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

DNA and Histone Modifications Identify a Putative Controlling Element (CE) on the X Chromosome of Sciara coprophila

DNA和组蛋白修饰鉴定出粪蝇(Sciara coprophila)X染色体上的一个假定控制元件(CE)。

Posukh, Olga V; Shloma, Victor V; Skrypnik, Polina A; Maksimov, Daniil A; Antoshina, Polina A; Kalashnikova, Daria A; Nurislamov, Artem; Lukyanchikova, Varvara A; Torgunakov, Nikita; Battulin, Nariman R; Fishman, Veniamin S; Vyatkin, Yuri V; Smelova, Arina A; Romanov, Stanislav E; Laktionov, Petr P; Valishayev, Daulet; Belyakin, Stepan N; Singh, Prim B

Assessing the Functional Significance of Novel and Rare Variants of the SLC26A4 Gene Found in Patients with Hearing Loss by Minigene Assay

利用微基因检测评估听力损失患者中发现的SLC26A4基因新型和罕见变异的功能意义

Danilchenko, Valeriia Yu; Panina, Ekaterina A; Zytzar, Marina V; Orishchenko, Konstantin E; Posukh, Olga L

Comparative analysis of haplotypes carrying pathogenic variants c.1545T>G, c.2027T>A and c.919-2A>G of the SLC26A4 gene in patients with hearing loss from the Tyva Republic (Southern Siberia)

对来自图瓦共和国(西伯利亚南部)听力损失患者的 SLC26A4 基因致病变异 c.1545T>G、c.2027T>A 和 c.919-2A>G 的单倍型进行比较分析

Danilchenko, V Yu; Zytsar, M V; Panina, E A; Orishchenko, K E; Posukh, O L

Functional Consequences of Pathogenic Variants of the GJB2 Gene (Cx26) Localized in Different Cx26 Domains

位于不同Cx26结构域的GJB2基因(Cx26)致病变异的功能后果

Posukh, Olga L; Maslova, Ekaterina A; Danilchenko, Valeriia Yu; Zytsar, Marina V; Orishchenko, Konstantin E

Insight into the Natural History of Pathogenic Variant c.919-2A>G in the SLC26A4 Gene Involved in Hearing Loss: The Evidence for Its Common Origin in Southern Siberia (Russia)

深入了解与听力损失相关的 SLC26A4 基因致病变异 c.919-2A>G 的自然史:其起源于俄罗斯西伯利亚南部的证据

Danilchenko, Valeriia Yu; Zytsar, Marina V; Maslova, Ekaterina A; Orishchenko, Konstantin E; Posukh, Olga L

The GJB2 (Cx26) Gene Variants in Patients with Hearing Impairment in the Baikal Lake Region (Russia)

贝加尔湖地区(俄罗斯)听力障碍患者的GJB2(Cx26)基因变异

Pshennikova, Vera G; Teryutin, Fedor M; Cherdonova, Alexandra M; Borisova, Tuyara V; Solovyev, Aisen V; Romanov, Georgii P; Morozov, Igor V; Bondar, Alexander A; Posukh, Olga L; Fedorova, Sardana A; Barashkov, Nikolay A

Selection of Diagnostically Significant Regions of the SLC26A4 Gene Involved in Hearing Loss

选择与听力损失相关的SLC26A4基因中具有诊断意义的区域

Danilchenko, Valeriia Yu; Zytsar, Marina V; Maslova, Ekaterina A; Posukh, Olga L

Agent-Based Modeling of Autosomal Recessive Deafness 1A (DFNB1A) Prevalence with Regard to Intensity of Selection Pressure in Isolated Human Population

基于代理的常染色体隐性遗传性耳聋1A(DFNB1A)患病率建模及其与孤立人群选择压力强度的关系

Romanov, Georgii P; Smirnova, Anna A; Zamyatin, Vladimir I; Mukhin, Aleksey M; Kazantsev, Fedor V; Pshennikova, Vera G; Teryutin, Fedor M; Solovyev, Aisen V; Fedorova, Sardana A; Posukh, Olga L; Lashin, Sergey A; Barashkov, Nikolay A

Functional Evaluation of a Rare Variant c.516G>C (p.Trp172Cys) in the GJB2 (Connexin 26) Gene Associated with Nonsyndromic Hearing Loss

与非综合征性听力损失相关的 GJB2(连接蛋白 26)基因中罕见变异 c.516G>C(p.Trp172Cys)的功能评估

Ekaterina A Maslova, Konstantin E Orishchenko, Olga L Posukh

Autosomal recessive cataract (CTRCT18) in the Yakut population isolate of Eastern Siberia: a novel founder variant in the FYCO1 gene

东西伯利亚雅库特人群隔离区中的常染色体隐性白内障(CTRCT18):FYCO1基因中的一种新型创始变异

Barashkov, Nikolay A; Konovalov, Fedor A; Borisova, Tuyara V; Teryutin, Fedor M; Solovyev, Aisen V; Pshennikova, Vera G; Sapojnikova, Nadejda V; Vychuzhina, Lyubov S; Romanov, Georgii P; Gotovtsev, Nyurgun N; Morozov, Igor V; Bondar, Alexander A; Platonov, Fedor A; Burtseva, Tatiana E; Khusnutdinova, Elza K; Posukh, Olga L; Fedorova, Sardana A