Results 31 to 40 of about 7,856 (243)

Clinical Consequences and Functional Impact of the Rare S737F CFTR Variant and Its Responsiveness to CFTR Modulators

International Journal of Molecular Sciences, 2023
S737F is a Cystic Fibrosis (CF) transmembrane conductance regulator (CFTR) missense variant. The aim of our study was to describe the clinical features of a cohort of individuals carrying this variant.
V. Terlizzi, E. Pesce, V. Capurro, Valeria Tomati, M. Lena, C. Pastorino, R. Bocciardi, F. Zara, C. Centrone, G. Taccetti, C. Castellani, N. Pedemonte   +11 more
semanticscholar   +3 more sources

CFTR Modulators Restore Acidification of Autophago-Lysosomes and Bacterial Clearance in Cystic Fibrosis Macrophages

Frontiers in Cellular and Infection Microbiology, 2022
Cystic fibrosis (CF) human and mouse macrophages are defective in their ability to clear bacteria such as Burkholderia cenocepacia. The autophagy process in CF (F508del) macrophages is halted, and the underlying mechanism remains unclear.
Asmaa Badr, Asmaa Badr, Mostafa Eltobgy, Kathrin Krause, Kathrin Krause, Kaitlin Hamilton, Shady Estfanous, Shady Estfanous, Kylene P. Daily, Arwa Abu Khweek, Arwa Abu Khweek, Ahmad Hegazi, Midhun N. K. Anne, Cierra Carafice, Frank Robledo-Avila, Youssra Saqr, Xiaoli Zhang, Tracey L. Bonfield, Mikhail A. Gavrilin, Santiago Partida-Sanchez, Stephanie Seveau, Estelle Cormet-Boyaka, Amal O. Amer   +22 more
doaj   +2 more sources

Macroenzymes as a reason for aminotransferases flare in cystic fibrosis patients on CFTR modulators therapy – Report of three cases [PDF]

Heliyon
It has been shown that macro-ALT/macro-AST cause false increase of ALT/AST activity in standard laboratory testing.This short communication presents a group of cystic fibrosis subjects who developed aminotranferases flare a few months after initiation of
Marek Woynarowski, Ewa Sapiejka, Maria Jóźwiak, Justyna Milczewska, Katarzyna Zybert, Adam Krusiński, Jan Siwiec, Aldona Wierzbicka-Rucińska   +7 more
doaj   +2 more sources

Clinical pharmacology of CFTR modulators

With the development of cystic fibrosis transmembrane receptor (CFTR) modulating drugs, the landscape in cystic fibrosis (CF) care has changed dramatically. These drugs enable the treatment of the underlying cause of the disease. Although CFTR modulators show an impressive clincal effect at group level in people with CF (pwCF) with specific mutations ...
Meer - van de Grint, Renske van der, Heijerman, H.G.M., Wilms, E.B.   +2 more
core   +4 more sources

Effect of CFTR modulators on glucose homeostasis in children and young adults with cystic fibrosis-related diabetes: a systematic review [PDF]

Frontiers in Endocrinology
IntroductionCystic fibrosis (CF) is an autosomal recessive disorder caused by mutations in the CFTR gene, leading to impaired chloride transport, thickened mucus, and multiorgan dysfunction. Among its complications, cystic fibrosis-related diabetes (CFRD)
Paola Giordano, Giuseppina Leonetti, Vanja Granberg, Rosa Maria Pia Casolino, Giuseppe Lassandro, Maurizio Delvecchio, Giovanna Linguiti   +6 more
doaj   +2 more sources

CFTR modulators response of S737F and T465N CFTR variants on patient-derived rectal organoids [PDF]

Orphanet Journal of Rare Diseases
Background Predictions based on patient-derived materials of CFTR modulators efficacy have been performed lately in patient-derived cells, extending FDA-approved drugs for CF patients harboring rare variants.
Karina Kleinfelder, Paola Melotti, Anca Manuela Hristodor, Cristina Fevola, Giovanni Taccetti, Vito Terlizzi, Claudio Sorio   +6 more
doaj   +2 more sources

Pseudomonas infections persisting after CFTR modulators are widespread throughout the lungs and drive lung inflammation. [PDF]

Cell Host Microbe
Cystic fibrosis transmembrane conductance regulator (CFTR) modulators improve the physiological defect causing cystic fibrosis, but the lungs of most people remain infected and inflamed.
Durfey SL, Kapnadak SG, Pena T, Willmering MM, Godwin JD, Teresi ME, Heltshe SL, Vo AT, Villacreses RA, Aliukonyte I, Boyken L, Stroik MR, Morgan SJ, Wang GM, Betts HL, Zhang S, Goss CH, Clancy JP, Aitken ML, Steele C, Feder AF, Esther CR, Tiddens HAWM, Woods JC, Stoltz DA, Singh PK.   +25 more
europepmc   +2 more sources

Pharmacological Responses of the G542X-CFTR to CFTR Modulators

Frontiers in Molecular Biosciences, 2022
Cystic fibrosis (CF) is a lethal hereditary disease caused by loss-of-function mutations of the chloride channel cystic fibrosis transmembrane conductance regulator (CFTR). With the development of small-molecule CFTR modulators, including correctors that facilitate protein folding and expression and potentiators that promote channel activity, about 90%
Xinxiu Fang, Jiunn-Tyng Yeh, Tzyh-Chang Hwang, Tzyh-Chang Hwang   +3 more
openaire   +3 more sources

A Novel Co-Culture Model Reveals Enhanced CFTR Rescue in Primary Cystic Fibrosis Airway Epithelial Cultures with Persistent Pseudomonas aeruginosa Infection

Cells, 2023
People with cystic fibrosis (pwCF) suffer from chronic and recurring bacterial lung infections that begin very early in life and contribute to progressive lung failure.
Deborah M. Cholon, Matthew A. Greenwald, Matthew G. Higgs, Nancy L. Quinney, Susan E. Boyles, Suzanne L. Meinig, John T. Minges, Ashlesha Chaubal, Robert Tarran, Carla M. P. Ribeiro, Matthew C. Wolfgang, Martina Gentzsch   +11 more
doaj   +1 more source

CFTR Modulator Therapy for Rare CFTR Mutants

Journal of Respiration, 2022
Cystic fibrosis (CF), the most common genetic disease among the Caucasian population, is caused by mutations in the gene encoding for the CF transmembrane conductance regulator (CFTR), a chloride epithelial channel whose dysfunction results in severe airway obstruction and inflammation, eventually leading to respiratory failure.
Marco Mergiotti, Alessandra Murabito, Giulia Prono, Alessandra Ghigo   +3 more
openaire   +2 more sources