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Inherited retinal diseases (IRDs) are a genetically heterogeneous group of Mendelian disorders that often lead to progressive vision loss and involve approximately 300 distinct genes. Although variants in these loci account for the majority of molecular diagnoses, other genes associated with IRD await molecular identification. In this study, we uncover bi-allelic assortments of 23 different (22 lo

The rarity of preserved soft tissues in the fossil record has limited our understanding of the life appearance of extinct vertebrates. However, through examination of various osteological features and comparisons with extant ecomorphological analogues, we can predict some of the external characteristics of ancient taxa. Specifically, for the Cretaceous mosasaurians (a group of seagoing squamates),

Importance: Depressive symptoms are associated with cognitive decline in older individuals. Uncertainty about underlying mechanisms hampers diagnostic and therapeutic efforts. This large-scale study aimed to elucidate the association between depressive symptoms and amyloid pathology. Objective: To examine the association between depressive symptoms and amyloid pathology and its dependency on age,

The medieval church and cemetery of Westerhus (Västerhus) is situated on the island of Frösön in the province of Jämtland, Mid-Sweden. The site was completely excavated and underwent anthropological analysis, published by Nils-Gustaf Gejvall in 1960. A number of early radiocarbon datings were later obtained (Gejvall 1968). In 2009 a new study of the church, site, burials and humans was presented b

Transcriptome-wide association studies (TWAS) are powerful tools for identifying gene-level associations by integrating genome-wide association studies and gene expression data. However, most TWAS methods focus on linear associations between genes and traits, ignoring the complex nonlinear relationships that may be present in biological systems. To address this limitation, we propose a novel frame

Eosinophils are increasingly recognized as adaptable immune cells that exhibit diverse phenotypes and effector functions across different tissues and disease states. While they can induce pathology through degranulation and cytotoxic mediator release, eosinophils also fulfill regulatory and tissue repair roles. Advances in single-cell and spatial technologies have begun to reveal how microenvironm

Summary: The relationship between rheumatoid arthritis (RA) and fracture risk was estimated in an international meta-analysis of individual-level data from 29 prospective cohorts. RA was associated with an increased fracture risk in men and women, and these data will be used to update FRAX®. Introduction: RA is a well-documented risk factor for subsequent fracture that is incorporated into the FRA

Context. Wind dynamics play a pivotal role in governing transport processes within planetary atmospheres, influencing atmospheric chemistry, cloud formation, and the overall energy budget. Understanding the strength and patterns of winds is crucial for comprehensive insights into the physics of ultra-hot-Jupiter atmospheres. Current research has proposed different mechanisms that limit wind speeds

Background Human papillomavirus (HPV) is associated with an increased risk for a variety of squamous cell carcinomas in the general population. The risk for subsequent squamous cell carcinomas in blood or marrow transplantation survivors that are potentially related to HPV (cervical, oropharyngeal, vulvar, vaginal, anal, and penile cancer; HPV-related squamous cell carcinomas) remains unknown. Met

Background: Left-sided pancreatic cancer is associated with worse overall survival (OS) compared with right-sided pancreatic cancer. Although neoadjuvant therapy is currently seen as not effective in patients with resectable pancreatic cancer (RPC), current randomized trials included mostly patients with right-sided RPC. The purpose of this study was to assess the association between neoadjuvant t

This article explores the intricate relation between translation and the Nobel Prize in Literature through the lens of a special case: the 1939 award to Finnish novelist Frans Eemil Sillanpää. The discussions in the Nobel committee, and the decision of the Swedish Academy to select Sillanpää for the prize, were deeply affected by the long and complicated political and cultural history of neighbors

Buildings are responsible for over one-third of global energy use and greenhouse gas emissions, with heating and cooling being major contributors. Phase change materials (PCMs) offer a promising passive solution to improve thermal regulation and reduce heating and cooling loads. This review analyses different experimental and simulation-based studies on the integration of PCMs into building struct

Underpinning the project of massification of higher education (HE) is the stated aim to make HE accessible and equitable to all those who could benefit from it. Nevertheless, key metrics of success–access and participation, retention, degree outcomes–reveal inequalities related to race, gender and social class. Policies at both institutional and national levels, across international settings, aim

High variability in stem cell research is a well-known limiting phenomenon, with technical variation across experiments and laboratories often surpassing variation caused by genotypic effects of induced pluripotent stem cell (iPSC) lines. Evaluation of kidney organoid protocols and culture conditions across laboratories remains scarce in the literature. We used the original air-medium interface pr