Pathogenic DEGS1 variants have been reported in individuals with autosomal recessive hypomyelinating leukodystrophy 18 (HLD18; MIM# 618404). Here we describe three participants with HLD features and a previously unreported homozygous DEGS1 5′ splice site variant, c.825+4_825 + 5delAGinsTT (NM_003676.4). We used next-generation DNA and transcriptome sequencing, cell-based splicing assays, and tandem mass spectrometry to detect...

The sheep lung has long been used to model aspects of the human lung, both its normal development and pathological changes that occur in ovine models of lung disease. The similarities between the two species provide an opportunity to investigate phases of lung development that are not accessible for investigation in humans, for example later in gestation. Here we use single cell (sc) RNA-seq to investigate the developmental dy...

Black Carp Mylopharyngodon piceus are native to most major east Asian drainages and are internationally cultured for use as a food‐fish or a biological control for molluscs. We describe the reproductive biology of Black Carp from the growing invasive population in the Mississippi River basin through examination of incidental commercial fisheries and biologist captures. Our objectives were to assess (1) reproductive development...

We have attempted to re-establish bay scallops to the Virginia, U.S.A. coastal bays and document the dynamics of the restoration effort. Bay scallops ( Argopecten irradians ) once flourished in the eelgrass ( Zostera marina ) of the Virginia coastal bays. Eelgrass wasting disease led to declines, and both eelgrass and scallops were completely lost after a 1933 hurricane. The Virginia Institute of Marine Science (VIMS) led a su...

Decommissioning of offshore oil and gas infrastructure, including thousands of platform jackets and associated structures approaching the end of their operational lives, is a major contemporary challenge. Yet, decision-making remains constrained by fragmented, highly heterogeneous, and episodic monitoring that rarely quantifies ecosystem function or connectivity. There is a long-standing debate over removal versus habitat rete...

Background and aims The absence of a suberised exodermis in Banksia (Proteaceae) roots enables rapid carboxylate release for phosphorus mobilisation but also increases their susceptibility to soil pathogens. Recently, evidence of arbuscular mycorrhizal (AM) colonisation in Banksia species from high-rainfall regions prompted a reassessment of the association between Banksia species and AM fungi. Methods We collected root and so...