A novel ITGA2B double cytosine frameshift variant (c.1986_1987insCC) leads to Glanzmann's thrombasthenia in a cat.

Background: Glanzmann's thrombasthenia (GT) is a congenital platelet disorder affecting approximately 1:1 000 000 people globally and characterized by impaired platelet aggregation and clot retraction. Autosomal recessive, loss-of-function, variants in ITGA2B or ITGB3 of the αIIbβ3 receptor cause the disease in humans. A cat affected by Glanzmann's and macrothrombocytopenia was presented to the UC Davis VMTH.

Molecular-Modified Photocathodes for Applications in Artificial Photosynthesis and Solar-to-Fuel Technologies.

Nature offers inspiration for developing technologies that integrate the capture, conversion, and storage of solar energy. In this review article, we highlight principles of natural photosynthesis and artificial photosynthesis, drawing comparisons between solar energy transduction in biology and emerging solar-to-fuel technologies. Key features of the biological approach include use of earth-abundant elements and molecular interfaces for driving photoinduced charge separation reactions that power chemical transformations at global scales.

Photoelectrochemistry of metalloporphyrin-modified GaP semiconductors.

Photoelectrosynthetic materials provide a bioinspired approach for using the power of the sun to produce fuels and other value-added chemical products. However, there remains an incomplete understanding of the operating principles governing their performance and thereby effective methods for their assembly. Herein we report the application of metalloporphyrins, several of which are known to catalyze the hydrogen evolution reaction, in forming surface coatings to assemble hybrid photoelectrosynthetic materials featuring an underlying gallium phosphide (GaP) semiconductor as a light capture and conversion component.

Understanding and Controlling the Performance-Limiting Steps of Catalyst-Modified Semiconductors.

Understanding and controlling factors that restrict the rates of fuel-forming reactions are essential to designing effective catalyst-modified semiconductors for applications in solar-to-fuel technologies. Herein, we describe GaAs semiconductors featuring a polymeric coating that contains cobaloxime-type catalysts for photoelectrochemically powering hydrogen production. The activities of these electrodes (limiting current densities >20 mA cm under 1-sun illumination) enable identification of fundamental performance-limiting bottlenecks encountered at relatively high rates of fuel formation.