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

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

Dual targeting of CDK6 and LSD1 is synergistic and overcomes differentiation blockade in AML

双重靶向 CDK6 和 LSD1 具有协同作用,可克服急性髓系白血病 (AML) 中的分化阻滞。

Lise Brault ,Edwige Voisset ,Mathieu Desaunay ,Antonia Boudet ,Paraskevi Kousteridou ,Sébastien Letard ,Nadine Carbuccia ,Armelle Goubard ,Rémy Castellano ,Yves Collette ,Julien Vernerey ,Isabelle Vigon ,Jean-Max Pasquet ,Patrice Dubreuil ,Sophie Lopez ,Paulo De Sepulveda

Radial Microbrain (Micrencephaly) Is Caused by a Recurrent Variant in the RTTN Gene

放射状小脑畸形(小脑畸形)是由RTTN基因的复发性变异引起的。

Gins, Clarisse; Guimiot, Fabien; Drunat, Séverine; Prévost, Clemence; Rosenblatt, Jonathan; Capri, Yline; Letard, Pascaline; Khung-Savatovsky, Suonavy; Mahi Henni, Mohamed Amine; Elalaoui, Siham Chafai; Alison, Marianne; Guilmin Crepon, Sophie; Gressens, Pierre; Verloes, Alain; Basto, Renata; El Ghouzzi, Vincent; Passemard, Sandrine

TET2 regulates immune tolerance in chronically activated mast cells

TET2 调节慢性活化肥大细胞的免疫耐受

Riccardo Rigo, Rabie Chelbi, Julie Agopian, Sebastien Letard, Aurélien Griffon, Hussein Ghamlouch, Julien Vernerey, Vasileios Ladopoulos, Edwige Voisset, Paulo De Sepulveda, Geoffrey Guittard, Jacques A Nunès, Ghislain Bidaut, Berthold Göttgens, Michael Weber, Olivier A Bernard, Patrice Dubreuil, Er

Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita

未确诊先天性多发性关节挛缩症的表型谱和基因组学

Laquerriere, Annie; Jaber, Dana; Abiusi, Emanuela; Maluenda, Jérome; Mejlachowicz, Dan; Vivanti, Alexandre; Dieterich, Klaus; Stoeva, Radka; Quevarec, Loic; Nolent, Flora; Biancalana, Valerie; Latour, Philippe; Sternberg, Damien; Capri, Yline; Verloes, Alain; Bessieres, Bettina; Loeuillet, Laurence; Attie-Bitach, Tania; Martinovic, Jelena; Blesson, Sophie; Petit, Florence; Beneteau, Claire; Whalen, Sandra; Marguet, Florent; Bouligand, Jerome; Héron, Delphine; Viot, Géraldine; Amiel, Jeanne; Amram, Daniel; Bellesme, Céline; Bucourt, Martine; Faivre, Laurence; Jouk, Pierre-Simon; Khung, Suonavy; Sigaudy, Sabine; Delezoide, Anne-Lise; Goldenberg, Alice; Jacquemont, Marie-Line; Lambert, Laetitia; Layet, Valérie; Lyonnet, Stanislas; Munnich, Arnold; Van Maldergem, Lionel; Piard, Juliette; Guimiot, Fabien; Landrieu, Pierre; Letard, Pascaline; Pelluard, Fanny; Perrin, Laurence; Saint-Frison, Marie-Hélène; Topaloglu, Haluk; Trestard, Laetitia; Vincent-Delorme, Catherine; Amthor, Helge; Barnerias, Christine; Benachi, Alexandra; Bieth, Eric; Boucher, Elise; Cormier-Daire, Valerie; Delahaye-Duriez, Andrée; Desguerre, Isabelle; Eymard, Bruno; Francannet, Christine; Grotto, Sarah; Lacombe, Didier; Laffargue, Fanny; Legendre, Marine; Martin-Coignard, Dominique; Mégarbané, André; Mercier, Sandra; Nizon, Mathilde; Rigonnot, Luc; Prieur, Fabienne; Quélin, Chloé; Ranjatoelina-Randrianaivo, Hanitra; Resta, Nicoletta; Toutain, Annick; Verhelst, Helene; Vincent, Marie; Colin, Estelle; Fallet-Bianco, Catherine; Granier, Michèle; Grigorescu, Romulus; Saada, Julien; Gonzales, Marie; Guiochon-Mantel, Anne; Bessereau, Jean-Louis; Tawk, Marcel; Gut, Ivo; Gitiaux, Cyril; Melki, Judith

