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

Case Report: Hypomorphic Ligase 4 deficiency - a paradigm of immunodysregulation

病例报告:低活性连接酶4缺乏症——免疫失调的典型案例

Andrade, Catarina; Cordeiro, Ana Isabel; Pinto, Marta Valente; Neves, Conceição; Martins, Catarina; Villartay, Jean-Pierre; Neves, João Farela

XRCC4-related microcephalic primordial dwarfism: description of a clinical series of 7 cases, phenotype expansion and new diagnostic approaches

XRCC4相关性小头畸形原始侏儒症:7例临床病例系列描述、表型扩展及新的诊断方法

Cuinat, Silvestre; Chatron, Nicolas; Petit, Florence; Brunelle, Perrine; Dincuff, Etienne; Aubert Mucca, Marion; Bieth, Eric; Schmetz, Ariane; Rieder, Harald; Wollnik, Bernd; Kaulfuß, Silke; Yigit, Gökhan; McKeown, Colina; Savage, Tim; Mulligan, Meghan R; Bicknell, Louise S; Corsten-Janssen, Nicole; Edery, Patrick; Lesca, Gaetan; de Villartay, Jean-Pierre; Putoux, Audrey

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

Comparative analyses of Netherton syndrome patients and Spink5 conditional knock-out mice uncover disease-relevant pathways

对内瑟顿综合征患者和Spink5条件性敲除小鼠的比较分析揭示了与疾病相关的通路

Evgeniya Petrova ,Jesús María López-Gay ,Matthias Fahrner ,Florent Leturcq ,Jean-Pierre de Villartay ,Claire Barbieux ,Patrick Gonschorek ,Lam C Tsoi ,Johann E Gudjonsson ,Oliver Schilling ,Alain Hovnanian

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

Base-editing-mediated dissection of a γ-globin cis-regulatory element for the therapeutic reactivation of fetal hemoglobin expression

碱基编辑介导的 γ 珠蛋白顺式调控元件的分离,用于治疗性地重新激活胎儿血红蛋白的表达

Panagiotis Antoniou, Giulia Hardouin, Pierre Martinucci, Giacomo Frati, Tristan Felix, Anne Chalumeau, Letizia Fontana, Jeanne Martin, Cecile Masson, Megane Brusson, Giulia Maule, Marion Rosello, Carine Giovannangeli, Vincent Abramowski, Jean-Pierre de Villartay, Jean-Paul Concordet, Filippo Del Ben

Radiosensitivity in patients affected by ARPC1B deficiency: a new disease trait?

ARPC1B 缺陷患者的放射敏感性:一种新的疾病特征?

Chiriaco, Maria; Ursu, Giorgiana Madalina; Amodio, Donato; Cotugno, Nicola; Volpi, Stefano; Berardinelli, Francesco; Pizzi, Simone; Cifaldi, Cristina; Zoccolillo, Matteo; Prigione, Ignazia; Di Cesare, Silvia; Giancotta, Carmela; Anastasio, Elisa; Rivalta, Beatrice; Pacillo, Lucia; Zangari, Paola; Fiocchi, Alessandro G; Diociaiuti, Andrea; Bruselles, Alessandro; Pantaleoni, Francesca; Ciolfi, Andrea; D'Oria, Valentina; Palumbo, Giuseppe; Gattorno, Marco; El Hachem, Maya; de Villartay, Jean-Pierre; Finocchi, Andrea; Palma, Paolo; Rossi, Paolo; Tartaglia, Marco; Aiuti, Alessandro; Antoccia, Antonio; Di Matteo, Gigliola; Cancrini, Caterina

Indispensable epigenetic control of thymic epithelial cell development and function by polycomb repressive complex 2

多梳抑制复合物2对胸腺上皮细胞发育和功能发挥着不可或缺的表观遗传调控作用

Barthlott, Thomas; Handel, Adam E; Teh, Hong Ying; Wirasinha, Rushika C; Hafen, Katrin; Žuklys, Saulius; Roch, Benoit; Orkin, Stuart H; de Villartay, Jean-Pierre; Daley, Stephen R; Holländer, Georg A

A Disease-Causing Single Amino Acid Deletion in the Coiled-Coil Domain of RAD50 Impairs MRE11 Complex Functions in Yeast and Humans

RAD50卷曲螺旋结构域中致病性单氨基酸缺失会损害酵母和人类的MRE11复合物功能

Marie Chansel-Da Cruz ,Marcel Hohl ,Ilaria Ceppi ,Laëtitia Kermasson ,Laurence Maggiorella ,Mauro Modesti ,Jean-Pierre de Villartay ,Talia Ileri ,Petr Cejka ,John H J Petrini ,Patrick Revy