Inherited bone marrow failure with macrothrombocytopenia due to germline tubulin beta class I (TUBB) variant.

Germline mutations in tubulin beta class I (TUBB), which encodes one of the β-tubulin isoforms, were previously associated with neurological and cutaneous abnormalities. Here, we describe the first case of inherited bone marrow (BM) failure, including marked thrombocytopenia, morphological abnormalities, and cortical dysplasia, associated with a de novo p.D249V variant in TUBB.

Physics-guided probabilistic modeling of extreme precipitation under climate change.

Earth System Models (ESMs) are the state of the art for projecting the effects of climate change. However, longstanding uncertainties in their ability to simulate regional and local precipitation extremes and related processes inhibit decision making. Existing state-of-the art approaches for uncertainty quantification use Bayesian methods to weight ESMs based on a balance of historical skills and future consensus.

Carbon innumeracy.

Individuals must have a quantitative understanding of the carbon footprint tied to their everyday decisions to make efficient sustainable decisions. We report research of the innumeracy of individuals as it relates to their carbon footprint. In three studies that varied in terms of scale and sample, respondents estimate the quantity of CO2 released when combusting a gallon of gasoline in comparison to several well-known metrics including food calories and travel distance.

Reciprocal regulation of eNOS and caveolin-1 functions in endothelial cells.

We hypothesized that the maintenance of vascular homeostasis is critically dependent on the expression and reciprocal regulation of caveolin-1 (Cav-1) and endothelial nitric oxide synthase (eNOS) in endothelial cells (ECs). Skeletal muscle biopsies from subjects with type 2 diabetes showed 50% less Cav-1 and eNOS than those from lean healthy controls. The Cav-1:eNOS expression ratio was 200:1 in primary culture human ECs.