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

Pharmacological stabilization of hypoxia-inducible factor 1-α dampens the interferon response and promotes glycolysis in Aicardi-Goutières syndrome

药物稳定缺氧诱导因子 1-α 可抑制干扰素反应并促进艾卡迪-古蒂埃综合征中的糖酵解。

Batignes, Maxime; Luka, Marine; Jagtap, Surabhi; de Cevins, Camille; Nemazanyy, Ivan; Leib, Jacqueline; Fali, Tinhinane; Pierga, Alexandre; Zarhrate, Mohammed; García-Paredes, Víctor; Carbone, Francesco; Pérot, Brieuc P; Neven, Bénédicte; Bader-Meunier, Brigitte; Quartier, Pierre; Hully, Marie; Belot, Alexandre; Lepelley, Alice; Frémond, Marie-Louise; Fischer, Alain; Ménager, Mickaël M

Dkk1 inhibition restores mandibular growth in an achondroplasia mouse model

Dkk1抑制剂可恢复软骨发育不全小鼠模型的下颌骨生长

Raveendranathan, Briantana; Estibals, Valentin; Pulido, Eric; Lemoine, Clara; Kaci, Nabil; Pereur, Rachel; Zarhrate, Mohammed; Dupichaud, Sébastien; Dambroise, Emilie; Legeai-Mallet, Laurence; Biosse Duplan, Martin

MMS22L is a novel key actor of normal and pathological erythropoiesis

MMS22L是正常和病理性红细胞生成过程中的一个新型关键因子

Colin, Elia; Ferrer-Vicens, Ivan; Brook, Dror; Salma, Mohammad; Andrieu-Soler, Charlotte; Bayard, Elisa; Fernandes, Alicia; Brouzes, Chantal; Lefèvre, Carine; Duval, Romain; Dussiot, Michaël; Trovati, Thiago; Courtois, Geneviève; Azouzi, Slim; Zarhrate, Mohammed; Lambilliotte, Anne; Park, Sophie; Carpentier, Benjamin; Colard, Martin; Manceau, Sandra; Moshous, Despina; Mayeux, Patrick; Gautier, Emilie-Fleur; Miccio, Annarita; Soulier, Jean; Vainchenker, William; Shlush, Liran; Da Costa, Lydie; Frayne, Jan; Soler, Eric; Hermine, Olivier; Couronné, Lucile

MEK-SHP2 inhibition prevents tibial pseudarthrosis caused by NF1 loss in Schwann cells and skeletal stem/progenitor cells

MEK-SHP2抑制剂可预防由雪旺细胞和骨骼干/祖细胞中NF1缺失引起的胫骨假关节形成。

Perrin, Simon; Protic, Sanela; Bretegnier, Vincent; Laurendeau, Ingrid; de Lageneste, Oriane Duchamp; Panara, Nicolas; Ruckebusch, Odile; Luka, Marine; Masson, Cécile; Maillard, Théodora; Coulpier, Fanny; Pannier, Stéphanie; Wicart, Philippe; Hadj-Rabia, Smail; Radomska, Katarzyna J; Zarhrate, Mohammed; Ménager, Mickael; Vidaud, Dominique; Topilko, Piotr; Parfait, Béatrice; Colnot, Céline

Congenital microcoria deletion in mouse links Sox21 dysregulation to disease and suggests a role for TGFB2 in glaucoma and myopia.

小鼠先天性小角膜缺失将 Sox21 失调与疾病联系起来,并表明 TGFB2 在青光眼和近视中发挥作用

Erjavec Elisa, Angée Clémentine, Hadjadj Djihad, Passet Bruno, David Pierre, Kostic Corinne, Dodé Emmanuel, Zanlonghi Xavier, Cagnard Nicolas, Nedelec Brigitte, Crippa Sylvain V, Bole-Feysot Christine, Zarhrate Mohammed, Creuzet Sophie, Castille Johan, Vilotte Jean-Luc, Calvas Patrick, Plaisancié Julie, Chassaing Nicolas, Kaplan Josseline, Rozet Jean-Michel, Fares Taie L

