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

Somatic genetic rescue in ZCCHC8-associated telomere biology disorders

ZCCHC8相关端粒生物学疾病的体细胞遗传拯救

de Tocqueville, Sophie; Donaires, Flavia; DeCleene, Nicholas; Ba, Ibrahima; Nouri, Mina; Kermasson, Laëtitia; Chelbi, Malika; Bergot, Emmanuel; Leblanc, Thierry; Borie, Raphael; Philippot, Quentin; Antone, Elise; Prévot, Grégoire; Blanchard, Elodie; Keren, Boris; Lainey, Elodie; Catto, Marilia; Santana, Barbara; Chandrasekharappa, Settara C; Donovan, Frank X; Bazzo Catto, Luiz Fernando; Callebaut, Isabelle; Young, Neal S; Halfon-Domenech, Carine; Calado, Rodrigo T; Bertuch, Alison A; Gutierrez-Rodrigues, Fernanda; Kannengiesser, Caroline; Revy, Patrick

Human oncostatin M deficiency underlies an inherited severe bone marrow failure syndrome.

人类抑癌素M缺乏症是遗传性严重骨髓衰竭综合征的根本原因

Garrigue Alexandrine, Kermasson Laëtitia, Susini Sandrine, Fert Ingrid, Mahony Christopher B, Sadek Hanem, Luce Sonia, Chouteau Myriam, Cavazzana Marina, Six Emmanuelle, Le Bousse-Kerdilès Marie-Caroline, Anginot Adrienne, Souraud Jean-Baptiste, Cormier-Daire Valérie, Willems Marjolaine, Sirvent Anne, Russello Jennifer, Callebaut Isabelle, André Isabelle, Bertrand Julien Y, Lagresle-Peyrou Chantal, Revy Patrick

Long-term assessment of haematological recovery following somatic genetic rescue in a MYSM1-deficient patient: Implications for in vivo gene therapy

对MYSM1缺陷患者进行体细胞基因修复后血液学恢复情况的长期评估:对体内基因治疗的启示

de Tocqueville, Sophie; Martin, Emmanuel; Riller, Quentin; Kermasson, Laëtitia; France, Benoit; Magérus, Aude; Rieux-Laucat, Frédéric; Delhommeau, François; Hirsch, Pierre; Touzart, Aurore; Echalier, Aude; Fischer, Alain; Moshous, Despina; Revy, Patrick

Heterozygous RPA2 variant as a novel genetic cause of telomere biology disorders

杂合 RPA2 变异是端粒生物学疾病的新遗传原因

Rima Kochman, Ibrahima Ba #, Maïlyn Yates #, Vithura Pirabakaran #, Florian Gourmelon #, Dmitri Churikov #, Marc Laffaille, Laëtitia Kermasson, Coline Hamelin, Isabelle Marois, Frédéric Jourquin, Laura Braud, Marianne Bechara, Elodie Lainey, Hilario Nunes, Philippe Breton, Morgane Penhouet, Pierre D

Inherited human Apollo deficiency causes severe bone marrow failure and developmental defects

遗传性人类Apollo缺乏症会导致严重的骨髓衰竭和发育缺陷。

Kermasson, Laëtitia; Churikov, Dmitri; Awad, Aya; Smoom, Riham; Lainey, Elodie; Touzot, Fabien; Audebert-Bellanger, Séverine; Haro, Sophie; Roger, Lauréline; Costa, Emilia; Mouf, Maload; Bottero, Adriana; Oleastro, Matias; Abdo, Chrystelle; de Villartay, Jean-Pierre; Géli, Vincent; Tzfati, Yehuda; Callebaut, Isabelle; Danielian, Silvia; Soares, Gabriela; Kannengiesser, Caroline; Revy, Patrick

Publisher Correction: Somatic genetic rescue of a germline ribosome assembly defect

出版商更正:体细胞遗传拯救种系核糖体组装缺陷

Tan, Shengjiang; Kermasson, Laëtitia; Hilcenko, Christine; Kargas, Vasileios; Traynor, David; Boukerrou, Ahmed Z; Escudero-Urquijo, Norberto; Faille, Alexandre; Bertrand, Alexis; Rossmann, Maxim; Goyenechea, Beatriz; Jin, Li; Moreil, Jonathan; Alibeu, Olivier; Beaupain, Blandine; Bôle-Feysot, Christine; Fumagalli, Stefano; Kaltenbach, Sophie; Martignoles, Jean-Alain; Masson, Cécile; Nitschké, Patrick; Parisot, Mélanie; Pouliet, Aurore; Radford-Weiss, Isabelle; Tores, Frédéric; de Villartay, Jean-Pierre; Zarhrate, Mohammed; Koh, Ai Ling; Phua, Kong Boo; Reversade, Bruno; Bond, Peter J; Bellanné-Chantelot, Christine; Callebaut, Isabelle; Delhommeau, François; Donadieu, Jean; Warren, Alan J; Revy, Patrick

Somatic genetic rescue of a germline ribosome assembly defect

种系核糖体组装缺陷的体细胞遗传拯救

Shengjiang Tan #, Laëtitia Kermasson #, Christine Hilcenko, Vasileios Kargas, David Traynor, Ahmed Z Boukerrou, Norberto Escudero-Urquijo, Alexandre Faille, Alexis Bertrand, Maxim Rossmann, Beatriz Goyenechea, Li Jin, Jonathan Moreil, Olivier Alibeu, Blandine Beaupain, Christine Bôle-Feysot, Stefano

A Disease-Causing Single Amino Acid Deletion in the Coiled-Coil Domain of RAD50 Impairs MRE11 Complex Functions in Yeast and Humans

RAD50卷曲螺旋结构域中致病性单氨基酸缺失会损害酵母和人类的MRE11复合物功能

Marie Chansel-Da Cruz ,Marcel Hohl ,Ilaria Ceppi ,Laëtitia Kermasson ,Laurence Maggiorella ,Mauro Modesti ,Jean-Pierre de Villartay ,Talia Ileri ,Petr Cejka ,John H J Petrini ,Patrick Revy

NHP2 deficiency impairs rRNA biogenesis and causes pulmonary fibrosis and Høyeraal-Hreidarsson syndrome

NHP2 缺乏会损害 rRNA 生物合成并导致肺纤维化和 Høyeraal-Hreidarsson 综合征

Maname Benyelles, Marie-Françoise O'Donohue, Laëtitia Kermasson, Elodie Lainey, Raphael Borie, Chantal Lagresle-Peyrou, Hilario Nunes, Clarisse Cazelles, Cécile Fourrage, Emmanuelle Ollivier, Ambroise Marcais, Anne-Sophie Gamez, Fanny Morice-Picard, Denis Caillaud, Nicolas Pottier, Christelle Ménard

Impaired telomere integrity and rRNA biogenesis in PARN-deficient patients and knock-out models

PARN 缺陷患者和基因敲除模型中的端粒完整性和 rRNA 生物合成受损

Maname Benyelles, Harikleia Episkopou, Marie-Françoise O'Donohue, Laëtitia Kermasson, Pierre Frange, Florian Poulain, Fatma Burcu Belen, Meltem Polat, Christine Bole-Feysot, Francina Langa-Vives, Pierre-Emmanuel Gleizes, Jean-Pierre de Villartay, Isabelle Callebaut, Anabelle Decottignies, Patrick Re