keyword
MENU ▼
Read by QxMD icon Read
search

mutational clone

keyword
https://www.readbyqxmd.com/read/29167743/prevalence-and-characteristics-of-st131-clone-among-unselected-clinical-escherichia-coli-in-a-chinese-university-hospital
#1
Bin Li, Yanfang Lu, Fangjun Lan, Qingwen He, Chen Li, Yingping Cao
Background: Escherichia coli clinical sequence type 131 (ST131) has emerged as an extensively antimicrobial resistant E. coli clonal group in recent years throughout the world. The aim of this study was to investigate the prevalence and molecular characteristics of ST131 among unselected E. coli clinical isolates in a Chinese university hospital. Methods: Seven hundred consecutive E. coli isolates were collected at a Chinese university hospital between 2014 and 2015...
2017: Antimicrobial Resistance and Infection Control
https://www.readbyqxmd.com/read/29167553/updated-summary-of-genome-editing-technology-in-human-cultured-cells-linked-to-human-genetics-studies
#2
REVIEW
Tatsuo Miyamoto, Silvia Natsuko Akutsu, Shinya Matsuura
Current deep-sequencing technology provides a mass of nucleotide variations associated with human genetic disorders to accelerate the identification of causative mutations. To understand the etiology of genetic disorders, reverse genetics in human cultured cells is a useful approach for modeling a disease in vitro. However, gene targeting in human cultured cells is difficult because of their low activity of homologous recombination. Engineered endonucleases enable enhancement of the local activation of DNA repair pathways at the human genome target site to rewrite the desired sequence, thereby efficiently generating disease-modeling cultured cell clones...
October 11, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/29167341/novel-synthesis-and-phenotypic-analysis-of-mutant-clouds-for-hepatitis-e-virus-genotype-1
#3
Shubhra Agarwal, Prasith Baccam, Rakesh Aggarwal, Naga Suresh Veerapu
Many RNA viruses exist as an ensemble of genetically-diverse, replicating populations, known as mutant cloud. The genetic diversity (cloud size) and composition of this mutant cloud may influence several important phenotypic features of the virus, including its replication capacity. We applied a straightforward, bacterium-free approach using error-prone PCR coupled with reverse genetics to generate infectious mutant RNA clouds of varying genetic diversity from a genotype 1 strain of hepatitis E virus (HEV)...
November 22, 2017: Journal of Virology
https://www.readbyqxmd.com/read/29166739/-study-of-the-effects-and-mechanism-of-all-trans-retinoic-acid-on-leukemic-cell-line-u937-cells-with-npm1-mutation
#4
S W Qiu, Y L Wan, Y J Jia, Q Rao, M Wang, J X Wang
Objective: To investigate the effect and mechanism of all-trans retinoic acid (ATRA) on leukemic cell line U937 cells with NPM1 mutation. Methods: Human acute myeloid leukemia cell line U937 was explored, NPM1 mutated (A type) plasmids were transfected into U937 to form stable clones A1 and A2, which were identified by Western blot and Co-immunoprecipitation. The cell proliferation was measured by methylthiazolyl tetrazolium bromide (MTT) ; cell cycle and cell apoptosis were explored by flow cytometric; cell colony formation was measured by microscope count, the molecular pathways related to cell proliferation were measured by Western blot...
October 14, 2017: Zhonghua Xue Ye Xue za Zhi, Zhonghua Xueyexue Zazhi
https://www.readbyqxmd.com/read/29165618/human-specific-mutations-and-positively-selected-sites-in-marco-confer-functional-changes
#5
Kyle E Novakowski, Nicholas V L Yap, Charles Yin, Kaori Sakamoto, Bryan Heit, G Brian Golding, Dawn M E Bowdish
Macrophage Receptor with COllagenous structure (MARCO) is a class A scavenger receptor that binds, phagocytoses, and modifies inflammatory responses to bacterial pathogens. Multiple candidate gene approach studies have shown that polymorphisms in MARCO are associated with susceptibility or resistance to Mycobacterium tuberculosis infection, but how these variants alter function is not known. To complement candidate gene approach studies, we previously used phylogenetic analyses to identify a residue, glutamine 452 (Q452), within the ligand-binding Scavenger Receptor Cysteine Rich (SRCR) domain as undergoing positive selection in humans...
