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...

An association of Blue runner, Caranx crysos (Carangidae), with two species of rays, Common stingray Dasyatis pastinaca (Dasyatidae) and Bull ray Aetomylaeus bovinus (Myliobatidae), in which an individual C. crysos (the follower fish) follows a foraging ray (the nuclear species), is described, based on a sample of 61 video clips. Follower fish show three types of behaviour: swimming under the pectoral fin of the nuclear ray, s...

Unlike mammals, teleost fish exhibit lifelong skeletal muscle growth, characterized by continued fiber hypertrophy and the formation of new muscle fibers maintained by a persistent progenitor cell population. However, the limited availability of stable muscle progenitor cell lines from commercially important species such as Atlantic salmon ( Salmo salar ) constrains mechanistic studies and emerging applications in cellular aqu...

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...

Quantitative measurement of macroalgal thallus morphology and its link with epifaunal communities remains largely unexplored in the central Mediterranean. This paper explores the link between thallus morphology and the associated mobile epifaunal assemblages of three common macroalgae native to the Maltese Islands (central Mediterranean Sea): Ellisolandia elongata, Jania rubens, and Dictyota spp. (D. dichotoma, D. mediterranea...