Results 41 to 50 of about 31,972 (221)

Investigating CFTR gene variations in patient groups with positive newborn screening test results and preliminary clinical diagnosis of cystic fibrosis in the eastern anatolia region of Turkey

Medicine Science, 2021
Cystic fibrosis (CF, OMIM: #219700), caused by biallelic pathogenic variations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, is the most common monogenic disease.
Ayberk Turkyilmaz, Oguzhan Yarali
doaj   +1 more source

Antibodies for CFTR studies [PDF]

Journal of Cystic Fibrosis, 2004
For most expression studies focusing on the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) protein, sensitive and specific antibodies (Abs) are critically needed. Several Abs have been produced commercially or by research laboratories for CFTR detection in both cell lines with heterologous or endogenous expression and native cells/tissues ...
Mendes, Filipa, Farinha, Carlos, Roxo-Rosa, Mónica, Fanen, Pascale, Edelman, Aleksander, Dormer, Robert, Mcpherson, Margaret, Davidson, Heather, Puchelle, Edith, de Jonge, Hugo, Heda, Ghanshyam, Gentzsch, Martina, Lukacs, Gergely, Penque, Deborah, Amaral, Margarida   +14 more
openaire   +4 more sources

Identifying transcription factors controlling the basal expression of human MRP4 highlights a substantial role for Sp1

FEBS Open Bio, EarlyView.
The MRP4 transporter exports several drugs and signaling molecules. Here, we identified key promoter elements regulating basal MRP4 expression. Using reporter assays, we defined a conserved region with essential Sp1 and contributory Ets sites, which controlled basal MRP4 expression.
Debora Singer, Angelique Kragl, Katrin Ziems, Juliane Glaubitz, Sophie Grammbauer, Susanne Hildebrandt, Mladen V. Tzvetkov, Gabriele Jedlitschky   +7 more
wiley   +1 more source

Elexacaftor–tezacaftor–ivacaftor enhances first-phase insulin secretion and improves glucose control in cystic fibrosis

Endocrine Connections
Objective: Cystic fibrosis (CF) is a congenital condition caused by mutations in the CF transmembrane conductance regulator (CFTR) gene. CF-related diabetes (CFRD) is a common comorbidity among people with CF (pwCF) and is associated with increased ...
Anna Edlund, Ulrika Lindberg, Katarina Fagher, Lisa I Påhlman   +3 more
doaj   +1 more source

Geographic distribution of cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in Saudi Arabia

International Journal of Pediatrics & Adolescent Medicine, 2021
Introduction: Cystic fibrosis (CF) has been reported before in Saudi Arabia and the Gulf area. It has been found that screening for 10 most common cystic fibrosis transmembrane conductance regulator (CFTR) mutations can detect 80% of positive CFTR cases.
Hanaa Banjar, Ibrahim Al-Mogarri, Imran Nizami, Sami Al-Haider, Talal AlMaghamsi, Sara Alkaf, Abdulaziz Al-Enazi, Nabil Moghrabi   +7 more
doaj   +1 more source

Localizing a gate in CFTR [PDF]

Proceedings of the National Academy of Sciences, 2015
Significance Cystic fibrosis transmembrane conductance regulator (CFTR), albeit a bona fide member of the ATP-binding cassette (ABC) transporter superfamily, is an ATP-gated chloride channel. However, phylogenetic analysis has led to a popular conjecture that CFTR evolves from a primordial ABC exporter by simply degenerating the cytoplasmic ...
Xiaolong, Gao, Tzyh-Chang, Hwang
openaire   +2 more sources

TDP‐43 Aggregation: The Healthy‐Toxic Balance of the Prion‐Like Domain

Advanced Science, EarlyView.
TDP‐43 function relies on a delicate balance between reversible phase‐separated states and irreversible aggregation. Under physiological conditions, TDP‐43 forms dynamic droplets and oligomers that support normal cellular functions. In pathological contexts, this balance shifts toward aberrant aggregation, leading to toxic species.
Luca Zangrando, Emanuele Buratti, Francesca Paron   +2 more
wiley   +1 more source

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

Expanding the Utility of Exome Sequencing in Preventive and Population Genetics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carrier screening is a long‐standing genetic testing process offered to at‐risk couples, with or without a family history, who might have pregnancies affected by an autosomal recessive (AR) or X‐linked (XL) disorder. A total of 276 unrelated individuals, initially referred for rare disorder screening by clinicians, were enrolled in this study ...
Charilaos Kostoulas, Athanasia Sesse, Ioanna Bouba, Robert Najdecki, Spyridon Konitsiotis, Sofia Markoula, Ioannis Georgiou   +6 more
wiley   +1 more source

CFTR Modulation Reduces SARS-CoV-2 Infection in Human Bronchial Epithelial Cells

Cells, 2022
People with cystic fibrosis should be considered at increased risk of developing severe symptoms of COVID-19. Strikingly, a broad array of evidence shows reduced spread of SARS-CoV-2 in these subjects, suggesting a potential role for CFTR in the ...
Virginia Lotti, Flavia Merigo, Anna Lagni, Andrea Di Clemente, Marco Ligozzi, Paolo Bernardi, Giada Rossini, Ercole Concia, Roberto Plebani, Mario Romano, Andrea Sbarbati, Claudio Sorio, Davide Gibellini   +12 more
doaj   +1 more source