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A MODEL FOR LIFE

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REVIEWS

Summary: Dystroglycan is a ubiquitous matrix receptor linked to brain and muscle disease. Unraveling the functions of this protein will inform basic and translational research on neural development and muscular dystrophies.

Summary: The nervous system's exposure to hypoxia has developmental and clinical relevance. In this Review, the authors discuss the effects of hypoxia on the development of the CNS, and its long-term behavioral and neurodevelopmental consequences.

RESEARCH ARTICLES

Summary: A forward genetic approach identified genes involved in maintaining normal body weight. A mutation in Arnt2 caused obesity by regulating food intake.

Summary: Dietary AGEs lead to sex-specific intervertebral disc structural and functional changes and may be targeted for promoting spinal health, especially in diabetes, in which AGEs form rapidly.

Summary: Here, we show that partial loss-of-function mutations in the Idh3a gene lead to retinal degeneration due to compromised mitochondrial function. Complete loss of Idh3a, however, is embryonically lethal.

Summary: Using a mouse model of precursor B-cell leukemia, we have investigated influencing factors on leukemia genesis, including genetic background, cell of origin and deletion efficiency.

Summary: Tetanus-toxin-induced occipital cortical epilepsy is a rodent model of acquired focal neocortical epilepsy well-suited for preclinical evaluation of novel anti-epileptic strategies.

Summary: Collagen COL22A1 is expressed in perivascular fibroblast-like cells and is required to maintain vascular stability in a zebrafish model. Mutations in COL22A1 are likely to be associated with intracranial aneurysms.

Editor's choice: Dystrophin-deficient Caenorhabditiselegans have measurably weak muscle strength and mitochondrial dysfunction, and they respond to drug treatments standard in treating human Duchenne muscular dystrophy.

Summary: Zebrafish embryonic macrophages associate with the distal tips of tumour xenograft blood vessels and are required for Vegfa-driven angiogenesis.

Summary: Sugar and other food additives can inhibit gut barrier function in both human cell co-cultures and Drosophila melanogaster.

RESOURCE ARTICLES

Summary: The mouse models described in this paper provide critical tools to better understand the underlying pathogenesis of prediabetic and diabetic neuropathy from youth to adulthood.

Summary: Here, we used computer-based machine learning methodology to predict which genes in the mouse genome are essential for development, and present a database of mouse essential and non-essential genes.

Summary: A novel method for isolating and expanding primary neural crest cells, and establishment of reproducible temporal benchmarks of differentiation, provides a potential screening platform for developmental toxicity or therapeutic capacity.

Summary: Here, we provide a CRISPR-Cas9 human gene replacement and phenomic characterization strategy to directly replace Caenorhabditis elegans genes with their human orthologs for disease variant modeling and therapeutic screening.

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