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

B3GALT6 mutations lead to compromised connective tissue biomechanics in Ehlers-Danlos syndrome.

B3GALT6 基因突变导致埃勒斯-当洛斯综合征患者的结缔组织生物力学受损

Diana Roméo Milan, Jolivet Benjamin, Vincourt Jean-Baptiste, Hergalant Sébastien, Francius Grégory, Karami Yasaman, Khakzad Hamed, Wild Rebekka, Bourgeais Marie, Robert Anne, Wurtz Alison, Barreto Guillermo, Ramalanjaona Nick, Helle Déborah, Onifarasoaniaina Rachel, Front Sophie, Lopin-Bon Chrystel, Syx Delfien, Malfait Fransiska, Fournel-Gigleux Sylvie, Gulberti Sandrine, Bui Catherine

Evaluating variants of uncertain significance in adult zebrafish via prime editing: a proof of concept with a COL1A2 variant

利用先导编辑技术评估成年斑马鱼中意义未明的变异:以 COL1A2 变异为例的概念验证

Vanhooydonck, Michiel; Debaenst, Sophie; Vanbelleghem, Eva; De Saffel, Hanna; Syx, Delfien; Sips, Patrick; Coucke, Paul J; Willaert, Andy; Callewaert, Bert

ADAMTS2: More than a procollagen N-proteinase

ADAMTS2:不仅仅是一种前胶原 N-蛋白酶

Vanlerberghe, Ruben; Colige, Alain; Malfait, Anne-Marie; Syx, Delfien; Malfait, Fransiska

Editorial: Ehlers-Danlos syndrome: from bedside to bench

社论:埃勒斯-当洛斯综合征:从临床到实验室

Kosho, Tomoki; Hayashi, Shujiro; Matsumoto, Ken-Ichi; Syx, Delfien; Kaur, Anupriya

Sensory profiling in classical Ehlers-Danlos syndrome: a case-control study revealing pain characteristics, somatosensory changes, and impaired pain modulation

经典型埃勒斯-当洛斯综合征的感觉特征分析:一项病例对照研究揭示了疼痛特征、躯体感觉改变和疼痛调节障碍。

Colman, Marlies; Syx, Delfien; de Wandele, Inge; Rombaut, Lies; Wilie, Deborah; Malfait, Zoë; Meeus, Mira; Malfait, Anne-Marie; Van Oosterwijck, Jessica; Malfait, Fransiska

Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14)

66例由CHST14致病变异引起的肌肉挛缩型埃勒斯-当洛斯综合征(mcEDS-CHST14)患者的临床和分子特征

Minatogawa, Mari; Unzaki, Ai; Morisaki, Hiroko; Syx, Delfien; Sonoda, Tohru; Janecke, Andreas R; Slavotinek, Anne; Voermans, Nicol C; Lacassie, Yves; Mendoza-Londono, Roberto; Wierenga, Klaas J; Jayakar, Parul; Gahl, William A; Tifft, Cynthia J; Figuera, Luis E; Hilhorst-Hofstee, Yvonne; Maugeri, Alessandra; Ishikawa, Ken; Kobayashi, Tomoko; Aoki, Yoko; Ohura, Toshihiro; Kawame, Hiroshi; Kono, Michihiro; Mochida, Kosuke; Tokorodani, Chiho; Kikkawa, Kiyoshi; Morisaki, Takayuki; Kobayashi, Tetsuyuki; Nakane, Takaya; Kubo, Akiharu; Ranells, Judith D; Migita, Ohsuke; Sobey, Glenda; Kaur, Anupriya; Ishikawa, Masumi; Yamaguchi, Tomomi; Matsumoto, Naomichi; Malfait, Fransiska; Miyake, Noriko; Kosho, Tomoki

Glycosaminoglycan linkage region of urinary bikunin as a potentially useful biomarker for β3GalT6-deficient spondylodysplastic Ehlers-Danlos syndrome

尿液中比库宁的糖胺聚糖连接区作为β3GalT6缺陷型脊椎发育不良型埃勒斯-当洛斯综合征的潜在有用生物标志物

Nikpour, Mahnaz; Noborn, Fredrik; Nilsson, Jonas; Van Damme, Tim; Kaye, Olivier; Syx, Delfien; Malfait, Fransiska; Larson, Göran

Animal Models of Ehlers-Danlos Syndromes: Phenotype, Pathogenesis, and Translational Potential

埃勒斯-当洛斯综合征的动物模型:表型、发病机制和转化潜力

Vroman, Robin; Malfait, Anne-Marie; Miller, Rachel E; Malfait, Fransiska; Syx, Delfien

b3galt6 Knock-Out Zebrafish Recapitulate β3GalT6-Deficiency Disorders in Human and Reveal a Trisaccharide Proteoglycan Linkage Region

敲除β3GalT6基因的斑马鱼重现了人类β3GalT6缺乏症的症状,并揭示了三糖蛋白聚糖连接区。

Delbaere, Sarah; De Clercq, Adelbert; Mizumoto, Shuji; Noborn, Fredrik; Bek, Jan Willem; Alluyn, Lien; Gistelinck, Charlotte; Syx, Delfien; Salmon, Phil L; Coucke, Paul J; Larson, Göran; Yamada, Shuhei; Willaert, Andy; Malfait, Fransiska