Concept

BRCA mutation

Publications associées (35)

Preventive chemotherapy to control soil-transmitted helminthiasis averted more than 500 000 DALYs in 2015

Background: Preventive chemotherapy (PC), the large-scale administration of anthelminthics, is recommended by the World Health Organization (WHO) for the control of soil-transmitted helminthiasis (STH). Since 2010, donated anthelminthics for STH have boost ...

Oxford University Press2018

Biochemical and biophysical characterization of ruthenation of BRCA1 RING protein by RAPTA complexes and its E3 ubiquitin ligase activity

Paul Joseph Dyson, Laure Menin, Luc Patiny

RAPTA compounds, ([Ru(eta(6)-arene)(PTA)Cl-2], PTA = 1,3,5-triaza-7-phosphaadamantane), have been reported to overcome drug resistance in cisplatin resistant cells. However, the exact mechanism of these complexes is still largely unexplored. In this study, ...

Elsevier2017

Differential Cytotoxicity, Cellular Uptake, Apoptosis and Inhibition of BRCA1 Expression of BRCA1-Defective and Sporadic Breast Cancer Cells Induced by an Anticancer Ruthenium(II)-Arene Compound, RAPTA-EA1

Paul Joseph Dyson

Background: The RAPTA-EA1 complex [ruthenium(II)-arene 1,3,5-triaza-7-phosphaadamantane (pta) complex with an arene-tethered ethacrynic acid ligand] has been reported to overcome drug resistance that developed due to the current use of platinum-based treat ...

Bentham Science Publ Ltd2017

A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndrome

Johan Auwerx, Laurent Mouchiroud, Richardus Houtkooper

Perrault syndrome (PS) is a rare recessive disorder characterized by ovarian dysgenesis and sensorineural deafness. It is clinically and genetically heterogeneous, and previously mutations have been described in different genes, mostly related to mitochond ...

Oxford Univ Press2017

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

Identifying mutations in Tunisian families with retinal dystrophy

Imen Habibi

Retinal dystrophies (RD) are a rare genetic disorder with high genetic heterogeneity. This study aimed at identifying disease-causing variants in fifteen consanguineous Tunisian families. Full ophthalmic examination was performed. Index patients were subje ...

Nature Publishing Group2016

Echovirus 11 mutants with increased resistance to common water disinfectants

Tamar Kohn, Anna Carratala Ripolles, Virginie Bachmann, Qingxia Zhong

Common water disinfectants like chlorine have been reported to select for resistant viruses. Yet, only little attention has been devoted to characterizing disinfection resistance. The goal of this study was to produce disinfectant-resistant viruses and to ...

2016

Echovirus 11 mutants with increased resistance to common water disinfectants

Tamar Kohn, Anna Carratala Ripolles, Virginie Bachmann, Qingxia Zhong

2016

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 Parkinson's disease gene regulatory network identifies the signaling protein RGS2 as a modulator of LRRK2 activity and neuronal toxicity

Patrick Aebischer, Bernard Schneider, Liliane Glauser, Darren Moore, Klodjan Stafa, Julien Dusonchet

Mutations in LRRK2 are one of the primary genetic causes of Parkinson's disease (PD). LRRK2 contains a kinase and a GTPase domain, and familial PD mutations affect both enzymatic activities. However, the signaling mechanisms regulating LRRK2 and the pathog ...

Oxford University Press2014

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