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

Loss of DOT1L disrupts neuronal transcription and leads to a neurodevelopmental disorder

DOT1L 的缺失会扰乱神经元转录,并导致神经发育障碍。

Maroni, Marissa J; Barton, Melissa; Lynch, Katherine; Deshwar, Ashish R; Campbell, Philip D; Millard, Josephine; Lee, Rachel; Cohen, Annastelle; Ahmad, Rili; Paranjapye, Alekh; Faundes, Víctor; Repetto, Gabriela M; McKenna, Caoimhe; Shillington, Amelle L; Phornphutkul, Chanika; Hove, Hanne B; Mancini, Grazia M S; Schot, Rachel; Barakat, Tahsin Stefan; Richmond, Christopher M; Lauzon, Julie; Ibrahim, Ahmed Ibrahim Elsayed; Nava, Caroline; Héron, Delphine; van Aalst, Minke M A; Atemin, Slavena; Sleptsova, Mila; Aleksandrova, Iliyana; Todorova, Albena; Watkins, Debra L; Kozenko, Mariya A; Natera-de Benito, Daniel; Ortez, Carlos; Estevez-Arias, Berta; Lecoquierre, François; Cassinari, Kévin; Guerrot, Anne-Marie; Levy, Jonathan; Latypova, Xenia; Verloes, Alain; Innes, A Micheil; Yang, Xiao-Ru; Banka, Siddharth; Vill, Katharina; Jacob, Maureen; Kruer, Michael; Skidmore, Peter; Galaz-Montoya, Carolina I; Bakhtiari, Somayeh; Mester, Jessica L; Granato, Michael; Armache, Karim-Jean; Costain, Gregory; Korb, Erica

Exome Study of Single Nucleotide Variations in Patients with Syndromic and Non-Syndromic Autism Reveals Potential Candidate Genes for Diagnostics and Novel Single Nucleotide Variants

对综合征型和非综合征型自闭症患者单核苷酸变异的外显子组研究揭示了潜在的诊断候选基因和新的单核苷酸变异

Belenska-Todorova, Lyudmila; Zamfirov, Milen; Todorov, Tihomir; Atemin, Slavena; Sleptsova, Mila; Pavlova, Zornitsa; Kadiyska, Tanya; Maver, Ales; Peterlin, Borut; Todorova, Albena

In and out of Replication Stress: PCNA/RPA1-Based Dynamics of Fork Stalling and Restart in the Same Cell

复制压力内外:基于 PCNA/RPA1 的同一细胞内分叉停滞和重启动力学

Teodora Dyankova-Danovska, Sonya Uzunova, Georgi Danovski, Rumen Stamatov, Petar-Bogomil Kanev, Aleksandar Atemin, Aneliya Ivanova, Radoslav Aleksandrov, Stoyno Stoynov

Dynamics of Replication-Associated Protein Levels through the Cell Cycle

细胞周期中复制相关蛋白水平的动态变化

Atemin, Aleksandar; Ivanova, Aneliya; Kanev, Petar-Bogomil; Uzunova, Sonya; Nedelcheva-Veleva, Marina; Stoynov, Stoyno

A Cautionary Tale of Hypertrophic Cardiomyopathy-From "Benign" Left Ventricular Hypertrophy to Stroke, Atrial Fibrillation, and Molecular Genetic Diagnostics: A Case Report and Review of Literature

肥厚型心肌病的警示案例——从“良性”左心室肥厚到卒中、房颤及分子遗传学诊断:病例报告及文献综述

Gencheva, Dolina; Angelova, Petya; Genova, Kameliya; Atemin, Slavena; Sleptsova, Mila; Todorov, Tihomir; Nikolov, Fedya; Ruseva, Donka; Mitev, Vanyo; Todorova, Albena

Diffusion of activated ATM explains γH2AX and MDC1 spread beyond the DNA damage site

活化 ATM 的扩散解释了 γH2AX 和 MDC1 扩散到 DNA 损伤位点之外

Georgi Danovski, Greta Panova, Bradley Keister, Georgi Georgiev, Aleksandar Atemin, Sonya Uzunova, Rumen Stamatov, Petar-Bogomil Kanev, Radoslav Aleksandrov, Krastan B Blagoev, Stoyno S Stoynov

Kinetic Landscape of Single Virus-like Particles Highlights the Efficacy of SARS-CoV-2 Internalization

单个病毒样颗粒的动力学景观凸显了 SARS-CoV-2 内化的有效性

Aleksandar Atemin, Aneliya Ivanova, Wiley Peppel, Rumen Stamatov, Rodrigo Gallegos, Haley Durden, Sonya Uzunova, Michael D Vershinin, Saveez Saffarian, Stoyno S Stoynov

Novel variant c.92T > G (p.Val31Gly) in the PFN1 gene (ALS18) responsible for a specific phenotype in a large Bulgarian amyotrophic lateral sclerosis pedigree

PFN1基因(ALS18)中的一种新变异c.92T>G(p.Val31Gly)导致保加利亚一个大型肌萎缩侧索硬化症家系出现特定表型。

Angelov, Teodor; Chamova, Teodora; Atemin, Slavena; Todorov, Tihomir; Ormandzhiev, Slavko; Tourtourikov, Ivan; Todorova, Albena; Devos, David; Tournev, Ivailo

EPHA4 Genetic Variant in a Patient with Epilepsy, Ophthalmological Anomalies, and Neurodevelopmental Delay

EPHA4基因变异与癫痫、眼部异常和神经发育迟缓患者相关

Sleptsova, M; Georgiev, C; Atemin, S; Dimova, P; Avdjieva-Tzavella, D; Tacheva, G; Litvinenko, I; Grozdanova, L; Todorov, T; Mitev, V; Todorova, A

The Effect of Dia2 Protein Deficiency on the Cell Cycle, Cell Size, and Recruitment of Ctf4 Protein in Saccharomyces cerevisiae

Dia2 蛋白缺乏对酿酒酵母细胞周期、细胞大小和 Ctf4 蛋白募集的影响

Aneliya Ivanova, Aleksandar Atemin, Sonya Uzunova, Georgi Danovski, Radoslav Aleksandrov, Stoyno Stoynov, Marina Nedelcheva-Veleva