Publication

A novel dominant mutation of the Na(v)1.4 alpha-subunit domain I leading to sodium channel myotonia

Publications associées (30)

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

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

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

Jörg Hülsken, Paloma Ordonez Moran

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

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

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

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

New methods for developing (bi)cyclic peptides by phage display

Camille Villequey

Cyclic peptide ligands are a promising molecular format for the development of therapeutics. They combine some of the advantages of large protein therapeutics (high affinity and specificity) and of small molecule drugs (accessibility to chemical synthesis ...

EPFL2017

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

Paul Refinetti, Per Olaf Ekstrom

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

Genetic, structural and phenotypic properties of MS2 coliphage with resistance to ClO2 disinfection

Virginie Bachmann, Tamar Kohn, Qingxia Zhong, Petr Leiman, Sergey Nazarov, Anna Carratala Ripolles, Laura Piccinini, Ricardo Cesar Guerrero Ferreira

Common water disinfectants like chlorine have been reported to select for resistant viruses, yet little attention has been devoted to characterizing disinfection resistance. Here, we investigated the resistance of MS2 coliphage to inactivation by chlorine ...

Amer Chemical Soc2016

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