Elective genetic and genomic testing

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Publications associées (30)

Label-free detection of hypoxia-induced extracellular vesicle secretion from MCF-7 cells

Philippe Renaud, Tugba Kilic, Sandro Carrara, Ana Teresa De Sousa Valinhas

Nanoscale extracellular vesicles (EVs) including exosomes (50–150 nm membrane particles) have emerged as promising cancer biomarkers due to the carried genetic information about the parental cells. However the sensitive detection of these vesicles remains ...

Nature Research2018

Risk prediction of developing venous thrombosis in combined oral contraceptive users

Emmanuelle Logette, Valérie Buchillier

Background Venous thromboembolism (VTE) is a complex multifactorial disease influenced by genetic and environmental risk factors. An example for the latter is the regular use of combined oral contraceptives (CC), which increases the risk to develop VTE by ...

2017

Genetic and epigenetic inactivation of SESTRIN1 controls mTORC1 and response to EZH2 inhibition in follicular lymphoma

Elisa Oricchio, Natalya Katanayeva, Elena Battistello, Maria Christine Donaldson, Stephanie Jocelyne Sungalee, Giovanni Ciriello

Follicular lymphoma (FL) is an incurable form of B cell lymphoma. Genomic studies have cataloged common genetic lesions in FL such as translocation t(14;18), frequent losses of chromosome 6q, and mutations in epigenetic regulators such as EZH2 Using a focu ...

American Association for the Advancement of Science2017

SQC: Secure Quality Control for Meta-Analysis of Genome-Wide Association Studies

Jean-Pierre Hubaux, Jacques Fellay, Zhicong Huang, Huang Lin

Motivation: Due to the limited power of small-scale genome-wide association studies (GWAS), researchers tend to collaborate and establish a larger consortium in order to perform large-scale GWAS. Genome-wide association meta-analysis (GWAMA) is a statistic ...

Oxford University Press2017

Genomic targets and molecular partners of the chromatin regulator KAP1

Annamaria Kauzlaric

KAP1 is an enigmatic regulatory protein, first described some twenty years ago, shown to be involved in multiple and diverse cellular functions. Specifically, it mediates tasks critical to cell growth and differentiation, pluripotency, apoptosis, gene sile ...

EPFL2017

Control of growth and gut maturation by &ITHoxD&IT genes and the associated lncRNA &ITHaglr&IT

Denis Duboule, Fabrice Daniel Darbellay, Jozsef Zakany, Anamaria Necsulea

During embryonic development, Hox genes participate in the building of a functional digestive system in metazoans, and genetic conditions involving these genes lead to important, sometimes lethal,growth retardation. Recently, this phenotype was obtained af ...

National Academy of Sciences2017

Microfluidic platforms for high-throughput mammalian cell printing, transfection, and dosage-dependent studies

Kristina Pan Woodruff

With the advent of high-throughput and genome-wide screening initiatives, there is a need for improved methods for cell-based assays. Current approaches require expensive equipment, rely on large-scale culturing formats not suited for small or rare sample ...

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

A Microfluidic Platform Enables Large-Scale Single-Cell Screening to Identify Genes Involved in Bacterial Persistence

Amanda Verpoorte

Persistent cells, representing a small fraction of a bacterial population, are refractory to antibiotic therapy. It is a phenotypic transient state. The underlying mechanisms of persistence remain largely unknown, but even divergent hypotheses agree on a f ...

EPFL2017

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

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