Results 31 to 40 of about 81,604 (317)

Targeted therapies to improve CFTR function in cystic fibrosis [PDF]

, 2015
Cystic fibrosis is the most common genetically determined, life-limiting disorder in populations of European ancestry. The genetic basis of cystic fibrosis is well established to be mutations in the cystic fibrosis transmembrane conductance regulator ...
Brodlie, M, Elborn, JS, Haq, IJ, Roberts, K   +3 more
core   +2 more sources

Precision Medicine Based on CFTR Genotype for People with Cystic Fibrosis

Pharmacogenomics and Personalized Medicine, 2022
Iram Haq,1,2 Maryam Almulhem,1 Simone Soars,1 David Poulton,2,3 Malcolm Brodlie1,2 1Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK; 2Paediatric Respiratory Medicine, Great North ...
Haq I, Almulhem M, Soars S, Poulton D, Brodlie M   +4 more
doaj  

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

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

Cell 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, Yoshikazu Emi, Masao Sakaguchi   +2 more
doaj   +1 more source

A Case of Cystic Fibrosis in a Japanese Man With Congenital Bilateral Absence of the Vas Deferens and Recurrent Pancreatitis Caused by a Homozygous c.1210-11 T > G Variant of the Cystic Fibrosis Transmembrane Conductance Regulator Gene. [PDF]

Reprod Med Biol
ABSTRACT Case We herein report a rare case of a Japanese man diagnosed with cystic fibrosis (CF) following a workup for male infertility and recurrent pancreatitis and discuss the clinical and diagnostic implications in a population wherein CF is exceptionally rare. A 27‐year‐old Japanese man who presented with azoospermia underwent clinical evaluation,
Saito T, Kuroda S, Takeshima T, Kawahara T, Teranishi J, Karibe J, Anzai F, Tanoshima M, Makiyama K, Yumura Y.   +9 more
europepmc   +2 more sources

A Genotypic-oriented View of CFTR Genetics Highlights Specific Mutational Patterns Underlying Clinical Macro-categories of Cystic Fibrosis. [PDF]

, 2015
Cystic Fibrosis (CF) is a monogenic disease caused by mutations of the Cystic Fibrosis Transmembrane conductance Regulator (CFTR) gene. The genotype-phenotype relationship in this disease is still unclear, and diagnostic, prognostic and therapeutic ...
Amato, Annalisa, Bertasi, Serenella, Bruno, SABINA MARIA, Cimino, G., Ferraguti, Giampiero, Lucarelli, Marco, Narzi, Fabiana, Pierandrei, Silvia, Quattrucci, Serena, Stamato, Antonella, Strom, Roberto   +10 more
core   +1 more source

TAS2R38 is a novel modifer gene in patients with cystic fbrosis [PDF]

, 2020
The clinical manifestation of cystic fbrosis (CF) is heterogeneous also in patients with the same cystic fbrosis transmembrane regulator (CFTR) genotype and in afected sibling pairs.
Amato, F., Carnovale, V, Castaldo, A, Cernera, G, Cimbalo, C, Comegna, M, DI LULLO, ANTONELLA MIRIAM, Gelzo, M, Iacotucci, P, Raia, V, Tosco, A   +10 more
core   +1 more source

Cystic fibrosis, molecular genetics for all life

Journal of Pediatric and Neonatal Individualized Medicine, 2015
Cystic fibrosis (CF) is the most frequent lethal autosomal recessive disorder among Caucasians (incidence: 1:2,500 newborn). In the last two decades CF prognosis considerably improved and many patients well survive into their adulthood.
Ausilia Elce, Antonella Miriam Di Lullo, Felice Amato, Renato Liguori, Federica Zarrilli, Giuseppe Castaldo   +5 more
doaj   +1 more source

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

Clinical 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, Giuseppe Gullo, Gaspare Cucinella, Antonino Perino, Sofia Burgio, Andrea Etrusco, Veronica Agrigento, Serena Sclafani, Florinda Listi, Aurelio Maggio, Igea Vega, Antonio Simone Laganà, Amerigo Vitagliano, Marco Noventa, Giovanni Buzzaccarini   +14 more
doaj   +1 more source

CFTR-mutation specific applications of CFTR-directed monoclonal antibodies [PDF]

Journal of Cystic Fibrosis, 2013
Over the last decade novel monoclonal CFTR-specific antibodies have been developed. We here present a paired analysis to detect wild-type and mutant CFTR using Western blot analysis, flow cytometry and confocal microscopy in several cellular expression systems.The following CFTR-specific antibodies were used; 217, 432, 450, 570, 769, 596, 660, L12B4 ...
van Meegen, M.A., Terheggen, S.W.J., Koymans, K.J., Vijftigschild, L.A.W., Dekkers, J.F., van der Ent, C.K., Beekman, J.M.   +6 more
openaire   +2 more sources