN, MDS and MPN...
March 22, 2016: Oncotarget
https://www.readbyqxmd.com/read/26874914/predictors-of-survival-in-refractory-anemia-with-ring-sideroblasts-and-thrombocytosis-rars-t-and-the-role-of-next-generation-sequencing
#14
COMPARATIVE STUDY
Mrinal M Patnaik, Terra L Lasho, Christy M Finke, Curtis A Hanson, Rebecca L King, Rhett P Ketterling, Naseema Gangat, Ayalew Tefferi
Refractory anemia with ring sideroblasts and thrombocytosis (RARS-T) shares overlapping features of myelodysplastic syndromes (MDS) and myeloproliferative neoplasms (MPN). RARS-T is characterized by SF3B1 and JAK2 mutations and prognosis is considered to be better than MDS but not as good as MPN. The objective of the study was to identify predictors of survival in RARS-T. We analyzed clinical and laboratory variables in 82 patients and applied a 27-gene NGS assay to 48 marrow samples obtained at diagnosis. 94% of patients had ≥1 mutations; common mutations being: SF3B1 85%, JAK2V617F 33%, ASXL1 29%, DNMT3A 13%, SETBP1 13% and TET2 10%...
May 2016: American Journal of Hematology
https://www.readbyqxmd.com/read/26771811/prognostic-interaction-between-asxl1-and-tet2-mutations-in-chronic-myelomonocytic-leukemia
#15
M M Patnaik, T L Lasho, P Vijayvargiya, C M Finke, C A Hanson, R P Ketterling, N Gangat, A Tefferi
Mutations involving epigenetic regulators (TET2~60% and ASXL1~40%) and splicing components (SRSF2~50%) are frequent in chronic myelomonocytic leukemia (CMML). On a 27-gene targeted capture panel performed on 175 CMML patients (66% males, median age 70 years), common mutations included: TET2 46%, ASXL1 47%, SRSF2 45% and SETBP1 19%. A total of 172 (98%) patients had at least one mutation, 21 (12%) had 2, 24 (14%) had 3 and 30 (17%) had >3 mutations. In a univariate analysis, the presence of ASXL1 mutations (P=0...
January 15, 2016: Blood Cancer Journal
https://www.readbyqxmd.com/read/26700908/chronic-neutrophilic-leukemia-2016-update-on-diagnosis-molecular-genetics-prognosis-and-management
#16
REVIEW
Michelle A Elliott, Ayalew Tefferi
Chronic neutrophilic leukemia (CNL) is a potentially aggressive myeloproliferative neoplasm, for which current WHO diagnostic criteria include leukocytosis of ≥25 × 10(9) /L (of which >80% are neutrophils) and with <10 and <1% circulating immature granulocytes and blasts, respectively without dysplasia, clinical, or molecular criteria for other myeloproliferative disorders, nor an identifiable cause for physiologic neutrophilia in the absence of markers of myeloid clonality. Such a pathogenic clonal marker has now been identified as a somatic activating mutation of CSF3R, most commonly CSF3R T618I, thus demanding revision of the current WHO diagnostic classification to include the molecular criterion of mutated CSF3R...
March 2016: American Journal of Hematology
https://www.readbyqxmd.com/read/26648538/age-related-mutations-and-chronic-myelomonocytic-leukemia
#17
COMPARATIVE STUDY
C C Mason, J S Khorashad, S K Tantravahi, T W Kelley, M S Zabriskie, D Yan, A D Pomicter, K R Reynolds, A M Eiring, Z Kronenberg, R L Sherman, J W Tyner, B K Dalley, K-H Dao, M Yandell, B J Druker, J Gotlib, T O'Hare, M W Deininger
Chronic myelomonocytic leukemia (CMML) is a hematologic malignancy nearly confined to the elderly. Previous studies to determine incidence and prognostic significance of somatic mutations in CMML have relied on candidate gene sequencing, although an unbiased mutational search has not been conducted. As many of the genes commonly mutated in CMML were recently associated with age-related clonal hematopoiesis (ARCH) and aged hematopoiesis is characterized by a myelomonocytic differentiation bias, we hypothesized that CMML and aged hematopoiesis may be closely related...
April 2016: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
https://www.readbyqxmd.com/read/26637732/what-s-different-about-atypical-cml-and-chronic-neutrophilic-leukemia
#18
REVIEW
Kim-Hien T Dao, Jeffrey W Tyner
Atypical chronic myeloid leukemia (aCML) and chronic neutrophilic leukemia (CNL) are rare myeloid neoplasms defined largely by morphologic criteria. The discovery of CSF3R mutations in aCML and CNL have prompted a more comprehensive genetic profiling of these disorders. These studies have revealed aCML to be a genetically more heterogeneous disease than CNL, however, several groups have reported that SETBP1 and ASXL1 mutations occur at a high frequency and carry prognostic value in both diseases. We also report a novel finding-our study reveals a high frequency of U2AF1 mutations at codon Q157 associated with CSF3R mutant myeloid neoplasms...
2015: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/26622734/chronic-neutrophilic-leukemia-with-overexpression-of-evi-1-and-concurrent-csf3r-and-setbp1-mutations-a-case-report
#19
Otgonbat Altangerel, Shannan Cao, Juanxia Meng, Peng Liu, Gong Haiyan, Yuanfu Xu, Mingfeng Zhao
Chronic neutrophilic leukemia (CNL) is a rare type of myeloproliferative neoplasm, characterized by sustained neutrophilia, splenomegaly, bone marrow granulocytic hyperplasia (without evidence of dysplasia) and an absence of the Philadelphia chromosome. Thus far, ~150 cases of CNL have been described in the literature; however, none have demonstrated overexpression of the ecotropic viral integration site-1 (EVI-1, also known as MECOM) gene. The present study describes a case that fulfilled the World Health Organization diagnostic criteria for CNL, and was associated with overexpression of EVI-1, as well as novel concurrent mutations of colony stimulating factor 3 receptor (CSF3R) and SET binding protein-1 (SETBP1)...
September 2015: Oncology Letters
https://www.readbyqxmd.com/read/26476543/clinical-evaluation-of-a-novel-nine-gene-panel-for-ion-torrent-pgm-sequencing-of-myeloid-malignancies
#20
Milena Ivanova, Velizar Shivarov, Ivan Pavlov, Konstantinos Lilakos, Elissaveta Naumova
BACKGROUND AND OBJECTIVE: In the last decade, a number of genes have been reported to be recurrently associated with myeloid malignancies. While some mutations are easily detectable by conventional molecular genetics methods, other mutations are more difficult to screen because of lower frequency and being scattered along large genomic ranges. However, newly developed approaches for next-generation sequencing provide an affordable solution for targeted multiplex resequencing of up to several hundreds of amplicons...
February 2016: Molecular Diagnosis & Therapy
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