Novel Splice-Altering Variants in the and Genes Causative of X-Linked Choroideremia and Cone Dystrophy.

Background: An estimated 10-15% of all genetic diseases are attributable to variants in noncanonical splice sites, auxiliary splice sites and deep-intronic variants. Most of these unstudied variants are classified as variants of uncertain significance (VUS), which are not clinically actionable. This study investigated two novel splice-altering variants, NM_000390.

The Benefits of Hearing Aids for Adults: A Systematic Umbrella Review.

Objectives: This umbrella review aims to summarize the major benefits of hearing aid usage in adults by synthesizing findings from published review articles.

Design: A comprehensive search of databases, including MEDLINE, EMBASE, PsycINFO, and Google Scholar, was conducted. The search was limited to English-language review articles published between 1990 and 2023, focusing on hearing aid outcomes in at least 5 adults (aged ≥18 years).

Systematic identification of Y-chromosome gene functions in mouse spermatogenesis.

The mammalian Y chromosome is essential for male fertility, but which Y genes regulate spermatogenesis is unresolved. We addressed this by generating 13 Y-deletant mouse models. In , , and deletants, spermatogenesis was impaired.

Co-methylation networks associated with cognition and structural brain development during adolescence.

Introduction: Typical adolescent neurodevelopment is marked by decreases in grey matter (GM) volume, increases in myelination, measured by fractional anisotropy (FA), and improvement in cognitive performance.

Methods: To understand how epigenetic changes, methylation (DNAm) in particular, may be involved during this phase of development, we studied cognitive assessments, DNAm from saliva, and neuroimaging data from a longitudinal cohort of normally developing adolescents, aged nine to fourteen. We extracted networks of methylation with patterns of correlated change using a weighted gene correlation network analysis (WCGNA).