The CFTR Gene Germline Heterozygous Pathogenic Variants in Russian Patients with Malignant Neoplasms and Healthy Carriers: 11,800 WGS Results
More than 275 million people in the world are carriers of a heterozygous mutation of the CFTR gene, associated with cystic fibrosis, the most common autosomal recessive disease among Caucasians. Some recent studies assessed the association between carriers of CFTR variants and some pathologies, incl...
Main Authors: | Baranova, E. (Author), Belenikin, M. (Author), Bodunova, N. (Author), Byakhova, M. (Author), Chernevskiy, D. (Author), Danishevich, A. (Author), Gadzhieva, S. (Author), Galkin, V. (Author), Khatkov, I. (Author), Krinitsina, A. (Author), Makarova, M. (Author), Nemtsova, M. (Author), Nikolaev, S. (Author), Sagaydak, O. (Author), Semenova, A. (Author), Vorontsova, M. (Author), Zhukova, L. (Author) |
---|---|
Format: | Article |
Language: | English |
Published: |
MDPI
2023
|
Subjects: | |
Online Access: | View Fulltext in Publisher View in Scopus |
Similar Items
-
Airway Epithelial Inflammation In Vitro Augments the Rescue of Mutant CFTR by Current CFTR Modulator Therapies
by: Martina Gentzsch, et al.
Published: (2021-03-01) -
The Impact of Highly Effective CFTR Modulators on Growth and Nutrition Status
by: Rosara Bass, et al.
Published: (2021-08-01) -
Evaluation of Fused Pyrrolothiazole Systems as Correctors of Mutant CFTR Protein
by: Virginia Spanò, et al.
Published: (2021-02-01) -
CFTR Lifecycle Map—A Systems Medicine Model of CFTR Maturation to Predict Possible Active Compound Combinations
by: Liza Vinhoven, et al.
Published: (2021-07-01) -
Phenotyping of Rare <i>CFTR</i> Mutations Reveals Distinct Trafficking and Functional Defects
by: Marjolein Ensinck, et al.
Published: (2020-03-01)