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

Telomere occupancy by TRF2 is altered by KIT mutations and correlates with mastocytosis regression

KIT基因突变会改变TRF2对端粒的占据情况,并且这种改变与肥大细胞增生症的消退相关。

Bruneau, Julie; Georgin-Lavialle, Sophie; Ladraa, Sophia; Belaid, Zakia; Plo, Isabelle; Letard, Sébastien; Soucie, Erinn; Draskovic, Irena; Goudin, Nicolas; Bouillié, Marie; Lepelletier, Yves; Rossignol, Julien; Polivka, Laura; Frenzel, Laurent; Lortholary, Olivier; Fraitag, Sylvie; Bodemer, Christine; Revy, Patrick; Arock, Michel; Molina, Thierry-Jo; Londono-Vallejo, Arturo; Dubreuil, Patrice; Maouche-Chretien, Leila; Hermine, Olivier

Shwachman-Diamond syndrome due to biallelic EFL1 variants with complex and fatal clinical course in early infancy

由EFL1双等位基因变异引起的施瓦赫曼-戴蒙德综合征,在婴儿早期表现为复杂且致命的临床病程

Cario, Holger; Bertrand, Alexis; Tan, Shengjiang; Auber, Bernd; Erlacher, Miriam; Mair, Eva-Maria; von Hardenberg, Sandra; Lebrecht, Dirk; Revy, Patrick; Warren, Alan J

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

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

Myelodysplastic syndromes and idiopathic pulmonary fibrosis: a dangerous liaison

骨髓增生异常综合征与特发性肺纤维化:一种危险的关联

Papiris, Spyros A; Tsirigotis, Panagiotis; Kannengiesser, Caroline; Kolilekas, Lykourgos; Gkirkas, Konstantinos; Papaioannou, Andriana I; Revy, Patrick; Giouleka, Paschalina; Papadaki, Georgia; Kagouridis, Konstantinos; Pappa, Vassiliki; Borie, Raphael; Boileau, Catherine; Bouros, Demosthenes; Crestani, Bruno; Manali, Effrosyni D

Unraveling the pathogenesis of Hoyeraal-Hreidarsson syndrome, a complex telomere biology disorder

揭示霍耶拉尔-赫雷达尔松综合征(一种复杂的端粒生物学疾病)的发病机制

Glousker, Galina; Touzot, Fabien; Revy, Patrick; Tzfati, Yehuda; Savage, Sharon A

Cernunnos deficiency reduces thymocyte life span and alters the T cell repertoire in mice and humans

Cernunnos 缺陷会缩短小鼠和人类胸腺细胞的寿命并改变其 T 细胞库。

Vera, Gabriella; Rivera-Munoz, Paola; Abramowski, Vincent; Malivert, Laurent; Lim, Annick; Bole-Feysot, Christine; Martin, Christelle; Florkin, Benoit; Latour, Sylvain; Revy, Patrick; de Villartay, Jean-Pierre