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Summary: This Perspective discusses the special features that make it challenging to develop new therapies for pediatric cancers, and the ways in which collaboration centered on improved models can meet these challenges.


Summary: Current animal models of bronchopulmonary dysplasia suffer from a lack of standardization, which hampers the translational relevancy of findings. Here the current state of available models is reviewed, offering recommendations for improvement.

Summary: In this Review, we discuss the in vivo and in vitro models available to study AIRE deficiency, and how they may contribute to restoring immunological tolerance in APECED patients.


Summary: Analysis of the L1519P mutation in NOTCH3 and the relationship between Notch and PDGF signaling in infantile myofibromatosis revealed that NOTCH3L1519P generates hyperactivated, ligand-independent Notch signaling, which acts epistatically over PDGF signaling.

Summary: This study deals with pathomechanisms underlying riboflavin transporter deficiency, a rare recessively inherited early-onset neurodegenerative condition. Using patient-derived iPSCs, we report on cytoskeletal abnormalities, which are reverted by combined riboflavin/antioxidant treatment.

Summary: We characterized the cardiovascular abnormalities of Dmdmdx rats, demonstrating that Dmdmdx rats show similar cardiac and vascular endothelial function impairments to Duchenne muscular dystrophy patients, representing a model of the dystrophic heart.

Summary: We observed that Lmx1b mutant mice of different strain backgrounds vary in onset and severity of glaucoma-related phenotypes and identified a modifier locus on Chr 18. These results could increase understanding of the mechanisms underlying glaucoma.

Editor’s choice: Brief exposure of the mouse testis to a muscle growth-promoting molecule initiates a cascade of molecular changes that expands over time, even when the treatment has stopped.

Summary: Only 36 C9ORF72 repeats are sufficient for RAN translation in a new mouse model for amyotrophic lateral sclerosis and frontotemporal dementia. Reducing toxic dipeptides can prevent but not reverse the phenotype.

Summary: Our study describes mice carrying knockout alleles of microRNAs involved in hearing and suggests that a point mutation in a microRNA can have a greater phenotypic impact than a null allele.

Summary: Establishment of four patient-derived models of RET fusion-positive lung adenocarcinomas with three different RET fusions shows that MYC expression is regulated by RET.

Summary: Using morphometric, respiratory function and metabolomics analyses, we demonstrate that the Bmp7 neural crest knockout mouse is a model for nasal airway obstruction with a craniofacial origin, allowing the study of disordered breathing.

Summary: We examined the cellular effects of mislocalization of TDP-43, a key pathological protein in amyotrophic lateral sclerosis and frontotemporal dementia, using the eye as a model and demonstrated axonal cytoskeleton alterations.

Summary: Genetic and molecular analyses of mutant mouse embryos reveal a HH-Foxf1-Rspo2 signaling axis that informs the mechanistic basis of tracheomalacia in individuals with Hedgehog pathway mutations.


Summary: Analysis of a large library of mouse embryonic stem cell lines with gene trap insertions revealed mutations in 2202 unique non-coding RNA genes, which will significantly contribute to the functional annotation of non-coding RNA genes.


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