Protospacer modification improves base editing of a canonical splice site variant and recovery of CFTR function in human airway epithelial cells

Authors: Anya T. Joynt, Erin W. Kavanagh, Gregory A. Newby, Shakela Mitchell, Alice C. Eastman, Kathleen C. Paul, Alyssa D. Bowling, Derek L. Osorio, Christian A. Merlo, Shivani U. Patel, Karen S. Raraigh, David R. Liu, Neeraj Sharma, Garry R. Cutting

Source: Molecular Therapy: Nucleic Acids, Vol 33, Iss , Pp 335-350 (2023)

Subject Terms: MT: RNA/DNA Editing, canonical splice site variant, CSSV, CRISPR-Cas9-mediated adenine base editing, ABE, primary airway epithelial cells, Therapeutics. Pharmacology, RM1-950

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2162253123001701; https://doaj.org/toc/2162-2531

Access URL: https://doaj.org/article/bc5d8bbde920459b9b6b2f50f6c229eb

Extracellular vesicles enhance pulmonary transduction of stably associated adeno‐associated virus following intratracheal administration

Authors: Gijung Kwak, Olesia Gololobova, Neeraj Sharma, Colin Caine, Marina Mazur, Kathleen Mulka, Natalie E. West, George M. Solomon, Garry R. Cutting, Kenneth W. Witwer, Steven M. Rowe, Michael Paulaitis, George Aslanidi, Jung Soo Suk

Source: Journal of Extracellular Vesicles, Vol 12, Iss 6, Pp n/a-n/a (2023)

Subject Terms: adeno‐associated virus, airway mucus, cellular entry, Extracellular vesicles, inhaled gene therapy, Cytology, QH573-671

File Description: electronic resource

Relation: https://doaj.org/toc/2001-3078

Access URL: https://doaj.org/article/6abb734052f740f4b814bff06fb9413f

A deep learning approach to identify gene targets of a therapeutic for human splicing disorders

Authors: Dadi Gao, Elisabetta Morini, Monica Salani, Aram J. Krauson, Anil Chekuri, Neeraj Sharma, Ashok Ragavendran, Serkan Erdin, Emily M. Logan, Wencheng Li, Amal Dakka, Jana Narasimhan, Xin Zhao, Nikolai Naryshkin, Christopher R. Trotta, Kerstin A. Effenberger, Matthew G. Woll, Vijayalakshmi Gabbeta, Gary Karp, Yong Yu, Graham Johnson, William D. Paquette, Garry R. Cutting, Michael E. Talkowski, Susan A. Slaugenhaupt

Source: Nature Communications, Vol 12, Iss 1, Pp 1-15 (2021)

Subject Terms: Science

File Description: electronic resource

Relation: https://doaj.org/toc/2041-1723

Access URL: https://doaj.org/article/a1488d5827774183bb159243db93b815

Leveraging TOPMed imputation server and constructing a cohort-specific imputation reference panel to enhance genotype imputation among cystic fibrosis patients

Authors: Quan Sun, Weifang Liu, Jonathan D. Rosen, Le Huang, Rhonda G. Pace, Hong Dang, Paul J. Gallins, Elizabeth E. Blue, Hua Ling, Harriet Corvol, Lisa J. Strug, Michael J. Bamshad, Ronald L. Gibson, Elizabeth W. Pugh, Scott M. Blackman, Garry R. Cutting, Wanda K. O'Neal, Yi-Hui Zhou, Fred A. Wright, Michael R. Knowles, Jia Wen, Yun Li

Source: HGG Advances, Vol 3, Iss 2, Pp 100090- (2022)

Subject Terms: genotype imputation, mendelian disease, cystic fibrosis, polygenic risk score, Genetics, QH426-470

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666247722000069; https://doaj.org/toc/2666-2477

Access URL: https://doaj.org/article/fe44bcc7f71a44b0aed41471c1966ed7

CFTR bearing variant p.Phe312del exhibits function inconsistent with phenotype and negligible response to ivacaftor

Authors: Karen S. Raraigh, Kathleen C. Paul, Jennifer L. Goralski, Erin N. Worthington, Anna V. Faino, Stanley Sciortino, Yiting Wang, Melis A. Aksit, Hua Ling, Derek L. Osorio, Frankline M. Onchiri, Shivani U. Patel, Christian A. Merlo, Kristina Montemayor, Ronald L. Gibson, Natalie E. West, Amita Thakerar, Robert J. Bridges, David N. Sheppard, Neeraj Sharma, Garry R. Cutting

Source: JCI Insight, Vol 7, Iss 6 (2022)

Subject Terms: Genetics, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/2379-3708

Access URL: https://doaj.org/article/78b4738b6909425d927439919d715df3

Out-of-clinic measurement of sweat chloride using a wearable sensor during low-intensity exercise

Authors: Dong-Hoon Choi, Grant B. Kitchen, Mark T. Jennings, Garry R. Cutting, Peter C. Searson

Source: npj Digital Medicine, Vol 3, Iss 1, Pp 1-4 (2020)

Subject Terms: Computer applications to medicine. Medical informatics, R858-859.7

