scholarly journals Microarray-based DNA resequencing using 3′ blocked primers

2008 ◽  
Vol 374 (1) ◽  
pp. 41-47 ◽  
Author(s):  
Jakub Sram ◽  
Steve S. Sommer ◽  
Qiang Liu
Keyword(s):  
Dna Resequencing

scholarly journals Application of High-Density DNA Resequencing Microarray for Detection and Characterization of Botulinum Neurotoxin-Producing Clostridia

PLoS ONE ◽  
2013 ◽  
Vol 8 (6) ◽  
pp. e67510 ◽  
Author(s):  
Jessica Vanhomwegen ◽  
Nicolas Berthet ◽  
Christelle Mazuet ◽  
Ghislaine Guigon ◽  
Tatiana Vallaeys ◽  
...  
Keyword(s):  
Botulinum Neurotoxin ◽  
High Density ◽  
Dna Resequencing

scholarly journals Pooled DNA Resequencing of 68 Myocardial Infarction Candidate Genes in French Canadians

2012 ◽  
Vol 5 (5) ◽  
pp. 547-554 ◽  
Author(s):  
Mélissa Beaudoin ◽  
Ken Sin Lo ◽  
Amidou N’Diaye ◽  
Manuel A. Rivas ◽  
Marie-Pierre Dubé ◽  
...  
Keyword(s):  
Myocardial Infarction ◽  
Candidate Genes ◽  
French Canadians ◽  
Pooled Dna ◽  
Dna Resequencing

Establishment and characterization of a novel Waldenström macroglobulinemia cell line, MWCL-1

Blood ◽  
2011 ◽  
Vol 117 (19) ◽  
pp. e190-e197 ◽  
Author(s):  
Lucy S. Hodge ◽  
Anne J. Novak ◽  
Deanna M. Grote ◽  
Esteban Braggio ◽  
Rhett P. Ketterling ◽  
...  
Keyword(s):  
Cell Line ◽  
Plasma Cells ◽  
Immunoglobulin M ◽  
Waldenström Macroglobulinemia ◽  
Waldenstrom Macroglobulinemia ◽  
Representative Cell ◽  
Representative Model ◽  
Dna Resequencing ◽  
Tumor Clone

Abstract Waldenström macroglobulinemia (WM) is a rare, lymphoplasmacytic lymphoma characterized by hypersecretion of immunoglobulin M (IgM) protein and tumor infiltration into the bone marrow and lymphatic tissue. Our understanding of the mechanisms driving the development and progression of WM is currently by the shortage of representative cell models available for study. We describe here the establishment of a new WM cell line, MWCL-1. Comprehensive genetic analyses have unequivocally confirmed a clonal relationship between this novel cell line and the founding tumor. MWCL-1 cells exhibit an immunophenotype consistent with a diverse, tumor clone composed of both small B lymphocytes and larger lymphoplasmacytic cells and plasma cells: CD3−, CD19+, CD20+, CD27+, CD38+, CD49D+, CD138+, cIgM+, and κ+. Cytogenetic studies identified a monoallelic deletion of 17p13 (TP53) in both the cell line and the primary tumor. Direct DNA resequencing of the remaining copy of TP53 revealed a missense mutation at exon 5 (V143A, GTG>GCG). In accordance with primary WM tumors, MWCL-1 cells retain the ability to secrete high amounts of IgM protein in the absence of an external stimulus. The genetic, immunophenotypic, and biologic data presented here confirm the validity of the MWCL-1 cell line as a representative model of WM.

scholarly journals Does massively parallel DNA resequencing signify the end of histopathology as we know it?

2009 ◽  
Vol 220 (2) ◽  
pp. 307-315 ◽  
Author(s):  
Samuel AJR Aparicio ◽  
David G Huntsman
Keyword(s):  
Massively Parallel ◽  
Dna Resequencing

Rapid detection of genetic variants in hypertrophic cardiomyopathy by custom DNA resequencing array in clinical practice

2011 ◽  
Vol 48 (8) ◽  
pp. 572-576 ◽  
Author(s):  
S. Fokstuen ◽  
A. Munoz ◽  
P. Melacini ◽  
S. Iliceto ◽  
A. Perrot ◽  
...  
Keyword(s):  
Clinical Practice ◽  
Hypertrophic Cardiomyopathy ◽  
Genetic Variants ◽  
Rapid Detection ◽  
Dna Resequencing

scholarly journals Power and limits of capture‐based, targeted DNA resequencing for mutation detection

2012 ◽  
Vol 17 (B) ◽  
pp. 41
Author(s):  
Fabrice Lopez ◽  
Hélène Holota ◽  
François-Xavier Théodule ◽  
Jean Imbert
Keyword(s):  
Mutation Detection ◽  
Dna Resequencing

scholarly journals A MexR Mutation Which Confers Aztreonam Resistance to Pseudomonas aeruginosa

2021 ◽  
Vol 12 ◽  
Author(s):  
Zhenzhen Ma ◽  
Congjuan Xu ◽  
Xinxin Zhang ◽  
Dan Wang ◽  
Xiaolei Pan ◽  
...  
Keyword(s):  
Pseudomonas Aeruginosa ◽  
Antibiotic Resistance ◽  
Clinical Setting ◽  
Gene Editing ◽  
Efflux Pump ◽  
Resistance Mechanism ◽  
Resistance Development ◽  
Host Environment ◽  
Dna Resequencing ◽  
First Time

Therapy for Pseudomonas aeruginosa infections is hard due to its high natural and acquirable antibiotic resistance. After colonization in the hosts, P. aeruginosa commonly accumulates genomic mutations which confer them antibiotic resistance and better adaptations to the host environment. Deciphering the mechanisms of antibiotic resistance development in the clinical setting may provide critical insights into the design of effective combinatory antibiotic therapies to treat P. aeruginosa infections. In this work, we demonstrate a resistance mechanism to aztreonam of a clinical isolate (ARP36) in comparison with a sensitive one (CSP18). RNAseq and genomic DNA resequencing were carried out to compare the global transcriptional profiles and in the clinical setting genomic profiles between these two isolates. The results demonstrated that hyperexpression of an efflux pump MexAB-OprM caused by a R70Q substitution in MexR, contributed to the increased resistance to aztreonam in the isolate ARP36. Simulation of mexR of ARP36 by gene editing in CSP18 conferred CSP18 an ARP36-like susceptibility to the aztreonam. The R70Q substitution prevented MexR from binding to the intergenic region between mexR and mexAB-oprM operon, with no impact on its dimerization. The presented experimental results explain for the first time why the clinically relevant R70Q substitution in the MexR derepresses the expression of mexAB-oprM in P. aeruginosa.

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