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

De novo variants in LRRC8C resulting in constitutive channel activation cause a human multisystem disorder

LRRC8C基因的新生突变导致通道持续激活,从而引发人类多系统疾病。

Mathieu Quinodoz # ,Sonja Rutz # ,Virginie Peter # ,Livia Garavelli # ,A Micheil Innes # ,Elena F Lehmann ,Stephan Kellenberger ,Zhong Peng ,Angelica Barone ,Belinda Campos-Xavier ,Sheila Unger ,Carlo Rivolta ,Raimund Dutzler ,Andrea Superti-Furga

Generation of a Double Reporter mES Cell Line to Simultaneously Trace the Generation of Retinal Progenitors and Photoreceptors

构建双报告基因小鼠胚胎干细胞系,以同时追踪视网膜祖细胞和感光细胞的生成

Oleksandr Zabiegalov ,Adeline Berger ,Dhryata Kamdar ,Kabirou Adamou ,Chuanxi Tian ,Martial Mbefo ,Mathieu Quinodoz ,Florian Udry ,Carlo Rivolta ,Corinne Kostic ,Yvan Arsenijevic

Herpes simplex encephalitis due to a mutation in an E3 ubiquitin ligase

E3 泛素连接酶突变导致的单纯疱疹性脑炎

Stéphanie Bibert, Mathieu Quinodoz #, Sylvain Perriot #, Fanny S Krebs, Maxime Jan, Rita C Malta, Emilie Collinet, Mathieu Canales, Amandine Mathias, Nicole Faignart, Eliane Roulet-Perez, Pascal Meylan, René Brouillet, Onya Opota, Leyder Lozano-Calderon, Florence Fellmann, Nicolas Guex, Vincent Zoet

Bi-allelic variants in COQ8B, a gene involved in the biosynthesis of coenzyme Q10, lead to non-syndromic retinitis pigmentosa

COQ8B(一种参与辅酶 Q10 生物合成的基因)的双等位基因变异会导致非综合征性视网膜色素变性

Ana Belén Iglesias-Romero, Karolina Kaminska, Mathieu Quinodoz, Marc Folcher, Siying Lin, Gavin Arno, Joaquim Calado, Andrew R Webster, Alexandre Moulin, Ana Berta Sousa, Luisa Coutinho-Santos, Cristina Santos, Carlo Rivolta0

Substitution of a single non-coding nucleotide upstream of TMEM216 causes non-syndromic retinitis pigmentosa and is associated with reduced TMEM216 expression

TMEM216 上游单个非编码核苷酸的替换会导致非综合征性视网膜色素变性,并与 TMEM216 表达降低有关

Samantha Malka, Pooja Biswas, Anne-Marie Berry, Riccardo Sangermano, Mukhtar Ullah, Siying Lin, Matteo D'Antonio, Aleksandr Jestin, Xiaodong Jiao, Mathieu Quinodoz, Lori Sullivan, Jessica C Gardner, Emily M Place, Michel Michaelides, Karolina Kaminska, Omar A Mahroo, Elena Schiff, Genevieve Wright, 

TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa

TBC1D32 变异会破坏视网膜纤毛生成并导致视网膜色素变性

Béatrice Bocquet, Caroline Borday, Nejla Erkilic, Daria Mamaeva, Alicia Donval, Christel Masson, Karine Parain, Karolina Kaminska, Mathieu Quinodoz, Irene Perea-Romero, Gema Garcia-Garcia, Carla Jimenez-Medina, Hassan Boukhaddaoui, Arthur Coget, Nicolas Leboucq, Giacomo Calzetti, Stefano Gandolfi, A

Fast and highly sensitive full-length single-cell RNA sequencing using FLASH-seq

使用 FLASH-seq 进行快速、高灵敏度的全长单细胞 RNA 测序

Vincent Hahaut, Dinko Pavlinic, Walter Carbone, Sven Schuierer, Pierre Balmer, Mathieu Quinodoz, Magdalena Renner, Guglielmo Roma, Cameron S Cowan, Simone Picelli

Mutations in the ribosome biogenesis factor gene LTV1 are linked to LIPHAK syndrome, a novel poikiloderma-like disorder

核糖体生物合成因子基因 LTV1 的突变与 LIPHAK 综合征有关,这是一种新型皮肤异色症样疾病

Ji Hoon Han, Gavin Ryan, Alyson Guy, Lu Liu, Mathieu Quinodoz, Ingrid Helbling, Joey E Lai-Cheong; Genomics England Research Consortium; Julian Barwell, Marc Folcher, John A McGrath, Celia Moss, Carlo Rivolta

Identification of New Vulnerabilities in Conjunctival Melanoma Using Image-Based High Content Drug Screening

使用基于图像的高内涵药物筛选识别结膜黑色素瘤的新弱点

Katya Nardou, Michael Nicolas, Fabien Kuttler, Katarina Cisarova, Elifnaz Celik, Mathieu Quinodoz, Nicolo Riggi, Olivier Michielin, Carlo Rivolta, Gerardo Turcatti, Alexandre Pierre Moulin

CEP78 functions downstream of CEP350 to control biogenesis of primary cilia by negatively regulating CP110 levels

CEP78位于CEP350的下游,通过负调控CP110水平来控制初级纤毛的生物合成。

André Brás Gonçalves ,Sarah Kirstine Hasselbalch # ,Beinta Biskopstø Joensen # ,Sebastian Patzke ,Pernille Martens ,Signe Krogh Ohlsen ,Mathieu Quinodoz ,Konstantinos Nikopoulos ,Reem Suleiman ,Magnus Per Damsø Jeppesen ,Catja Weiss ,Søren Tvorup Christensen ,Carlo Rivolta ,Jens S Andersen ,Pietro Farinelli ,Lotte Bang Pedersen