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

The 3'-5' exoribonuclease ISG20L2 contributes to 3' terminus maturation of 18S and 28S ribosomal RNAs

3'-5'外切核糖核酸酶ISG20L2参与18S和28S核糖体RNA的3'末端成熟。

Aubert, Maxime; Zuber, Hélène; Mommert-Tripon, Marine; Page, Sarah Le; Montel-Lehry, Nathalie; Soldan, Vanessa; Bosch, Stéphanie; Gagliardi, Dominique; Gleizes, Pierre-Emmanuel; O'Donohue, Marie-Françoise

Diagnosis, treatment, and surveillance of Diamond-Blackfan anaemia syndrome: international consensus statement

Diamond-Blackfan贫血综合征的诊断、治疗和监测:国际共识声明

Wlodarski, Marcin W; Vlachos, Adrianna; Farrar, Jason E; Da Costa, Lydie M; Kattamis, Antonis; Dianzani, Irma; Belendez, Cristina; Unal, Sule; Tamary, Hannah; Pasauliene, Ramune; Pospisilova, Dagmar; de la Fuente, Josu; Iskander, Deena; Wolfe, Lawrence; Liu, Johnson M; Shimamura, Akiko; Albrecht, Katarzyna; Lausen, Birgitte; Bechensteen, Anne Grete; Tedgard, Ulf; Puzik, Alexander; Quarello, Paola; Ramenghi, Ugo; Bartels, Marije; Hengartner, Heinz; Farah, Roula A; Al Saleh, Mahasen; Hamidieh, Amir Ali; Yang, Wan; Ito, Etsuro; Kook, Hoon; Ovsyannikova, Galina; Kager, Leo; Gleizes, Pierre-Emmanuel; Dalle, Jean-Hugues; Strahm, Brigitte; Niemeyer, Charlotte M; Lipton, Jeffrey M; Leblanc, Thierry M

Good Vibrations: Structural Remodeling of Maturing Yeast Pre-40S Ribosomal Particles Followed by Cryo-Electron Microscopy.

良好的振动:成熟酵母前 40S 核糖体颗粒的结构重塑及其冷冻电镜观察

Shayan Ramtin, Rinaldi Dana, Larburu Natacha, Plassart Laura, Balor Stéphanie, Bouyssié David, Lebaron Simon, Marcoux Julien, Gleizes Pierre-Emmanuel, Plisson-Chastang Célia

The path of pre-ribosomes through the nuclear pore complex revealed by electron tomography

电子断层扫描揭示核糖体前体穿过核孔复合体的路径

Delavoie, Franck; Soldan, Vanessa; Rinaldi, Dana; Dauxois, Jean-Yves; Gleizes, Pierre-Emmanuel

RPL13 Variants Cause Spondyloepimetaphyseal Dysplasia with Severe Short Stature

RPL13 变异导致脊椎骨骺干骺端发育不良伴严重矮小症

Le Caignec, Cedric; Ory, Benjamin; Lamoureux, François; O'Donohue, Marie-Francoise; Orgebin, Emilien; Lindenbaum, Pierre; Téletchéa, Stéphane; Saby, Manon; Hurst, Anna; Nelson, Katherine; Gilbert, Shawn R; Wilnai, Yael; Zeitlin, Leonid; Segev, Eitan; Tesfaye, Robel; Nizon, Mathilde; Cogne, Benjamin; Bezieau, Stéphane; Geoffroy, Loic; Hamel, Antoine; Mayrargue, Emmanuelle; de Courtivron, Benoît; Decock-Giraudaud, Aliette; Charrier, Céline; Pichon, Olivier; Retière, Christelle; Redon, Richard; Pepler, Alexander; McWalter, Kirsty; Da Costa, Lydie; Toutain, Annick; Gleizes, Pierre-Emmanuel; Baud'huin, Marc; Isidor, Bertrand

The Genetic Landscape of Diamond-Blackfan Anemia

戴蒙德-布莱克范贫血症的遗传图谱

Ulirsch, Jacob C; Verboon, Jeffrey M; Kazerounian, Shideh; Guo, Michael H; Yuan, Daniel; Ludwig, Leif S; Handsaker, Robert E; Abdulhay, Nour J; Fiorini, Claudia; Genovese, Giulio; Lim, Elaine T; Cheng, Aaron; Cummings, Beryl B; Chao, Katherine R; Beggs, Alan H; Genetti, Casie A; Sieff, Colin A; Newburger, Peter E; Niewiadomska, Edyta; Matysiak, Michal; Vlachos, Adrianna; Lipton, Jeffrey M; Atsidaftos, Eva; Glader, Bertil; Narla, Anupama; Gleizes, Pierre-Emmanuel; O'Donohue, Marie-Françoise; Montel-Lehry, Nathalie; Amor, David J; McCarroll, Steven A; O'Donnell-Luria, Anne H; Gupta, Namrata; Gabriel, Stacey B; MacArthur, Daniel G; Lander, Eric S; Lek, Monkol; Da Costa, Lydie; Nathan, David G; Korostelev, Andrei A; Do, Ron; Sankaran, Vijay G; Gazda, Hanna T

