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

No Correlation Between Interferon Signaling and Cytosolic Mitochondrial DNA/RNA Leakage in Cultured Skin Fibroblasts of Patients With Mitochondrial Diseases.

线粒体疾病患者培养的皮肤成纤维细胞中干扰素信号传导与胞质线粒体DNA/RNA泄漏之间无相关性。

Marchais Manon, Pennisi Alessandra, Pierga Alexandre, Lepelley Alice, Cagnard Nicolas, Bole Christine, Nitschke Patrick, Hamici Mohamed, Rieux-Laucat Frédéric, Schiff Manuel, Munnich Arnold, Rötig Agnès

Autoinflammatory encephalopathy due to PTPN1 haploinsufficiency: a case series

PTPN1单倍体功能不全引起的自身炎症性脑病:病例系列

Zhu, Gaofeng; Didry-Barca, Blaise; Seabra, Luis; Rice, Gillian I; Uggenti, Carolina; Touimy, Moncef; Rodero, Mathieu P; Trapero, Rolando Hernandez; Bondet, Vincent; Duffy, Darragh; Gautier, Philippe; Livingstone, Katie; Sutherland, Fraser J H; Lebon, Pierre; Parisot, Mélanie; Bole-Feysot, Christine; Masson, Cécile; Cagnard, Nicolas; Nitschké, Patrick; Anderson, Glenn; Assmann, Birgit; Barth, Magalie; Boespflug-Tanguy, Odile; D'Arco, Felice; Dorboz, Imen; Giese, Thomas; Hacohen, Yael; Hancarova, Miroslava; Husson, Marie; Lepine, Anne; Lim, Ming; Mancardi, Maria Margherita; Melki, Isabelle; Neubauer, David; Sa, Mario; Sedlacek, Zdenek; Seitz, Angelika; Rottman, Mika Shapiro; Sanquer, Sylvia; Straussberg, Rachel; Vlčková, Markéta; Villéga, Frédéric; Wagner, Matias; Zerem, Ayelet; Marsh, Joseph A; Frémond, Marie-Louise; Kaliakatsos, Marios; Crow, Yanick J; El-Daher, Marie-Thérèse; Lepelley, Alice

Kinesin-1 coordinates cross-talk between microtubule and actin cytoskeletons during dendritic cell migration

在树突状细胞迁移过程中,驱动蛋白-1协调微管和肌动蛋白细胞骨架之间的相互作用

Pierre Duquesne ,Céline Aoun ,Mathieu Kurowska ,Brieuc P Perot ,Kerui Zhang ,Mounia Debili ,Mirjana Weimershaus ,François-Xavier Mauvais ,Nicolas Cagnard ,Nicolas Goudin ,Bernardita Medel ,Juan Eduardo Montero-Hermández ,Linda Diedhiou ,Jian-Dong Huang ,Alain Fischer ,Geneviève de Saint Basile ,Mickaël M Ménager ,Pablo Vargas ,Fernando E Sepulveda ,Gaël Ménasché

Prostaglandin Analogs and Eupatilin as Treatments for Nephronophthisis.

前列腺素类似物和 Eupatilin 作为肾痨的治疗方法

Tata Alice, Rocha Guillaume, Hureaux Marguerite, Serafin Alice S, Porée Esther, Menguy Lucie, Goudin Nicolas, Cagnard Nicolas, Gréau Lilian, Fila Marc, Briseño-Roa Luis, Annereau Jean-Philippe, Saunier Sophie, Benmerah Alexandre

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

Compound heterozygous mutations in the kinase domain of IKKα lead to immunodeficiency and immune dysregulation

IKKα激酶结构域的复合杂合突变会导致免疫缺陷和免疫失调。

Riller, Quentin; Sorin, Boris; Courteille, Charline; Ho-Nhat, Duong; Voyer, Tom Le; Debray, Jean-Christophe; Stolzenberg, Marie-Claude; Pellé, Olivier; Becquard, Thomas; Riestra, María Rodrigo; Berteloot, Laureline; Migaud, Mélanie; Delage, Laure; Jeanpierre, Marie; Boussard, Charlotte; Brunaud, Camille; Magérus, Aude; Michel, Victor; Roux, Camille; Picard, Capucine; Masson, Cécile; Bole-Feysot, Christine; Cagnard, Nicolas; Corneau, Aurélien; Meyts, Isabelle; Baud, Véronique; Casanova, Jean-Laurent; Fischer, Alain; Dejardin, Emmanuel; Puel, Anne; Boulanger, Cécile; Neven, Bénédicte; Rieux-Laucat, Frédéric

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

Clonal tracking in gene therapy patients reveals a diversity of human hematopoietic differentiation programs

基因治疗患者的克隆追踪揭示了人类造血分化程序的多样性

Six, Emmanuelle; Guilloux, Agathe; Denis, Adeline; Lecoules, Arnaud; Magnani, Alessandra; Vilette, Romain; Male, Frances; Cagnard, Nicolas; Delville, Marianne; Magrin, Elisa; Caccavelli, Laure; Roudaut, Cécile; Plantier, Clemence; Sobrino, Steicy; Gregg, John; Nobles, Christopher L; Everett, John K; Hacein-Bey-Abina, Salima; Galy, Anne; Fischer, Alain; Thrasher, Adrian J; André, Isabelle; Cavazzana, Marina; Bushman, Frederic D

IL-15 superagonist RLI has potent immunostimulatory properties on NK cells: implications for antimetastatic treatment

IL-15 超激动剂 RLI 对 NK 细胞具有强大的免疫刺激作用:对转移治疗的意义

Desbois, Mélanie; Béal, Coralie; Charrier, Mélinda; Besse, Benjamin; Meurice, Guillaume; Cagnard, Nicolas; Jacques, Yannick; Béchard, David; Cassard, Lydie; Chaput, Nathalie

A variant erythroferrone disrupts iron homeostasis in SF3B1-mutated myelodysplastic syndrome

一种变异的红细胞生成素会破坏SF3B1突变型骨髓增生异常综合征中的铁稳态

Bondu, Sabrina; Alary, Anne-Sophie; Lefèvre, Carine; Houy, Alexandre; Jung, Grace; Lefebvre, Thibaud; Rombaut, David; Boussaid, Ismael; Bousta, Abderrahmane; Guillonneau, François; Perrier, Prunelle; Alsafadi, Samar; Wassef, Michel; Margueron, Raphaël; Rousseau, Alice; Droin, Nathalie; Cagnard, Nicolas; Kaltenbach, Sophie; Winter, Susann; Kubasch, Anne-Sophie; Bouscary, Didier; Santini, Valeria; Toma, Andrea; Hunault, Mathilde; Stamatoullas, Aspasia; Gyan, Emmanuel; Cluzeau, Thomas; Platzbecker, Uwe; Adès, Lionel; Puy, Hervé; Stern, Marc-Henri; Karim, Zoubida; Mayeux, Patrick; Nemeth, Elizabeta; Park, Sophie; Ganz, Tomas; Kautz, Léon; Kosmider, Olivier; Fontenay, Michaëla