In vivo dissection of the mouse tyrosine catabolic pathway with CRISPR-Cas9 identifies modifier genes affecting hereditary tyrosinemia type 1.

Hereditary tyrosinemia type 1 is an autosomal recessive disorder caused by mutations (pathogenic variants) in fumarylacetoacetate hydrolase, an enzyme involved in tyrosine degradation. Its loss results in the accumulation of toxic metabolites that mainly affect the liver and kidneys and can lead to severe liver disease and liver cancer. Tyrosinemia type 1 has a global prevalence of approximately 1 in 100,000 births but can reach up to 1 in 1,500 births in some regions of Québec, Canada.

Beneficial effects of miR-132/212 deficiency in the zQ175 mouse model of Huntington's disease.

Huntington's disease (HD) is a rare genetic neurodegenerative disorder caused by an expansion of CAG repeats in the Huntingtin (HTT) gene. One hypothesis suggests that the mutant HTT gene contributes to HD neuropathology through transcriptional dysregulation involving microRNAs (miRNAs). In particular, the miR-132/212 cluster is strongly diminished in the HD brain.

Thermodynamic circuits: Association of devices in stationary nonequilibrium.

For a circuit made of thermodynamic devices in stationary nonequilibrium, we determine the mean currents (of energy, matter, charge, etc.) exchanged with external reservoirs driving the circuit out of equilibrium. Starting from the conductance matrix describing the nonlinear current-force characteristics of each device, we obtain the conductance matrix of the composite device.

Macroeconomic dynamics in a finite world based on thermodynamic potential.

This paper presents a conceptual model describing the medium and long term co-evolution of natural and socio-economic subsystems of Earth. An economy is viewed as an out-of-equilibrium dissipative structure that can only be maintained with a flow of energy and matter. The distinctive approach emphasized here consists in capturing the economic impact of natural ecosystems' depletion by human activities via a pinch of thermodynamic potentials.

Revisiting Nature's "Unifying Patterns": A Biological Appraisal.

Effective bioinspiration requires dialogue between designers and biologists, and this dialogue must be rooted in a shared scientific understanding of living systems. To support learning from "nature's overarching design lessons" the Biomimicry Institute has produced ten "Unifying Patterns of Nature". These patterns have been developed to engage with those interested in finding biologically inspired solutions to human challenges.