Ocular axial length influence on peripapillary retinal nerve fiber layer thickness measurement with optical coherence tomography.

Background: Optical coherence tomography (OCT) allows the measurement of the peripapillary optic nerve fiber layer (RNFL) thickness. The effect of ocular axial length (AL) on RNFL thickness measurement may be relevant in the interpretation of OCT results in diagnosing optic nerve diseases.

Purpose: To assess the influence of ocular AL on RNFL thickness and on optic disc topographic parameters (optic disc area, rim area and cup volume) measured by OCT, in healthy individuals.

Disruption of NIPBL/Scc2 in Cornelia de Lange Syndrome provokes cohesin genome-wide redistribution with an impact in the transcriptome.

Cornelia de Lange syndrome (CdLS) is a rare disease affecting multiple organs and systems during development. Mutations in the cohesin loader, NIPBL/Scc2, were first described and are the most frequent in clinically diagnosed CdLS patients. The molecular mechanisms driving CdLS phenotypes are not understood.

SIVA-1 regulates apoptosis and synaptic function by modulating XIAP interaction with the death receptor antagonist FAIM-L.

The long isoform of Fas apoptosis inhibitory molecule (FAIM-L) is a neuron-specific death receptor antagonist that modulates apoptotic cell death and mechanisms of neuronal plasticity. FAIM-L exerts its antiapoptotic action by binding to X-linked inhibitor of apoptosis protein (XIAP), an inhibitor of caspases, which are the main effectors of apoptosis. XIAP levels are regulated by the ubiquitin-proteasome pathway.