DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders.

BCL11B is a Cys2-His2 zinc-finger (C2H2-ZnF) domain-containing, DNA-binding, transcription factor with established roles in the development of various organs and tissues, primarily the immune and nervous systems. BCL11B germline variants have been associated with a variety of developmental syndromes. However, genotype-phenotype correlations along with pathophysiologic mechanisms of selected variants mostly remain elusive.

Digital Dentists: A Curriculum for the 21st Century.

Future health professionals, including dentists, must critically engage with digital health technologies to enhance patient care. While digital health is increasingly being integrated into the curricula of health professions, its interpretation varies widely depending on the discipline, health care setting, and local factors. This viewpoint proposes a structured set of domains to guide the designing of a digital health curriculum tailored to the unique needs of dentistry in Australia.

G-quadruplex stabilization provokes DNA breaks in human PKD1, revealing a second hit mechanism for ADPKD.

The "secondhit" pathway is responsible for biallelic inactivation of many tumor suppressors, where a pathogenic germline allele is joined by somatic mutation of the remaining functional allele. The mechanisms are unresolved, but the human PKD1 tumor suppressor is a good experimental model for identifying the molecular determinants. Inactivation of PKD1 results in autosomal dominant polycystic kidney disease, a very common disorder characterized by the accumulation of fluid-filled cysts and end-stage renal disease.

Benefits and challenges of the integration of haptics-enhanced virtual reality training within dental curricula.

Background: Haptics-enhanced virtual reality (VR-haptic) simulation in dental education has evolved considerably during the past decade, representing a promising resource of simulation-based training opportunities to support conventional practice. We aim to summarize current literature on the applications of VR-haptics in learning, practicing, and teaching dental education.

Methods: A literature search was performed using PubMed, focusing on research articles published between January 2010 and January 2024.