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

Development and validation of a PSMA-positive triple-negative breast cancer mouse model for preclinical targeted radionuclide therapies.

开发和验证 PSMA 阳性三阴性乳腺癌小鼠模型,用于临床前靶向放射性核素治疗。

Chaussin Benjamin, Sanchez Lucie, Levesque Sophie, Revy Alban, Tempier Marion, Montemagno Christopher, Durivault Jérôme, Schmitt Sébastien, Boutault Erwan, Besse Sophie, Chautard Emmanuel, Auriol Manon, Voissiere Aurélien, Kossaï Myriam, Miot-Noirault Elisabeth, Penault-Llorca Frédérique, Merlin Charles, Cachin Florent, Jouberton Elodie

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

Somatic RAP1B gain-of-function variant underlies isolated thrombocytopenia and immunodeficiency

体细胞 RAP1B 功能获得性变异是孤立性血小板减少症和免疫缺陷的根本原因

Marta Benavides-Nieto ,Frédéric Adam ,Emmanuel Martin ,Charlotte Boussard ,Chantal Lagresle-Peyrou ,Isabelle Callebaut ,Alexandre Kauskot ,Christelle Repérant ,Miao Feng ,Jean-Claude Bordet ,Martin Castelle ,Guillaume Morelle ,Chantal Brouzes ,Mohammed Zarhrate ,Patricia Panikulam ,Nathalie Lambert ,Capucine Picard ,Damien Bodet ,Jérémie Rouger-Gaudichon ,Patrick Revy ,Jean-Pierre de Villartay ,Despina Moshous

Somatic RAP1B gain-of-function variant underlies isolated thrombocytopenia and immunodeficiency

体细胞 RAP1B 功能获得性变异是孤立性血小板减少症和免疫缺陷的根本原因

Marta Benavides-Nieto ,Frédéric Adam,Emmanuel Martin,Charlotte Boussard ,Chantal Lagresle-Peyrou,Isabelle Callebaut,Alexandre Kauskot,Christelle Repérant,Miao Feng,Jean-Claude Bordet,Martin Castelle,Guillaume Morelle,Chantal Brouzes,Mohammed Zarhrate,Patricia Panikulam,Nathalie Lambert,Capucine Picard ,Damien Bodet,Jérémie Rouger-Gaudichon,Patrick Revy,Jean-Pierre de Villartay,Despina Moshous

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

Human RTEL1 Interacts with KPNB1 (Importin β) and NUP153 and Connects Nuclear Import to Nuclear Envelope Stability in S-Phase

人类 RTEL1 与 KPNB1(Importin β)和 NUP153 相互作用,并将核输入与 S 期核膜稳定性联系起来

Michael Schertzer, Laurent Jullien, André L Pinto, Rodrigo T Calado, Patrick Revy, Arturo Londoño-Vallejo

Imaging quality of an artificial intelligence denoising algorithm: validation in (68)Ga PSMA-11 PET for patients with biochemical recurrence of prostate cancer

人工智能去噪算法的成像质量:在前列腺癌生化复发患者的 (68)Ga PSMA-11 PET 图像中验证

Margail, Charles; Merlin, Charles; Billoux, Tommy; Wallaert, Maxence; Otman, Hosameldin; Sas, Nicolas; Molnar, Ioana; Guillemin, Florent; Boyer, Louis; Guy, Laurent; Tempier, Marion; Levesque, Sophie; Revy, Alban; Cachin, Florent; Chanchou, Marion