Results 1 to 10 of about 71,182 (159)

Reconstitution of CFTR ubiquitination identifies lysine-420 as a regulator of cell surface residence and current [PDF]

Biochemistry and Biophysics Reports
Background: The most common loss-of-function mutation in the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR) is F508del. The misfolded F508del-CFTR protein is targeted for endoplasmic reticulum associated degradation (ERAD ...
Jennifer L. Goeckeler-Fried, Xuemei Zeng, Jeong S. Hong, Disha Joshi, Zhengrong Yang, Fan Jiang, John C. Kappes, Eric J. Sorscher, Jeffrey L. Brodsky   +8 more
doaj   +2 more sources

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]

مجله 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, Maryam Mehdi Sasan, Zahra Shahpouri Arani, Mahin Baratvand, Hashem Kazemi   +4 more
doaj   +1 more source

Functional interplay between CFTR and pendrin: physiological and pathophysiological relevance

Frontiers 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

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

The 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  

Mycobacteriophage–antibiotic therapy promotes enhanced clearance of drug-resistant Mycobacterium abscessus

Disease Models & Mechanisms, 2021
Infection by multidrug-resistant Mycobacterium abscessus is increasingly prevalent in cystic fibrosis (CF) patients, leaving clinicians with few therapeutic options.
Matt D. Johansen, Matthéo Alcaraz, Rebekah M. Dedrick, Françoise Roquet-Banères, Claire Hamela, Graham F. Hatfull, Laurent Kremer   +6 more
doaj   +1 more source

Mummichog gill and operculum exhibit functionally consistent claudin-10 paralog profiles and Claudin-10c hypersaline response

Biology Open, 2021
Claudin (Cldn)-10 tight junction (TJ) proteins are hypothesized to form the paracellular Na+ secretion pathway of hyposmoregulating mummichog (Fundulus heteroclitus) branchial epithelia.
Chun Chih Chen, William S. Marshall, George N. Robertson, Regina R. F. Cozzi, Scott P. Kelly   +4 more
doaj   +1 more source

FUNCIÓN PULMONAR EN FIBROSIS QUÍSTICA

Neumología Pediátrica, 2022
La fibrosis quística (FQ) es una enfermedad hereditaria autosómica recesiva, causada por la mutación del gen que codifica la proteína CFTR (cystic fibrosis transmembrane conductance regulator), afecta varios órganos, pero la enfermedad pulmonar es la ...
Hortensia Barrientos
doaj   +1 more source

Sinus Disease Grading on Computed Tomography Before and After Modulating Therapy in Adult Patients with Cystic Fibrosis

Journal of the Belgian Society of Radiology, 2022
Objectives: Cystic fibrosis transmembrane conductance regulator (CFTR) modulator therapy effects on respiratory function, pulmonary exacerbations and quality of life have been well documented. However, CFTR modulator therapy effects on sinus disease have
Corrado Tagliati, Stefano Pantano, Giuseppe Lanni, Davide Battista, Matteo Marcucci, Marco Fogante, Giulio Argalia, Enrico Paci, Gabriella Lucidi Pressanti, Mingliang Ying, Pietro Ripani   +10 more
doaj   +1 more source

Angiotensin(1–7) activates MAS-1 and upregulates CFTR to promote insulin secretion in pancreatic β-cells: the association with type 2 diabetes

Endocrine Connections, 2022
Objective: The beneficial effect of angiotensin(1–7) (Ang(1–7)), via the ac tivation of its receptor, MAS-1, has been noted in diabetes treatment; however, how Ang(1–7) or MAS-1 affects insulin secretion remains elusive and whether the endoge nous level ...
Xue-Lian Zhang, Xinyi Zhao, Yong Wu, Wen-qing Huang, Jun-jiang Chen, Peijie Hu, Wei Liu, Yi-Wen Chen, Jin Hao, Rong-Rong Xie, Hsiao Chang Chan, Ye Chun Ruan, Hui Chen, Jinghui Guo   +13 more
doaj   +1 more source

Vardenafil increases intracellular accumulation of the most prevalent mutant cystic fibrosis transmembrane conductance regulator (CTFR) in human bronchial epithelial cells

Biology Open, 2020
Cystic fibrosis (CF) is a genetic disease characterized by progressive lung and chronic digestive manifestations. We have shown that therapeutic doses of vardenafil, a phosphodiesterase type 5 (PDE5) inhibitor, corrects CF Transmembrane conductance ...
Barbara Dhooghe, Caroline Bouzin, Angélique Mottais, Emmanuel Hermans, Martial Delion, Nadtha Panin, Sabrina Noel, Teresinha Leal   +7 more
doaj   +1 more source