keyword
MENU ▼
Read by QxMD icon Read
search

Exon 19

keyword
https://www.readbyqxmd.com/read/28934323/identification-chromosomal-arrangements-and-expression-analyses-of-the-evolutionarily-conserved-prmt1-gene-in-chicken-in-comparison-with-its-vertebrate-paralogue-prmt8
#1
Yi-Chun Wang, Chien-Wen Wang, Wen-Chang Lin, Yun-Jung Tsai, Chien-Ping Chang, Yu-Jen Lee, Min-Jon Lin, Chuan Li
Nine protein arginine methyltransferases (PRMTs) are conserved in mammals and fish. Among these, PRMT1 is the major type I PRMT for asymmetric dimethylarginine (ADMA) formation and is the most conserved and widely distributed one. Two chicken prmt1 splicing variants were assembled and confirmed by RT-PCR experiments. However, only two scaffolds containing single separate prmt1 exon with high GC contents are present in the current chicken genome assembly. Besides, prmt1 exons are scattered in separate small scaffolds in most avian species...
2017: PloS One
https://www.readbyqxmd.com/read/28932557/correlation-between-egfr-mutation-status-and-the-incidence-of-brain-metastases-in-patients-with-non-small-cell-lung-cancer
#2
Lina Li, Shuimei Luo, Heng Lin, Haitao Yang, Huijuan Chen, Ziyuan Liao, Wanzun Lin, Weili Zheng, Xianhe Xie
BACKGROUND: Lung cancer is the leading cause of cancer-related death worldwide. Numerous studies have been performed to investigate the correlation between epidermal growth factor receptor (EGFR) mutation status and the incidence of brain metastases (BMs) in patients with non-small cell lung cancer (NSCLC), however, the outcomes were inconsistent. Thus, we performed this study to establish the role of EGFR mutation status in BMs. METHODS: Electronic databases PubMed, Embase, Cochrane Library, CBM, WanFang, CNKI were searched to identify relevant trials...
August 2017: Journal of Thoracic Disease
https://www.readbyqxmd.com/read/28927745/apolipoprotein-m-gene-single-nucleotide-polymorphisms-discovery-in-patients-with-chronic-obstructive-pulmonary-disease-and-determined-by-the-base-quenched-probe-technique
#3
Yang Yu, Jun Zhang, Yingying Qiao, Lili Pan, Juzhang Li, Huihui Mao, Jiang Wei, Xiaoying Zhang, Ning Xu, Guanghua Luo
BACKGROUND: It has been reported increased serum apoM levels seen in the patients suffered from obstructive sleep apnoea and chronic obstructive pulmonary diseases. In the present, we further examine the prevalence of apoM gene SNPs in COPD patients. And a new method base-quenched probe technique is established. METHODS: In the present study, we first used the Roche 454 GS Junior high-throughput sequencer to analyze 6 COPD samples and 6 control samples, in these samples we found 3 interesting SNPs (rs805264, rs707922 and rs707921) and then we designed primers and probes to establish a simple and quick screening method that is a base-quench probe technique and the genotype was confirmed by melting curves...
September 16, 2017: Gene
https://www.readbyqxmd.com/read/28924541/the-lrp1-gene-polymorphism-is-associated-with-increased-risk-of-metabolic-syndrome-prevalence-in-the-serbian-population
#4
N Vučinić, E Stokić, I Djan, D Obreht, N Veličković, K Stankov, M Djan
The determination of genetic background in metabolic syndrome (MetS) represents one of the necessary steps to prevent the disorder, thus reducing the cost of medical treatments and helping to design targeted therapy. The study explores the association between individual alleles of the LRP1 gene and the diagnosis of MetS to find correlation between the low-density lipoprotein receptor-related (LRP1) gene polymorphism and each individual anthropometric and biochemical parameter. The study included 93 males and females, aged from 19 to 65, divided into two groups...
