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Correction: Genetic dissection of Down syndrome-associated congenital heart defects using a new mouse mapping panel
Eva Lana-Elola et al.
Dysregulated Dscam levels act through Abelson tyrosine kinase to enlarge presynaptic arbors
Gabriella R Sterne et al.
Targeting Abelson kinase can be beneficial for treating disorders characterized by dysregulated Down Syndrome Cell Adhesion Molecule signaling.
Stem Cells and Regenerative Medicine
Inhibition of DYRK1A disrupts neural lineage specificationin human pluripotent stem cells
Stephanie F Bellmaine et al.
Small molecule inhibition of stem cell differentiation in vitro provides novel insight into how DYRK1A loss disrupts human nervous system development.
NPTX2 and cognitive dysfunction in Alzheimer’s Disease
Mei-Fang Xiao et al.
Dysfunction of pyramidal neuron-PV interneuron circuits contributes to cognitive failure in Alzheimer's disease.
The transcription factor Hey and nuclear lamins specify and maintain cell identity
Naama Flint Brodsly et al.
Hey together with LaminC continuously supervise nuclear organisation and differentiated enterocyte identity, a regulation that is lost upon ageing, resulting in loss of gut homeostasis.
Chromosomes and Gene Expression
Computational and Systems Biology
Increased longevity due to sexual activity in mole-rats is associated with transcriptional changes in the HPA stress axis
Arne Sahm et al.
The fact that sexual activity/reproduction doubles the lifespan of certain rodent species is most likely linked to critical changes in the regulation of the hypothalamic–pituitary–adrenal stress axis.
Genetics and Genomics
Patient-specific genomics and cross-species functional analysis implicate LRP2 in hypoplastic left heart syndrome
Jeanne L Theis et al.
Hypoplastic left heart syndrome is reflected by reduced proliferative capacity of patient iPSC-derived cardiomyocytes and requires the activity of LRP2/APOB proteins, likely in conjunction with SHH and WNT signaling pathways.
Impaired spatial memory codes in a mouse model of Rett syndrome
Sara E Kee et al.
Hypersynchrony in a mouse model of Rett syndrome impairs ripple-dependent memory consolidation and leads to a decrease in experience-dependent refinement of place cell activities.
Biochemistry and Chemical Biology
A model for regulation by SynGAP-α1 of binding of synaptic proteins to PDZ-domain 'Slots' in the postsynaptic density
Ward G Walkup IV et al.
The α1 isoform of synGAP restricts the binding of AMPA-receptors and other regulatory proteins to PSD-95, and thus regulates synaptic strength.
LUZP1, a novel regulator of primary cilia and the actin cytoskeleton, is a contributing factor in Townes-Brocks Syndrome
Laura Bozal-Basterra et al.
LUZP1 is required for proper cilia and cytoskeleton formation.
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