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Phenotypic and biochemical categorization of humans with detrimental variants can provide valuable information on gene function. We illustrate this with the identification of two different homozygous variants resulting in enzymatic loss-of-function in LDHD, encoding lactate dehydrogenase D, in two unrelated patients with elevated D-lactate urinary excretion and plasma concentrations. We establish
Background: Pressure overload of the heart occurs in patients with hypertension or valvular stenosis and induces cardiac fibrosis because of excessive production of extracellular matrix by activated cardiac fibroblasts. This initially provides essential mechanical support to the heart, but eventually compromises function. Osteopontin is associated with fibrosis; however, the underlying signaling m
A main objective of the research is to develop an educational math game based on the pedagogies of learning by teaching (Bargh & Schul, 1980) , peer coaching and social role models (Bandura1986, 2000; Schunk, 1987) while exploiting a tight interrelation of task oriented and socially oriented conversation. Another objective is to use the game to explore the mentioned pedagogical topics via desi
Today our economy is largely based on linear material flows, and many products, such as electronics, furniture,building materials and textiles, are discarded even when they could still be used. Without urgent action, globalwaste is expected to increase by 70% by 2060 and global materials use is expected to more than double. We arestarting to realise that linear material flows are not only a loss o
Expert advice is often biased in ways that benefit the advisor. We demonstrate how self-deception helps advisors be biased while preserving their self-image as ethical and identify limits to advisors' ability to self-deceive. In experiments where advisors recommend one of two investments to a client and receive a commission that depends on their recommendation, we vary the timing at which advisors
