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Search life-sciences literature (45,104,145 articles, preprints and more)

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Increasing intracellular dNTP levels improves prime editing efficiency.
Liu P, Ponnienselvan K, Nyalile T, Oikemus S, Joynt AT, Iyer S, Kelly K, Guo D, Kyawe PP, Vanderleeden E, Redick SD, Huang L, Chen Z, Lee JM, Schiffer CA, Harlan DM, Wang JP, Emerson CP, Lawson ND, [...] Wolfe SA
Nat Biotechnol, 25 Sep 2024
Cited by: 1 article | PMID: 39322763
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Investigation of CFTR Function in Human Nasal Epithelial Cells Informs Personalized Medicine.
Pion A, Kavanagh E, Joynt AT, Raraigh KS, Vanscoy L, Langfelder-Schwind E, McNamara J, Moore B, Patel S, Merlo K, Temme R, Capurro V, Pesce E, Merlo C, Pedemonte N, Cutting GR, Sharma N
Am J Respir Cell Mol Biol, 71(5):577-588, 01 Nov 2024
Cited by: 0 articles | PMID: 39012815
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Use of adenine base editing and homology-independent targeted integration strategies to correct the cystic fibrosis causing variant, W1282X.
Mention K, Cavusoglu-Doran K, Joynt AT, Santos L, Sanz D, Eastman AC, Merlo C, Langfelder-Schwind E, Scallan MF, Farinha CM, Cutting GR, Sharma N, Harrison PT
Hum Mol Genet, 32(23):3237-3248, 01 Nov 2023
Cited by: 0 articles | PMID: 37649273 | PMCID: PMC10656707
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Addressing the dNTP bottleneck restricting prime editing activity
Ponnienselvan K, Liu P, Nyalile T, Oikemus S, Joynt AT, Kelly K, Guo D, Chen Z, Lee JM, Schiffer CA, Emerson CP, Lawson ND, Watts JK, Sontheimer EJ, Luban J, Wolfe SA
bioRxiv, 21 Oct 2023
Cited by: 0 articles | PPR: PPR746039
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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.
Joynt AT, Kavanagh EW, Newby GA, Mitchell S, Eastman AC, Paul KC, Bowling AD, Osorio DL, Merlo CA, Patel SU, Raraigh KS, Liu DR, Sharma N, Cutting GR
Mol Ther Nucleic Acids, 33:335-350, 29 Jun 2023
Cited by: 1 article | PMID: 37547293 | PMCID: PMC10400809
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Genetics of Cystic Fibrosis: Clinical Implications.
Joynt AT, Cutting GR, Sharma N
Clin Chest Med, 43(4):591-602, 01 Dec 2022
Cited by: 7 articles | PMID: 36344068
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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.
Osei-Owusu IA, Norris AL, Joynt AT, Thorpe J, Cho S, Tierney E, Schmidt J, Hagopian L, Harris J, Pevsner J
Cold Spring Harb Mol Case Stud, 6(6):a005884, 17 Dec 2020
Cited by: 2 articles | PMID: 33335013 | PMCID: PMC7784495
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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.
Joynt AT, Evans TA, Pellicore MJ, Davis-Marcisak EF, Aksit MA, Eastman AC, Patel SU, Paul KC, Osorio DL, Bowling AD, Cotton CU, Raraigh KS, West NE, Merlo CA, Cutting GR, Sharma N
PLoS Genet, 16(10):e1009100, 21 Oct 2020
Cited by: 16 articles | PMID: 33085659 | PMCID: PMC7605713
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Decreased mRNA and protein stability of W1282X limits response to modulator therapy.
Aksit MA, Bowling AD, Evans TA, Joynt AT, Osorio D, Patel S, West N, Merlo C, Sosnay PR, Cutting GR, Sharma N
J Cyst Fibros, 18(5):606-613, 23 Feb 2019
Cited by: 27 articles | PMID: 30803905 | PMCID: PMC6706327
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Correlating Cystic Fibrosis Transmembrane Conductance Regulator Function with Clinical Features to Inform Precision Treatment of Cystic Fibrosis.
McCague AF, Raraigh KS, Pellicore MJ, Davis-Marcisak EF, Evans TA, Han ST, Lu Z, Joynt AT, Sharma N, Castellani C, Collaco JM, Corey M, Lewis MH, Penland CM, Rommens JM, Stephenson AL, Sosnay PR, Cutting GR
Am J Respir Crit Care Med, 199(9):1116-1126, 01 May 2019
Cited by: 46 articles | PMID: 30888834 | PMCID: PMC6515867
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Capitalizing on the heterogeneous effects of CFTR nonsense and frameshift variants to inform therapeutic strategy for cystic fibrosis.
Sharma N, Evans TA, Pellicore MJ, Davis E, Aksit MA, McCague AF, Joynt AT, Lu Z, Han ST, Anzmann AF, Lam AN, Thaxton A, West N, Merlo C, Gottschalk LB, Raraigh KS, Sosnay PR, Cotton CU, Cutting GR
PLoS Genet, 14(11):e1007723, 16 Nov 2018
Cited by: 29 articles | PMID: 30444886 | PMCID: PMC6267994
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Residual function of cystic fibrosis mutants predicts response to small molecule CFTR modulators.
Han ST, Rab A, Pellicore MJ, Davis EF, McCague AF, Evans TA, Joynt AT, Lu Z, Cai Z, Raraigh KS, Hong JS, Sheppard DN, Sorscher EJ, Cutting GR
JCI Insight, 3(14):121159, 26 Jul 2018
Cited by: 54 articles | PMID: 30046002 | PMCID: PMC6124440
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Functional Assays Are Essential for Interpretation of Missense Variants Associated with Variable Expressivity.
Raraigh KS, Han ST, Davis E, Evans TA, Pellicore MJ, McCague AF, Joynt AT, Lu Z, Atalar M, Sharma N, Sheridan MB, Sosnay PR, Cutting GR
Am J Hum Genet, 102(6):1062-1077, 24 May 2018
Cited by: 46 articles | PMID: 29805046 | PMCID: PMC5992123
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