De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.

The U4 small nuclear RNA (snRNA) forms a duplex with the U6 snRNA and, together with U5 and ~30 proteins, is part of the U4/U6.U5 tri-snRNP complex, located at the core of the major spliceosome. Recently, recurrent variants in the U4 RNA, transcribed from the gene, and in at least two other genes were discovered to cause neurodevelopmental disorder.

Insights into eye genetics and recent advances in ocular gene therapy.

The rapid advancements in the field of genetics have significantly propelled the development of gene therapies, paving the way for innovative treatments of various hereditary disorders. This review focuses on the genetics of ophthalmologic conditions, highlighting the currently approved ophthalmic gene therapy and exploring emerging therapeutic strategies under development. Inherited retinal dystrophies represent a heterogeneous group of genetic disorders that manifest across a broad spectrum from infancy to late middle age.

Influence of meteorological changes on the occurrence of cerebral aneurysm rupture in the Montpellier region: A retrospective study.

Background/context: Aneurysmal subarachnoid hemorrhage (aSAH) is a sudden and potentially serious event. Recognized risk factors of aSAH include smoking, high blood pressure, and alcohol consumption. Some studies have reported associations between risk of aSAH and climatic conditions, but no consensus exists.

Dynamic and quasi static stiffness characterization of a lamination stack of an electric motor.

The development of electric motors for automotive applications requires precise material models to simulate structural strength and NVH (Noise, Vibration, and Harshness) properties. Modeling the behavior of lamination stacks, composed of stacked steel plates, presents significant challenges. This study conducted dynamic and quasi-static experiments at various preload levels on an unmodified automotive lamination stack.