Mutationnisme

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Publications associées (31)

CRX-linked macular dystrophy with intrafamilial variable expressivity

Background: We present a macular dystrophy of differing severity in a single kindred caused by a heterozygous nonsense mutation in CRX. ...

TAYLOR & FRANCIS INC2018

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

The melanization reaction in Drosophila: More than black or white

Jan Paul Dudzic

The melanization reaction is a rapid and important immune mechanism in arthropods. It results in the production of melanin at the site of injury and around invading microbes. The enzymes responsible for melanogenesis are phenoloxidases (PO), which catalyze ...

EPFL2018

Cell lineage tracing in human tissues using somatic mitochondrial mutations

Paul Refinetti

Lineage tracing is a basic concept in developmental biology, as well as diseases related to organ development. A reliable method to track cell lineages in human tissues has the potential to greatly contribute to the fields of oncogenesis, tissue renewal, a ...

EPFL2017

Mapping mitochondrial heteroplasmy in a Leydig tumor by laser capture microdissection and cycling temperature capillary electrophoresis

Stephan Morgenthaler, Paul Refinetti, Per Olaf Ekstrom

Background: The growth of tumor cells is accompanied by mutations in nuclear and mitochondrial genomes creating marked genetic heterogeneity. Tumors also contain non-tumor cells of various origins. An observed somatic mitochondrial mutation would have occu ...

BioMed Central2017

Genotypic, phenotypic and mechanistic insights into viruses with resistance to common water disinfectants

Qingxia Zhong

Infectious diseases caused by waterborne viruses contribute to the global disease burden. An effective barrier to prevent the discharge of waterborne viruses is a disinfection step, yet disinfection is not always efficient at inactivating viruses. This the ...

EPFL2017

LRSAM1-mediated ubiquitylation is disrupted in axonal Charcot-Marie-Tooth disease 2P

Vincenzo Sorrentino

Charcot-Marie-Tooth (CMT) disease type 2 is a genetically heterogeneous group of inherited neuropathies characterized by motor and sensory deficits as a result of peripheral axonal degeneration. We recently reported a frameshift (FS) mutation in the Really ...

Oxford University Press2017

Inferring the age and strength of mutations evolving under positive selection

Nicky Louise Ormond

A fundamental goal of population genetics is to determine and quantify the interplay of mutation, natural selection, genetic drift and migration in shaping allelic frequency changes that underpin evolution-ary change. In this dissertation, I present comput ...

EPFL2017

The Combined Effect of Oseltamivir and Favipiravir on Influenza A Virus Evolution

Jeffrey David Jensen, Claudia Bank, Sebastian Matuszewski, Nicky Louise Ormond

Influenza virus inflicts a heavy death toll annually and resistance to existing antiviral drugs has generated interest in the development of agents with novel mechanisms of action. Favipiravir is an antiviral drug that acts by increasing the genome-wide mu ...

Oxford University Press (OUP)2017

AAV based gene therapy for rare diseases : targeting astrocytes for functional recovery in Amyotrophic Lateral Sclerosis

Cylia Cloé Rochat

Of the seven thousand diseases that are described as rare, 80% of them have an identified genetic cause. With this in the mind, the development of technologies, such as gene therapy, to address the genetic factors involved in these pathologies, might be a ...

EPFL2017

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

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

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

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