November 20, 2017: Molecular Biology and Evolution
https://www.readbyqxmd.com/read/29164518/reducing-production-of-fumonisin-mycotoxins-in-fusarium-verticillioides-by-rna-interference
#6
Eric T Johnson, Robert H Proctor, Christopher A Dunlap, Mark Busman
The fungus Fusarium verticillioides is a maize pathogen that can produce fumonisin mycotoxins in ears under certain environmental conditions. Because fumonisins pose health risks to humans and livestock, control strategies with minimal risk to the environment are needed to reduce fumonisin contamination. Host-induced gene silencing is a promising technique in which double-stranded RNA expressed in the plant host is absorbed by an invading fungus and down-regulates genes critical for pathogenicity or mycotoxin production in the fungus...
November 22, 2017: Mycotoxin Research
https://www.readbyqxmd.com/read/29162980/functional-studies-of-ccaat-enhancer-binding-protein-site-located-downstream-of-the-transcriptional-start-site
#7
Yujie Liu, Michael R Nonnemacher, Aikaterini Alexaki, Vanessa Pirrone, Anupam Banerjee, Luna Li, Evelyn Kilareski, Brian Wigdahl
Previous studies have identified a CCAAT/enhancer binding protein (C/EBP) site located downstream of the transcriptional start site (DS3). The role of the DS3 element with respect to HIV-1 transactivation by Tat and viral replication has not been characterized. We have demonstrated that DS3 was a functional C/EBPβ binding site and mutation of this site to the C/EBP knockout DS3-9C variant showed lower HIV-1 long terminal repeat (LTR) transactivation by C/EBPβ. However, it was able to exhibit similar or even higher transcription levels by Tat compared to the parental LTR...
2017: Clinical Medicine Insights. Pathology
https://www.readbyqxmd.com/read/29162833/the-combination-of-chk1-inhibitor-with-g-csf-overrides-cytarabine-resistance-in-human-acute-myeloid-leukemia
#8
Alessandro Di Tullio, Kevin Rouault-Pierre, Ander Abarrategi, Syed Mian, William Grey, John Gribben, Aengus Stewart, Elizabeth Blackwood, Dominique Bonnet
Cytarabine (AraC) represents the most effective single agent treatment for AML. Nevertheless, overriding AraC resistance in AML remains an unmet medical need. Here we show that the CHK1 inhibitor (CHK1i) GDC-0575 enhances AraC-mediated killing of AML cells both in vitro and in vivo, thus abrogating any potential chemoresistance mechanisms involving DNA repair. Importantly, this combination of drugs does not affect normal long-term hematopoietic stem/progenitors. Moreover, the addition of CHK1i to AraC does not generate de novo mutations and in patients' samples where AraC is mutagenic, addition of CHK1i appears to eliminate the generation of mutant clones...
November 22, 2017: Nature Communications
https://www.readbyqxmd.com/read/29162772/functional-alteration-of-canine-isocitrate-dehydrogenase-2-idh2-via-an-r174k-mutation
#9
Shota Kawakami, Kazuhiko Ochiai, Yuiko Kato, Masaki Michishita, Hinako Hirama, Ryo Obara, Daigo Azakami, Masami Watanabe, Toshinori Omi
Gliomas are common intracranial neoplasias in dogs. However, the underlying pathogenic mechanisms remain unclear. In humans, isocitrate dehydrogenase 2 (IDH2) is often mutated in gliomas. Although almost human IDH2 mutations have been identified at the Arg172 codon, few studies have reported structural, functional, or mutational information for canine IDH2. In this study, we cloned the full-length canine IDH2 (cIDH2) cDNA and substituted wild type Arg174 (cIDH2 WT: corresponding to R172 of human IDH2) with Lys (cIDH2 R174K)...
