Prevalence of ∆F508 cystic fibrosis carriers in a Romanian population group

Prevalence of ∆F508 cystic fibrosis carriers in a Romanian population group

Bibliographic Details
Main Authors:	Osan Sergiu Nicolae, Hrapsa Iona, Coroama Constantin Ionut, Miclea Diana Laura, Al-Khzouz Camelia, Lazar Calin, Farcas Marius Florin
Format:	Article
Language:	English
Published:	Sciendo 2021-04-01
Series:	Romanian Journal of Laboratory Medicine
Online Access:	https://doi.org/10.2478/rrlm-2021-0009

Similar Items

Decoding F508del Misfolding in Cystic Fibrosis
by: Xiaodong Robert Wang, et al.
Published: (2014-05-01)

P.F508del editing in cells from cystic fibrosis patients.
by: Svetlana A Smirnikhina, et al.
Published: (2020-01-01)

Cellular events contributing to the F508 cystic fibrosis phenotype and its pathogenesis
by: Kempster, Lee
Published: (2002)

Impact of MIF gene promoter polymorphism on F508del cystic fibrosis patients.
by: Paola Melotti, et al.
Published: (2014-01-01)

Screening for F508del as a first step in the molecular diagnosis of cystic fibrosis
by: Fernando Augusto de Lima Marson, et al.
Published: (2013-06-01)

Azithromycin reduces spontaneous and induced inflammation in ΔF508 cystic fibrosis mice
by: Lison Dominique, et al.
Published: (2006-10-01)

Nutrional status and dietary factors in cystic fibrosis patients with delta F508 mutation
by: Carina de Sousa SANTOS, et al.
Published: (2015-08-01)

The Roles of miRNA in Glioblastoma Tumor Cell Communication: Diplomatic and Aggressive Negotiations
by: Andrei Buruiană, et al.
Published: (2020-03-01)

Elexacaftor–Tezacaftor–Ivacaftor Therapy for Cystic Fibrosis Patients with The F508del/Unknown Genotype
by: Marika Comegna, et al.
Published: (2021-07-01)

Resveratrol increases F508del-CFTR dependent salivary secretion in cystic fibrosis mice
by: Barbara Dhooghe, et al.
Published: (2015-07-01)

Calpain inhibition promotes the rescue of F(508)del-CFTR in PBMC from cystic fibrosis patients.
by: Monica Averna, et al.
Published: (2013-01-01)

p.F508del in a heterogeneous cystic fibrosis population from Minas Gerais, Brazil
by: P.V.T. Vidigal, et al.
Published: (2008-08-01)

Ouabain mimics low temperature rescue of F508del-CFTR in cystic fibrosis epithelial cells
by: Donglei eZhang, et al.
Published: (2012-10-01)

Modulation of proteostasis for the efficient intracellular transport of the AF508 mutant of cystic fibrosis transmembrane conductance regulator
by: Hegde, Ramanath Narayana
Published: (2013)

SFPQ rescues F508del-CFTR expression and function in cystic fibrosis bronchial epithelial cells
by: Parameet Kumar, et al.
Published: (2021-08-01)

Case report: Three adult brothers with cystic fibrosis (delF508-delF508) maintain unusually preserved clinical profile in the absence of standard CF care
by: Clark T. Bishop
Published: (2021-01-01)

Unravelling the Regions of Mutant F508del-CFTR More Susceptible to the Action of Four Cystic Fibrosis Correctors
by: Giulia Amico, et al.
Published: (2019-11-01)

Phenotype and Genotype of Two Taiwanese Cystic Fibrosis Siblings and a Survey of Delta F508 in East Asians
by: Chao-Jen Lin, et al.
Published: (2008-12-01)

Drug-discovery tools for cystic fibrosis : optical probes to quantify gating and trafficking of ΔF508-CFTR
by: Langron, E.
Published: (2016)

Integrative chemogenomic analysis identifies small molecules that partially rescue ΔF508‐CFTR for cystic fibrosis
by: Rachel A. Hodos, et al.
Published: (2021-05-01)

Integrative genomic meta-analysis reveals novel molecular insights into cystic fibrosis and ΔF508-CFTR rescue
by: Rachel A. Hodos, et al.
Published: (2020-11-01)

