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

DNMT3B splicing dysregulation mediated by SMCHD1 loss contributes to DUX4 overexpression and FSHD pathogenesis

SMCHD1缺失介导的DNMT3B剪接失调导致DUX4过表达和FSHD发病机制。

Eden Engal ,Aveksha Sharma ,Uria Aviel ,Nadeen Taqatqa ,Sarah Juster ,Shiri Jaffe-Herman ,Mercedes Bentata ,Ophir Geminder ,Adi Gershon ,Reyut Lewis ,Gillian Kay ,Merav Hecht ,Silvina Epsztejn-Litman ,Marc Gotkine ,Vincent Mouly ,Rachel Eiges ,Maayan Salton ,Yotam Drier

Insight and Recommendations for Fragile X-Premutation-Associated Conditions from the Fifth International Conference on FMR1 Premutation

第五届国际FMR1前突变会议对脆性X染色体前突变相关疾病的见解和建议

Tassone, Flora; Protic, Dragana; Allen, Emily Graves; Archibald, Alison D; Baud, Anna; Brown, Ted W; Budimirovic, Dejan B; Cohen, Jonathan; Dufour, Brett; Eiges, Rachel; Elvassore, Nicola; Gabis, Lidia V; Grudzien, Samantha J; Hall, Deborah A; Hessl, David; Hogan, Abigail; Hunter, Jessica Ezzell; Jin, Peng; Jiraanont, Poonnada; Klusek, Jessica; Kooy, R Frank; Kraan, Claudine M; Laterza, Cecilia; Lee, Andrea; Lipworth, Karen; Losh, Molly; Loesch, Danuta; Lozano, Reymundo; Mailick, Marsha R; Manolopoulos, Apostolos; Martinez-Cerdeno, Veronica; McLennan, Yingratana; Miller, Robert M; Montanaro, Federica Alice Maria; Mosconi, Matthew W; Potter, Sarah Nelson; Raspa, Melissa; Rivera, Susan M; Shelly, Katharine; Todd, Peter K; Tutak, Katarzyna; Wang, Jun Yi; Wheeler, Anne; Winarni, Tri Indah; Zafarullah, Marwa; Hagerman, Randi J

DMPK hypermethylation in sperm cells of myotonic dystrophy type 1 patients

1型强直性肌营养不良患者精子细胞中DMPK高甲基化

Yanovsky-Dagan, Shira; Cohen, Eliora; Megalli, Pauline; Altarescu, Gheona; Schonberger, Oshrat; Eldar-Geva, Talia; Epsztejn-Litman, Silvina; Eiges, Rachel

Correction of Heritable Epigenetic Defects Using Editing Tools

利用编辑工具纠正遗传性表观遗传缺陷

Handal, Tayma; Eiges, Rachel

The G-rich Repeats in FMR1 and C9orf72 Loci Are Hotspots for Local Unpairing of DNA

FMR1 和 C9orf72 基因座中富含 G 的重复序列是 DNA 局部解配对的热点区域

Abu Diab, Manar; Mor-Shaked, Hagar; Cohen, Eliora; Cohen-Hadad, Yaara; Ram, Oren; Epsztejn-Litman, Silvina; Eiges, Rachel

Incomplete methylation of a germ cell tumor (Seminoma) in a Prader-Willi male

普拉德-威利综合征男性生殖细胞肿瘤(精原细胞瘤)甲基化不完全

Eldar-Geva, Talia; Gross-Tsur, Varda; Hirsch, Harry J; Altarescu, Gheona; Segal, Reeval; Zeligson, Sharon; Golomb, Eliahu; Epsztejn-Litman, Silvina; Eiges, Rachel

Marked Differences in C9orf72 Methylation Status and Isoform Expression between C9/ALS Human Embryonic and Induced Pluripotent Stem Cells

C9/ALS 人类胚胎干细胞和诱导性多能干细胞之间 C9orf72 甲基化状态和异构体表达存在显著差异

Yaara Cohen-Hadad, Gheona Altarescu, Talia Eldar-Geva, Ephrat Levi-Lahad, Ming Zhang, Ekaterina Rogaeva, Marc Gotkine, Osnat Bartok, Reut Ashwal-Fluss, Sebastian Kadener, Silvina Epsztejn-Litman, Rachel Eiges

Uncovering the Role of Hypermethylation by CTG Expansion in Myotonic Dystrophy Type 1 Using Mutant Human Embryonic Stem Cells

利用突变人类胚胎干细胞揭示 CTG 扩增高甲基化在 1 型强直性肌营养不良症中的作用

Shira Yanovsky-Dagan, Michal Avitzour, Gheona Altarescu, Paul Renbaum, Talia Eldar-Geva, Oshrat Schonberger, Stella Mitrani-Rosenbaum, Ephrat Levy-Lahad, Ramon Y Birnbaum, Lior Gepstein, Silvina Epsztejn-Litman, Rachel Eiges

Modeling diseases of noncoding unstable repeat expansions using mutant pluripotent stem cells

利用突变多能干细胞模拟非编码不稳定重复序列扩增引起的疾病

Yanovsky-Dagan, Shira; Mor-Shaked, Hagar; Eiges, Rachel

Establishment of Homozygote Mutant Human Embryonic Stem Cells by Parthenogenesis

通过孤雌生殖建立纯合突变人类胚胎干细胞

Silvina Epsztejn-Litman, Yaara Cohen-Hadad, Shira Aharoni, Gheona Altarescu, Paul Renbaum, Ephrat Levy-Lahad, Oshrat Schonberger, Talia Eldar-Geva, Sharon Zeligson, Rachel Eiges