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

Splice modulation of COL4A5 reinstates collagen IV assembly in an organoid model of Alport syndrome

在Alport综合征类器官模型中,COL4A5的剪接调控可恢复IV型胶原的组装。

Saei, Hassan; Estebe, Bruno; Goudin, Nicolas; Esmailpour, Mahsa; Haure, Julie; Gribouval, Olivier; Arrondel, Christelle; Moriniere, Vincent; Tian, Pinyuan; Lennon, Rachel; Antignac, Corinne; Mollet, Geraldine; Dorval, Guillaume

Disruption of pathways regulated by Integrator complex in Galloway-Mowat syndrome due to WDR73 mutations

由于 WDR73 突变导致 Galloway-Mowat 综合征中整合复合物调控的通路中断

F C Tilley, C Arrondel, C Chhuon, M Boisson, N Cagnard, M Parisot, G Menara, N Lefort, I C Guerrera, C Bole-Feysot, A Benmerah, C Antignac, G Mollet

Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome

由于 GON7 和 YRDC 突变导致 t6A tRNA 修饰缺陷,从而导致 Galloway-Mowat 综合征

Christelle Arrondel, Sophia Missoury, Rozemarijn Snoek, Julie Patat, Giulia Menara, Bruno Collinet, Dominique Liger, Dominique Durand, Olivier Gribouval, Olivia Boyer, Laurine Buscara, Gaëlle Martin, Eduardo Machuca, Fabien Nevo, Ewen Lescop, Daniela A Braun, Anne-Claire Boschat, Sylvia Sanquer, Ida

Endoplasmic reticulum-retained podocin mutants are massively degraded by the proteasome

内质网保留的足蛋白突变体被蛋白酶体大量降解

Maria-Carmen Serrano-Perez, Frances C Tilley, Fabien Nevo, Christelle Arrondel, Selim Sbissa, Gaëlle Martin, Kalman Tory, Corinne Antignac, Géraldine Mollet

A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies

纯合的 KAT2B 变异调节人类和果蝇 ADD3 缺陷的临床表型

Sara Gonçalves, Julie Patat, Maria Clara Guida, Noelle Lachaussée, Christelle Arrondel, Martin Helmstädter, Olivia Boyer, Olivier Gribouval, Marie-Claire Gubler, Geraldine Mollet, Marlène Rio, Marina Charbit, Christine Bole-Feysot, Patrick Nitschke, Tobias B Huber, Patricia G Wheeler, Devon Haynes, 

Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice

GREB1L 突变导致人类和小鼠双侧肾发育不全

Lara De Tomasi, Pierre David, Camille Humbert, Flora Silbermann, Christelle Arrondel, Frédéric Tores, Stéphane Fouquet, Audrey Desgrange, Olivier Niel, Christine Bole-Feysot, Patrick Nitschké, Joëlle Roume, Marie-Pierre Cordier, Christine Pietrement, Bertrand Isidor, Philippe Khau Van Kien, Marie Go

A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS

纤毛基因TTC21B的纯合错义突变会导致家族性局灶节段性肾小球硬化症(FSGS)。

Huynh Cong, Evelyne; Bizet, Albane A; Boyer, Olivia; Woerner, Stéphanie; Gribouval, Olivier; Filhol, Emilie; Arrondel, Christelle; Thomas, Sophie; Silbermann, Flora; Canaud, Guillaume; Hachicha, Jamil; Ben Dhia, Nasr; Peraldi, Marie-Noëlle; Harzallah, Kais; Iftene, Daouia; Daniel, Laurent; Willems, Marjolaine; Noel, Laure-Hélène; Bole-Feysot, Christine; Nitschké, Patrick; Gubler, Marie-Claire; Mollet, Géraldine; Saunier, Sophie; Antignac, Corinne

Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome

WDR73基因功能缺失突变是导致小头畸形和激素抵抗性肾病综合征(加洛韦-莫瓦特综合征)的原因。

Colin, Estelle; Huynh Cong, Evelyne; Mollet, Géraldine; Guichet, Agnès; Gribouval, Olivier; Arrondel, Christelle; Boyer, Olivia; Daniel, Laurent; Gubler, Marie-Claire; Ekinci, Zelal; Tsimaratos, Michel; Chabrol, Brigitte; Boddaert, Nathalie; Verloes, Alain; Chevrollier, Arnaud; Gueguen, Naig; Desquiret-Dumas, Valérie; Ferré, Marc; Procaccio, Vincent; Richard, Laurence; Funalot, Benoit; Moncla, Anne; Bonneau, Dominique; Antignac, Corinne

A murine model of Denys-Drash syndrome reveals novel transcriptional targets of WT1 in podocytes

Denys-Drash 综合征小鼠模型揭示足细胞中 WT1 的新转录靶点

Julien Ratelade, Christelle Arrondel, Ghislaine Hamard, Serge Garbay, Scott Harvey, Nathalie Biebuyck, Herbert Schulz, Nick Hastie, Marco Pontoglio, Marie-Claire Gubler, Corinne Antignac, Laurence Heidet

Discovery of microvascular miRNAs using public gene expression data: miR-145 is expressed in pericytes and is a regulator of Fli1

使用公共基因表达数据发现微血管 miRNA:miR-145 在周细胞中表达,是 Fli1 的调节剂

Erik Larsson, Peder Fredlund Fuchs, Johan Heldin, Irmeli Barkefors, Cecilia Bondjers, Guillem Genové, Christelle Arrondel, Pär Gerwins, Christine Kurschat, Bernhard Schermer, Thomas Benzing, Scott J Harvey, Johan Kreuger, Per Lindahl