June 30, 2017: Balkan Journal of Medical Genetics: BJMG
https://www.readbyqxmd.com/read/28924228/an-expanded-role-for-heterozygous-mutations-of-abcb4-abcb11-atp8b1-abcc2-and-tjp2-in-intrahepatic-cholestasis-of-pregnancy
#5
Peter H Dixon, Melissa Sambrotta, Jennifer Chambers, Pamela Taylor-Harris, Argyro Syngelaki, Kypros Nicolaides, A S Knisely, Richard J Thompson, Catherine Williamson
Intrahepatic cholestasis of pregnancy (ICP) affects 1/140 UK pregnancies; with pruritus, hepatic impairment and elevated serum bile acids. Severe disease is complicated by spontaneous preterm delivery and stillbirth. Previous studies have reported mutations in hepatocellular transporters (ABCB4, ABCB11). High throughput sequencing in 147 patients was performed in the transporters ABCB4, ABCB11, ATP8B1, ABCC2 and tight junction protein 2 (TJP2). Twenty-six potentially damaging variants were identified with the following predicted protein changes: Twelve ABCB4 mutations - Arg47Gln, Met113Val, Glu161Gly, Thr175Ala, Glu528Glyfs*6, Arg590Gln, Ala601Ser, Glu884Ter, Gly722Ala, Tyr775Met (x2), Trp854Ter...
September 18, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28923495/crispr-cas9-engineering-of-adult-mouse-liver-demonstrates-that-the-dnajb1-prkaca-gene-fusion-is-sufficient-to-induce-tumors-resembling-fibrolamellar-hepatocellular-carcinoma
#6
Lars H Engelholm, Anjum Riaz, Denise Serra, Frederik Dagnæs-Hansen, Jens V Johansen, Eric Santoni-Rugiu, Steen H Hansen, Francesco Niola, Morten Frödin
BACKGROUND & AIMS: Fibrolamellar hepatocellular carcinoma (FL-HCC) is a primary liver cancer that predominantly affects young adults with no underlying liver disease. A somatic, 400 Kb deletion on chromosome 19 that fuses part of the DnaJ heat shock protein family (Hsp40) member B1 gene (DNAJB1) to the protein kinase cAMP-activated catalytic subunit alpha gene (PRKACA) has been repeatedly identified in patients with FL-HCC. However, the DNAJB1-PRKACA gene fusion has not been shown to induce liver tumorigenesis...
September 15, 2017: Gastroenterology
https://www.readbyqxmd.com/read/28919784/durable-complete-remission-of-poor-performance-status-metastatic-lung-adenocarcinoma-patient-treated-with-second-line-erlotinib-a-case-report
#7
Dragana Jovanovic, Ruza Stevic, Marta Velinovic, Milica Kontic, Dragana Maric, Jelena Spasic, Davorin Radosavljevic
This paper presents a rare case of an elderly patient treated with erlotinib for disseminated lung adenocarcinoma with poor performance status (Eastern Cooperative Oncology Group performance status [PS]3). This treatment led to a long duration of complete remission according to Response Evaluation Criteria in Solid Tumors 1.1 - almost 7 years (81 months) of progression-free survival (PFS) and overall survival (OS) of 10 years by March 2017. The treatment with erlotinib started in September 2008 and it was well tolerated with no adverse effects...
2017: OncoTargets and Therapy
https://www.readbyqxmd.com/read/28918391/genetic-polymorphisms-associated-with-the-risk-of-concussion-in-1056-college-athletes-a-multicentre-prospective-cohort-study
#8
Thomas Roland Terrell, Ruth Abramson, Jeffery T Barth, Ellen Bennett, Robert C Cantu, Richard Sloane, Daniel T Laskowitz, David M Erlanger, Douglas McKeag, Gregory Nichols, Verle Valentine, Leslie Galloway
BACKGROUND/AIM: To evaluate the association of genetic polymorphisms APOE, APOE G-219T promoter, microtubule associated protein(MAPT)/tau exon 6 Ser(53)Pro, MAPT/tau Hist(47)Tyr, IL-6572 G/C and IL-6R(Asp)358(Ala) with the risk of concussion in college athletes. METHODS: A 23-centre prospective cohort study of 1056 college athletes with genotyping was completed between August 2003 and December 2012. All athletes completed baseline medical and concussion questionnaires, and post-concussion data were collected for athletes with a documented concussion...
