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Related publications (26)

VAX1 Mutation Associated with Microphthalmia, Corpus Callosum Agenesis, and Orofacial Clefting: The First Description of a VAX1 Phenotype in Humans

Vax1 and Vax2 have been implicated in eye development and the closure of the choroid fissure in mice and zebrafish. We sequenced the coding exons of VAX1 and VAX2 in 70 patients with anophthalmia/microphthalmia (A/M). In VAX1, we observed homozygosity for ...

2012

Protein Domain Prediction and Alternative Splicing Histories : a Modular View

Yann Christinat

Modularity is at the core of bioinformatics. Here we focused on two different building blocks: protein domains and exons. While protein domains enable us to study the protein‚s functions, exons allow us to understand the evolution of the former. However, a ...

EPFL2012

Mammalian genes are transcribed with widely different bursting kinetics

Felix Naef, David Michael Suter

In prokaryotes and eukaryotes, most genes appear to be transcribed during short periods called transcriptional bursts, interspersed by silent intervals. We describe how such bursts generate gene-specific temporal patterns of messenger RNA (mRNA) synthesis ...

American Association for the Advancement of Science2011

Epigenetic Modification of the FMR1 Gene in Fragile X Syndrome Is Associated with Differential Response to the mGluR5 Antagonist AFQ056

Nouchine Hadjikhani, Fei Chen

Fragile X syndrome (FXS) is an X-linked condition associated with intellectual disability and behavioral problems. It is caused by expansion of a CGG repeat in the 5' untranslated region of the fragile X mental retardation 1 (FMR1) gene. This mutation is a ...

2011

Unique Cell-Type-Specific Distributions and Functions of Brain MicroRNAs

Ana Jovicic

MicroRNAs (miRNAs) are small non-coding RNAs involved in post-transcriptional regulation of gene expression. The first miRNA was discovered less than 20 years ago in the context of studying Caenorabditis elegans development. The discovery of the second miR ...

EPFL2011

Alterations of the 5 ' Untranslated Region of SLC16A12 Lead to Age-Related Cataract

PURPOSE. Knowledge of genetic factors predisposing to age-related cataract is very limited. The aim of this study was to identify DNA sequences that either lead to or predispose for this disease. ...

2010

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