BACKGROUND CRB1 mutations are reported as cause of severe congenital and early-onset retinal dystrophies (EORD) with different phenotypic manifestations, including Leber congenital amaurosis (LCA), retinitis pigmentosa (RP) and cone-rod dystrophies. Comprehensive mutational scanning of the whole gene has been only performed in few cohorts, mainly in LCA patients. Here, we aimed investigating th...

BACKGROUND Homology-based taxonomic assignment is impeded by differences between the unassigned read and reference database, forcing a rank-specific classification to the closest (and possibly incorrect) reference lineage. This assignment may be correct only to a general rank (e.g. order) and incorrect below that rank (e.g. family and genus). Algorithms like LCA avoid this by varying the predic...

Background: To identify the pattern of protein expression in the retina from a patient with Leber's Congenital Amaurosis (LCA) secondary to a mutation in the AIPL1 gene. The retina from one eye of a patient with LCA and 7 control eyes were studied. The tissue was subjected to high resolution two-dimensional gel electrophoresis, image analysis and mass spectrometry, in an effort to identify diff...

Life-cycle assessments (LCA) of biodistillate fuels are becoming increasingly important for policy decisions regarding alternative fuels. However, due to the dataintensive and assumptive nature of LCAs, rarely do two different studies produce comparable results. To add to the complexity, effects of indirect land use changes are now being incorporated into LCA models. This development is influen...

The endothelial cytoskeleton plays a key role in arterial responses to acute changes in shear stress. We evaluated whether the intermediate filament protein vimentin is involved in the structural responses of arteries to chronic changes in blood flow (BF). In wild-type mice (V+/+) and in vimentin-deficient mice (V-/-), the left common carotid artery (LCA) was ligated near its bifurcation, and 4...

The eco-design of complex industrial systems becomes a major issue for the concerned companies. Life Cycle Assessment (LCA) in particular is more adapted to “classical” products such as consumer goods. Performing LCA of such systems requires some thoughts to ensure significant results, for example concerning data granularity and quality. This article proposes a Life Cycle Assessment of an Alsto...

To understand the regulation of cell proliferation by tyrosine phosphorylation, characterization of protein tyrosine phosphatases (PTPase; protein-tyrosine-phosphate phosphohydrolase, EC 3.1.3.48) is essential. The human genes LCA (leukocyte common antigen) and LAR encode putative receptor-linked PTPases. By using consensus sequence probes, two additional receptor-linked PTPase genes, DLAR and ...

The most common form of blindness at birth, Leber's congenital amaurosis (LCA), is inherited in an autosomal recessive fashion. Mutations in six different retina-specific genes, including a recently discovered gene, AIPL1, have been linked to LCA in humans. To understand the molecular basis of LCA caused by aryl hydrocarbon receptor-interacting protein-like 1 (AIPL1) mutations, and to elucidate...

Modern technology, together with an advanced economy, can provide a good or service in myriad ways, giving us choices on what to produce and how to produce it. To make those choices more intelligently, society needs to know not only the market price of each alternative, but the associated health and environmental consequences. A fair comparison requires evaluating the consequences across the wh...

We present a very simple algorithm for the Least Common Ancestor problem. We thus dispel the frequently held notion that an optimal LCA computation is unwieldy and unimplementable. Interestingly, this algorithm is a sequentialization of a previously known PRAM algorithm of Berkman, Breslauer, Galil, Schieber, and Vishkin [1].