September 16, 2017: British Journal of Sports Medicine
https://www.readbyqxmd.com/read/28911086/large-scale-prospective-screening-of-egfr-mutations-in-the-blood-of-advanced-nsclc-patients-to-guide-treatment-decisions
#9
C Mayo-de-Las-Casas, N Jordana-Ariza, M Garzón-Ibañez, A Balada-Bel, J Bertrán-Alamillo, S Viteri-Ramírez, N Reguart, M A Muñoz-Quintana, P Lianes-Barragan, C Camps, E Jantús, J Remon-Massip, S Calabuig, D Aguiar, M L Gil, N Viñolas, A K Santos-Rodríguez, M Majem, B García-Peláez, S Villatoro, A Pérez-Rosado, J C Monasterio, E Ovalle, M J Catalán, R Campos, D Morales-Espinosa, A Martínez-Bueno, M González-Cao, X González, I Moya-Horno, A E Sosa, N Karachaliou, R Rosell, M A Molina-Vila
Background: In a significant percentage of advanced non-small-cell lung cancer (NSCLC) patients, tumor tissue is unavailable or insufficient for genetic analyses. We prospectively analyzed if circulating-free DNA (cfDNA) purified from blood can be used as a surrogate in this setting to select patients for treatment with epidermal growth factor receptor tyrosine kinase inhibitors (EGFR-TKIs). Patients and methods: Blood samples were collected in 119 hospitals from 1138 advanced NSCLC patients at presentation (n = 1033) or at progression to EGFR-TKIs (n = 105) with no biopsy or insufficient tumor tissue...
September 1, 2017: Annals of Oncology: Official Journal of the European Society for Medical Oncology
https://www.readbyqxmd.com/read/28894381/continuous-egfr-tyrosine-kinase-inhibitor-treatment-with-or-without-chemotherapy-beyond-gradual-progression-in-non-small-cell-lung-cancer-patients
#10
Ling Peng, Yina Wang, Yemin Tang, Lei Zeng, Junfang Liu, Zhu Zeng, Jian Liu, Peng Shi, Xianghua Ye, Qiong Zhao
BACKGROUND: Several clinical studies have demonstrated that continuous administration of epidermal growth factor receptor (EGFR) tyrosine kinase inhibitor (TKI) could provide additional survival benefit for advanced non-small cell lung cancer (NSCLC) patients who had benefited from prior EGFR TKI therapy. However, whether EGFR TKI combined with chemotherapy could further prolong survival in patients with gradual progression is still unclear. The present study was conducted to evaluate the clinical outcome of continuous EGFR TKI treatment in combination with chemotherapy (combination group) versus continuous EGFR TKI treatment only (monotherapy group) in such a clinical setting...
2017: OncoTargets and Therapy
https://www.readbyqxmd.com/read/28893372/dual-effects-of-a-cpg-dnazyme-targeting-mutant-egfr-transcripts-in-lung-cancer-cells-tlr9-activation-and-egfr-downregulation
#11
Dahye Jang, Yu Mi Baek, Hanna Park, Yeo Eun Hwang, Dong-Eun Kim
Non-small-cell lung cancer (NSCLC) is commonly caused by a mutation in the epidermal growth factor receptor (EGFR) and subsequent aberrant EGFR signaling with uncontrolled kinase activity. A deletion mutation in EGFR exon 19 is frequently observed in EGFR gene mutations. We designed a DNAzyme to suppress the expression of mutant EGFR by cleaving the mutant EGFR mRNA. The DNAzyme (named Ex19del Dz) specifically cleaved target RNA and decreased cancer cell viability when transfected into gefitinib-resistant lung cancer cells harboring EGFR exon 19 deletions...
