The Upper Cretaceous geodynamic evolution of the Adriatic-Dinaric carbonate platform(s)

Jelaska Vladimir, Gusic Ivan, Jurkovšek Bogdan, Ogorelec Bojan, Cosovic V., Sribar L., Toman M. The Upper Cretaceous geodynamic evolution of the Adriatic-Dinaric carbonate platform(s). In: Géologie Méditerranéenne. Tome 21, numéro 3-4, 1994. Perimediterranean carbonate platforms. First International Meeting. Marseille – France (5-8 septembre 1994) sous la direction de Jean-Pierre Masse. pp. 89-91

The Upper Cretaceous geodynamic evolution of the Adriatic-Dinaric carbonate platform(s)

Jelaska Vladimir, Gusic Ivan, Jurkovšek Bogdan, Ogorelec Bojan, Cosovic V., Sribar L., Toman M. The Upper Cretaceous geodynamic evolution of the Adriatic-Dinaric carbonate platform(s). In: Géologie Méditerranéenne. Tome 21, numéro 3-4, 1994. Perimediterranean carbonate platforms. First International Meeting. Marseille – France (5-8 septembre 1994) sous la direction de Jean-Pierre Masse. pp. 89-91

Detection of aberrant gene expression events in RNA sequencing data.

RNA sequencing (RNA-seq) has emerged as a powerful approach to discover disease-causing gene regulatory defects in individuals affected by genetically undiagnosed rare disorders. Pioneering studies have shown that RNA-seq could increase the diagnosis rates over DNA sequencing alone by 8-36%, depending on the disease entity and tissue probed. To accelerate adoption of RNA-seq by human genetics centers, detailed analysis protocols are now needed. We present a step-by-step protocol that details how to robustly detect aberrant expression levels, aberrant splicing and mono-allelic expression in RNA-seq data using dedicated statistical methods. We describe how to generate and assess quality control plots and interpret the analysis results. The protocol is based on the detection of RNA outliers pipeline (DROP), a modular computational workflow that integrates all the analysis steps, can leverage parallel computing infrastructures and generates browsable web page reports

Effects of Shear Forces and Pressure on Blood Vessel Function and Metabolism in a Perfusion Bioreactor.

Bovine saphenous veins (BSV) were incubated in a perfusion bioreactor to study vessel wall metabolism and wall structure under tissue engineering conditions. Group 1 vessels were perfused for 4 or 8 days. The viscosity of the medium was increased to that of blood in group 2. Group 3 vessels were additionally strained with luminal pressure. Groups 1-d through 3-d were similar except that BSV were endothelium-denuded before perfusion. Groups 1-a through 3-a used native vessels at elevated flow rates. Group 3 vessels responded significantly better to noradrenaline on day 4, whereas denuded vessels showed attenuated responses (p < 0.001). Tetrazolium dye reduction did not depend on perfusion conditions or time except for denuded vessels. pO(2) gradients across the vessels were independent of time and significantly higher in group 2 (p < 0.001). BSV converted glucose stoichiometrically to lactate except vessels of groups 3, 1-d, and 3-d which released more lactate than glucose could supply (p < 0.001). Group 1 vessels as well as all vessels perfused with elevated flow rates showed a loss of endothelial cells after 4 days, whereas group 2 and 3 vessels retained most of the endothelium. These data suggest that vessel metabolism was not limited by oxygen supply. Shear forces did not affect glucose metabolism but increased oxygen consumption and endothelial cell survival. Luminal pressure caused the utilization of energy sources other than glucose, as long as the endothelium was intact. Therefore, vessel metabolism needs to be monitored during tissue engineering procedures which challenge the constructs with mechanical stimuli

Homozygous loss-of-function variants of <em>TASP1</em>, a gene encoding an activator of the histone methyltransferases KMT2A and KMT2D, cause a syndrome of developmental delay, happy demeanor, distinctive facial features, and congenital anomalies.

We report four unrelated children with homozygous loss-of-function variants in TASP1 and an overlapping phenotype comprising developmental delay with hypotonia and microcephaly, feeding difficulties with failure-to-thrive, recurrent respiratory infections, cardiovascular malformations, cryptorchidism, happy demeanor, and distinctive facial features. Two children had a homozygous founder deletion encompassing exons 5–11 of TASP1, the third had a homozygous missense variant, c.701 C&gt;T (p.Thr234Met), affecting the active site of the encoded enzyme, and the fourth had a homozygous nonsense variant, c.199 C&gt;T (p.Arg67*). TASP1 encodes taspase 1 (TASP1), which is responsible for cleaving, thus activating, the lysine methyltransferases KMT2A and KMT2D, which are essential for histone methylation and transcription regulation. The consistency of the phenotype, the critical biological function of TASP1, the deleterious nature of the TASP1 variants, and the overlapping features with Wiedemann–Steiner and Kabuki syndromes respectively caused by pathogenic variants in KMT2A and KMT2D all support that TASP1 is a disease-related gene