Search Results - "Joynt, Anya T"

Capitalizing on the heterogeneous effects of CFTR nonsense and frameshift variants to inform therapeutic strategy for cystic fibrosis by Sharma, Neeraj, Evans, Taylor A, Pellicore, Matthew J, Davis, Emily, Aksit, Melis A, McCague, Allison F, Joynt, Anya T, Lu, Zhongzhu, Han, Sangwoo T, Anzmann, Arianna F, Lam, Anh-Thu N, Thaxton, Abigail, West, Natalie, Merlo, Christian, Gottschalk, Laura B, Raraigh, Karen S, Sosnay, Patrick R, Cotton, Calvin U, Cutting, Garry R

“…CFTR modulators have revolutionized the treatment of individuals with cystic fibrosis (CF) by improving the function of existing protein. Unfortunately, almost…”
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Evaluation of both exonic and intronic variants for effects on RNA splicing allows for accurate assessment of the effectiveness of precision therapies by Joynt, Anya T, Evans, Taylor A, Pellicore, Matthew J, Davis-Marcisak, Emily F, Aksit, Melis A, Eastman, Alice C, Patel, Shivani U, Paul, Kathleen C, Osorio, Derek L, Bowling, Alyssa D, Cotton, Calvin U, Raraigh, Karen S, West, Natalie E, Merlo, Christian A, Cutting, Garry R, Sharma, Neeraj

“…Elucidating the functional consequence of molecular defects underlying genetic diseases enables appropriate design of therapeutic options. Treatment of cystic…”
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Protospacer modification improves base editing of a canonical splice site variant and recovery of CFTR function in human airway epithelial cells by Joynt, Anya T., Kavanagh, Erin W., Newby, Gregory A., Mitchell, Shakela, Eastman, Alice C., Paul, Kathleen C., Bowling, Alyssa D., Osorio, Derek L., Merlo, Christian A., Patel, Shivani U., Raraigh, Karen S., Liu, David R., Sharma, Neeraj, Cutting, Garry R.

“…Canonical splice site variants affecting the 5′ GT and 3′ AG nucleotides of introns result in severe missplicing and account for about 10% of disease-causing…”
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Genetics of Cystic Fibrosis: Clinical Implications by Joynt, Anya T, Cutting, Garry R, Sharma, Neeraj

“…Cystic fibrosis (CF) is a multiorgan disease caused by a wide variety of mutations in the cystic fibrosis transmembrane conductance regulator gene. As…”
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Functional Assays Are Essential for Interpretation of Missense Variants Associated with Variable Expressivity by Raraigh, Karen S., Han, Sangwoo T., Davis, Emily, Evans, Taylor A., Pellicore, Matthew J., McCague, Allison F., Joynt, Anya T., Lu, Zhongzhou, Atalar, Melis, Sharma, Neeraj, Sheridan, Molly B., Sosnay, Patrick R., Cutting, Garry R.

“…Missense DNA variants have variable effects upon protein function. Consequently, interpreting their pathogenicity is challenging, especially when they are…”
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Correlating Cystic Fibrosis Transmembrane Conductance Regulator Function with Clinical Features to Inform Precision Treatment of Cystic Fibrosis by McCague, Allison F, Raraigh, Karen S, Pellicore, Matthew J, Davis-Marcisak, Emily F, Evans, Taylor A, Han, Sangwoo T, Lu, Zhongzhou, Joynt, Anya T, Sharma, Neeraj, Castellani, Carlo, Collaco, Joseph M, Corey, Mary, Lewis, Michelle H, Penland, Chris M, Rommens, Johanna M, Stephenson, Anne L, Sosnay, Patrick R, Cutting, Garry R

“…The advent of precision treatment for cystic fibrosis using small-molecule therapeutics has created a need to estimate potential clinical improvements…”
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Use of adenine base editing and homology-independent targeted integration strategies to correct the cystic fibrosis causing variant, W1282X by Mention, Karen, Cavusoglu-Doran, Kader, Joynt, Anya T, Santos, Lúcia, Sanz, David, Eastman, Alice C, Merlo, Christian, Langfelder-Schwind, Elinor, Scallan, Martina F, Farinha, Carlos M, Cutting, Garry R, Sharma, Neeraj, Harrison, Patrick T

“…Abstract Small molecule drugs known as modulators can treat ~90% of people with cystic fibrosis (CF), but do not work for premature termination codon variants…”
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Increasing intracellular dNTP levels improves prime editing efficiency by Liu, Pengpeng, Ponnienselvan, Karthikeyan, Nyalile, Thomas, Oikemus, Sarah, Joynt, Anya T, Iyer, Sukanya, Kelly, Karen, Guo, Dongsheng, Kyawe, Pyae P, Vanderleeden, Emma, Redick, Sambra D, Huang, Lei, Chen, Zexiang, Lee, Jeong Min, Schiffer, Celia A, Harlan, David M, Wang, Jennifer P, Emerson, Jr, Charles P, Lawson, Nathan D, Watts, Jonathan K, Sontheimer, Erik J, Luban, Jeremy, Wolfe, Scot A

“…In primary cell types, intracellular deoxynucleotide triphosphate (dNTP) levels are tightly regulated in a cell cycle-dependent manner. We report that prime…”
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Residual function of cystic fibrosis mutants predicts response to small molecule CFTR modulators by Han, Sangwoo T, Rab, Andras, Pellicore, Matthew J, Davis, Emily F, McCague, Allison F, Evans, Taylor A, Joynt, Anya T, Lu, Zhongzhou, Cai, Zhiwei, Raraigh, Karen S, Hong, Jeong S, Sheppard, David N, Sorscher, Eric J, Cutting, Garry R

“…Treatment of individuals with cystic fibrosis (CF) has been transformed by small molecule therapies that target select pathogenic variants in the CF…”
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Characterization of an unbalanced translocation causing 3q28qter duplication and 10q26.2qter deletion in a patient with global developmental delay and self-injury by Osei-Owusu, Ikeoluwa A, Norris, Alexis L, Joynt, Anya T, Thorpe, Jeremy, Cho, Soonweng, Tierney, Elaine, Schmidt, Jonathan, Hagopian, Louis, Harris, Jacqueline, Pevsner, Jonathan

“…Chromosomal structural variation can cause severe neurodevelopmental and neuropsychiatric phenotypes. Here we present a nonverbal female adolescent with severe…”
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Genetics of Cystic Fibrosis by Joynt, Anya T., Cutting, Garry R., Sharma, Neeraj

“…Cystic fibrosis (CF) is a multiorgan disease caused by a wide variety of mutations in the cystic fibrosis transmembrane conductance regulator gene. As…”
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