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

Transcription elongation factor ELOF1 is required for efficient somatic hypermutation and class switch recombination

转录延伸因子ELOF1是高效体细胞高频突变和类别转换重组所必需的。

Wu, Lizhen; Yadavalli, Anurupa Devi; Senigl, Filip; Matos-Rodrigues, Gabriel; Xu, Dijin; Pintado-Urbanc, Andreas P; Simon, Matthew D; Wu, Wei; Nussenzweig, André; Schatz, David G

Somatic instability of the FGF14-SCA27B GAA•TTC repeat reveals a marked expansion bias in the cerebellum

FGF14-SCA27B GAA•TTC重复序列的体细胞不稳定性揭示了小脑中明显的扩增偏向性

Pellerin, David; Méreaux, Jean-Loup; Boluda, Susana; Danzi, Matt C; Dicaire, Marie-Josée; Davoine, Claire-Sophie; Genis, David; Spurdens, Guinevere; Ashton, Catherine; Hammond, Jillian M; Gerhart, Brandon J; Chelban, Viorica; Le, Phuong U; Safisamghabadi, Maryam; Yanick, Christopher; Lee, Hamin; Nageshwaran, Sathiji K; Matos-Rodrigues, Gabriel; Jaunmuktane, Zane; Petrecca, Kevin; Akbarian, Schahram; Nussenzweig, André; Usdin, Karen; Renaud, Mathilde; Bonnet, Céline; Ravenscroft, Gianina; Saporta, Mario A; Napierala, Jill S; Houlden, Henry; Deveson, Ira W; Napierala, Marek; Brice, Alexis; Molina Porcel, Laura; Seilhean, Danielle; Zuchner, Stephan; Durr, Alexandra; Brais, Bernard

A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus.

常见的侧翼变异与 FGF14-SCA27B 重复基因座的稳定性增强有关

Pellerin David, Del Gobbo Giulia F, Couse Madeline, Dolzhenko Egor, Nageshwaran Sathiji K, Cheung Warren A, Xu Isaac R L, Dicaire Marie-Josée, Spurdens Guinevere, Matos-Rodrigues Gabriel, Stevanovski Igor, Scriba Carolin K, Rebelo Adriana, Roth Virginie, Wandzel Marion, Bonnet Céline, Ashton Catherine, Agarwal Aman, Peter Cyril, Hasson Dan, Tsankova Nadejda M, Dewar Ken, Lamont Phillipa J, Laing Nigel G, Renaud Mathilde, Houlden Henry, Synofzik Matthis, Usdin Karen, Nussenzweig Andre, Napierala Marek, Chen Zhao, Jiang Hong, Deveson Ira W, Ravenscroft Gianina, Akbarian Schahram, Eberle Michael A, Boycott Kym M, Pastinen Tomi, Brais Bernard, Zuchner Stephan, Danzi Matt C

Assessment of the Clinical Interactions of GAA Repeat Expansions in FGF14 and FXN.

评估 FGF14 和 FXN 中 GAA 重复扩增的临床相互作用

Gerhart Brandon J, Pellerin David, Danzi Matt C, Zuchner Stephan, Brais Bernard, Matos-Rodrigues Gabriel, Nussenzweig Andre, Usdin Karen, Park Courtney C, Napierala Jill S, Lynch David R, Napierala Marek

Somatic instability of the FGF14 -SCA27B GAA•TTC repeat reveals a marked expansion bias in the cerebellum

FGF14-SCA27B GAA•TTC重复序列的体细胞不稳定性揭示了小脑中明显的扩增偏向性

Pellerin, David; Méreaux, Jean-Loup; Boluda, Susana; Danzi, Matt C; Dicaire, Marie-Josée; Davoine, Claire-Sophie; Genis, David; Spurdens, Guinevere; Ashton, Catherine; Hammond, Jillian M; Gerhart, Brandon J; Chelban, Viorica; Le, Phuong U; Safisamghabadi, Maryam; Yanick, Christopher; Lee, Hamin; Nageshwaran, Sathiji K; Matos-Rodrigues, Gabriel; Jaunmuktane, Zane; Petrecca, Kevin; Akbarian, Schahram; Nussenzweig, André; Usdin, Karen; Renaud, Mathilde; Bonnet, Céline; Ravenscroft, Gianina; Saporta, Mario A; Napierala, Jill S; Houlden, Henry; Deveson, Ira W; Napierala, Marek; Brice, Alexis; Molina Porcel, Laura; Seilhean, Danielle; Zuchner, Stephan; Durr, Alexandra; Brais, Bernard

Detection of alternative DNA structures and its implications for human disease

检测替代DNA结构及其对人类疾病的影响

Matos-Rodrigues, Gabriel; Hisey, Julia A; Nussenzweig, André; Mirkin, Sergei M

Pathogenic CANVAS (AAGGG)(n) repeats stall DNA replication due to the formation of alternative DNA structures

致病性 CANVAS (AAGGG)(n) 重复序列由于形成替代性 DNA 结构而导致 DNA 复制停滞。

Hisey, Julia A; Radchenko, Elina A; Ceschi, Silvia; Rastokina, Anastasia; Mandel, Nicholas H; McGinty, Ryan J; Matos-Rodrigues, Gabriel; Hernandez, Alfredo; Nussenzweig, André; Mirkin, Sergei M

Active DNA demethylation promotes cell fate specification and the DNA damage response

主动DNA去甲基化促进细胞命运决定和DNA损伤反应。

Wang, Dongpeng; Wu, Wei; Callen, Elsa; Pavani, Raphael; Zolnerowich, Nicholas; Kodali, Srikanth; Zong, Dali; Wong, Nancy; Noriega, Santiago; Nathan, William J; Matos-Rodrigues, Gabriel; Chari, Raj; Kruhlak, Michael J; Livak, Ferenc; Ward, Michael; Caldecott, Keith; Di Stefano, Bruno; Nussenzweig, André

An Eye in the Replication Stress Response: Lessons From Tissue-Specific Studies in vivo

观察复制应激反应:来自体内组织特异性研究的启示

Matos-Rodrigues, Gabriel E; Martins, Rodrigo A P

Homologous recombination, cancer and the 'RAD51 paradox'

同源重组、癌症与“RAD51悖论”

Matos-Rodrigues, Gabriel; Guirouilh-Barbat, Josée; Martini, Emmanuelle; Lopez, Bernard S