September 12, 2017: BMB Reports
https://www.readbyqxmd.com/read/28893231/involvement-of-dpp9-in-gene-fusions-in-serous-ovarian-carcinoma
#12
Marianne Lislerud Smebye, Antonio Agostini, Bjarne Johannessen, Jim Thorsen, Ben Davidson, Claes Göran Tropé, Sverre Heim, Rolf Inge Skotheim, Francesca Micci
BACKGROUND: A fusion gene is a hybrid gene consisting of parts from two previously independent genes. Chromosomal rearrangements leading to gene breakage are frequent in high-grade serous ovarian carcinomas and have been reported as a common mechanism for inactivating tumor suppressor genes. However, no fusion genes have been repeatedly reported to be recurrent driver events in ovarian carcinogenesis. We combined genomic and transcriptomic information to identify novel fusion gene candidates and aberrantly expressed genes in ovarian carcinomas...
September 11, 2017: BMC Cancer
https://www.readbyqxmd.com/read/28887493/molecular-characterization-of-cell-free-eccdnas-in-human-plasma
#13
Jing Zhu, Fan Zhang, Meijun Du, Peng Zhang, Songbin Fu, Liang Wang
Extrachromosomal circular DNAs (eccDNAs) have been reported in most eukaryotes. However, little is known about the cell-free eccDNA profiles in circulating system such as blood. To characterize plasma cell-free eccDNAs, we performed sequencing analysis in 26 libraries from three blood donors and negative controls. We identified thousands of unique plasma eccDNAs in the three subjects. We observed proportional eccDNA increase with initial DNA input. The detected eccDNAs were also associated with circular DNA enrichment efficiency...
September 8, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28881820/brain-metastases-in-patients-with-non-small-cell-lung-cancer-the-role-of-mutated-egfrs-with-an-exon-19-deletion-or-l858r-point-mutation-in-cancer-cell-dissemination
#14
Shih-Hsin Hsiao, Yu-Ting Chou, Sey-En Lin, Ru-Chun Hsu, Chi-Li Chung, Yu-Rung Kao, H Eugene Liu, Cheng-Wen Wu
Non-small cell lung cancer (NSCLC) patients tend to develop brain metastases (BM), but the link between BM occurrence and driver mutations in NSCLC is not very clear. We explored whether activating mutations of epidermal growth factor receptors (EGFRs) in exon 19 deletion or L858R predict BM in NSCLC. A retrospective multivariable logistic regression analysis of 384 patients demonstrated that the presence of mutated-EGFRs was associated with overall BM (OR=2.24, P=0.001) compared to that of wild-type EGFR (WT-EGFR)...
August 8, 2017: Oncotarget
https://www.readbyqxmd.com/read/28879074/a-case-report-of-egfr-mutant-lung-adenocarcinoma-that-acquired-resistance-to-egfr-tyrosine-kinase-inhibitors-with-t790m-mutation-and-epithelial-to-mesenchymal-transition
#15
Nana Zhang, Depu Wang, Xiaofeng Li, Zhe Yang, Guanjun Zhang, Yili Wang, Chunbao Wang
Although a secondary mutation and the epithelial-to-mesenchymal transition (EMT) are encountered very often in patients received the EGFR-TKI targeted treatment. The entire detrimental morphological change of the cancer entity was rare reported. Herein we report a case that acquired resistance to EGFR-TKI with T790M mutation and complete EMT morphological change of the tumor tissue. The primary lung tumor from a 52-year-old woman was diagnosed with moderate differentiated adenocarcinoma, with intensively positiveTTF-1 and E-cadherin in differentiated glandular structure but not the budding cancer cell cluster which with an intensive Vimentin staining...
2017: Respiratory Medicine Case Reports
https://www.readbyqxmd.com/read/28874890/patterns-of-spread-and-prognostic-implications-of-lung-cancer-metastasis-in-an-era-of-driver-mutations
#16
F Hsu, A De Caluwe, D Anderson, A Nichol, T Toriumi, C Ho
BACKGROUND: In the present study, we examined the pattern of metastatic spread in patients with advanced non-small-cell lung cancer (nsclc) and the effect of EGFR mutations. METHODS: Patients were identified from a provincial cancer registry, and individual medical records were reviewed. Patients were included if they had stage iv nsclc and underwent diagnostic EGFR mutation testing. Patients were divided into EGFR mutation-positive (EGFR+) and EGFR wild type (wt) cohorts...
