Discovery of over 200 new and expanded genetic conditions using GeneMatcher
Sign Up to like & getrecommendations! Published in 2022 at "Human Mutation"
DOI: 10.1002/humu.24351
Abstract: GeneMatcher is a platform through which various stakeholders can connect with others interested in candidate gene findings. GeneDx, a diagnostic laboratory, has utilized GeneMatcher over the last seven years to successfully facilitate connections between clinicians… read more here.
Keywords: expanded genetic; 200 new; new expanded; genematcher ... See more keywords
Equitable delivery of expanded genetic technologies: Considerations for prenatal and reproductive care
Sign Up to like & getrecommendations! Published in 2023 at "Prenatal Diagnosis"
DOI: 10.1002/pd.6338
Abstract: NA This article is protected by copyright. All rights reserved. read more here.
Keywords: genetic technologies; expanded genetic; equitable delivery; technologies considerations ... See more keywords
Tautomeric Equilibria of Nucleobases in the Hachimoji Expanded Genetic Alphabet.
Sign Up to like & getrecommendations! Published in 2020 at "Journal of chemical theory and computation"
DOI: 10.1021/acs.jctc.9b01079
Abstract: Evolution has yielded biopolymers that are constructed from exactly four building blocks and are able to support Darwinian evolution. Synthetic biology aims to extend this alphabet, and we recently showed that 8-letter (hachimoji) DNA can… read more here.
Keywords: hachimoji; alphabet; expanded genetic; genetic alphabet ... See more keywords
Expanded Genetic Alphabets: Managing Nucleotides That Lack Tautomeric, Protonated, or Deprotonated Versions Complementary to Natural Nucleotides.
Sign Up to like & getrecommendations! Published in 2017 at "ACS synthetic biology"
DOI: 10.1021/acssynbio.6b00193
Abstract: 2,4-Diaminopyrimidine (trivially K) and imidazo[1,2-a]-1,3,5-triazine-2(8H)-4(3H)-dione (trivially X) form a nucleobase pair with Watson-Crick geometry as part of an artificially expanded genetic information system (AEGIS). Neither K nor X can form a Watson-Crick pair with any… read more here.
Keywords: watson crick; pair; expanded genetic; nucleobase ... See more keywords
A Single Deoxynucleoside Kinase Variant from Drosophila melanogaster Synthesizes Monophosphates of Nucleosides That Are Components of an Expanded Genetic System.
Sign Up to like & getrecommendations! Published in 2017 at "ACS synthetic biology"
DOI: 10.1021/acssynbio.6b00228
Abstract: Deoxynucleoside kinase from D. melanogaster (DmdNK) has broad specificity; although it catalyzes the phosphorylation of natural pyrimidine more efficiently than natural purine nucleosides, it accepts all four 2'-deoxynucleosides and many analogues, using ATP as a phosphate… read more here.
Keywords: melanogaster; system; deoxynucleoside kinase; expanded genetic ... See more keywords
In vitro evolution of ribonucleases from expanded genetic alphabets
Sign Up to like & getrecommendations! Published in 2022 at "Proceedings of the National Academy of Sciences of the United States of America"
DOI: 10.1073/pnas.2208261119
Abstract: Significance The ability of nucleic acids to catalyze reactions is important in the context of the origin of life and biomedical applications. However, the catalytic power of standard nucleic acids assembled from just four nucleotide… read more here.
Keywords: expanded genetic; evolution ribonucleases; genetic alphabets; vitro evolution ... See more keywords
Expanded genetic screening in Caenorhabditis elegans identifies new regulators and an inhibitory role for NAD+ in axon regeneration
Sign Up to like & getrecommendations! Published in 2018 at "eLife"
DOI: 10.7554/elife.39756
Abstract: The mechanisms underlying axon regeneration in mature neurons are relevant to the understanding of normal nervous system maintenance and for developing therapeutic strategies for injury. Here, we report novel pathways in axon regeneration, identified by… read more here.
Keywords: genetic screening; expanded genetic; axon regeneration; regeneration ... See more keywords