Calvin U. Cotton

Upregulation of a CFTR mRNA isoform has therapeutic potential for the treatment of 3′ CFTR PTC variants

Norm Allaire, Matthew S. Armstrong, Jae Seok Yoon, Mercy C. Walker et autres

transport function in immortalized epithelial and primary hBE cells homozygous for CFTR W1282X, respectively. This study provides a foundation for advancing ASO-mediated upregulation of e22 trunc mRNA and protein as a therapeutic approach for cystic fibrosis caused by 3'-terminal CFTR PTC mutations.

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POS0196-PARE STEROIDS AND ME: A PRACTICAL TOOL FOR SHARED DECISION-MAKING ABOUT GLUCOCORTICOID TAPERS

John H. Stone, Michael Henry Stone, M. Petri, G. Papliodis et autres

Background: Patients have had no curated, comprehensive educational resource about steroid use to facilitate shared decision-making conversations with their physicians. Consequently, shared decision-making around steroid treatment has been challenging. Sam ("Steroids and me") was co-created by academic clinicians, patients, patient advocacy groups …

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291 A CFTR super exon consisting of exons 22–27 partially rescues CFTR function

A. Bell, K. Bukis, Pallavi Bhatt, Y. Cheng et autres

343 Identification of candidate sites for superexon insertion in CFTR intron 1

Andrey Sivachenko, J Conté, Hillary C. Valley, Karen S. Raraigh et autres

217 Induced pluripotent stem cell–derived airway basal cell direct thaw protocol: A method to generate reproducible induced pluripotent stem cell–derived air-liquid-interface cultures

Sadaf Atarod, Junjie Lu, V. Momyer, Divya Gordhanbhai Patel et autres

Upregulation of a nonsense mediated decay (NMD) insensitive CFTR mRNA isoform has therapeutic potential for the treatment of 3’ CFTR PTC variants

Norm Allaire, M. Armstrong, Jae Seok Yoon, Priyanka Bhatt et autres

Abstract Background Nonsense or Premature Termination Codon (PTC) mutations of the CFTR gene are pathogenic and found in ∼10% of North American people with cystic fibrosis. PTC mutations induce Nonsense-Mediated mRNA Decay (NMD), leading to a substantial (∼80-90%) reduction in full-length mRNA. …

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317 AW1282X mouse model for cystic fibrosis and in vitro correction of the phenotype by pharmacologics and gene editing

M. Michicich, Zachary P. Traylor, M. Steele, Ronald A. Conlon et autres

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250 Establishing predictive models for therapeutic development of cystic fibrosis gene editing

Adam C. Bell, J Conté, M. Armstrong, M. Chado et autres

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257 Evaluating genetic components to move toward a highly effective CFTR super exon

Kang Yan, A. Bell, C. Macadino, J Conté et autres

328 Cystic Fibrosis Foundation Therapeutics Lab: Omics data repository from cystic fibrosis–relevant in vitro cell models

Norm Allaire, Andrey Sivachenko, J. Conte, Barbara Tabak et autres

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320 CFTR premature termination codon (PTC) readthrough can be enhanced by targeting the downstream region of PTCs with stericblocking antisense oligonucleotides

Joo-Mi Yoon, Madelyn L. Armstrong, M. Chado, S. Cantu et autres

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Human airway epithelial cell pH regulatory proteins in cystic fibrosis: Differential expression in nasal and bronchial airway cells

Michael D. Davis, Benjamin M Gaston, Laura A. Smith, Rania Abdul Rahman et autres

Abstract Background. Decreased apical bicarbonate transport into the airway surface liquid (ASL) has been associated with decreased ASL pH in some studies. Low ASL pH can have adverse respiratory effects. However, the human CF epithelium can also normalize ASL pH. We hypothesized …

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