Results 1 to 10 of about 11,309 (133)

Exposure to CFTR Modulators During Pregnancy in Cystic Fibrosis: Four Cases to Highlight Neonatal Diagnostic Challenges and Outcomes [PDF]

International Journal of Neonatal Screening
CFTR modulators have transformed the clinical evolution of patients with CF. The number of pregnancies is increasing in women with CF, most of whom are now treated with CFTR modulators such as elexacaftor/tezacaftor/ivacaftor (ETI) or Tezacaftor ...
Louis Domenach, Adrien Pagin, Camille Cisterne, Marie-Pierre Audrezet, Laure Couderc, Laetitia Monteil, Léa Roditis, Marlène Murris, Julie Macey, Michael Fayon, Stéphanie Bui, Marie-Pierre Reboul   +11 more
doaj   +2 more sources

Cystic Fibrosis and CFTR Modulators: The Impact on Bone Density, Muscle Mass and Strength in Children and Young Adolescents [PDF]

Children
Background/Objectives: Cystic fibrosis (CF) is a multisystemic and genetic disorder. Mutations in the CF transmembrane conductance regulator (CFTR) gene impair the function of the CFTR protein, leading to various complications in multiple organs, mainly ...
Katerina Iordanidou, Nikolaos D. Karakousis, Elpis Hatziagorou, Elisavet-Anna Chrysochoou, Maria Galogavrou, Athina Sopiadou, Maria Papagianni   +6 more
doaj   +2 more sources

Treatment with CFTR Modulators for Cystic Fibrosis: What a Pediatric Gastroenterologist Needs to Know [PDF]

Children
Background: Cystic fibrosis (CF) is a multisystemic disorder caused by CFTR gene mutations, leading to impaired protein function and affecting pulmonary, gastrointestinal, hepatobiliary, skeletal, and nutritional health.
David Gonzalez Jimenez, Ruth García Romero, Alejandro Rodríguez Martínez, Saioa Vicente Santamaria   +3 more
doaj   +2 more sources

CFTR Modulators Counteract F508del CFTR Functional Defects in a Pancreatic Epithelial Model of Cystic Fibrosis [PDF]

Life
Cystic fibrosis is a multisystem disorder caused by mutations in the CFTR gene that lead to impaired ion and fluid transport across secretory epithelia.
Alessandra Ludovico, Debora Baroni
doaj   +2 more sources

Unraveling the Mechanism of Action, Binding Sites, and Therapeutic Advances of CFTR Modulators: A Narrative Review [PDF]

Current Issues in Molecular Biology
Cystic fibrosis (CF) is a recessive genetic disease caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) protein, a chloride and bicarbonate channel localized on the plasma membrane of epithelial cells.
Debora Baroni
doaj   +2 more sources

Impact of CFTR modulators on exercise capacity in adolescents with cystic fibrosis [PDF]

ERJ Open Research
Background Exercise capacity is an independent predictor of clinical worsening in cystic fibrosis (CF). There is limited evidence of the impact of cystic fibrosis transmembrane conductance regulator (CFTR) modulators on exercise capacity in children with
Molla Imaduddin Ahmed, Naomi Dayman, Natalie Blyth, Joe Madge, Erol Gaillard   +4 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

Medication adherence to CFTR modulators in patients with cystic fibrosis: a systematic review [PDF]

European Respiratory Review
Background In the last decade, a fundamental shift in the treatment of cystic fibrosis (CF) took place due to the introduction of CF transmembrane conductance regulator (CFTR) modulators.
Carina M.E. Hansen, Anna J. Breukelman, Patricia M.L.A. van den Bemt, Annelies M. Zwitserloot, Liset van Dijk, Job F.M. van Boven   +5 more
doaj   +2 more sources

Mitochondrial Fragmentation Induced by the CFTR Modulators Lumacaftor and Ivacaftor in Immortalized Cystic Fibrosis Cell Lines [PDF]

Cells
Cystic fibrosis (CF) is an autosomal recessive disease caused by mutations in the CFTR gene, which encodes a cAMP-activated chloride channel essential for epithelial function.
Camila Dib, Pablo A. Iglesias González, María de los Ángeles Aguilar, Guillermo L. Taminelli, Tatiana Limpias del Valle, Nadia E. Nuñez, Analía G. Karadayian, Tomás A. Santa-Coloma, Ángel G. Valdivieso   +8 more
doaj   +2 more sources

Epithelial responses to CFTR modulators are improved by inflammatory cytokines and impaired by antiinflammatory drugs [PDF]

JCI Insight
Cystic fibrosis (CF) is a genetic disorder that disrupts CF transmembrane conductance regulator (CFTR) anion channels and impairs airway host defenses. Airway inflammation is ubiquitous in CF, and suppressing it has generally been considered to improve ...
Tayyab Rehman, Alejandro A. Pezzulo, Andrew L. Thurman, Rachel L. Zemans, Michael J. Welsh   +4 more
doaj   +2 more sources