File Description: electronic resource

Relation: https://doaj.org/toc/2398-6352

Access URL: https://doaj.org/article/4effbf5be7854a39ba5eb5769136e665

Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework

Authors: Sarah E. Brnich, Ahmad N. Abou Tayoun, Fergus J. Couch, Garry R. Cutting, Marc S. Greenblatt, Christopher D. Heinen, Dona M. Kanavy, Xi Luo, Shannon M. McNulty, Lea M. Starita, Sean V. Tavtigian, Matt W. Wright, Steven M. Harrison, Leslie G. Biesecker, Jonathan S. Berg, On behalf of the Clinical Genome Resource Sequence Variant Interpretation Working Group

Source: Genome Medicine, Vol 12, Iss 1, Pp 1-12 (2019)

Subject Terms: Functional assays, Guidelines, Variant interpretation, Medicine, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1756-994X

Access URL: https://doaj.org/article/4407a9ebc41048f29d3325398d3b8d31

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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.

Authors: Anya T Joynt, Taylor A Evans, Matthew J Pellicore, Emily F Davis-Marcisak, Melis A Aksit, Alice C Eastman, Shivani U Patel, Kathleen C Paul, Derek L Osorio, Alyssa D Bowling, Calvin U Cotton, Karen S Raraigh, Natalie E West, Christian A Merlo, Garry R Cutting, Neeraj Sharma

Source: PLoS Genetics, Vol 16, Iss 10, p e1009100 (2020)

Subject Terms: Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

Access URL: https://doaj.org/article/d474085b9069492aac9a9a9d1b71d72f

Mining GWAS and eQTL data for CF lung disease modifiers by gene expression imputation.

Authors: Hong Dang, Deepika Polineni, Rhonda G Pace, Jaclyn R Stonebraker, Harriet Corvol, Garry R Cutting, Mitchell L Drumm, Lisa J Strug, Wanda K O'Neal, Michael R Knowles

Source: PLoS ONE, Vol 15, Iss 11, p e0239189 (2020)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/8c1afe02419b4d98ad3f33a6e9cdaaad

Genetic association and transcriptome integration identify contributing genes and tissues at cystic fibrosis modifier loci.

Authors: Jiafen Gong, Fan Wang, Bowei Xiao, Naim Panjwani, Fan Lin, Katherine Keenan, Julie Avolio, Mohsen Esmaeili, Lin Zhang, Gengming He, David Soave, Scott Mastromatteo, Zeynep Baskurt, Sangook Kim, Wanda K O'Neal, Deepika Polineni, Scott M Blackman, Harriet Corvol, Garry R Cutting, Mitchell Drumm, Michael R Knowles, Johanna M Rommens, Lei Sun, Lisa J Strug

Source: PLoS Genetics, Vol 15, Iss 2, p e1008007 (2019)

Subject Terms: Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

Access URL: https://doaj.org/article/3c571d7e43ec4d68b05079348aa2ac8e

Capitalizing on the heterogeneous effects of CFTR nonsense and frameshift variants to inform therapeutic strategy for cystic fibrosis.

Authors: Neeraj Sharma, Taylor A Evans, Matthew J Pellicore, Emily Davis, Melis A Aksit, Allison F McCague, Anya T Joynt, Zhongzhu Lu, Sangwoo T Han, Arianna F Anzmann, Anh-Thu N Lam, Abigail Thaxton, Natalie West, Christian Merlo, Laura B Gottschalk, Karen S Raraigh, Patrick R Sosnay, Calvin U Cotton, Garry R Cutting

Source: PLoS Genetics, Vol 14, Iss 11, p e1007723 (2018)

Subject Terms: Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

Access URL: https://doaj.org/article/c0c6949dd9f04b7d817e9247c8d75a77

The relationship of lung function with ambient temperature.

Authors: Joseph M Collaco, Lawrence J Appel, John McGready, Garry R Cutting

Source: PLoS ONE, Vol 13, Iss 1, p e0191409 (2018)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: http://europepmc.org/articles/PMC5773195?pdf=render; https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/db32c2130eec494d91fbda94fcde4092

Variation in MSRA modifies risk of neonatal intestinal obstruction in cystic fibrosis.

Authors: Lindsay B Henderson, Vishal K Doshi, Scott M Blackman, Kathleen M Naughton, Rhonda G Pace, Jackob Moskovitz, Michael R Knowles, Peter R Durie, Mitchell L Drumm, Garry R Cutting

Source: PLoS Genetics, Vol 8, Iss 3, p e1002580 (2012)

Subject Terms: Genetics, QH426-470

File Description: electronic resource

Relation: http://europepmc.org/articles/PMC3305406?pdf=render; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

Access URL: https://doaj.org/article/45751a0fa02245bd8f517a51a44e5351

Effect of temperature on cystic fibrosis lung disease and infections: a replicated cohort study.

Authors: Joseph M Collaco, John McGready, Deanna M Green, Kathleen M Naughton, Christopher P Watson, Timothy Shields, Scott C Bell, Claire E Wainwright, ACFBAL Study Group, Garry R Cutting

Source: PLoS ONE, Vol 6, Iss 11, p e27784 (2011)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: http://europepmc.org/articles/PMC3220679?pdf=render; https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/e5cf7dc2d16e400786deaf276a82aa0e