scholarly journals A commentary on the novel complex allele [A238V;F508del] of the CFTR gene: clinical phenotype and possible implications for cystic fibrosis etiological therapies

2016 ◽  
Vol 61 (6) ◽  
pp. 471-472 ◽  
Author(s):  
Marco Lucarelli
Keyword(s):  
Cystic Fibrosis ◽  
Clinical Phenotype ◽  
Cftr Gene ◽  
The Novel ◽  
Novel Complex

The novel complex allele [A238V;F508del] of the CFTR gene: clinical phenotype and possible implications for cystic fibrosis etiological therapies

2016 ◽  
Vol 61 (6) ◽  
pp. 473-481 ◽  
Author(s):  
Anna Diana ◽  
Angela Maria Polizzi ◽  
Teresa Santostasi ◽  
Luigi Ratclif ◽  
Maria Giuseppina Pantaleo ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Clinical Phenotype ◽  
Cftr Gene ◽  
The Novel ◽  
Novel Complex

scholarly journals MutationTaster2021

2021 ◽  
Author(s):  
Robin Steinhaus ◽  
Sebastian Proft ◽  
Markus Schuelke ◽  
David N Cooper ◽  
Jana Marie Schwarz ◽  
...  
Keyword(s):  
Prediction Model ◽  
Clinical Phenotype ◽  
The Novel ◽  
User Friendliness ◽  
Major Overhaul ◽  
Splice Site Prediction ◽  
Disease Mutations ◽  
Many Sources ◽  
Variant Effect Prediction ◽  
Mutation Search

Abstract Here we present an update to MutationTaster, our DNA variant effect prediction tool. The new version uses a different prediction model and attains higher accuracy than its predecessor, especially for rare benign variants. In addition, we have integrated many sources of data that only became available after the last release (such as gnomAD and ExAC pLI scores) and changed the splice site prediction model. To more easily assess the relevance of detected known disease mutations to the clinical phenotype of the patient, MutationTaster now provides information on the diseases they cause. Further changes represent a major overhaul of the interfaces to increase user-friendliness whilst many changes under the hood have been designed to accelerate the processing of uploaded VCF files. We also offer an API for the rapid automated query of smaller numbers of variants from within other software. MutationTaster2021 integrates our disease mutation search engine, MutationDistiller, to prioritise variants from VCF files using the patient's clinical phenotype. The novel version is available at https://www.genecascade.org/MutationTaster2021/. This website is free and open to all users and there is no login requirement.

scholarly journals CFTR Cooperative Cis-Regulatory Elements in Intestinal Cells

2021 ◽  
Vol 22 (5) ◽  
pp. 2599
Author(s):  
Mégane Collobert ◽  
Ozvan Bocher ◽  
Anaïs Le Nabec ◽  
Emmanuelle Génin ◽  
Claude Férec ◽  
...  
Keyword(s):  
Gene Expression ◽  
Cystic Fibrosis ◽  
Gene Regulation ◽  
Genetic Diseases ◽  
Regulatory Elements ◽  
Cftr Gene ◽  
Intestinal Cells ◽  
Cooperative Effects ◽  
Cis Acting ◽  
Study Techniques

About 8% of the human genome is covered with candidate cis-regulatory elements (cCREs). Disruptions of CREs, described as “cis-ruptions” have been identified as being involved in various genetic diseases. Thanks to the development of chromatin conformation study techniques, several long-range cystic fibrosis transmembrane conductance regulator (CFTR) regulatory elements were identified, but the regulatory mechanisms of the CFTR gene have yet to be fully elucidated. The aim of this work is to improve our knowledge of the CFTR gene regulation, and to identity factors that could impact the CFTR gene expression, and potentially account for the variability of the clinical presentation of cystic fibrosis as well as CFTR-related disorders. Here, we apply the robust GWAS3D score to determine which of the CFTR introns could be involved in gene regulation. This approach highlights four particular CFTR introns of interest. Using reporter gene constructs in intestinal cells, we show that two new introns display strong cooperative effects in intestinal cells. Chromatin immunoprecipitation analyses further demonstrate fixation of transcription factors network. These results provide new insights into our understanding of the CFTR gene regulation and allow us to suggest a 3D CFTR locus structure in intestinal cells. A better understand of regulation mechanisms of the CFTR gene could elucidate cases of patients where the phenotype is not yet explained by the genotype. This would thus help in better diagnosis and therefore better management. These cis-acting regions may be a therapeutic challenge that could lead to the development of specific molecules capable of modulating gene expression in the future.

