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

Loss of function of the zinc finger homeobox 4 gene, ZFHX4, underlies a neurodevelopmental disorder.

锌指同源框 4 基因 (ZFHX4) 功能丧失是神经发育障碍的根本原因

Pérez Baca María Del Rocío, Palomares-Bralo María, Vanhooydonck Michiel, Hamerlinck Lisa, D'haene Eva, Leimbacher Sebastian, Jacobs Eva Z, De Cock Laurenz, D'haenens Erika, Dheedene Annelies, Malfait Zoë, Vantomme Lies, Silva Ananilia, Rooney Kathleen, Zhao Xiaonan, Saeidian Amir Hossein, Owen Nichole Marie, Santos-Simarro Fernando, Lleuger-Pujol Roser, García-Miñaúr Sixto, Losantos-García Itsaso, Menten Björn, Gestri Gaia, Ragge Nicola, Sadikovic Bekim, Bogaert Elke, Vleminckx Kris, Naert Thomas, Syx Delfien, Callewaert Bert, Vergult Sarah

Cracking rare disorders: a new minimally invasive RNA-seq protocol

破解罕见疾病:一种新的微创RNA测序方案

Laurenz De Cock # ,Erika D'haenens # ,Lies Vantomme ,Lynn Backers ,Aude Beyens ,Kathleen Bm Claes ,Griet De Clercq ,Robin de Putter ,Candy Kumps ,Nika Schuermans ,Jo Sourbron ,Hannes Syryn ,Simon Tavernier ,Eva Vanbelleghem ,Olivier Vanakker ,Bart Vandekerckhove ,Tim Van Damme ,Bert Callewaert ,Annelies Dheedene ,Sarah Vergult ,Björn Menten

Loss of endothelial ZEB2 in mice attenuates steatosis early during metabolic dysfunction-associated steatotic liver disease

小鼠内皮细胞ZEB2的缺失可减轻代谢功能障碍相关脂肪肝疾病早期阶段的脂肪变性。

Dheedene, Wouter; Verhulst, Stefaan; Demuynck, Louise; Callewaert, Bram; de Haan, Willeke; Vinckier, Stefan; Van Wauwe, Jore; Vandervoort, Petra; Lox, Marleen; Stroobants, Mathias; Lavend'homme, Renaud; van IJcken, Wilfred F J; Jones, Elizabeth A V; Zwijsen, An; Jacquemin, Marc; van Grunsven, Leo A; Martinod, Kimberly; Huylebroeck, Danny; Mulugeta, Eskeatnaf; Luttun, Aernout

Neonatal Cholestasis Progressing to a Multisystem Syndrome With Liver Cirrhosis in Two Siblings With FARSA Deficiency: An Evolving Hepatological Phenotype

两名患有FARSA缺陷的兄弟姐妹的新生儿胆汁淤积症进展为伴有肝硬化的多系统综合征:一种不断演变的肝脏表型

Aelvoet, Y; Verloo, P; Vanlander, A; Vande Velde, S; Van Biervliet, S; De Bruyne, P; Hoste, L; Dheedene, A; Pottie, L; Hoorens, A; Mendes, M; De Bruyne, R

Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability

ZFHX3基因编码神经元发育的关键因子,其单倍体不足会导致综合征型智力障碍。

María Del Rocío Pérez Baca ,Eva Z Jacobs ,Lies Vantomme ,Pontus Leblanc ,Elke Bogaert ,Annelies Dheedene ,Laurenz De Cock ,Sadegheh Haghshenas ,Aidin Foroutan ,Michael A Levy ,Jennifer Kerkhof ,Haley McConkey ,Chun-An Chen ,Nurit Assia Batzir ,Xia Wang ,María Palomares ,Marieke Carels ,Bekim Sadikovic ,Björn Menten ,Bo Yuan ,Sarah Vergult ,Bert Callewaert

Full characterization of unresolved structural variation through long-read sequencing and optical genome mapping

通过长读长测序和光学基因组图谱对未解析的结构变异进行全面表征

De Clercq, Griet; Vantomme, Lies; Dewaele, Barbara; Callewaert, Bert; Vanakker, Olivier; Janssens, Sandra; Loeys, Bart; Strazisar, Mojca; De Coster, Wouter; Vermeesch, Joris Robert; Dheedene, Annelies; Menten, Björn

PRDM16 determines specification of ventricular cardiomyocytes by suppressing alternative cell fates

PRDM16 通过抑制替代细胞命运来决定心室心肌细胞的特化

Jore Van Wauwe, Alexia Mahy, Sander Craps, Samaneh Ekhteraei-Tousi, Pieter Vrancaert, Hannelore Kemps, Wouter Dheedene, Rosa Doñate Puertas, Sander Trenson, H Llewelyn Roderick, Manu Beerens, Aernout Luttun

Loss-of-function of the Zinc Finger Homeobox 4 (ZFHX4) gene underlies a neurodevelopmental disorder

锌指同源框 4 (ZFHX4) 基因的功能丧失是导致神经发育障碍的原因

Pérez Baca María Del Rocío, María Palomares Bralo, Michiel Vanhooydonck, Lisa Hamerlinck, Eva D'haene, Sebastian Leimbacher, Eva Z Jacobs, Laurenz De Cock, Erika D'haenens, Annelies Dheedene, Zoë Malfait, Lies Vantomme, Ananilia Silva, Kathleen Rooney, Fernando Santos-Simarro, Roser Lleuger-Pujol, S

Aligning genotyping and copy number data in single trophectoderm biopsies for aneuploidy prediction: uncovering incomplete concordance

将单个滋养层活检样本中的基因分型和拷贝数数据进行比对以预测非整倍体:揭示不完全一致性

De Witte, Lisa; Baetens, Machteld; Tilleman, Kelly; Vanden Meerschaut, Frauke; Janssens, Sandra; Van Tongerloo, Ariane; Szymczak, Virginie; Stoop, Dominic; Dheedene, Annelies; Symoens, Sofie; Menten, Björn

Endothelial Zeb2 preserves the hepatic angioarchitecture and protects against liver fibrosis

内皮细胞Zeb2能够维持肝脏血管结构并防止肝纤维化

de Haan, Willeke; Dheedene, Wouter; Apelt, Katerina; Décombas-Deschamps, Sofiane; Vinckier, Stefan; Verhulst, Stefaan; Conidi, Andrea; Deffieux, Thomas; Staring, Michael W; Vandervoort, Petra; Caluwé, Ellen; Lox, Marleen; Mannaerts, Inge; Takagi, Tsuyoshi; Jaekers, Joris; Berx, Geert; Haigh, Jody; Topal, Baki; Zwijsen, An; Higashi, Yujiro; van Grunsven, Leo A; van IJcken, Wilfred F J; Mulugeta, Eskeatnaf; Tanter, Mickael; Lebrin, Franck P G; Huylebroeck, Danny; Luttun, Aernout