Human TSC2 mutant cells exhibit aberrations in early neurodevelopment accompanied by changes in the DNA Methylome.

Tuberous Sclerosis Complex (TSC) is a debilitating developmental disorder characterized by a variety of clinical manifestations. While benign tumors in the heart, lungs, kidney, and brain are all hallmarks of the disease, the most severe symptoms of TSC are often neurological, including seizures, autism, psychiatric disorders, and intellectual disabilities. TSC is caused by loss of function mutations in the TSC1 or TSC2 genes and consequent dysregulation of signaling via mechanistic Target of Rapamycin Complex 1 (mTORC1).

Complete Genome Sequence of the Cluster DJ Actinobacteriophage, Petito, isolated on the host .

Gordonia phage Petito is a newly discovered siphovirus that infects NRRL B-16540. The double-stranded DNA genome of this phage is 60,447 bp long with 93 predicted protein-coding genes and no tRNAs. Petito is a Cluster DJ phage.

Trends in surgical procedures for shoulder instability among patients with Ehlers-Danlos syndrome or joint hypermobility syndrome.

Background: Joint hypermobility syndrome (JHS) and Ehlers-Danlos Syndrome (EDS) are connective tissue disorders characterized by increased joint laxity, affecting musculoskeletal health and quality of life. In this study, we explored recent trends in surgical treatment of shoulder instability among patients with these disorders.

Methods: We searched the PearlDiver Mariner database, which includes deidentified US all-payer claims data from 2010 to 2020.

Ecosystem Drivers of Freshwater Mercury Bioaccumulation Are Context-Dependent: Insights from Continental-Scale Modeling.

Significant variation in mercury (Hg) bioaccumulation is observed across the diversity of freshwater ecosystems in North America. While there is support for the major drivers of Hg bioaccumulation, the relative influence of different external factors can vary widely among waterbodies, which makes predicting Hg risk across large spatial scales particularly challenging. We modeled Hg bioaccumulation by coupling Hg concentrations in more than 21,000 dragonflies collected across the United States from 2008 to 2021 with a suite of chemical (e.

Coaching through liminal phases: A qualitative study of graduating medical students' perceptions of the value of coaching experiences over the course of medical school.

Purpose: To explore graduating medical students' insights on the value of coaching experiences during each year of medical school while examining how coaching may support student development at various stages of training.

Methods: We invited all graduating students who participated in the coaching program from first through fourth year to participate in one 90-minute virtual focus group. We conducted a thematic analysis of all the focus group transcripts using inductive open coding to develop themes.