August 2017: Current Oncology
https://www.readbyqxmd.com/read/28874593/egfr-exon-19-deletion-in-pancreatic-adenocarcinoma-responds-to-erlotinib-followed-by-t790m-mediated-resistance
#17
Michael Cecchini, Jeffrey Sklar, Jill Lacy
The prognosis of metastatic pancreatic cancer remains poor despite recent advances in treatment with multidrug chemotherapy regimens. Use of immune checkpoint inhibitors and molecular targeted therapies has so far been disappointing. This report describes a patient with chemotherapy-refractory metastatic pancreatic ductal adenocarcinoma (PDAC) whose tumor was characterized by an activating mutation in exon 19 of the epidermal growth factor receptor (EGFR). He experienced response to erlotinib for 10 months, and then developed disease progression in association with emergence of the T790M mutation...
September 2017: Journal of the National Comprehensive Cancer Network: JNCCN
https://www.readbyqxmd.com/read/28869103/clinical-manifestations-and-stk11-germline-mutations-in-taiwanese-patients-with-peutz-jeghers-syndrome
#18
Jy-Ming Chiang, Tse-Ching Chen
BACKGROUNDS: Clinical manifestations and molecular basis of Taiwanese patients with Peutz-Jeghers syndrome (PJS) were investigated to add the knowledge of phenotype and genotype of the disease. METHODS: Based on the Pathology Data Bank and the Colorectal Cancer Register, we collected their clinical data. The entire coding sequence of the STK11 gene was amplified and analyzed by sequencing using the genomic DNA. RESULTS: Fifteen patients diagnosed with PJS from 11 unrelated families were collected until 2015...
August 28, 2017: Asian Journal of Surgery
https://www.readbyqxmd.com/read/28868565/comparison-of-the-amplification-refractory-mutation-system-super-amplification-refractory-mutation-system-and-droplet-digital-pcr-for-t790%C3%A2-m-mutation-detection-in-non-small-cell-lung-cancer-after-failure-of-tyrosine-kinase-inhibitor-treatment
#19
Lucheng Zhu, Shirong Zhang, Yanping Xun, Yanping Jiang, Bing Xia, Xueqin Chen, Limin Wang, Hong Jiang, Shenglin Ma
Plasma mutation detection has the advantages of non-invasiveness and accessibility. Here, we evaluated three methods, the amplification refractory mutation system (ARMS), second-generation ARMS (SuperARMS), and droplet digital PCR (ddPCR), to assess their concordance and feasibility for the detection of mutations in plasma samples. Non-small lung cancer patients with stage IIIB/IV that were resistant to epidermal growth factor receptor-tyrosine kinase inhibitor (EGFR-TKI) treatment were enrolled. Blood samples were collected within 14 days after TKI resistance...
September 3, 2017: Pathology Oncology Research: POR
https://www.readbyqxmd.com/read/28855035/-retrospective-study-of-efficacy-in-bim-gene-polymorphism-on-first-line-egfr-tkis-treatment-for-advanced-lung-adenocarcinoma
#20
Kun Qian, Yi Zhang, Xiuyi Zhi
BACKGROUND: The aim of this study is to detect the BIM polymorphism in 85 formalin-fixed and parrffin-embedded (FFPE) and some blood samples of advanced lung adenocarcinoma patients and study the relativity betweenthe BIM polymorphism and tyrosine kinase inhibitor (TKI). The correlation between BIM detection of different types of specimens was discussed. METHODS: There were 85 patients who were diagnosed as advanced lung adenocarcinoma with epidermal growth factor receptor (EGFR) 19 or 21 exon mutation in thoracic surgery of Xuanwu Hospital from February 2013 to November 2014, all of who were received EGFR-TKI as first-line treatment in the study...
August 20, 2017: Zhongguo Fei Ai za Zhi, Chinese Journal of Lung Cancer
keyword
keyword
106493
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"