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Sponsored AI Networking Cookbook: Practical recipes for AI-assisted network automation and development AI Networking Cookbook: Practical recipes for AI-assisted network automation and development

Author

Sergey I. Kutsev

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Open access Oct 2026

CFTR Functional Rescue and Heterogeneous Clinical Outcomes Following Elexacaftor/Tezacaftor/Ivacaftor Therapy in People with Cystic Fibrosis Carrying the W1282R Variant

The clinical response to elexacaftor/tezacaftor/ivacaftor (ETI) in people with cystic fibrosis carrying the rare cystic fibrosis transmembrane conductance regulator (CFTR) variant W1282R has not been well characterized. We retrospectively analyzed 12 people with cystic fibrosis treated with ETI for 3–36 months in addit...

E. Kondratyeva, A. Efremova, Y. Melyanovskaya et al. · 0 citations
Oct 2026

Delineating the Phenotypic Spectrum of SLC26A2-related Skeletal Dysplasias in a Cohort of 115 Patients: Evidence for a Novel Complex Allele Modifying Disease Severity.

PURPOSE SLC26A2-related skeletal dysplasias range from recessive multiple epiphyseal dysplasia (rMED) to lethal atelosteogenesis type 2, but factors underlying clinical variability are not fully defined. This study aimed to delineate genotype-phenotype correlations and identify disease modifiers in the largest cohort r...

Daria Gorodilova, T. Markova, V. Kenis et al. · 0 citations
#gene editing Open access Sep 2026

Comparison of Prime Editing and CRISPR-Cas Mediated HDR in Correcting CFTR-F508del Mutation in Patient iPSC-Derived Airway Basal Cells

Functional analysis evaluating the effectiveness of gene editing revealed that prime editing of the F508del mutation in the CFTR gene—using the pegRNA4 combined with the PE2-NG variant—restores CFTR channel conductance, comparable to triple therapy with CFTR modulators.

O. Volodina, A. Demchenko, E. Kondrateva et al. · 0 citations
Review Open access Jul 2026

The Role of Autophagy in the Pathogenesis of Mitochondrial Diseases

Current understanding of how dysregulation of selective autophagy promotes the accumulation of damaged mitochondria, oxidative stress, inflammation, and cell death in mitochondrial diseases is systematised.

E. D. Avdonina, Sergey I. Kutsev, A. Shestopalov · 1 citation
Open access Aug 2026

Exploring the clinical and mutational spectrum of MORC2-associated disorders.

It is demonstrated that early-onset MORC2-associated disorders segregate into two principal neurological phenotypes: a predominantly neuromuscular form and a central nervous system-predominant form.

A. Murtazina, Eugenii Tatarsky, I. Viakhireva et al. · 0 citations

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