Comparison of effects of midostaurin, crenolanib, quizartinib, gilteritinib, sorafenib and BLU-285 on oncogenic mutants of KIT, CBL and FLT3 in haematological malignancies

米哚妥林、crenolanib、quizartinib、gilteritinib、索拉非尼和 BLU-285 对血液系统恶性肿瘤中 KIT、CBL 和 FLT3 致癌突变体的影响比较

Ellen Weisberg, Chengcheng Meng, Abigail E Case, Martin Sattler, Hong L Tiv, Prafulla C Gokhale, Sara J Buhrlage, Xiaoxi Liu, Jing Yang, Jinhua Wang, Nathanael Gray, Richard M Stone, Sophia Adamia, Patrice Dubreuil, Sebastien Letard, James D Griffin

Severe Phenotype of Cutis Laxa Type 1B with Antenatal Signs due to a Novel Homozygous Nonsense Mutation in EFEMP2

由EFEMP2基因中一种新的纯合无义突变引起的1B型皮肤松弛症严重表型伴产前症状

Letard, Pascaline; Schepers, Dorien; Albuisson, Juliette; Bruneval, Patrick; Spaggiari, Emmanuel; Van de Beek, Gerarda; Khung-Savatovsky, Suonavy; Belarbi, Nadia; Capri, Yline; Delezoide, Anne-Lise; Loeys, Bart; Guimiot, Fabien

Dual protein kinase and nucleoside kinase modulators for rationally designed polypharmacology

用于合理设计多药理学的双重蛋白激酶和核苷激酶调节剂

Kahina Hammam, Magali Saez-Ayala, Etienne Rebuffet, Laurent Gros, Sophie Lopez, Berengere Hajem, Martine Humbert, Emilie Baudelet, Stephane Audebert, Stephane Betzi, Adrien Lugari, Sebastien Combes, Sebastien Letard, Nathalie Casteran, Colin Mansfield, Alain Moussy, Paulo De Sepulveda, Xavier Morell

A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH

一项法国多中心研究纳入了700多例经FISH或aCGH诊断为22q11缺失的患者。

Poirsier, Céline; Besseau-Ayasse, Justine; Schluth-Bolard, Caroline; Toutain, Jérôme; Missirian, Chantal; Le Caignec, Cédric; Bazin, Anne; de Blois, Marie Christine; Kuentz, Paul; Catty, Marie; Choiset, Agnès; Plessis, Ghislaine; Basinko, Audrey; Letard, Pascaline; Flori, Elisabeth; Jimenez, Mélanie; Valduga, Mylène; Landais, Emilie; Lallaoui, Hakima; Cartault, François; Lespinasse, James; Martin-Coignard, Dominique; Callier, Patrick; Pebrel-Richard, Céline; Portnoi, Marie-France; Busa, Tiffany; Receveur, Aline; Amblard, Florence; Yardin, Catherine; Harbuz, Radu; Prieur, Fabienne; Le Meur, Nathalie; Pipiras, Eva; Kleinfinger, Pascale; Vialard, François; Doco-Fenzy, Martine

Masitinib (AB1010), a potent and selective tyrosine kinase inhibitor targeting KIT

马赛替尼 (AB1010),一种针对 KIT 的强效选择性酪氨酸激酶抑制剂

Patrice Dubreuil, Sébastien Letard, Marco Ciufolini, Laurent Gros, Martine Humbert, Nathalie Castéran, Laurence Borge, Bérengère Hajem, Anne Lermet, Wolfgang Sippl, Edwige Voisset, Michel Arock, Christian Auclair, Phillip S Leventhal, Colin D Mansfield, Alain Moussy, Olivier Hermine