Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.

Genetic diagnosis of rare diseases requires accurate identification and interpretation of genomic variants. Clinical and molecular scientists from 37 expert centers across Europe created the Solve-Rare Diseases Consortium (Solve-RD) resource, encompassing clinical, pedigree and genomic rare-disease data (94.5% exomes, 5.

Self-Reported Oral Health-Related Quality of Life and Orofacial Esthetics Among Young Adults With Treated Dental Trauma.

Objectives: This study aimed to explore how young adults with a history of dental trauma and restored teeth perceive their oral health-related quality of life (OHRQoL) and orofacial esthetics, with a focus on gender-based differences.

Materials And Methods: This pilot study is a retrospective case-control study. Young adults experiencing dental trauma and consequently receiving dental treatment were asked to answer CPQ11-14, Oral Esthetic Scale (OES), and some complimentary questions concerning the esthetics of their teeth.

Structural insights into the high basal activity and inverse agonism of the orphan receptor GPR6 implicated in Parkinson's disease.

GPR6 is an orphan G protein-coupled receptor with high constitutive activity found in D2-type dopamine receptor-expressing medium spiny neurons of the striatopallidal pathway, which is aberrantly hyperactivated in Parkinson's disease. Here, we solved crystal structures of GPR6 without the addition of a ligand (a pseudo-apo state) and in complex with two inverse agonists, including CVN424, which improved motor symptoms in patients with Parkinson's disease in clinical trials. In addition, we obtained a cryo-electron microscopy structure of the signaling complex between GPR6 and its cognate G heterotrimer.

Microresonator photonic wire bond integration for Kerr-microcomb generation.

Extremely high-Q microresonators provide an attractive platform for a plethora of photonic applications including optical frequency combs, high-precision metrology, telecommunication, microwave generation, narrow linewidth lasers, and stable frequency references. Moreover, the desire for compactness and a low power threshold for nonlinear phenomena have spurred investigation into integrated and scalable solutions. Historically, crystalline microresonators with Q ∼ 10 were one of the first material platforms providing unprecedented optical performance in a small form factor.