В МГНЦ представили наиболее значимые научные публикации сотрудников Центра за 2023 год
Отобранные статьи опубликованы в журналах с высоким импакт-фактором и показывают принципиально новые достижения этого года:
- «Trisomies Reorganize Human 3D Genome»
https://www.mdpi.com/1422-0067/24/22/16044 - «Genetic heterogeneity of X-linked ichthyosis in the Republic of North Ossetia - Alania, case series report»
https://www.mdpi.com/1422-0067/24/5/4515 - «Airway and lung organoids from human-induced pluripotent stem cells can be used to assess CFTR conductance»
https://www.mdpi.com/1422-0067/24/7/6293 - «Replication stress causes delayed mitotic entry and chromosome 12 fragility at the ANKS1B large neuronal gene in human induced pluripotent stem cells»
https://link.springer.com/article/10.1007/s10577-023-09729-5 - «Leigh Syndrome: spectrum of molecular defects and clinical features in Russia»
https://pubmed.ncbi.nlm.nih.gov/36675121/ - «Extracellular vesicles of human glial cells exert neuroprotective effects via brain miRNA modulation in a rat model of traumatic brain injury
https://www.nature.com/articles/s41598-023-47627-2 - «Clinical characterization of Alagille syndrome in patients with cholestatic liver disease»
https://www.mdpi.com/1422-0067/24/14/11758 - «DNA methylation and prospects for predicting the therapeutic effect of neoadjuvant chemotherapy for triple-negative and luminal B breast cancer»
https://www.mdpi.com/2072-6694/15/5/1630 - «Deciphering the impact of coding and non-coding SCN1A gene variants on RNA splicing»
https://doi.org/10.1093/brain/awad383 - «Phenotype and natural history of mitochondrial membrane protein-associated neurodegeneration»
https://doi.org/10.1093/brain/awad35 - «Molecular genetic analysis of RPE65-associated forms of inherited retinal degenerations in the Russian Federation»
https://www.mdpi.com/2073-4425/14/11/2056 - «Annotation of uORFs in the OMIM genes allows to reveal pathogenic variants in 5′UTRs»
https://doi.org/10.1093/nar/gkac1247