November 21, 2017: Journal of Veterinary Medical Science
https://www.readbyqxmd.com/read/29162652/elucidating-the-pathogenesis-of-synchronous-and-metachronous-tumors-in-a-woman-with-endometrioid-carcinomas-using-a-whole-exome-sequencing-approach
#10
Ren-Chin Wu, Ema Veras, Jeffrey Lin, Emily Gerry, Asli Bahadirli-Talbott, Alexander Baras, Ayse Ayhan, Ie-Ming Shih, Tian-Li Wang
Synchronous endometrial and ovarian (SEO) carcinomas involve endometrioid neoplasms in both the ovary and uterus at the time of diagnosis. Patients were traditionally classified as having independent primary SEO lesions or as having metastatic endometrioid carcinoma. Recent studies have supported that SEO tumors result from the dissemination of cells from one organ site to another. However, whether this can be considered a "metastasis" or "dissemination" remains unclear. In this report, we performed whole-exome sequencing of tumor samples from a woman with well-differentiated endometrioid SEO tumors and a clinical "recurrent" poorly differentiated peritoneal tumor that was diagnosed 8 years after the complete resection of the SEO tumors...
November 2017: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/29162348/human-aniridia-limbal-epithelial-cells-lack-expression-of-keratins-k3-and-k12
#11
Lorenz Latta, Arne Viestenz, Tanja Stachon, Sarah Colanesi, Nóra Szentmáry, Berthold Seitz, Barbara Käsmann-Kellner
Patients with aniridia often develop aniridia-related keratopathy (ARK), due to limbal stem cell insufficiency. This study aimed to determine the proliferative capacity and differentiation status of limbal epithelial cells (LECs) in patients with ARK. We also investigated the influences of PAX6 genotype on PAX6-transcript and protein level. Here two patients with aniridia underwent keratoplasty were examined. During the surgery, small limbal biopsies and pannus tissue were excised and processed for cell culture...
November 18, 2017: Experimental Eye Research
https://www.readbyqxmd.com/read/29161294/embryonic-cholesterol-esterification-is-regulated-by-a-cyclic-amp-dependent-pathway-in-yolk-sac-membrane-derived-endodermal-epithelial-cells
#12
Siou-Huei Wang, Han-Jen Lin, Yuan-Yu Lin, Yu-Jen Chen, Yu-Hui Pan, Cheng-Ting Tung, Harry John Mersmann, Shih-Torng Ding
During avian embryonic development, endodermal epithelial cells (EECs) absorb yolk through the yolk sac membrane. Sterol O-acyltransferase (SOAT) is important for esterification and yolk lipid utilization during development. Because the major enzyme for yolk sac membrane cholesteryl ester synthesis is SOAT1, we cloned the avian SOAT1 promoter and elucidated the cellular functions of SOAT1. Treatments with either glucagon, isobutylmethylxanthine (IBMX), an adenylate cyclase activator (forskolin), a cAMP analog (dibutyryl-cAMP), or a low glucose concentration all increased SOAT1 mRNA accumulation in EECs from Japanese quail, suggesting that SOAT1 is regulated by nutrients and hormones through a cAMP-dependent pathway...
2017: PloS One
https://www.readbyqxmd.com/read/29158405/origin-evolution-and-global-transmission-of-community-acquired-staphylococcus-aureus-st8
#13
Lena Strauß, Marc Stegger, Patrick Eberechi Akpaka, Abraham Alabi, Sebastien Breurec, Geoffrey Coombs, Beverly Egyir, Anders Rhod Larsen, Frederic Laurent, Stefan Monecke, Georg Peters, Robert Skov, Birgit Strommenger, François Vandenesch, Frieder Schaumburg, Alexander Mellmann
USA300 is a pandemic clonal lineage of hypervirulent, community-acquired, methicillin-resistant Staphylococcus aureus (CA-MRSA) with specific molecular characteristics. Despite its high clinical relevance, the evolutionary origin of USA300 remained unclear. We used comparative genomics of 224 temporal and spatial diverse S. aureus isolates of multilocus sequence type (ST) 8 to reconstruct the molecular evolution and global dissemination of ST8, including USA300. Analyses of core SNP diversity and accessory genome variations showed that the ancestor of all ST8 S...
