Results 1 to 10 of about 2,418 (178)

A conserved WXXE motif is an apical delivery determinant of ABC transporter C subfamily isoforms

open access: yesCell Structure and Function, 2023
ATP-binding cassette transporter isoform C7 (ABCC7), also designated as cystic fibrosis transmembrane conductance regulator (CFTR), is exclusively targeted to the apical plasma membrane of polarized epithelial cells.
Md Shajedul Haque   +2 more
doaj   +1 more source

Cystic Fibrosis assessment in infertile couples: genetic analysis trough the Next Generation Sequencing technique

open access: yesClinical and Experimental Obstetrics & Gynecology, 2022
Background: Cystic Fibrosis (CF) is a genetic disease which is responsible for different systemic conditions. In particular, CF could be responsible for infertility, especially in the male partner due to congenital bilateral absence of vas deferens ...
Elena D’Alcamo   +14 more
doaj   +1 more source

A dos metros de ti/Five Feet Apart (2019) de Justin Baldoni

open access: yesRevista de Medicina y Cine / Journal of Medicine and Movies, 2022
El cine es una efectiva herramienta de enseñanza - aprendizaje que permite ilustrar desde diversos enfoques los procesos complejos de la enfermedad. En este artículo hacemos hincapié sobre estas herramientas educativas que nos brinda la película A dos ...
Natalia Bailon-Moscoso   +5 more
doaj   +1 more source

USO DE EXACAFTOR/ TEZACAFTOR /IVACAFTOR EN PACIENTES CON FIBROSIS QUÍSTICA POST-TRASPLANTE PULMONAR

open access: yesNeumología Pediátrica, 2023
El uso de moduladores de CFTR en pacientes con fibrosis quística post trasplante pulmonar es un tema todavía controversial. Varias publicaciones reportan los beneficios del modulador elexacaftor/tezacaftor/ivacaftor en los síntomas extrapulmonares de la ...
Pablo Jorquera Pinto
doaj   +1 more source

Investigating the Genetic Sequence of Exons and Exon-intron Junction Sequences of CFTR Gene by PCR Method in Families Suspected of Cystic Fibrosis in Khuzestan Province [PDF]

open access: yesمجله دانشکده پزشکی اصفهان, 2023
Background: Cystic fibrosis is one of the most fatal multisystem disorders and the most common autosomal recessive disease in the white population, which occurs due to mutations in cystic fibrosis membrane regulatory proteins (CFTR).
Leili Delfi Fallah   +4 more
doaj   +1 more source

Functional interplay between CFTR and pendrin: physiological and pathophysiological relevance

open access: yesFrontiers in Bioscience-Landmark, 2022
The transport of chloride and bicarbonate across epithelia controls the pH and volume of the intracellular and luminal fluids, as well as the systemic pH and vascular volume.
Grazia Tamma, Silvia Dossena
doaj   +1 more source

Anti-Infectives Restore ORKAMBI® Rescue of F508del-CFTR Function in Human Bronchial Epithelial Cells Infected with Clinical Strains of P. aeruginosa

open access: yesBiomolecules, 2020
Chronic infection and inflammation are the primary causes of declining lung function in Cystic Fibrosis (CF) patients. ORKAMBI® (Lumacaftor-Ivacaftor) is an approved combination therapy for Cystic Fibrosis (CF) patients bearing the most common ...
Onofrio Laselva   +3 more
doaj   +1 more source

Liver disease in cystic fibrosis patients in a tertiary care center in Saudi Arabia

open access: yesInternational Journal of Pediatrics & Adolescent Medicine, 2022
Background: Internationally, Cystic fibrosis-associated liver disease (CFLD) is considered the third leading cause of death, following lung disease and transplantation complications.
Hanaa Banjar   +7 more
doaj   +1 more source

The first report on CFTR mutations of meconium ileus in cystic fibrosis population in Saudi Arabia: A single center review

open access: yesInternational Journal of Pediatrics & Adolescent Medicine, 2022
Introduction: Meconium ileus (MI) is one of the most common causes of intestinal obstruction in newborns. It is the earliest clinical manifestation of cystic fibrosis (CF). MI is suspected if a baby fails to pass meconium shortly after birth and develops
Hanaa Banjar   +4 more
doaj   +1 more source

Analysis of Ivacaftor drug approval for cystic fibrosis patients with gating mutations. [PDF]

open access: yesThe Young Researcher, 2021
Cystic fibrosis is an inherited monogenetic disorder that leads to chronic respiratory and lung infections. These infections result in decreased quality of life in patients.
Nemirajaiah, S.
doaj  

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