Issues

Summary: This Editorial discusses in silico tools for predicting missense variant pathogenicity, with a focus on AlphaMissense, highlighting their strengths, limitations and challenges in unbiased performance benchmarking.

Summary: This study reports the behavioral phenotypes of two Duchenne muscular dystrophy mouse models lacking one or several dystrophin isoforms, highlighting the main outcome measures and their reproducibility in distinct laboratories.

Summary: Mutations in the VCP gene cause frontotemporal lobar degeneration. Our data from a Drosophila model including genetic rescue experiments revealed that loss-of-function of VCP/TER94 causes neurodegeneration.

Summary: Exploring the tumour microenvironment in cholangiocarcinoma enables key pathways to be restored in pre-clinical models, enhancing their accuracy and application in understanding of cancer progression.

Summary: Slc26a2-mediated sulfate metabolism plays a critical role in tooth development, with deficiencies leading to disrupted odontoblast differentiation and downregulation of Wnt signaling.

Summary: This study describes a novel in vivo zebrafish model of neural Fyn kinase activation and identifies Stat3 signaling as a downstream Fyn effector in dopaminergic neuron degeneration and neuroinflammation.

Editor's choice: Zebrafish nf2a/b genes are expressed in tissues involved in neurofibromatosis type II (NF-2). Inducible knockout of nf2a/b triggers the development of a spectrum of tumors, mirroring the manifestations observed in patients with NF-2.

Summary: This study finds a pro-oncogenic role for FOXO6, downstream of glioblastoma-associated elevated FOXG1, in controlling quiescence exit of mouse neural stem cells.