Identification of a novel large deletion and other copy number variations in the CFTR gene in patients with Cystic Fibrosis from a multiethnic population

ConclusionOur results highlight the importance of screening for large rearrangements in CF cases with no or only oneCFTR mutation defined.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research

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Cystic fibrosis (CF) is a multiorgan progressive genetic disease caused by loss of functional cystic fibrosis transmembrane conductance regulator (CFTR) channel. Previously, we identified a significant dysfunction in CF cells and model mice of the transcription factor nuclear factor E2–related factor-2 (Nrf2), a major regulator of redox balance and inflammatory signaling. Here we report that the approved F508del CFTR correctors VX809 and VX661 recover diminished Nrf2 function and colocalization with CFTR in CF human primary bronchial epithelia by proximity ligation assay, immunoprecipitation, and immunofluorescence, ...
Source: Journal of Clinical Investigation - Category: Biomedical Science Authors: Source Type: research
Authors: Maiuri L, Raia V, Piacentini M, Tosco A, Villella VR, Kroemer G Abstract Cystic Fibrosis (CF) is the most frequent lethal monogenetic disease affecting humans. CF is characterized by mutations in cystic fibrosis transmembrane conductance regulator (CFTR), a chloride channel whose malfunction triggers the activation of transglutaminase-2 (TGM2), as well as the inactivation of the Beclin-1 (BECN1) complex resulting in disabled autophagy. CFTR inhibition, TGM2 activation and BECN1 sequestration engage in an 'infernal trio' that locks the cell in a pro-inflammatory state through anti-homeostatic feedforward lo...
Source: Oncotarget - Category: Cancer & Oncology Tags: Oncotarget Source Type: research
űs T Abstract Cystic fibrosis (CF), a lethal monogenic disease, is caused by pathogenic variants of the CFTR chloride channel. The majority of CF mutations affect protein folding and stability leading overall to diminished apical anion conductance of epithelial cells. The recently published cryo-EM structures of full-length human and zebrafish CFTR provide a good model to gain insight into structure-function relationships of CFTR variants. Although, some of the structures were determined in the phosphorylated and ATP-bound active state, none of the static structures showed an open pathway for chloride permeation....
Source: Cellular and Molecular Life Sciences : CMLS - Category: Cytology Authors: Tags: Cell Mol Life Sci Source Type: research
Condition:   Confirmed Diagnosis of Cystic Fibrosis Intervention:   Other: no intervention Sponsors:   University Hospital Inselspital, Berne;   University Children's Hospital, Zurich;   Centre Hospitalier Universitaire Vaudois;   Kantonsspital Aarau;   University Children's Hospital Basel Recruiting
Source: - Category: Research Source Type: clinical trials
SAN JOSE, Calif., July 19, 2019 -- (Healthcare Sales &Marketing Network) -- Aridis Pharmaceuticals, Inc. (Nasdaq: ARDS) announced today that the European Medicines Agency (EMA) has granted Orphan Drug Designation to AR-501, the Company's inhaled formulat... Biopharmaceuticals, Regulatory Aridis Pharmaceuticals, gallium citrate, cystic fibrosis
Source: HSMN NewsFeed - Category: Pharmaceuticals Source Type: news
FRIDAY, July 19, 2019 -- For patients with cystic fibrosis (CF), ivacaftor use is associated with a reduction in pathogens, including Pseudomonas aeruginosa, according to a study published online July 19 in the Annals of the American Thoracic...
Source: - Pharma News - Category: Pharmaceuticals Source Type: news
5T polymorphism is a CFTR mutation with unclear clinical consequences: the phenotype varies from healthy individuals to Cystic Fibrosis (CF). The aim of this study was to evaluate if nasal potential difference (NPD) and sweat testing correlate with symptoms and CF diagnosis in 5T patients.
Source: Journal of Cystic Fibrosis - Category: Respiratory Medicine Authors: Tags: Original Article Source Type: research
Notice NOT-DK-19-023 from the NIH Guide for Grants and Contracts
Source: NIH Funding Opportunities (Notices, PA, RFA) - Category: Research Source Type: funding
Conditions:   Cystic Fibrosis;   Nontuberculous Mycobacterium Infection Intervention:   Other: Epidemiologic investigation Sponsors:   National Jewish Health;   Cystic Fibrosis Foundation Recruiting
Source: - Category: Research Source Type: clinical trials
Introduction Non-cystic fibrosis (CF) bronchiectasis ("bronchiectasis") is a chronic airway disease for which little data exist to inform treatment decisions. We sought to compare the risks of respiratory infections in chronic users of inhaled corticosteroids (ICSs) versus macrolide monotherapy. Methods We identified a cohort of US Medicare enrollees with a bronchiectasis diagnosis (International Classification of Diseases, Ninth Revision, Clinical Modification code 494.0 or 494.1) between 2006 and 2014, excluding CF. We defined chronic new use as the first ≥28-day prescription of ICS therapy or macrolide mon...
Source: European Respiratory Journal - Category: Respiratory Medicine Authors: Tags: CF and non-CF bronchiectasis Original Articles: Bronchiectasis Source Type: research
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