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

Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation

IPO8基因的双等位基因变异会导致结缔组织疾病,该疾病与心血管缺陷、骨骼异常和免疫失调有关。

Ziegler, Alban; Duclaux-Loras, Rémi; Revenu, Céline; Charbit-Henrion, Fabienne; Begue, Bernadette; Duroure, Karine; Grimaud, Linda; Guihot, Anne Laure; Desquiret-Dumas, Valérie; Zarhrate, Mohammed; Cagnard, Nicolas; Mas, Emmanuel; Breton, Anne; Edouard, Thomas; Billon, Clarisse; Frank, Michael; Colin, Estelle; Lenaers, Guy; Henrion, Daniel; Lyonnet, Stanislas; Faivre, Laurence; Alembik, Yves; Philippe, Anaïs; Moulin, Bruno; Reinstein, Eyal; Tzur, Shay; Attali, Ruben; McGillivray, George; White, Susan M; Gallacher, Lyndon; Kutsche, Kerstin; Schneeberger, Pauline; Girisha, Katta M; Nayak, Shalini S; Pais, Lynn; Maroofian, Reza; Rad, Aboulfazl; Vona, Barbara; Karimiani, Ehsan Ghayoor; Lekszas, Caroline; Haaf, Thomas; Martin, Ludovic; Ruemmele, Frank; Bonneau, Dominique; Cerf-Bensussan, Nadine; Del Bene, Filippo; Parlato, Marianna

Severe type I interferonopathy and unrestrained interferon signaling due to a homozygous germline mutation in STAT2

STAT2基因纯合种系突变导致严重的I型干扰素病和不受控制的干扰素信号传导。

Duncan, Christopher J A; Thompson, Benjamin J; Chen, Rui; Rice, Gillian I; Gothe, Florian; Young, Dan F; Lovell, Simon C; Shuttleworth, Victoria G; Brocklebank, Vicky; Corner, Bronte; Skelton, Andrew J; Bondet, Vincent; Coxhead, Jonathan; Duffy, Darragh; Fourrage, Cecile; Livingston, John H; Pavaine, Julija; Cheesman, Edmund; Bitetti, Stephania; Grainger, Angela; Acres, Meghan; Innes, Barbara A; Mikulasova, Aneta; Sun, Ruyue; Hussain, Rafiqul; Wright, Ronnie; Wynn, Robert; Zarhrate, Mohammed; Zeef, Leo A H; Wood, Katrina; Hughes, Stephen M; Harris, Claire L; Engelhardt, Karin R; Crow, Yanick J; Randall, Richard E; Kavanagh, David; Hambleton, Sophie; Briggs, Tracy A

Identification of an Endoglin Variant Associated With HCV-Related Liver Fibrosis Progression by Next-Generation Sequencing

利用新一代测序技术鉴定与丙型肝炎病毒相关肝纤维化进展相关的内皮糖蛋白变异体

About, Frédégonde; Bibert, Stéphanie; Jouanguy, Emmanuelle; Nalpas, Bertrand; Lorenzo, Lazaro; Rattina, Vimel; Zarhrate, Mohammed; Hanein, Sylvain; Munteanu, Mona; Müllhaupt, Beat; Semela, David; Semmo, Nasser; Casanova, Jean-Laurent; Theodorou, Ioannis; Sultanik, Philippe; Poynard, Thierry; Pol, Stanislas; Bochud, Pierre-Yves; Cobat, Aurélie; Abel, Laurent

Integrin alpha 8 recessive mutations are responsible for bilateral renal agenesis in humans.

整合素α8隐性突变是人类双侧肾脏发育不全的原因

Humbert Camille, Silbermann Flora, Morar Bharti, Parisot Mélanie, Zarhrate Mohammed, Masson Cécile, Tores Frédéric, Blanchet Patricia, Perez Marie-José, Petrov Yuliya, Khau Van Kien Philippe, Roume Joelle, Leroy Brigitte, Gribouval Olivier, Kalaydjieva Luba, Heidet Laurence, Salomon Rémi, Antignac Corinne, Benmerah Alexandre, Saunier Sophie, Jeanpierre Cécile