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Summary: This Clinical Puzzle summarizes the pathophysiology, clinical presentation and treatment option of three disorders of amino acid metabolism, namely, phenylketonuria, lysinuric protein intolerance and homocystinuria due to cystathionine β-synthase deficiency.
Summary: This Review examines the function of SLC family membrane transporters in physiology and disease, with a focus on cancer metabolism and how this intersects with their role in drug uptake.
Pax3 lineage-specific deletion of Gpr161 is associated with spinal neural tube and craniofacial malformations during embryonic development
Summary: Using Gpr161 conditional knockout mice with Pax3-Cre as a model for closed spina bifida, this study highlights the involvement of Gpr161, Pax3 and Wnt/β-catenin signaling in spinal neural tube development.
Altered binding affinity of SIX1-Q177R correlates with enhanced WNT5A and WNT pathway effector expression in Wilms tumor
Summary: By using novel methods to compare Wilms tumor genomic datasets and in vitro assays, we identified aberrant gene expression programs linked to enhanced DNA-binding affinity that result from the relapse-associated Q177R mutation in SIX1 and SIX2.
Summary: Depending upon genetic context and age, loss of the repair enzyme lysyl oxidase-like 1 in mice places tissues subject to repetitive cycles of mechanical stress at risk for elastosis.
High-fat diet induces C-reactive protein secretion, promoting lung adenocarcinoma via immune microenvironment modulation
Summary: High-fat diet can elevate C-reactive protein to promote immune microenvironment modulation and tumor progression in mice with EGFR-driven lung cancer.
Editor's choice: A mouse model that reveals the process of basal-like breast cancer initiated from sporadic Brca1, p53-deficient cells enables spatially resolved analysis of the pre-malignant progression of mutant cells.
A Drosophila model targets Eiger/TNFα to alleviate obesity-related insulin resistance and macrophage infiltration
Summary: This study presents a new Drosophila model to explore obesity-related concerns such as insulin resistance and adipose tissue inflammation, which are ameliorated by reducing Eiger/TNFα signaling.
Summary: We generated a human cone photoreceptor fluorescent reporter line and retinal organoids, and captured individual cone maturation through episodic live imaging, demonstrating the utility of the organoids as cone development and disease models.
Pluripotent stem cell-derived neural progenitor cells can be used to model effects of IL-6 on human neurodevelopment
Summary: We characterize how two distinct two-dimensional neural progenitor cell cultures respond to treatment with the cytokine interleukin-6 to model the effects of maternal immune activation on human neurodevelopment.
Summary: This paper details methodology to successfully modify floxed alleles in ex vivo adult tissue slices using soluble Cre, bypassing the need for Cre-Lox breeding in live animals.