November 20, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29156777/patients-with-nsclc-may-display-a-low-ratio-of-p-t790m-vs-activating-egfr-mutations-in-plasma-at-disease-progression-implications-for-personalised-treatment
#14
Marzia Del Re, Paola Bordi, Iacopo Petrini, Eleonora Rofi, Francesca Mazzoni, Lorenzo Belluomini, Enrico Vasile, Giuliana Restante, Francesco Di Costanzo, Alfredo Falcone, Antonio Frassoldati, Ron H N van Schaik, Christi M J Steendam, Antonio Chella, Marcello Tiseo, Riccardo Morganti, Romano Danesi
Introduction: NSCLC harboring activating mutations of EGFR is highly sensitive to first-line EGFR-tyrosine kinase inhibitors (TKIs), but drug resistance depending on the EGFR mutation p.T790M will occur in about 50-60% of patients. Detailed information on the amount of p.T790M plasmatic level associated with resistance to EGFR-TKIs and guidance to treatment with p.T790M-effective TKI depending on these levels, is lacking. Methods: This study enrolled p.T790M-positive patients (n=49) affected by EGFR-mutated NSCLC at progression to first-line EGFR-TKIs and, in selected cases (n=5), after second-line treatment with osimertinib...
October 17, 2017: Oncotarget
https://www.readbyqxmd.com/read/29156680/vemurafenib-resistance-via-de-novo-rbm-genes-mutations-and-chromosome-5-aberrations-is-overcome-by-combined-therapy-with-palbociclib-in-thyroid-carcinoma-with-braf-v600e
#15
Zeus A Antonello, Nancy Hsu, Manoj Bhasin, Giovanni Roti, Mukta Joshi, Paul Van Hummelen, Emily Ye, Agnes S Lo, S Ananth Karumanchi, Christine R Bryke, Carmelo Nucera
Purpose: Papillary thyroid carcinoma (PTC) is the most frequent endocrine tumor. BRAF(V600E) represents the PTC hallmark and is targeted with selective inhibitors (e.g. vemurafenib). Although there have been promising results in clinical trials using these inhibitors, most patients develop resistance and progress. Tumor clonal diversity is proposed as one mechanism underlying drug resistance. Here we have investigated mechanisms of primary and secondary resistance to vemurafenib in BRAF(WT/V600E)-positive PTC patient-derived cells with P16(-/-) (CDKN2A(-/-))...
October 17, 2017: Oncotarget
https://www.readbyqxmd.com/read/29155794/an-array-based-comparative-genomic-hybridization-platform-for-efficient-detection-of-copy-number-variations-in-fast-neutron-induced-medicago-truncatula-mutants
#16
Yuhui Chen, Xianfu Wang, Shunfei Lu, Hongcheng Wang, Shibo Li, Rujin Chen
Mutants are invaluable genetic resources for gene function studies. To generate mutant collections, three types of mutagens can be utilized, including biological such as T-DNA or transposon, chemical such as ethyl methanesulfonate (EMS), or physical such as ionization radiation. The type of mutation observed varies depending on the mutagen used. For ionization radiation induced mutants, mutations include deletion, duplication, or rearrangement. While T-DNA or transposon-based mutagenesis is limited to species that are susceptible to transformation, chemical or physical mutagenesis can be applied to a broad range of species...
