Results 91 to 100 of about 25,918 (263)
Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco +2 more
wiley +1 more source
Crop Journal, 2020 Single-nucleotide polymorphisms contribute to phenotypic diversity in maize. Creation and functional annotation of point mutations has been limited by the low efficiency of conventional methods based on random mutation.
Yanmin Li +7 more
doaj +1 more source
Aquaculture Reports, 2022 Economic crustaceans play important roles in aquaculture and create great benefits for the world agricultural economy. Studies have found that there are many single nucleotide polymorphism (SNP) sites in the crustacean genomes, which closely related to a
Yujie Liu +5 more
doaj +1 more source
Comparison of cytosine base editors and development of the BEable-GPS database for targeting pathogenic SNVs [PDF]
Genome Biology, 2019 Abstract A variety of base editors have been developed to achieve C-to-T editing in different genomic contexts. Here, we compare a panel of five base editors on their C-to-T editing efficiencies and product purity at commonly editable sites, including some human pathogenic C-to-T mutations.
Ying Wang +8 more
openaire +3 more sources
Animal Models and Experimental Medicine, EarlyView.We established that mixed DdCBE microinjection is an efficient, heritable, and precise strategy for generating multiplex mtDNA mutant rats. This advancement significantly expands the utility of DdCBEs for mitochondrial disease modeling, providing a robust platform for exploring the pathogenic mechanisms of complex mtDNA mutations and developing ...
Xu Zhang +14 more
wiley +1 more source
Evaluation and minimization of Cas9-independent off-target DNA editing by cytosine base editors
Nature Biotechnology, 2020 Cytosine base editors (CBEs) enable targeted C•G-to-T•A conversions in genomic DNA. Recent studies report that BE3, the original CBE, induces a low frequency of genome-wide Cas9-independent off-target C•G-to-T•A mutation in mouse embryos and in rice. Here we develop multiple rapid, cost-effective methods to screen the propensity of different CBEs to ...
Jordan L. Doman +3 more
openaire +4 more sources
Mechanisms of base selection by the E.coli mispaired uracil glycosylase [PDF]
, 2008 The repair of the multitude of single-base lesions formed daily in the cells of all living organisms is accomplished primarily by the base-excision repair (BER) pathway that initiates repair through a series of lesion-selective glycosylases.
Darwanto, Agus +6 more
core +2 more sources
Expanded base editing in rice and wheat using a Cas9-adenosine deaminase fusion
Genome Biology, 2018 Nucleotide base editors in plants have been limited to conversion of cytosine to thymine. Here, we describe a new plant adenine base editor based on an evolved tRNA adenosine deaminase fused to the nickase CRISPR/Cas9, enabling A•T to G•C conversion at ...
Chao Li +7 more
doaj +1 more source
Frontiers in Cell and Developmental Biology, 2020 Human pluripotent stem cells (hPSCs) are a powerful platform for disease modeling and drug discovery. However, the introduction of known pathogenic mutations into hPSCs is a time-consuming and labor-intensive process.
Tao Qi +9 more
doaj +1 more source
DNA methylation profiling of the human major histocompatibility complex: A pilot study for the Human Epigenome Project [PDF]
, 2004 The Human Epigenome Project aims to identify, catalogue, and interpret genome-wide DNA methylation phenomena. Occurring naturally on cytosine bases at cytosine-guanine dinucleotides, DNA methylation is intimately involved in diverse biological processes ...
Andrews, TD +13 more
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