Eunice Kennedy Shriver National Institute of Child Health and Human Development

Ets2 Is an Activity‐Dependent Transcriptional Regulator of a Fast‐Twitch Muscle Program

The functional properties of excitable cells, including skeletal muscle, are regulated by electrical activity. Distinct motoneuron firing patterns control contraction speed, strength, and endurance of fast- and slow-twitch myofibers by activating transcriptional programs that spe...

Competing presynaptic protein assemblies coordinate basal neurotransmission with homeostatic plasticity

Neural circuits establish a stable basal level of synaptic transmission that is maintained throughout life. When synaptic activity is perturbed, homeostatic mechanisms restore this set point, but how neurons reconcile long-term stability and rapid compensatory plasticity remains...

A Kv4.2-mGluR5 complex drives enhanced depotentiation in a mouse model of improved cognitive flexibility

Memory updating promotes cognitive flexibility by enabling suppression of outdated information to optimize behavioral strategies in response to a changing environment. While some circuits involved have been identified, the synaptic mechanisms underlying this process remain uncert...

A phosphoinositide and RAB switch controls early macropinocytosis

Macropinocytosis is a non-selective endocytic process by which cells take up large amounts of extracellular fluid into giant vesicles known as macropinosomes. This mechanism is used by immune cells to sample the surroundings for antigens and can be exploited by cancer cells for n...

Using multi-trait polygenic scores to predict lithium responsiveness in patients with bipolar disorder

Background The predictive power of polygenic scores (PGSs) for lithium treatment response in bipolar disorder remains limited. Aims To enhance the prediction of lithium responsiveness by developing a multi-trait PGS (mt-PGS) combining genetic information from multiple phenotypes...

A multiomic atlas reveals distinct immune landscapes in preterm and term chronic placental inflammation

Chronic placental inflammation (CPI), an umbrella term encompassing chronic chorioamnionitis, chronic villitis, and chronic deciduitis, is associated with preterm birth (PTB), yet its cellular and molecular determinants across gestation remain poorly defined. Here, we constructed...

A randomized phase 2 placebo-controlled trial of clobetasol solution for oral chronic graft-versus-host disease therapy

Chronic graft-versus-host disease (cGVHD) affects multiple organ systems and frequently the mouth. There is an unmet need for more effective topical therapy to adequately control cGVHD in the oral cavity. Clobetasol is a super-potent synthetic glucocorticoid formulated here as an...

Sleep Duration and Metabolic Biomarkers During Pregnancy: A Longitudinal Study in a Multiracial Cohort

Abstract Objective: To examine associations between sleep duration and metabolic biomarkers in pregnant women. Methods: This nested case-control study involved 321 pregnant women from the Eunice Kennedy Shriver National Institute of Child Health and Human Development Fetal Growth...

PPGLomics: An Interactive Platform for Pheochromocytoma and Paraganglioma Transcriptomics

Pheochromocytoma and paraganglioma (PPGL) are rare neuroendocrine tumors with unique biological behavior and remarkably high heritability, yet dedicated bioinformatics resources for these diagnoses remain limited. Existing cancer multi-omics platforms are pan-cancer in scope, oft...

ReMeDy : A Flexible Statistical Framework for Region‐Based Detection of DNA Methylation Dysregulation

Region-based epigenome-wide association studies have demonstrated improved statistical power and biological interpretability compared with probe-wise analyses of DNA methylation data. However, most existing region-based methods characterize methylation dysregulation primarily thr...

Aspiration and silent aspiration in Niemann-Pick disease type C1: longitudinal findings from the NIH natural history study

Abstract Background Niemann–Pick disease type C1 (NPC1) is a rare neurodegenerative disorder in which dysphagia is common and aspiration pneumonia is a leading cause of mortality. Aspiration may be clinically apparent or silent, reflecting impaired airway sensation and protective...

An optogenetic toolkit for robust activation of FGF, BMP, & Nodal signaling in zebrafish.

Cell signaling regulates a wide range of biological processes including development, homeostasis, and disease. Accessible technologies to precisely manipulate signaling have important applications in basic and translational research. Here, we present an optogenetic toolkit for si...