Genetics and Neurodevelopmental Disorders

This study uses MEG and a recurrent neural network model to show that reduced inhibition in ZDHHC9-deficient individuals explains altered auditory processing and cortical dynamics.

This study shows that SYNGAP1's structural role, not its enzymatic GAP activity, is critical for seizure susceptibility in heterozygous KO mice, while its GAP activity affects intrinsic excitability.

The paper identifies mistranslated long mRNAs in Syngap+/- CA1 neurons linked to LTP deficits, showing distinct translation changes compared to Fmr1-/y model.

The paper identifies TET3 downregulation in unmethylated FMR1 full mutation carriers and suggests it may contribute to the lack of methylation in FXS.

This paper develops a nanopore sequencing assay for FXS carrier screening, showing it can detect CGG repeat variations in reference and clinical samples with high accuracy.

This study investigates intrinsic excitability changes in hippocampal inhibitory interneurons in Fragile X mice, finding increased Ih in a specific subpopulation.

The paper identifies recurrent mutations in the RNU2-2P gene, which encodes U2 snRNA, as a cause of a severe neurodevelopmental disorder with prominent epilepsy.

This study investigates the phenotypic complexities of rare heterozygous NRXN1 deletions, showing cell-type-specific synaptic effects through LOF and GOF mechanisms, highlighting the need for precision medicine strategies.

This study analyzes neuroimaging data from patients with NAA10- and NAA15-related neurodevelopmental syndromes to identify anatomical abnormalities and their correlation with clinical outcomes.

This study models human LMX1B missense mutations in mice, showing they disrupt serotonin axon arbor formation and regulatory element binding, affecting brain development and function.

The paper identifies a novel interaction between PTCHD1 and SNAPIN and shows that some missense variants impair subcellular trafficking without affecting binding.

This study shows that Shank3-deficient rats have altered neural activity in the mesoaccumbens pathway, leading to impaired social reward processing, and that manipulating VTA activity can normalize behavior.

This study examines how pathogenic MYT1L mutations affect human cortical interneuron differentiation, maturation, and physiology using stem cell models.

This study shows that M1 receptor potentiation reduces apnea severity in Mecp2+/- mice by normalizing brainstem hyperactivity and altering neuronal activation patterns.

This study investigates how YY1 mutations disrupt corticogenesis by altering transcriptional networks in neural progenitors and neurons, with non-cell-autonomous effects on astrocytes.

The paper investigates the role of FMRP in neuronal RNA granules containing stalled ribosomes and finds that its loss affects granule stability but not ribosome stalling sites.

This study investigates how chromosomal and gonadal sex influence social motivation in mice, finding that gonadal sex primarily affects behavior while chromosomal sex interacts with genetic mutations to alter social behavior.

This study examines the effects of Myt1l heterozygous mutation on lifespan and health in mice, finding no significant difference in lifespan or end-of-life histopathology compared to wildtype mice.

This study investigates the role of FMRP in oligodendrocyte maturation and myelination in human and rat models, finding shared defects in morphology and function.

This study shows that USP7 deletion in mice causes neurological phenotypes, including synaptic proteome changes and dendritic spine defects, independent of p53.

This study investigates sex differences in UBE3A-dependent autism spectrum disorder using a mouse model, finding that androgen receptor dysregulation contributes to sexually dimorphic behavioral and molecular changes.

This study shows that Syngap1 in cortical neurons is essential for sensorimotor integration and perception by shaping neural dynamics and connectivity.

The paper shows that the ChAHP complex regulates upper-layer neuron production and NDD risk genes during neocortical development through progenitor proliferation and gene regulation.

The paper examines daily oscillations of the excitation/inhibition ratio in two mouse models of autism and finds disruptions in oscillation patterns rather than overall ratio levels.

This study shows that Pcdh9 deletion in mice causes synaptic overgrowth and excitatory transmission defects in the hippocampus, revealing its role in synaptic morphology and function.

This study evaluates the Tbr1-2A-CreER knock-in mouse line, showing reduced TBR1 protein levels and axon development issues, indicating it is a hypomorphic allele with implications for neurodevelopmental research.

The paper evaluates peptidomimetic inhibitors targeting TrkB/PSD-95 signaling in an Angelman Syndrome mouse model, showing improved seizure outcomes and cognition but not motor function.

This study defines the clinical spectrum and genotype-phenotype correlations of BCL11A-IDD by analyzing 75 patients with molecular and clinical data.

The paper identifies sex-specific transcriptomic changes in a mouse model of Rett syndrome, showing more differentially expressed genes in females and non-cell-autonomous effects.