Recurring mutations in RPL15 are linked to hydrops fetalis and treatment independence in Diamond-Blackfan anemia

RPL15基因的复发性突变与胎儿水肿和Diamond-Blackfan贫血症的治疗独立性有关

Wlodarski, Marcin W; Da Costa, Lydie; O'Donohue, Marie-Françoise; Gastou, Marc; Karboul, Narjesse; Montel-Lehry, Nathalie; Hainmann, Ina; Danda, Dominika; Szvetnik, Amina; Pastor, Victor; Paolini, Nahuel; di Summa, Franca M; Tamary, Hannah; Quider, Abed Abu; Aspesi, Anna; Houtkooper, Riekelt H; Leblanc, Thierry; Niemeyer, Charlotte M; Gleizes, Pierre-Emmanuel; MacInnes, Alyson W

Pre-Ribosomal RNA Processing in Human Cells: From Mechanisms to Congenital Diseases

人类细胞中核糖体前体RNA的加工:从机制到先天性疾病

Aubert, Maxime; O'Donohue, Marie-Françoise; Lebaron, Simon; Gleizes, Pierre-Emmanuel

Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia

通过阵列比较基因组杂交技术在Diamond-Blackfan贫血症中发现了一种新的RPL15基因缺失

Landowski, Michael; O'Donohue, Marie-Françoise; Buros, Christopher; Ghazvinian, Roxanne; Montel-Lehry, Nathalie; Vlachos, Adrianna; Sieff, Colin A; Newburger, Peter E; Niewiadomska, Edyta; Matysiak, Michal; Glader, Bertil; Atsidaftos, Eva; Lipton, Jeffrey M; Beggs, Alan H; Gleizes, Pierre-Emmanuel; Gazda, Hanna T

Strong Maternal Khoisan Contribution to the South African Coloured Population: A Case of Gender-Biased Admixture

南非有色人种中科伊桑族母系血统的显著贡献:一个性别偏向性混血案例

Morange, Pierre-Emmanuel; Bezemer, Irene; Saut, Noémie; Bare, Lance; Burgos, Gwenaelle; Brocheton, Jessy; Durand, Hervé; Biron-Andreani, Christine; Schved, Jean-Francois; Pernod, Gilles; Galan, Pilar; Drouet, Ludovic; Zelenika, Diana; Germain, Marine; Nicaud, Viviane; Heath, Simon; Ninio, Ewa; Delluc, Aurélien; Münzel, Thomas; Zeller, Tanja; Brand-Herrmann, Stefan-Martin; Alessi, Marie-Christine; Tiret, Laurence; Lathrop, Mark; Cambien, François; Blankenberg, Stefan; Emmerich, Joseph; Trégouët, David-Alexandre; Rosendaal, Frits R; Bungartz, Kathryn D; Williamson, Robin E; Doherty, Leana; Sheen, Mee Rie; Vlachos, Adrianna; Choesmel, Valerie; O'Donohue, Marie-Françoise; Clinton, Catherine; Schneider, Hal E; Sieff, Colin A; Newburger, Peter E; Ball, Sarah E; Niewiadomska, Edyta; Matysiak, Michal; Glader, Bertil; Arceci, Robert J; Farrar, Jason E; Atsidaftos, Eva; Lipton, Jeffrey M; Gleizes, Pierre-Emmanuel; Gazda, Hanna T; Morange, Pierre-Emmanuel; Bezemer, Irene; Saut, Noémie; Bare, Lance; Burgos, Gwenaelle; Brocheton, Jessy; Durand, Hervé; Biron-Andreani, Christine; Schved, Jean-Francois; Pernod, Gilles; Galan, Pilar; Drouet, Ludovic; Zelenika, Diana; Germain, Marine; Nicaud, Viviane; Heath, Simon; Ninio, Ewa; Delluc, Aurélien; Münzel, Thomas; Zeller, Tanja; Brand-Herrmann, Stefan-Martin; Alessi, Marie-Christine; Tiret, Laurence; Lathrop, Mark; Cambien, François; Blankenberg, Stefan; Emmerich, Joseph; Trégouët, David-Alexandre; Rosendaal, Frits R; Dahlqvist, Johanna; Klar, Joakim; Tiwari, Neha; Schuster, Jens; Törmä, Hans; Badhai, Jitendra; Pujol, Ramon; van Steensel, Maurice AM; Brinkhuizen, Tjinta; Gijezen, Lieke; Chaves, Antonio; Tadini, Gianluca; Vahlquist, Anders; Dahl, Niklas; Garber, Kathryn B; Froyen, Guy; Quintana-Murci, Lluis; Harmant, Christine; Quach, Hélène; Balanovsky, Oleg; Zaporozhchenko, Valery; Bormans, Connie; van Helden, Paul D; Hoal, Eileen G; Behar, Doron M