Summary: Zebrafish embryos and larvae have greatly contributed to our understanding of human development and disease, but recent advances are now enabling the use of adult zebrafish that have unique advantages for modelling adult disease.
Summary: Transposable elements exert a functional role on hematopoiesis and disease throughout life. Further characterization of these repetitive elements will open new diagnostic and therapeutic avenues.
Summary: Regulatory genomics resources for zebrafish need to be expanded to fulfil this model's potential in exploring the genetics of human disease. Bulk and single-cell genomics resources offer complementary advantages, which are best exploited by improving data integration.
Summary: This Review discusses how to optimise fluorescence imaging for studying the fate and biodistribution of exogenous extracellular vesicles, including fluorescent dyes, methods of labelling, excess dye removal and image acquisition.
Summary: Loop-tail mice develop closed caudal neural tube defects and present cellular aggregates that may facilitate the sealing of these defects, and can thus be used as a model to study these congenital malformations.
A humanized Caenorhabditis elegans model of hereditary spastic paraplegia-associated variants in KLC4
Summary: We identified a variant in KLC4 associated with hereditary spastic paraplegia. The variant had physiological relevance in a humanized C. elegans model in which we replaced klc-2 with human KLC4.
Disrupting Hedgehog signaling in melanocytes by SUFU knockout leads to ocular melanocytosis and anterior segment malformation
Summary: Sufu deletion in the melanocyte lineage selectively interrupts ocular melanocyte development, leading to ocular melanocytosis and malformation of the anterior segment of the eye.
Clonal architecture and evolutionary history of Waldenström's macroglobulinemia at the single-cell level
Summary: Our study shows, for the first time, the clonal architecture of Waldenström's macroglobulinemia at the single-cell level, providing insight into how the oncogenic process can occur.
Summary: Global Slc7a7 deficiency causes postnatal growth failure with low plasma IGF-1 concentrations and delayed skeletal development, but Slc7a7 deficiency in the osteoblastic lineage is not a major contributor to these phenotypes.
Summary: Analyses of CCDC50 mutations in mice and cultured cells suggest that the mechanism of pathogenesis underlying human DFNA44 deafness is likely a dominant-negative or gain-of-function effect.
An interaction between OTULIN and SCRIB uncovers roles for linear ubiquitination in planar cell polarity
Summary: OTULIN interacts with SCRIB, can regulate the association of linear ubiquitin chains with planar cell polarity (PCP) components and, in MDA-MB-231 cells, affects hallmark PCP features, including Wnt5a-induced filopodia extension and VANGL2 trafficking.
CRISPR-based knockout and base editing confirm the role of MYRF in heart development and congenital heart disease
Summary: In vivo modeling revealed that cardiac development crucially depends on the transcription factor MYRF. Changes in single nucleotides in conserved protein domains of MYRF cause severe heart defects.
Summary: Characterization of a novel porcine model of CLN3 Batten disease showing behavioral, pathological and ocular deficits as seen in individuals with CLN3, demonstrating its value in studying this disease and the efficacy of various therapeutics.
Acetaldehyde and defective mismatch repair increase colonic tumours in a Lynch syndrome model with Aldh1b1 inactivation
Editors' choice: Increased acetaldehyde levels are associated with acceleration of defective mismatch repair-driven colonic tumour development in models of Lynch syndrome with inactivated Aldh1b1, involving DNA damage responses and decreased apoptosis.
Summary: Taking advantage of a new nitroreductase with higher activity, we developed transgenic zebrafish lines that can be used to induce chronic hyperglycemia and can be used to model a diabetic state.