scholarly journals A Peptide-Nucleic Acid Targeting miR-335-5p Enhances Expression of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Gene with the Possible Involvement of the CFTR Scaffolding Protein NHERF1

Biomedicines ◽  
2021 ◽  
Vol 9 (2) ◽  
pp. 117
Author(s):  
Anna Tamanini ◽  
Enrica Fabbri ◽  
Tiziana Jakova ◽  
Jessica Gasparello ◽  
Alex Manicardi ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Nucleic Acid ◽  
Peptide Nucleic Acid ◽  
Stop Codon ◽  
Scaffolding Protein ◽  
Cftr Gene ◽  
Scaffolding Proteins ◽  
Transmembrane Conductance Regulator ◽  
Transmembrane Conductance ◽  
Cystic Fibrosis Transmembrane

(1) Background: Up-regulation of the Cystic Fibrosis Transmembrane Conductance Regulator gene (CFTR) might be of great relevance for the development of therapeutic protocols for cystic fibrosis (CF). MicroRNAs are deeply involved in the regulation of CFTR and scaffolding proteins (such as NHERF1, NHERF2 and Ezrin). (2) Methods: Content of miRNAs and mRNAs was analyzed by RT-qPCR, while the CFTR and NHERF1 production was analyzed by Western blotting. (3) Results: The results here described show that the CFTR scaffolding protein NHERF1 can be up-regulated in bronchial epithelial Calu-3 cells by a peptide-nucleic acid (PNA) targeting miR-335-5p, predicted to bind to the 3′-UTR sequence of the NHERF1 mRNA. Treatment of Calu-3 cells with this PNA (R8-PNA-a335) causes also up-regulation of CFTR. (4) Conclusions: We propose miR-335-5p targeting as a strategy to increase CFTR. While the efficiency of PNA-based targeting of miR-335-5p should be verified as a therapeutic strategy in CF caused by stop-codon mutation of the CFTR gene, this approach might give appreciable results in CF cells carrying other mutations impairing the processing or stability of CFTR protein, supporting its application in personalized therapy for precision medicine.

scholarly journals High lysosomal activities in cystic fibrosis tracheal gland cells corrected by adenovirus-mediated CFTR gene transfer

1999 ◽  
Vol 1453 (1) ◽  
pp. 14-22 ◽  
Author(s):  
W. Kammouni ◽  
D. Naı̈mi ◽  
W. Renaud ◽  
N. Bianco ◽  
C. Figarella ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Gene Transfer ◽  
Cftr Gene ◽  
Gland Cells

The Novel Complex[LRuIV(μ-O)3RuIVL][PF6]2·H2O–a Molecular Section of the Structures of BaRuIVO3(High-Pressure Phase) and Ba5/6Sr1/6RuIVO3

1989 ◽  
Vol 28 (6) ◽  
pp. 763-765 ◽  
Author(s):  
Peter Neubold ◽  
Beatriz S. P. C. Della Vedova ◽  
Karl Wieghardt ◽  
Bernd Nuber ◽  
Johannes Weiss
Keyword(s):  
High Pressure ◽  
High Pressure Phase ◽  
The Novel ◽  
Novel Complex ◽  
Pressure Phase

A Frequent Large Rearrangement in the CFTR Gene in Cystic Fibrosis Patients from Reunion Island

2006 ◽  
Vol 10 (3) ◽  
pp. 208-214 ◽  
Author(s):  
Juliette Nectoux ◽  
Marie Pierre Audrezet ◽  
Marion Viel ◽  
Chrystel Leroy ◽  
Odile Raguenes ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Cftr Gene ◽  
Reunion Island ◽  
Large Rearrangement ◽  
Réunion Island

Complete CFTR gene sequencing in 5,058 individuals with cystic fibrosis informs variant-specific treatment

2021 ◽  
Author(s):  
Karen S Raraigh ◽  
Melis A Aksit ◽  
Kurt Hetrick ◽  
Rhonda G Pace ◽  
Hua Ling ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Specific Treatment ◽  
Gene Sequencing ◽  
Cftr Gene
Sign in / Sign up

Export Citation Format

Share Document