Making precision medicine personal for cystic fibrosis. - National Genomics Data Center (CNCB-NGDC)

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Making precision medicine personal for cystic fibrosis.

Candela Manfredi, Janice M Tindall, Jeong S Hong, Eric J Sorscher

Author Information

Candela Manfredi: Emory University School of Medicine, Atlanta, GA, USA.
Janice M Tindall: University of Alabama at Birmingham, Birmingham, AL USA.
Jeong S Hong: Emory University School of Medicine, Atlanta, GA, USA.
Eric J Sorscher: Emory University School of Medicine, Atlanta, GA, USA. esorscher@emory.edu.

PMID: 31320522 DOI: 10.1126/science.aaw0553

No abstract text available.

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R01 HL136414/NHLBI NIH HHS
R01 HL139876/NHLBI NIH HHS

Cystic Fibrosis

Cystic Fibrosis Transmembrane Conductance Regulator

Humans

Mutation

Precision Medicine

Cystic Fibrosis Transmembrane Conductance Regulator

Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't

Precision Genomic Medicine in Cystic Fibrosis.Gene therapy for cystic fibrosis: new tools for precision medicine.CFTR Modulators: Shedding Light on Precision Medicine for Cystic Fibrosis.Cystic fibrosis: a model system for precision medicine.Cystic fibrosis transmembrane conductance regulator modulators: precision medicine in cystic fibrosis.Cystic fibrosis - an example of personalized and precision medicine.Cystic fibrosis in the era of precision medicine.[Cystic fibrosis: From gene discovery to precision medicine].Personalized or Precision Medicine? The Example of Cystic Fibrosis.The Pitfalls of Polypharmacy and Precision Medicine in Cystic Fibrosis.

Evaluating elexacaftor/tezacaftor/ivacaftor (ETI; Trikafta��) for treatment of patients with non-cystic fibrosis bronchiectasis (NCFBE): A clinical study protocol.Emerging Cystic Fibrosis Transmembrane Conductance Regulator Modulators as New Drugs for Cystic Fibrosis: A Portrait of Pharmacology and Clinical Translation.A Novel 7-[1,2,4]Triazolo[3,4-]thiadiazine-based Cystic Fibrosis Transmembrane Conductance Regulator Potentiator Directed toward Treatment of Cystic Fibrosis.Global assessment of the integrated stress response in CF patient-derived airway and intestinal tissues.Mutation accumulation in H. sapiens F508del CFTR countermands dN/dS type genomic analysis.Positive epistasis between disease-causing missense mutations and silent polymorphism with effect on mRNA translation velocity.Amphiphilic shuttle peptide delivers base editor ribonucleoprotein to correct the CFTR R553X mutation in well-differentiated airway epithelial cells.The CFTR P67L variant reveals a key role for N-terminal lasso helices in channel folding, maturation, and pharmacologic rescue.Distinct proteostasis states drive pharmacologic chaperone susceptibility for cystic fibrosis transmembrane conductance regulator misfolding mutants.Triangulating variation in the population to define mechanisms for precision management of genetic disease.

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