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

Constitutional mismatch repair deficiency mimicking Lynch syndrome is associated with hypomorphic mismatch repair gene variants

类似于林奇综合征的体质性错配修复缺陷与次等位基因错配修复基因变异有关

Richard Gallon, Carlijn Brekelmans, Marie Martin, Vincent Bours, Esther Schamschula, Albert Amberger, Martine Muleris, Chrystelle Colas, Jeroen Dekervel, Gert De Hertogh, Jérôme Coupier, Orphal Colleye, Edith Sepulchre, John Burn, Hilde Brems, Eric Legius, Katharina Wimmer

Legius syndrome mutations in the Ras-regulator SPRED1 abolish its membrane localization and potentially cause neurodegeneration

Legius综合征中Ras调节因子SPRED1的突变会破坏其膜定位,并可能导致神经退行性变。

Yasuko Hirata ,Hilde Brems ,Seppe Van der Auweraer ,Masaki Ohyagi ,Mana Iizuka ,Setsuko Mise-Omata ,Minako Ito ,Ludwine Messiaen ,Seiya Mizuno ,Satoru Takahashi ,Eric Legius ,Akihiko Yoshimura

Pigment epithelium derived factor drives melanocyte proliferation and migration in neurofibromatosis café au lait macules

色素上皮衍生因子驱动神经纤维瘤病咖啡牛奶斑中的黑素细胞增殖和迁移

Charlotte Lovatt, Megan Williams, Alex Gibbs, Abdullahi Mukhtar, Huw J Morgan, Simone Lanfredini, Carlotta Olivero, Gill Spurlock, Sally Davies, Charlotte Philpott, Hannah Tovell, Peter Turnpenny, Dilair Baban, Sam Knight, Hilde Brems, Julian R Sampson, Eric Legius, Meena Upadhyaya, Girish K Patel

SREBP modulates the NADP+/NADPH cycle to control night sleep in Drosophila

SREBP调节NADP+/NADPH循环以控制果蝇的夜间睡眠

Vittoria Mariano ,Alexandros K Kanellopoulos ,Giuseppe Aiello ,Adrian C Lo ,Eric Legius ,Tilmann Achsel ,Claudia Bagni

Deep genomic analysis of malignant peripheral nerve sheath tumor cell lines challenges current malignant peripheral nerve sheath tumor diagnosis

恶性周围神经鞘瘤细胞系的深度基因组分析挑战当前的恶性周围神经鞘瘤诊断

Miriam Magallón-Lorenz, Ernest Terribas, Sara Ortega-Bertran, Edgar Creus-Bachiller, Marco Fernández, Gerard Requena, Inma Rosas, Helena Mazuelas, Itziar Uriarte-Arrazola, Alex Negro, Tereza Lausová, Elisabeth Castellanos, Ignacio Blanco, George DeVries, Hiroyuki Kawashima, Eric Legius, Hilde Brems,

MEK inhibition ameliorates social behavior phenotypes in a Spred1 knockout mouse model for RASopathy disorders

MEK 抑制可改善 RASopathy 疾病的 Spred1 基因敲除小鼠模型中的社交行为表型

Sarah C Borrie, Ellen Plasschaert, Zsuzsanna Callaerts-Vegh, Akihiko Yoshimura, Rudi D'Hooge, Ype Elgersma, Steven A Kushner, Eric Legius, Hilde Brems

NF1 patient missense variants predict a role for ATM in modifying neurofibroma initiation

NF1 患者错义变异预测 ATM 在改变神经纤维瘤发生中的作用

Yanan Yu, Kwangmin Choi, Jianqiang Wu, Paul R Andreassen, Phillip J Dexheimer, Mehdi Keddache, Hilde Brems, Robert J Spinner, Jose A Cancelas, Lisa J Martin, Margaret R Wallace, Eric Legius, Kristine S Vogel, Nancy Ratner

Cotargeting MNK and MEK kinases induces the regression of NF1-mutant cancers

共同靶向 MNK 和 MEK 激酶可诱导 NF1 突变癌症消退

Rebecca Lock, Rachel Ingraham, Ophélia Maertens, Abigail L Miller, Nelly Weledji, Eric Legius, Bruce M Konicek, Sau-Chi B Yan, Jeremy R Graff, Karen Cichowski

Concurrent whole-genome haplotyping and copy-number profiling of single cells

同时进行单细胞全基因组单倍型分析和拷贝数分析

Masoud Zamani Esteki, Eftychia Dimitriadou, Ligia Mateiu, Cindy Melotte, Niels Van der Aa, Parveen Kumar, Rakhi Das, Koen Theunis, Jiqiu Cheng, Eric Legius, Yves Moreau, Sophie Debrock, Thomas D'Hooghe, Pieter Verdyck, Martine De Rycke, Karen Sermon, Joris R Vermeesch, Thierry Voet

Glomus tumors in neurofibromatosis type 1: genetic, functional, and clinical evidence of a novel association

型神经纤维瘤病中的血管球瘤:新关联的遗传、功能和临床证据

Hilde Brems, Caroline Park, Ophélia Maertens, Alexander Pemov, Ludwine Messiaen, Meena Upadhyaya, Kathleen Claes, Eline Beert, Kristel Peeters, Victor Mautner, Jennifer L Sloan, Lawrence Yao, Chyi-Chia Richard Lee, Raf Sciot, Luc De Smet, Eric Legius, Douglas R Stewart