Summary: The International Day of Women and Girls in Science is a celebration of the achievements of female scientists, and a call to action for a culture shift in science.
Summary: Exploring genomics in sickle cell disease could identify new therapeutic targets, and will further our understanding of genetic risk and treatment of associated cardiovascular complications, such as stroke or kidney disease.
Summary: CRISPR/Cas technology can effectively disrupt gene function by generating insertions and deletions, but precise gene editing remains challenging. Here, we discuss recent advances in this field.
Summary: We review mouse models of fragile X-related disorders and discuss their advantages, limitations and use as preclinical models, as well as assess the challenges that remain to improve the reproducibility and translational value of these models.
Activation of an actin signaling pathway in pre-malignant mammary epithelial cells by P-cadherin is essential for transformation
Summary: We provide evidence that a transient boost of actin–MRTF-A–SRF signaling activity by the cell–cell adhesion molecule P-cadherin could play a major role in pre-malignant disease development and progression.
Summary: Overproliferation of pre-chondrogenic cells carrying a somatic oncogenic mutation in AKT1 or PIK3CA cause a heterochronic shift in long bone formation and skeletal gigantism.
Magel2 truncation alters select behavioral and physiological outcomes in a rat model of Schaaf-Yang syndrome
Summary: The molecular, neurobehavioral and organ system characterization of a rat model of Schaaf-Yang syndrome provides insight into the consequences of a truncating mutation in the imprinted gene Magel2.
Low HER2 expression in normal breast epithelium enables dedifferentiation and malignant transformation via chromatin opening
Summary: Low HER2 expression promotes in vitro transformation in a 3D breast cancer model through widespread increase in chromatin accessibility and the acquisition of stem-like phenotype.
Patient-specific variants of NFU1/NFU-1 disrupt cholinergic signaling in a model of multiple mitochondrial dysfunctions syndrome 1
Summary: Patient-specific variants in NFU1/NFU-1 affect motility and movement in C. elegans due to aberrant cholinergic signaling, but variants have different effects on presynaptic and postsynaptic function.
Summary: Loss of Shp1 in zebrafish impairs neutrophil and macrophage function and results in severe inflammation and lethality during the larval stage.
A novel class of sulphonamides potently block malaria transmission by targeting a Plasmodium vacuole membrane protein
Editor's choice: A new class of antimalarials based on a N-[(4-hydroxychroman-4-yl)methyl]-sulphonamide scaffold potently prevents malaria parasite transmission to the mosquito by targeting the Plasmodium falciparum vacuole membrane protein Pfs16.