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

Missense variants in DPYSL5 associated with neurodevelopmental disorders and brain malformations cause impaired neuronal maturation in vitro

DPYSL5基因中的错义变异与神经发育障碍和脑畸形相关,会导致体外神经元成熟受损。

Desprez, Florence; Remize, Solène; François-Moutal, Liberty; Ung, Dévina C; Dangoumau, Audrey; Marouillat, Sylviane; Kennedy, Joanna; Low, Karen J; Kumps, Camille; Unger, Sheila; Keren, Boris; de Sainte Agathe, Jean-Madeleine; Poirsier, Céline; Mirzaa, Ghayda M; Aldinger, Kimberly A; Lesca, Gaetan; Ruault, Valentin; Finnila, Candice R; Kelley, Whitley V; Latner, Donald R; Guptha, Sushma N; Tuttle, Annabelle; Glass, Ian; Chung, Wendy K; Hayek, Jennifer Cassady; Boute, Odile; Moutal, Aubin; Jeanne, Médéric; Laumonnier, Frédéric

Bi-allelic variants in FSD1L cause a neurodevelopmental disorder overlapping with L1 syndrome

FSD1L基因的双等位基因变异会导致一种与L1综合征症状重叠的神经发育障碍。

Serpieri, Valentina; Vezain-Mouchard, Myriam; Orsi, Alessia; Lecointre, Maryline; Mazzotta, Concetta; Marguet, Florent; Garbelli, Anna; Marcorelles, Pascale; Celli, Ludovica; Goldenberg, Alice; De Mori, Roberta; Drouot, Nathalie; Petrizzelli, Francesco; Janin, François; Nicolas, Gaël; Smal, Noor; Condoluci, Claudia; Marini, Carla; Tran-Mau-Them, Frederic; Ruault, Valentin; Micalizzi, Alessia; Bione, Silvia; Mazza, Tommaso; Pichiecchio, Anna; Ginevrino, Monia; Weckhuysen, Sarah; Bedois, Alice; Desnous, Béatrice; Hermitte, Laurent; Rabie, Grace; Kanaan, Moien; Gonzalez, Bruno J; Sabbioneda, Simone; Laquerrière, Annie; Saugier-Veber, Pascale; Valente, Enza Maria

Nuclear Dynamics in Quiescent Cells: Conserved Mechanisms from Yeasts to Mammals

静止细胞的核动力学:从酵母到哺乳动物的保守机制

Braun, Sigurd; Kilchert, Cornelia; Bulut-Karslioglu, Aydan; Ruault, Myriam; Taddei, Angela; Rabbani, Fatemeh; Włoch-Salamon, Dominika

Birth length and perinatal exposures and rheumatoid arthritis risk in the E3N cohort

E3N队列中出生身长和围产期暴露与类风湿性关节炎风险的关系

Dusser, Perrine; Nguyen, Yann; Perrin, Claire; Frénoy, Pauline; Mariette, Xavier; Boutron-Ruault, Marie-Christine; Severi, Gianluca; Salliaot, Carine; Seror, Raphaèle

Hypertrophic Cardiomyopathy as a Key Feature of MRAS-Related Noonan Syndrome: New Case and Comprehensive Literature Review

肥厚型心肌病是MRAS相关努南综合征的关键特征:新病例报告及文献综述

Martineau, Romain; Wells, Constance; Fuchs, Florent; Collardeau-Frachon, Sophie; Ruault, Valentin; Colomb, Sophie; Faure, Jean-Michel; Bartholmot, Caroline; Vincenti, Marie; Ganne, Benjamin; Willems, Marjolaine

A large C-terminal Rad52 segment acts as a chaperone to Form and Stabilize Rad51 Filaments

Rad52 的一个大的 C 端片段作为分子伴侣,促进 Rad51 丝状体的形成和稳定。

Ma, Emilie; Lakhal, Fadma; Litsardaki, Eleni; Ruault, Myriam; Audin, Maxime; Levrier, Natacha; Navarro, Emilie; Garnier, Mickaël; Maloisel, Laurent; Depagne, Jordane; Brocas, Clémentine; Thureau, Aurelien; Busso, Didier; Veaute, Xavier; Guerois, Raphaël; Taddei, Angela; Ochsenbein, Françoise; Coïc, Eric

Parasitic plasmids are anchored to inactive regions of eukaryotic chromosomes through a nucleosome signal

寄生质粒通过核小体信号锚定在真核生物染色体的非活性区域。

Fabien Girard ,Antoine Even ,Agnès Thierry ,Myriam Ruault ,Léa Meneu ,Pauline Larrous ,Mickaël Garnier ,Sandrine Adiba ,Angela Taddei ,Romain Koszul ,Axel Cournac

Depression, antidepressant use, and breast cancer incidence: results from the E3N prospective cohort

抑郁症、抗抑郁药使用与乳腺癌发病率:来自 E3N 前瞻性队列研究的结果

Colle, Romain; Deflesselle, Eric; Mohamed, Océane; Falissard, Bruno; Severi, Gianluca; Fournier, Agnès; Boutron-Ruault, Marie-Christine; Corruble, Emmanuelle

Intergenic accumulation of RNA polymerase II maintains the potential for swift transcriptional restart upon release from quiescence

RNA聚合酶II在基因间的积累维持了从静止期释放后迅速重启转录的潜力。

Baquero Pérez, Manuela; Laenen, Gertjan; Loïodice, Isabelle; Garnier, Mickaël; Szachnowski, Ugo; Morillon, Antonin; Ruault, Myriam; Taddei, Angela

Comparative Population Genomics Unveils Congruent Secondary Suture Zone in Southwest Pacific Hydrothermal Vents

比较群体基因组学揭示西南太平洋热液喷口中一致的次级缝合带

Tran Lu Y, Adrien; Ruault, Stéphanie; Daguin-Thiebaut, Claire; Le Port, Anne-Sophie; Ballenghien, Marion; Castel, Jade; Gagnaire, Pierre-Alexandre; Bierne, Nicolas; Arnaud-Haond, Sophie; Poitrimol, Camille; Thiebaut, Eric; Lallier, François; Broquet, Thomas; Jollivet, Didier; Bonhomme, François; Hourdez, Stephane