Hereditary hemorrhagic telangiectasia: First demonstration of a founder effect in Italy; the ACVRL1 c.289_294del variant originated in the country of Bergamo 200 years ago
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1972
Abstract: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular disorder, affecting 1:5000 individuals worldwide. All the genes associated to the disease (ENG, ACVRL1, SMAD4, GDF2) belong to the TGF‐β/BMPs signaling pathway. read more here.
Keywords: hereditary hemorrhagic; hemorrhagic telangiectasia; first demonstration; telangiectasia first ... See more keywords
First demonstration of antimatter wave interferometry
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DOI: 10.1126/sciadv.aav7610
Abstract: We have demonstrated wave-particle duality of single positrons in a double-slit-like experiment. Interference of matter waves is at the heart of quantum physics and has been observed for a wide range of particles from electrons… read more here.
Keywords: wave interferometry; antimatter wave; interference; first demonstration ... See more keywords
First demonstration of tuning between the Kitaev and Ising limits in a honeycomb lattice
Sign Up to like & getrecommendations! Published in 2022 at "Science Advances"
DOI: 10.1126/sciadv.abl5671
Abstract: Recent observations of novel spin-orbit coupled states have generated interest in 4d/5d transition metal systems. A prime example is the Jeff=12 state in iridate materials and α-RuCl3 that drives Kitaev interactions. Here, by tuning the… read more here.
Keywords: state; kitaev ising; ising limits; tuning kitaev ... See more keywords
First Demonstration of Functional Task Performance Using a Sonomyographic Prosthesis: A Case Study
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Bioengineering and Biotechnology"
DOI: 10.3389/fbioe.2022.876836
Abstract: Ultrasound-based sensing of muscle deformation, known as sonomyography, has shown promise for accurately classifying the intended hand grasps of individuals with upper limb loss in offline settings. Building upon this previous work, we present the… read more here.
Keywords: hand; prosthesis; first demonstration; study ... See more keywords