TSC2 loss in neural progenitor cells suppresses mRNA translation of neurodevelopmental genes.

Tuberous sclerosis complex (TSC) is an inherited multi-system neurocutaneous disorder where patients often present with neurodevelopmental manifestations such as epilepsy and TSC-associated neuropsychiatric disorder (TAND) that includes autism spectrum disorder (ASD). TSC is caused by inactivating mutations in TSC1 or TSC2 tumor suppressor genes, with encoded proteins hamartin (TSC1) and tuberin (TSC2) forming a functional complex inhibiting mechanistic target of rapamycin complex 1 (mTORC1) signaling. This has led to treatment with allosteric mTORC1 inhibitor rapamycin analogs ("rapalogs") for TSC tumors; however, rapalogs are ineffective for treating neurodevelopmental manifestations.

Exploring, walking, and interacting in virtual reality with simulated low vision: a living contextual dataset.

We present the CREATTIVE3D dataset of human interaction and navigation at road crossings in virtual reality. The dataset has three main breakthroughs: (1) it is the largest dataset of human motion in fully-annotated scenarios (40 hours, 2.6 million poses), (2) it is captured in dynamic 3D scenes with multivariate - gaze, physiology, and motion - data, and (3) it investigates the impact of simulated low-vision conditions using dynamic eye tracking under real walking and simulated walking conditions.

A Case of Uveal Melanoma Masquerading as Choroidal Lymphoma.

Purpose: To present a case of uveal melanoma masquerading as choroidal lymphoma.

Methods: A retrospective case report in which medical and imaging records, including fundus photography, optical coherence tomography, fundus autofluorescence, fluorescein angiography, and ultrasonography were reviewed.

Results: A 77-year-old woman presented with decreased vision was found to have a diffuse, shallow, yellow choroidal mass associated with RPE pigmentary changes and exudative detachment in her right eye.

Placental growth factor modulates endothelial NO production and exacerbates experimental hepatopulmonary syndrome.

Background & Aims: Hepatopulmonary syndrome (HPS) results from portal hypertension, with or without cirrhosis, and is marked by pulmonary vascular dilations leading to severe hypoxemia. Although placental growth factor (PlGF) is important for vascular growth and endothelial function, its role in HPS is unclear. This study investigated the involvement of PlGF in experimental models of HPS and in patients.

Protein-RNA interactions mediated by silvestrol-insight into a unique molecular clamp.

Molecular staples or interfacial inhibitors are small molecules that exert their activity through co-association with macromolecules leading to various effects on target functions. Some molecules inhibit target activity, while others generate gain-of-function complexes. We and others have previously identified two structurally distinct classes of molecular staples, pateamine A and rocaglates.