Publications associées à Compositions and methods for delivering nucleic acids to cochlear and vestibular cells

Publications associées (15)

Engineering of chitosan-based derivatives for non-viral gene delivery

Gene therapy offers the possibility to treat or even cure diseases originating from genetic defects by introducing a therapeutic gene in target cells or correcting the initial defective gene. Amongst different options, non-viral vectors rely on the deliver ...

EPFL2022

Comprehensive analysis of PM20D1 QTL in Alzheimer's disease

Johannes Gräff, Jose Vicente Sanchez Mut, Liliane Glauser

Background Alzheimer's disease (AD) is a complex disorder caused by a combination of genetic and non-genetic risk factors. In addition, an increasing evidence suggests that epigenetic mechanisms also accompany AD. Genetic and epigenetic factors are not ind ...

2020

Efficient viral transduction in mouse inner ear hair cells with utricle injection and AAV9-PHP.B

Bernard Schneider, Paola Andrea Solanes Vega

Viral delivery of exogenous coding sequences into the inner ear has the potential for therapeutic benefit for patients suffering genetic or acquired hearing loss. To devise improved strategies for viral delivery, we investigated two injection techniques, r ...

2020

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

Neonatal Group B Streptococcal Disease in Otherwise Healthy Infants: Failure of Specific Neonatal Immune Responses

Jacques Fellay, Alessandro Borghesi

Only a small proportion of newborn infants exposed to a pathogenic microorganism develop overt infection. Susceptibility to infection in preterm infants and infants with known comorbidities has a likely multifactorial origin and can be often attributed to ...

Frontiers Media Sa2017

Input-dependent regulation of excitability controls dendritic maturation in somatosensory thalamocortical neurons

Johannes Gräff, Jose Vicente Sanchez Mut

Input from the sensory organs is required to pattern neurons into topographical maps during development. Dendritic complexity critically determines this patterning process; yet, how signals from the periphery act to control dendritic maturation is unclear. ...

Nature Research2017

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

Denis Duboule, Fabrice Daniel Darbellay, 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

Dual optical control and mechanistic insights into photoswitchable group II and III metabotropic glutamate receptors

Johannes Broichhagen

G protein-coupled receptor (GPCR) signaling occurs in complex spatiotemporal patterns that are difficult to probe using standard pharmacological and genetic approaches. A powerful approach for dissecting GPCRs is to use light-controlled pharmacological age ...

National Academy of Sciences2017

Abrogation of HMX1 Function Causes Rare Oculoauricular Syndrome Associated With Congenital Cataract, Anterior Segment Dysgenesis, and Retinal Dystrophy

PURPOSE. To define the phenotypic manifestation, confirm the genetic basis, and delineate the pathogenic mechanisms underlying an oculoauricular syndrome (OAS). METHODS. Two individuals from a consanguineous family underwent comprehensive clinical phenotyp ...

Assoc Research Vision Ophthalmology Inc2015

A Systems Approach to Identify Genetic and Environmental Regulators of Metabolism

Evan Graehl Williams

For more than a century, it has been recognized that our genetic inheritance and our environment interact to shape who we are and how we act (nature vs. nurture ), and the study of genetics has allowed us to explain why traits can vary dramatically betwee ...

EPFL2014

SAS-1 Is a C2 Domain Protein Critical for Centriole Integrity in C. elegans

Graham Knott, Pierre Gönczy, Simon Blanchoud, Lukas von Tobel, Tamara Mikeladze-Dvali

Centrioles are microtubule-based organelles important for the formation of cilia, flagella and centrosomes. Despite progress in understanding the underlying assembly mechanisms, how centriole integrity is ensured is incompletely understood, including in sp ...

Public Library of Science2014

Dental Phenotype in Jalili Syndrome Due to a c.1312 dupC Homozygous Mutation in the CNNM4 Gene

Jalili syndrome denotes a recessively inherited combination of an eye disease (cone-rod dystrophy) and a dental disorder (amelogenesis imperfecta), which is caused by mutations in the CNNM4 gene. Whereas the ophthalmic consequences of these mutations have ...

Public Library of Science2013

Congenital heart disease affects local gyrification in 22q11.2 deletion syndrome

Jean-Philippe Thiran, Meritxell Bach Cuadra, Marie Schaer

22q11.2 deletion syndrome (22q11.2DS) is a common genetic condition associated with cognitive and learning impairments. In this study, we applied a threedimensional method for quantifying gyrification at thousands of points over the cortical surface to ima ...

Wiley-Blackwell2009

Characterization of mouse Dactylaplasia mutations: a model for human ectrodactyly SHFM3

Denis Duboule, Marc Samuel Friedli

SHFM3 is a limb malformation characterized by the absence of central digits. It has been shown that this condition is associated with tandem duplications of about 500 kb at 10q24. The Dactylaplasia mice display equivalent limb defects and the two correspon ...

2008

From genes to brain: understanding brain development in neurogenetic disorders using neuroimaging techniques

Marie Schaer

Since almost two decades, a considerable amount of work has been devoted to the accurate delineation of normal and abnormal brain development, using cerebral MRI. In the broad field of neuroimaging research, specific genetic conditions associated with impa ...

2007