日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Optimized ND4 allotopic expression for gene therapy of Leber's hereditary optic neuropathy

优化ND4异位表达用于治疗莱伯氏遗传性视神经病变

Lapshin, Evgeniy V; Egorov, Alexander D; Malogolovkin, Alexander S; Gasanov, Nizami B; Smirnikhina, Svetlana A; Tabakov, Vyacheslav Yu; Karabelsky, Alexander V

Exploring the Phenotypic Heterogeneity and Bioenergetic Profile of the m.13513G>A mtDNA Substitution: A Heteroplasmy Perspective

从异质性视角探索m.13513G>A mtDNA替换的表型异质性和生物能量学特征

Krylova, Tatiana; Itkis, Yulia; Tsygankova, Polina; Chistol, Denis; Lyamzaev, Konstantin; Tabakov, Vyacheslav; Mikhaylova, Svetlana; Nikitina, Natalia; Rudenskaya, Galina; Murtazina, Aysylu; Markova, Tatiana; Semenova, Natalia; Buchinskaya, Natalia; Saifullina, Elena; Aksyanova, Hasyanya; Sparber, Peter; Andreeva, Natalia; Venediktova, Natalia; Ivanushkina, Alina; Eliseeva, Daria; Murakhovskaya, Yulia; Sheremet, Natalia; Zakharova, Ekaterina

Prime Editing Modification with FEN1 Improves F508del Variant Editing in the CFTR Gene in Airway Basal Cells.

利用 FEN1 进行 Prime Editing Modification 可改善气道基底细胞中 CFTR 基因的 F508del 变异体编辑

Volodina Olga V, Demchenko Anna G, Anuchina Arina A, Ryzhkova Oxana P, Kovalskaya Valeriia A, Kondrateva Ekaterina V, Artemova Ekaterina V, Tabakov Vyacheslav Y, Ignatov Maxim A, Vorobyeva Natalia Y, Osipov Andreyan N, Lavrov Alexander V, Smirnikhina Svetlana A

Functional Analysis of Complex Structural and Splice-Altering Variants in the ARSB Gene Towards the Personalized Antisense-Based Therapy for Mucopolysaccharidosis Type VI Patients

对ARSB基因中复杂结构和剪接改变变异体的功能分析,旨在为粘多糖贮积症VI型患者提供个性化的反义疗法

Bychkov, Igor; Filatova, Alexandra; Baydakova, Galina; Sikora, Nataliya; Garifullina, Emiliya; Bykova, Anna; Tabakov, Vyacheslav; Skretnev, Alexandr; Skoblov, Mikhail; Zakharova, Ekaterina

The Missing Piece of the Puzzle: Unveiling the Role of PTPN11 Gene in Multiple Osteochondromas in a Large Cohort Study.

拼图缺失的一环:一项大型队列研究揭示了 PTPN11 基因在多发性骨软骨瘤中的作用

Borovikov Artem, Galeeva Nailya, Marakhonov Andrey, Murtazina Aysylu, Kadnikova Varvara, Davydenko Kseniya, Orlova Anna, Sparber Peter, Markova Tatiana, Orlova Maria, Osipova Darya, Nagornova Tatyana, Semenova Natalia, Levchenko Olga, Filatova Alexandra, Sharova Margarita, Vasiluev Peter, Kanivets Ilya, Pyankov Denis, Sharkov Artem, Udalova Vasilisa, Kenis Vladimir, Nikitina Natalia, Sumina Maria, Zherdev Konstantin, Petel'guzov Aleksandr, Chelpachenko Oleg, Zubkov Pavel, Dan Ivan, Snetkov Andrey, Akinshina Alexandra, Buklemishev Yury, Ryzhkova Oxana, Tabakov Vyacheslav, Zakharova Ekaterina, Korostelev Sergey, Zinchenko Rena, Skoblov Mikhail, Polyakov Alexander, Dadali Elena, Kutsev Sergey, Shchagina Olga

The Genetic Basis of the First Patient with Wiedemann-Rautenstrauch Syndrome in the Russian Federation

俄罗斯联邦首例维德曼-劳滕施特劳赫综合征患者的遗传基础

Kovalskaia, Valeriia A; Kungurtseva, Anastasiia L; Bostanova, Fatima M; Vasiliev, Peter A; Tabakov, Vyacheslav Y; Orlova, Mariia D; Povolotskaya, Inna S; Novoselova, Olga G; Bikanov, Roman A; Akhyamova, Mariia A; Tikhonovich, Yulia V; Popovich, Anastasiia V; Vitebskaya, Alisa V; Dadali, Elena L; Ryzhkova, Oxana P

A New Case of Mitochondrial RNA Helicase SUPV3L1-Associated Neurodegenerative Disease: Ataxia, Spasticity, Optic Atrophy, and Skin Hypopigmentation (ASOASH)

线粒体RNA解旋酶SUPV3L1相关神经退行性疾病新病例:共济失调、痉挛、视神经萎缩和皮肤色素减退(ASOASH)

Tsygankova, Polina; Chistol, Denis; Krylova, Tatiana; Bychkov, Igor; Tabakov, Vyacheslav; Markova, Tatiana; Dadali, Elena; Zakharova, Ekaterina

Processed pseudogene insertion in GLB1 causes Morquio B disease by altering intronic splicing regulatory landscape

GLB1 中加工后的假基因插入通过改变内含子剪接调控结构导致 Morquio B 病。

Bychkov, Igor; Kuznetsova, Antonina; Baydakova, Galina; Gorobets, Leonid; Kenis, Vladimir; Dimitrieva, Alena; Filatova, Alexandra; Tabakov, Vyacheslav; Skoblov, Mikhail; Zakharova, Ekaterina

Publisher Correction: Processed pseudogene insertion in GLB1 causes Morquio B disease by altering intronic splicing regulatory landscape

出版商更正:GLB1 中加工假基因插入通过改变内含子剪接调控结构导致 Morquio B 病

Bychkov, Igor; Kuznetsova, Antonina; Baydakova, Galina; Gorobets, Leonid; Kenis, Vladimir; Dimitrieva, Alena; Filatova, Alexandra; Tabakov, Vyacheslav; Skoblov, Mikhail; Zakharova, Ekaterina

Additive effect of frequent polymorphism and rare synonymous variant alters splicing in twin patients with Niemann-Pick disease type C

常见多态性和罕见同义变异的累加效应改变了尼曼-匹克病C型双胞胎患者的剪接。

Bychkov, Igor; Filatova, Alexandra; Perelman, Grigory; Proshlyakova, Tatiana; Korotkova, Daria; Klyushnikov, Sergey; Karpova, Maria; Tabakov, Vyacheslav; Baydakova, Galina; Ilyushkina, Alexandra; Skoblov, Mikhail; Zakharova, Ekaterina