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

A Taybi-Linder syndrome-related RTTN variant impedes neural rosette formation in human cortical organoids

Taybi-Linder 综合征相关的 RTTN 变体阻碍了人类皮质类器官中神经花结的形成

Justine Guguin, Ting-Yu Chen, Silvestre Cuinat, Alicia Besson, Eloïse Bertiaux, Lucile Boutaud, Nolan Ardito, Miren Imaz Murguiondo, Sara Cabet, Virginie Hamel, Sophie Thomas, Bertrand Pain, Patrick Edery, Audrey Putoux, Tang K Tang, Sylvie Mazoyer, Marion Delous

Mutations in the non-coding RNU4ATAC gene affect the homeostasis and function of the Integrator complex

非编码基因RNU4ATAC的突变会影响整合体复合物的稳态和功能。

Almentina Ramos Shidi, Fatimat; Cologne, Audric; Delous, Marion; Besson, Alicia; Putoux, Audrey; Leutenegger, Anne-Louise; Lacroix, Vincent; Edery, Patrick; Mazoyer, Sylvie; Bordonné, Rémy

Fluid shear stress triggers cholesterol biosynthesis and uptake in inner medullary collecting duct cells, independently of nephrocystin-1 and nephrocystin-4

流体剪切应力触发内髓集合管细胞中胆固醇的生物合成和吸收,与肾囊素-1和肾囊素-4无关

Meriem Garfa Traoré, Federica Roccio, Caterina Miceli, Giulia Ferri, Mélanie Parisot, Nicolas Cagnard, Marie Lhomme, Nicolas Dupont, Alexandre Benmerah, Sophie Saunier, Marion Delous

A missense mutation in the proprotein convertase gene furinb causes hepatic cystogenesis during liver development in zebrafish

斑马鱼肝脏发育过程中,前蛋白转化酶基因furinb的错义突变会导致肝囊肿形成。

Ellis, Jillian L; Evason, Kimberley J; Zhang, Changwen; Fourman, Makenzie N; Liu, Jiandong; Ninov, Nikolay; Delous, Marion; Vanhollebeke, Benoit; Fiddes, Ian; Otis, Jessica P; Houvras, Yariv; Farber, Steven A; Xu, Xiaolei; Lin, Xueying; Stainier, Didier Y R; Yin, Chunyue

Clinical interpretation of variants identified in RNU4ATAC, a non-coding spliceosomal gene

对非编码剪接体基因 RNU4ATAC 中发现的变异进行临床解读

Benoit-Pilven, Clara; Besson, Alicia; Putoux, Audrey; Benetollo, Claire; Saccaro, Clément; Guguin, Justine; Sala, Gabriel; Cologne, Audric; Delous, Marion; Lesca, Gaetan; Padgett, Richard A; Leutenegger, Anne-Louise; Lacroix, Vincent; Edery, Patrick; Mazoyer, Sylvie

Loss-of-function mutations in KIF14 cause severe microcephaly and kidney development defects in humans and zebrafish

KIF14基因的功能缺失突变会导致人类和斑马鱼出现严重的头小畸形和肾脏发育缺陷。

Madeline Louise Reilly ,Marijn F Stokman ,Virginie Magry ,Cecile Jeanpierre ,Marine Alves ,Mohammadjavad Paydar ,Jacqueline Hellinga ,Marion Delous ,Daniel Pouly ,Marion Failler ,Jelena Martinovic ,Laurence Loeuillet ,Brigitte Leroy ,Julia Tantau ,Joelle Roume ,Cheryl Y Gregory-Evans ,Xianghong Shan ,Isabel Filges ,John S Allingham ,Benjamin H Kwok ,Sophie Saunier ,Rachel H Giles ,Alexandre Benmerah

Functional characterization of tektin-1 in motile cilia and evidence for TEKT1 as a new candidate gene for motile ciliopathies

tektin-1 在运动纤毛中的功能表征及 TEKT1 作为运动纤毛病新候选基因的证据

Rebecca Ryan, Marion Failler, Madeline Louise Reilly, Meriem Garfa-Traore, Marion Delous, Emilie Filhol, Thérèse Reboul, Christine Bole-Feysot, Patrick Nitschké, Véronique Baudouin, Serge Amselem, Estelle Escudier, Marie Legendre, Alexandre Benmerah, Sophie Saunier

Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis

MAPKBP1基因突变导致青少年或晚发性纤毛非依赖性肾痨

Macia, Maxence S; Halbritter, Jan; Delous, Marion; Bredrup, Cecilie; Gutter, Arthur; Filhol, Emilie; Mellgren, Anne E C; Leh, Sabine; Bizet, Albane; Braun, Daniela A; Gee, Heon Y; Silbermann, Flora; Henry, Charline; Krug, Pauline; Bole-Feysot, Christine; Nitschké, Patrick; Joly, Dominique; Nicoud, Philippe; Paget, André; Haugland, Heidi; Brackmann, Damien; Ahmet, Nayir; Sandford, Richard; Cengiz, Nurcan; Knappskog, Per M; Boman, Helge; Linghu, Bolan; Yang, Fan; Oakeley, Edward J; Saint Mézard, Pierre; Sailer, Andreas W; Johansson, Stefan; Rødahl, Eyvind; Saunier, Sophie; Hildebrandt, Friedhelm; Benmerah, Alexandre

Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis

MAPKBP1基因突变导致青少年或晚发性纤毛非依赖性肾痨

Maxence S Macia ,Jan Halbritter ,Marion Delous ,Cecilie Bredrup ,Arthur Gutter ,Emilie Filhol ,Anne E C Mellgren ,Sabine Leh ,Albane Bizet ,Daniela A Braun ,Heon Y Gee ,Flora Silbermann ,Charline Henry ,Pauline Krug ,Christine Bole-Feysot ,Patrick Nitschké ,Dominique Joly ,Philippe Nicoud ,André Paget ,Heidi Haugland ,Damien Brackmann ,Nayir Ahmet ,Richard Sandford ,Nurcan Cengiz ,Per M Knappskog ,Helge Boman ,Bolan Linghu ,Fan Yang ,Edward J Oakeley ,Pierre Saint Mézard ,Andreas W Sailer ,Stefan Johansson ,Eyvind Rødahl ,Sophie Saunier ,Friedhelm Hildebrandt ,Alexandre Benmerah

Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome

隐性和显性从头发生的ITPR1突变导致吉莱斯皮综合征

Gerber, Sylvie; Alzayady, Kamil J; Burglen, Lydie; Brémond-Gignac, Dominique; Marchesin, Valentina; Roche, Olivier; Rio, Marlène; Funalot, Benoit; Calmon, Raphaël; Durr, Alexandra; Gil-da-Silva-Lopes, Vera Lucia; Ribeiro Bittar, Maria Fernanda; Orssaud, Christophe; Héron, Bénédicte; Ayoub, Edward; Berquin, Patrick; Bahi-Buisson, Nadia; Bole, Christine; Masson, Cécile; Munnich, Arnold; Simons, Matias; Delous, Marion; Dollfus, Helene; Boddaert, Nathalie; Lyonnet, Stanislas; Kaplan, Josseline; Calvas, Patrick; Yule, David I; Rozet, Jean-Michel; Fares Taie, Lucas