Results 51 to 60 of about 81,604 (317)

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

Neumología 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

SLC26A Gene Family Participate in pH Regulation during Enamel Maturation. [PDF]

, 2015
The bicarbonate transport activities of Slc26a1, Slc26a6 and Slc26a7 are essential to physiological processes in multiple organs. Although mutations of Slc26a1, Slc26a6 and Slc26a7 have not been linked to any human diseases, disruption of Slc26a1 ...
Kurtz, Ira, Lacruz, Rodrigo S, Lei, Yuejuan, Paine, Michael L, Snead, Malcolm L, Soleimani, Manoocher, Wen, Xin, White, Shane N, Yin, Kaifeng   +8 more
core   +3 more sources

Pro-Secretory Activity and Pharmacology in Rabbits of an Aminophenyl-1,3,5-Triazine CFTR Activator for Dry Eye Disorders. [PDF]

, 2017
PurposePharmacological activation of ocular surface cystic fibrosis transmembrane conductance regulator (CFTR) chloride channels is a potential pro-secretory approach to treat dry eye disorders.
Felix, Christian M, Lee, Sujin, Levin, Marc H, Verkman, Alan S   +3 more
core   +2 more sources

RNA binding proteins PTBP1 and HNRNPL regulate CFTR mRNA decay

Heliyon, 2023
Background: CFTR nonsense alleles generate negligible CFTR protein due to the nonsense mutation: 1) triggering CFTR mRNA degradation by nonsense-mediated mRNA decay (NMD), and 2) terminating CFTR mRNA translation prematurely.
Amna Siddiqui, Arpit Saxena, Joshua Echols, Viktoria Havasi, Lianwu Fu, Kim M. Keeling   +5 more
doaj   +1 more source

Beyond the Surface: Novel Therapy Approach for Pancreatitis in the Setting of CFTR Dysfunction. [PDF]

Case Rep Gastrointest Med
Objectives Despite cystic fibrosis transmembrane conductance regulator (CFTR) proteins being present throughout the entire body and organ systems, typical presentation of cystic fibrosis (CF) involves lung disease. We report a series of individuals that were referred to our CF clinic for evaluation following a diagnosis of chronic pancreatitis or acute
Wright BA, Hodapp E, Hornick DB, Peña TA.   +3 more
europepmc   +2 more sources

Essential role of CFTR in PKA-dependent phosphorylation, alkalinization, and hyperpolarization during human dperm capacitation [PDF]

, 2017
Mammalian sperm require to spend a limited period of time in the female reproductive tract to become competent to fertilize in a process called capacitation.
Austin, Berger, Bobadilla, Buffone, Buffone, Buffone, Buffone, Chang, Chen, Chen, Chen, Chávez, Chávez, De Jonge, De La Vega-Beltran, Demarco, Diao, Dirami, Dostmann, Ellsworth, Escoffier, Esteves, Figueiras-Fierro, Gabriel, Gadsby, Hernández-González, Ishiguro, José, Kase, Kujala, Köhn, l'Hoste, Laemmli, Leclerc, Li, Lishko, Lochner, Luconi, López-González, Ma, Melis, Mortimer, Muanprasat, Navarrete, Neill, Nishigaki, Nolan, Okamura, Rode, Schulz, Sheppard, Sorum, Stival, Stival, Tabcharani, Tang, Towbin, Visconti, Visconti, Wennemuth, Wertheimer, Xu, Zeng, Zeng   +63 more
core   +1 more source

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

Biomolecules, 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, Tracy A. Stone, Christine E. Bear, Charles M. Deber   +3 more
doaj   +1 more source

Characterization of a disease-associated mutation affecting a putative splicing regulatory element in intron 6b of the cystic fibrosis transmembrane conductance regulator (CFTR) gene [PDF]

, 2009
Cystic fibrosis (CF) is a common recessive disorder caused by >1600 mutations in the CF transmembrane conductance regulator (CFTR) gene. About 13% of CFTR mutations are classified as “splicing mutations,” but for almost 40% of these, their role in ...
BAFFICO AM, CAO A, CORDA D, FAA' V, INCANI, FEDERICA, MASALA, MADDALENA, MELONI A, ROSATELLI, MARIA CRISTINA, SEIA M   +8 more
core   +1 more source

Cystic Fibrosis Polymorphic Variants in a Russian Population

Pharmacogenomics and Personalized Medicine, 2020
Anna Kiseleva,1,* Marina Klimushina,1,* Evgeniia Sotnikova,1,* Olga Skirko,1 Mikhail Divashuk,1,2 Olga Kurilova,1 Alexandra Ershova,1 Eleonora Khlebus,1 Anastasia Zharikova,1,3,4 Irina Efimova,1 Maria Pokrovskaya,1 Petr A Slominsky,5 Svetlana Shalnova,1 ...
Kiseleva A, Klimushina M, Sotnikova E, Skirko O, Divashuk M, Kurilova O, Ershova A, Khlebus E, Zharikova A, Efimova I, Pokrovskaya M, Slominsky PA, Shalnova S, Meshkov A, Drapkina O   +14 more
doaj  

Disruption of Interleukin-1β Autocrine Signaling Rescues Complex I Activity and Improves ROS Levels in Immortalized Epithelial Cells with Impaired Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Function [PDF]

, 2014
Patients with cystic fibrosis (CF) have elevated concentration of cytokines in sputum and a general inflammatory condition. In addition, CF cells in culture produce diverse cytokines in excess, including IL-1B. We have previously shown that IL-1B, at low
Clauzure, Mariangeles, Massip Copiz, María Macarena, Schulman, Gustavo, Teiber, Maria Luz, Tomás A. Santa-Coloma, Valdivieso, Ángel Gabriel   +5 more
core   +1 more source