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A novel compound heterozygous mutation in the DYNC2H1 gene in a Chinese family with Jeune syndrome.
Hereditas
January 2025
Key Laboratory of Reproductive Health Diseases Research and Translation of Ministry of Education & Key Laboratory of Human Reproductive Medicine and Genetic Research of Hainan Provincie & Hainan Provincial Clinical Research Center for Thalassemia, The First Affiliated Hospital of Hainan Medical University, Hainan Medical University, Haikou, Hainan, 571101, China.
Background: The dynein cytoplasmic two heavy chain 1 (DYNC2H1) gene encodes a cytoplasmic dynein subunit. Cytoplasmic dyneins transport cargo towards the minus end of microtubules and are thus termed the "retrograde" cellular motor. Mutations in DYNC2H1 are the main causative mutations of short rib-thoracic dysplasia syndrome type III with or without polydactyly (SRTD3).
View Article and Find Full Text PDFAccurate Dehydrogenation Enthalpies Dataset for Liquid Organic Hydrogen Carriers.
Sci Data
January 2025
Materials Science Division, Argonne National Laboratory, Lemont, IL, 60439, USA.
This contribution presents a comprehensive extension of the QM9 dataset (originally at 133 K molecules) with the calculation of G4MP2 enthalpies for 9,841 molecules, featuring up to nine heavy atoms. We present QM9-LOHC, a (de)hydrogenation dataset of 10,373 reactions, including a minimum of 5.5% weight hydrogen storage capacity in line with the Department of Energy standards for Liquid Organic Hydrogen Carriers (LOHC).
View Article and Find Full Text PDFMultifunctional UV photodetect-memristors based on area selective fabricated GaS/graphene/GaN van der Waals heterojunctions.
Mater Horiz
January 2025
School of Materials Scicence and Engineering, South China University of Technology, Guangzhou, 510640, China.
Multifunctional devices based on van der Waals heterojunctions have drawn significant attention owing to their portable size, low power consumption and various application scenarios. However, high fabrication equipment requirements, complex device structures and limited operating conditions hinder their potential value. Herein, multifunctional UV photodetect-memristors based on GaS/graphene/GaN van der Waals heterojunctions area selective deposition have been proposed for the first time.
View Article and Find Full Text PDFFactors influencing role preferences in decision-making of healthy women with BRCA1/2 pathogenic variants: subanalysis from a randomised controlled decision coaching trial.
BMC Cancer
January 2025
Faculty of Medicine, University of Cologne and Institute for Health Economics and Clinical Epidemiology, University Hospital Cologne, Cologne, Germany.
Background: Patients who actively engage in their medical decision-making processes can experience better health outcomes. This exploratory study aimed to identify predictors of preferred and actual roles in decision-making in healthy women with BRCA1/2 pathogenic variants (PVs).
Methods: Women with BRCA1/2 PVs without a history of breast and/or ovarian cancer were recruited in six centres across Germany.
Low Temperature Atomic Layer Deposition of (00l)-Oriented Elemental Bismuth.
Angew Chem Int Ed Engl
January 2025
Leibniz-Institut fur Festkorper- und Werkstoffforschung Dresden eV, Helmholtzstraße 20, 01069, Dresden, GERMANY.
This study presents the first successful demonstration of growing elemental bismuth (Bi) thin films via thermal atomic layer deposition (ALD) using Bi(NMe2)3 as the precursor and Sb(SiMe3)3 as the co-reactant. The films were deposited at a relatively low temperature of 100 °C, with a growth per cycle (GPC) of 0.31-0.
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