November 8, 2017: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/29152650/semi%C3%A2-random-mutagenesis-profile-of-bcr%C3%A2-abl-during-imatinib-resistance-acquirement-in-k562-cells
#17
Yan Dong, Xiaotong Gao, Yingxin Zhao, Mengying Wei, Lingmin Xu, Guodong Yang, Li Liu
Although imatinib is effective in chronic myeloid leukemia treatment, imatinib resistance due to the T315I mutation and/or other mutations is a challenge to be overcome. However, how DNA mutation occurs, particularly the T315I mutation, remains unclear. In the current study, the mutagenesis of BCR‑ABL was analyzed via focusing on the process of drug resistance, rather than the final results. Clone sequencing of the BCR‑ABL gene and other control genes was applied in two imatinib‑resistant cell models...
October 19, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/29152088/aspirin-exerts-high-anti-cancer-activity-in-pik3ca-mutant-colon-cancer-cells
#18
Mancang Gu, Reiko Nishihara, Yang Chen, Wanwan Li, Yan Shi, Yohei Masugi, Tsuyoshi Hamada, Keisuke Kosumi, Li Liu, Annacarolina da Silva, Jonathan A Nowak, Tyler Twombly, Chunxia Du, Hideo Koh, Wenbin Li, Jeffrey A Meyerhardt, Brian M Wolpin, Marios Giannakis, Andrew J Aguirre, Adam J Bass, David A Drew, Andrew T Chan, Charles S Fuchs, Zhi Rong Qian, Shuji Ogino
Evidence suggests that nonsteroidal anti-inflammatory drug aspirin (acetylsalicylic acid) may improve patient survival in PIK3CA-mutant colorectal carcinoma, but not in PIK3CA-wild-type carcinoma. However, whether aspirin directly influences the viability of PIK3CA-mutant colon cancer cells is poorly understood. We conducted in vitro experiments to test our hypothesis that the anti-proliferative activity of aspirin might be stronger for PIK3CA-mutant colon cancer cells than for PIK3CA-wild-type colon cancer cells...
October 20, 2017: Oncotarget
https://www.readbyqxmd.com/read/29152073/molecular-diagnosis-of-citrin-deficiency-in-an-infant-with-intrahepatic-cholestasis-identification-of-a-21-7kb-gross-deletion-that-completely-silences-the-transcriptional-and-translational-expression-of-the-affected-slc25a13-allele
#19
Zhan-Hui Zhang, Wei-Xia Lin, Qi-Qi Zheng, Li Guo, Yuan-Zong Song
Neonatal Intrahepatic Cholestasis caused by Citrin Deficiency (NICCD) arises from biallelic SLC25A13 mutations, and SLC25A13 analysis provides reliable evidences for NICCD definite diagnosis. However, novel large insertions/deletions in this gene could not be detected just by conventional DNA analysis. This study aimed to explore definite diagnostic evidences for an infant highly-suspected to have NICCD. Prevalent mutation screening and Sanger sequencing of SLC25A13 gene just revealed a paternally-inherited mutation c...
October 20, 2017: Oncotarget
https://www.readbyqxmd.com/read/29150045/spectrum-of-benzo-a-pyrene-induced-mutations-in-the-pig-a-gene-of-l5178ytk-cells-identified-with-next-generation-sequencing
#20
Javier Revollo, Yiying Wang, Page McKinzie, Azra Dad, Mason Pearce, Robert H Heflich, Vasily N Dobrovolsky
We used Sanger sequencing and next generation sequencing (NGS) for analysis of mutations in the endogenous X-linked Pig-a gene of clonally expanded L5178YTk(+/-) cells. The clones developed from single cells that were sorted on a flow cytometer based upon the expression pattern of the GPI-anchored marker, CD90, on their surface. CD90-deficient and CD90-proficient cells were sorted from untreated cultures and CD90-deficient cells were sorted from cultures treated with benzo[a]pyrene (B[a]P). Pig-a mutations were identified in all clones developed from CD90-deficient cells; no Pig-a mutations were found in clones of CD90-proficient cells...
December 2017: Mutation Research
keyword
keyword
104765
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"