Assessment of p.Phe508del-CFTR functional restoration in pediatric primary cystic fibrosis airway epithelial cells.
by: Erika N Sutanto, et al.
Published: (2018-01-01)

The CFTR-Associated Ligand Arrests the Trafficking of the Mutant ΔF508 CFTR Channel in the ER Contributing to Cystic Fibrosis
by: Emily Bergbower, et al.
Published: (2018-01-01)

Clinical development of triple-combination CFTR modulators for cystic fibrosis patients with one or two F508del alleles
by: Jennifer L. Taylor-Cousar, et al.
Published: (2019-06-01)

Analysis of the DF508 mutation in a Brazilian cystic fibrosis population: comparison of pulmonary status of homozygotes with other patients
by: Maróstica P.J.C., et al.
Published: (1998-01-01)

DeltaF508 CFTR Hetero- and Homozygous Paediatric Patients with Cystic Fibrosis Do Not Differ with Regard to Nutritional Status
by: Aleksandra Mędza, et al.
Published: (2021-04-01)

Characterization of two rat models of cystic fibrosis—KO and F508del CFTR—Generated by Crispr‐Cas9
by: Elise Dreano, et al.
Published: (2019-12-01)

THE UNIKM PROJECT: COMPARATIVE RESEARCHES CONCERNING KNOWLEDGE MANAGEMENT IN ROMANIAN ENGINEERING EDUCATION
by: BABAN Calin Florin, et al.
Published: (2011-05-01)

Antenatal carrier screening for cystic fibrosis
by: Miedzybrodzka, Zofia Helena
Published: (1995)

Prevalência da mutação ΔF508 no gene cystic fibrosis transmembrane conductance regulator em pacientes com fibrose cística em um centro de referência no Brasil Prevalence of ΔF508 mutation in the cystic fibrosis transmembrane conductance regulator gene among cystic fibrosis patients from a Brazilian referral center
by: Andréia Marisa Bieger, et al.
Published: (2012-12-01)

Dendrimer-based selective autophagy-induction rescues ΔF508-CFTR and inhibits Pseudomonas aeruginosa infection in cystic fibrosis.
by: Scott Mackenzie Brockman, et al.
Published: (2017-01-01)

Sheep models of F508del and G542X cystic fibrosis mutations show cellular responses to human therapeutics
by: Iuri Viotti Perisse, et al.
Published: (2021-10-01)

KNOWLEDGE MANAGEMENT PRIORITIES IN HIGHER EDUCATION: AN INSIGHT FROM A ROMANIAN ACADEMIC RESEARCH CONSORTIUM
by: BABAN Calin Florin, et al.
Published: (2013-11-01)

Facing Irregularities in Sport: Whistleblowing and Watchdog Journalism. The Romanian Case
by: Constantin Pompiliu-Nicolae, et al.
Published: (2019-12-01)

The cystic-fibrosis-associated ΔF508 mutation confers post-transcriptional destabilization on the C. elegans ABC transporter PGP-3
by: Liping He, et al.
Published: (2012-11-01)

Generation of two induced pluripotent stem cell (iPSC) lines from p.F508del Cystic Fibrosis patients
by: Aarne Fleischer, et al.
Published: (2018-05-01)

Genetic modification of cystic fibrosis with ΔF508 mutation of CFTR gene using the CRISPR system in peripheral blood mononuclear cells
by: Sepideh Khatibi, et al.
Published: (2021-01-01)

Effectiveness of Elexacaftor/Tezacaftor/Ivacaftor Therapy in Three Subjects with the Cystic Fibrosis Genotype Phe508del/Unknown and Advanced Lung Disease
by: Vito Terlizzi, et al.
Published: (2021-07-01)

Evaluation of eluforsen, a novel RNA oligonucleotide for restoration of CFTR function in in vitro and murine models of p.Phe508del cystic fibrosis.
by: Wouter Beumer, et al.
Published: (2019-01-01)

Impact of a Gap Junction Protein Alpha 4 Variant on Clinical Disease Phenotype in F508del Homozygous Patients With Cystic Fibrosis
by: Tabea Horn, et al.
Published: (2020-10-01)