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Publications associées (30)

Identifying mutations in Tunisian families with retinal dystrophy

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

The Characteristics of Heterozygous Protein Truncating Variants in the Human Genome

Jacques Fellay, Amalio Telenti, Istvan Bartha, Nimisha Chaturvedi

Sequencing projects have identified large numbers of rare stop-gain and frameshift variants in the human genome. As most of these are observed in the heterozygous state, they test a gene's tolerance to haploinsufficiency and dominant loss of function. We a ...

Public Library Science2015

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

Phenotypic heterogeneity in metabolic traits among single cells of a rare bacterial species in its natural environment quantified with a combination of flow cell sorting and NanoSIMS

Anders Meibom, Stéphane Laurent Escrig, Martin Ackermann

Populations of genetically identical microorganisms residing in the same environment can display marked variability in their phenotypic traits; this phenomenon is termed phenotypic heterogeneity. The relevance of such heterogeneity in natural habitats is u ...

Frontiers Research Foundation2015

Epigenetic Alterations in Alzheimer's Disease

Johannes Gräff, Jose Vicente Sanchez Mut

Alzheimer's disease (AD) is the major cause of dementia in Western societies. It progresses asymptomatically during decades before being belatedly diagnosed when therapeutic strategies have become unviable. Although several genetic alterations have been as ...

Frontiers Research Foundation2015

Merging microfluidics and micro-array concepts: from molecular to nematode-based bioassays

Matteo Cornaglia

Essential in biomedical research is the necessity of gathering statistically relevant data about large populations of specific biological entities, e.g. organisms, cells or molecules, while preserving detailed information about each single entity under in ...

EPFL2015

Effects of ploidy and sex-locus genotype on gene expression patterns in the fire ant Solenopsis invicta

Chitsanu Khurewathanakul, Oksana Riba Grognuz, Laurent Keller

Males in many animal species differ greatly from females in morphology, physiology and behaviour. Ants, bees and wasps have a haplodiploid mechanism of sex determination whereby unfertilized eggs become males while fertilized eggs become females. However, ...

Royal Soc2014

GuavaH: a compendium of host genomic data in HIV biology and disease

Jacques Fellay, Amalio Telenti, Istvan Bartha

Background: There is an ever-increasing volume of data on host genes that are modulated during HIV infection, influence disease susceptibility or carry genetic variants that impact HIV infection. We created GuavaH (Genomic Utility for Association and Viral ...

BioMed Central2014

Use of Qualitative Environmental and Phenotypic Variables in the Context of Allele Distribution Models: Detecting Signatures of Selection in the Genome of Lake Victoria Cichlids

Stéphane Joost, Michaël Kalbermatten

When searching for loci possibly under selection in the genome, an alternative to population genetics theoretical models is to establish allele distribution models (ADM) for each locus to directly correlate allelic frequencies and environmental variables s ...

Humana Press2012

Endothelial deletion of murine Jag1 leads to valve calcification and congenital heart defects associated with Alagille syndrome

Freddy Radtke

The Notch signaling pathway is an important contributor to the development and homeostasis of the cardiovascular system. Not surprisingly, mutations in Notch receptors and ligands have been linked to a variety of hereditary diseases that impact both the he ...

Company of Biologists2012

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