Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder.

Purpose: The TAOK proteins are a group of serine/threonine-protein kinases involved in signalling pathways, cytoskeleton regulation, and neuronal development. TAOK1 variants are associated with a neurodevelopmental disorder (NDD) characterized by distinctive facial features, hypotonia and feeding difficulties. TAOK2 variants have been reported to be associated with autism and early-onset obesity.

Extramedullary disease in Waldenström macroglobulinemia: A population-based observational study.

Introduction: Extramedullary disease (EMD) is a rare manifestation of Waldenström macroglobulinemia (WM), and its clinical and prognostic implications are poorly understood.

Methods: In this single-center study, we investigated the clinical significance of EMD in a cohort of 469 WM patients.

Results: EMD was identified in 30 (6.

Field data on sea ice restoration by artificial flooding.

A field campaign in the Vallunden lagoon in the Van Mijenfjorden on Spitsbergen was conducted to gather data on sea ice restoration by artificial flooding. Sea ice thickening was initiated by pumping sea water from below the first-year sea ice onto the surface without removing the covering snow layer. Part of the data was collected by four thermistor strings, two radiation sensors, and one anemometer.

Polyploidy linked with species richness but not diversification rates or niche breadth in Australian Pomaderreae (Rhamnaceae).

Background And Aims: Polyploidy is an important evolutionary driver for plants and has been linked with higher species richness and increases in diversification rate. These correlations of ploidy with plant radiations could be the result of polyploid lineages exploiting greater niche space and novel niches due to their enhanced adaptability. Ploidy evolution and how it links with diversification of plants across the Australian continent is not well understood.