Anya T. Joynt
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View article: Efficient Cas9 nuclease-based editing in skeletal muscle via lipid nanoparticle delivery
Efficient Cas9 nuclease-based editing in skeletal muscle via lipid nanoparticle delivery Open
Gene editing holds great promise for muscular dystrophy treatment, but the rapid evaluation of different editing modalities in skeletal muscle in vivo remains challenging due to lack of simple, effective delivery tools. Here we demonstrate…
View article: Increasing intracellular dNTP levels improves prime editing efficiency
Increasing intracellular dNTP levels improves prime editing efficiency Open
View article: Addressing the dNTP bottleneck restricting prime editing activity
Addressing the dNTP bottleneck restricting prime editing activity Open
Prime editing efficiency is modest in cells that are quiescent or slowly proliferating where intracellular dNTP levels are tightly regulated. MMLV-reverse transcriptase - the prime editor polymerase subunit - requires high intracellular dN…
View article: 310 Primary nasal epithelial cultures present extensive clinical versatility in an era of personalized medicine
310 Primary nasal epithelial cultures present extensive clinical versatility in an era of personalized medicine Open
View article: Use of adenine base editing and homology-independent targeted integration strategies to correct the cystic fibrosis causing variant, W1282X
Use of adenine base editing and homology-independent targeted integration strategies to correct the cystic fibrosis causing variant, W1282X Open
Small molecule drugs known as modulators can treat ~90% of people with cystic fibrosis (CF), but do not work for premature termination codon variants such as W1282X (c.3846G>A). Here we evaluated two gene editing strategies, Adenine Bas…
View article: Protospacer modification improves base editing of a canonical splice site variant and recovery of CFTR function in human airway epithelial cells
Protospacer modification improves base editing of a canonical splice site variant and recovery of CFTR function in human airway epithelial cells Open
View article: 643: A novel splice modulator compound corrects splicing defect caused by c.2988G >A variant in CFTR
643: A novel splice modulator compound corrects splicing defect caused by c.2988G >A variant in CFTR Open
View article: Characterization of an unbalanced translocation causing 3q28qter duplication and 10q26.2qter deletion in a patient with global developmental delay and self-injury
Characterization of an unbalanced translocation causing 3q28qter duplication and 10q26.2qter deletion in a patient with global developmental delay and self-injury Open
Chromosomal structural variation can cause severe neurodevelopmental and neuropsychiatric phenotypes. Here we present a nonverbal female adolescent with severe stereotypic movement disorder with severe problem behavior (e.g., self-injuriou…
View article: Evaluation of both exonic and intronic variants for effects on RNA splicing allows for accurate assessment of the effectiveness of precision therapies
Evaluation of both exonic and intronic variants for effects on RNA splicing allows for accurate assessment of the effectiveness of precision therapies Open
Elucidating the functional consequence of molecular defects underlying genetic diseases enables appropriate design of therapeutic options. Treatment of cystic fibrosis (CF) is an exemplar of this paradigm as the development of CFTR modulat…
View article: Correlating Cystic Fibrosis Transmembrane Conductance Regulator Function with Clinical Features to Inform Precision Treatment of Cystic Fibrosis
Correlating Cystic Fibrosis Transmembrane Conductance Regulator Function with Clinical Features to Inform Precision Treatment of Cystic Fibrosis Open
Rationale: The advent of precision treatment for cystic fibrosis using small-molecule therapeutics has created a need to estimate potential clinical improvements attributable to increases in cystic fibrosis transmembrane conductance…
View article: Decreased mRNA and protein stability of W1282X limits response to modulator therapy
Decreased mRNA and protein stability of W1282X limits response to modulator therapy Open
Capitalizing on the heterogeneous effects of CFTR nonsense and frameshift variants to inform therapeutic strategy for cystic fibrosis Open
View article: Residual function of cystic fibrosis mutants predicts response to small molecule CFTR modulators
Residual function of cystic fibrosis mutants predicts response to small molecule CFTR modulators Open
Treatment of individuals with cystic fibrosis (CF) has been transformed by small molecule therapies that target select pathogenic variants in the CF transmembrane conductance regulator (CFTR). To expand treatment eligibility, we stably exp…
View article: Functional Assays Are Essential for Interpretation of Missense Variants Associated with Variable Expressivity
Functional Assays Are Essential for Interpretation of Missense Variants Associated with Variable Expressivity Open