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Concept

Mutation faux sens

Publications associées (28)

The fitness landscape of the codon space across environments

Jeffrey David Jensen, Claudia Bank, Sebastian Matuszewski

Fitness landscapes map the relationship between genotypes and fitness. However, most fitness landscape studies ignore the genetic architecture imposed by the codon table and thereby neglect the potential role of synonymous mutations. To quantify the fitnes ...

NATURE PUBLISHING GROUP2018

Enhanced Rate of Acquisition of Point Mutations in Mouse Intestinal Adenomas Compared to Normal Tissue

Jörg Hülsken

The most prevalent single-nucleotide substitution (SNS) found in cancers is a C-to-T substitution in the CpG motif. It has been proposed that many of these SNSs arise during organismal aging, prior to transformation of a normal cell into a precancerous/can ...

2017

Is detection of intraperitoneal exfoliated tumor cells after surgical resection of rectal cancer a prognostic factor of survival?

Paul Refinetti

Background: The prognostic significance of free cancer cells detected in peritoneal fluid at the time of rectal surgery remains unclear. A substantial number of patients will develop metastatic disease even with successful local treatment. This prospective ...

2017

Whole genome sequencing distinguishes between relapse and reinfection in recurrent leprosy cases

Stewart Cole, Andrej Benjak, Charlotte Avanzi, Philippe Busso, Pushpendra Singh, Jérémie Piton

Background Since leprosy is both treated and controlled by multidrug therapy (MDT) it is important to monitor recurrent cases for drug resistance and to distinguish between relapse and reinfection as a means of assessing therapeutic efficacy. All three obj ...

Public Library Science2017

Potential blindness in children of patients with hereditary bone disease

Mono- and bi-allelic mutations in the low-density lipoprotein receptor related protein 5 (LRP5) may cause osteopetrosis, autosomal dominant and recessive exudative vitreoretinopathy, juvenile osteoporosis, or persistent hyperplastic primary vitreous (PHPV) ...

Springer London Ltd2016

Mitochondrial unfolded protein response, its molecular mechanism and physiological impact

Virginija Jovaisaite

Mitochondria are the main producers of ATP, the energy currency of the cell, and they perform a wide array of other fundamental functions. These organelles are essential not only for cellular metabolism, but also for organismal physiology and lifespan. A r ...

EPFL2016

Identification and Characterization of Tyrosine Kinase Nonreceptor 2 Mutations in Leukemia through Integration of Kinase Inhibitor Screening and Genomic Analysis

Oliver Hantschel, Sina Maren Reckel

The amount of genomic information about leukemia cells currently far exceeds our overall understanding of the precise genetic events that ultimately drive disease development and progression. Effective implementation of personalized medicine will require t ...

American Association for Cancer Research2016

A Balance between Inhibitor Binding and Substrate Processing Confers Influenza Drug Resistance

Jeffrey David Jensen, Claudia Bank

The therapeutic benefits of the neuraminidase (NA) inhibitor oseltamivir are dampened by the emergence of drug resistance mutations in influenza A virus (IAV). To investigate the mechanistic features that underlie resistance, we developed an approach to qu ...

Academic Press Ltd- Elsevier Science Ltd2016