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

Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum

PPP2R5C基因的致病性新生变异会导致Houge-Janssens综合征谱系内的神经发育障碍。

Verbinnen, Iris; Douzgou Houge, Sofia; Hsieh, Tzung-Chien; Lesmann, Hellen; Kirchhoff, Aron; Geneviève, David; Brimble, Elise; Lenaerts, Lisa; Haesen, Dorien; Levy, Rebecca J; Thevenon, Julien; Faivre, Laurence; Marco, Elysa; Chong, Jessica X; Bamshad, Mike; Patterson, Karynne; Mirzaa, Ghayda M; Foss, Kimberly; Dobyns, William; White, Susan M; Pais, Lynn; O'Heir, Emily; Itzikowitz, Raphaela; Donald, Kirsten A; Van der Merwe, Celia; Mussa, Alessandro; Cervini, Raffaela; Giorgio, Elisa; Roscioli, Tony; Dias, Kerith-Rae; Evans, Carey-Anne; Brown, Natasha J; Ruiz, Anna; Trujillo Quintero, Juan Pablo; Rabin, Rachel; Pappas, John; Yuan, Hai; Lachlan, Katherine; Thomas, Simon; Devlin, Anita; Wright, Michael; Martin, Richard; Karwowska, Joanna; Posmyk, Renata; Chatron, Nicolas; Stark, Zornitza; Heath, Oliver; Delatycki, Martin; Buchert, Rebecca; Korenke, Georg-Christoph; Ramsey, Keri; Narayanan, Vinodh; Grange, Dorothy K; Weisenberg, Judith L; Haack, Tobias B; Karch, Stephanie; Kipkemoi, Patricia; Mangi, Moses; Bindels de Heus, Karen G C B; de Wit, Marie-Claire Y; Barakat, Tahsin Stefan; Lim, Derek; Van Winckel, Géraldine; Spillmann, Rebecca C; Shashi, Vandana; Jacob, Maureen; Stehr, Antonia M; Krawitz, Peter; Douzgos Houge, Gunnar; Janssens, Veerle

Houge-Janssens syndrome

侯格-詹森综合征

Houge, Gunnar Douzgos; Houge, Sofia Douzgou; Hsieh, Tzung-Chien; Verbinnen, Iris; Janssens, Veerle

The phosphatase activity of the PPP2R5D-PP2A holoenzyme modulates liprin-α1 liquid-liquid phase separation.

PPP2R5D-PP2A 全酶的磷酸酶活性调节脂蛋白-α1 液-液相分离

Mayer Abigail, Derua Rita, Spahn Elijah, Verbinnen Iris, Zhang Yang, Guzman Michelle, Swingle Mark R, Wadzinski Brian E, Honkanen Richard, Janssens Veerle, Xia Houhui

The PPP2R1A cancer hotspot mutant p.R183W increases clofarabine resistance in uterine serous carcinoma cells by a gain-of-function mechanism

PPP2R1A 癌症热点突变体 p.R183W 通过功能获得机制增强子宫浆液性癌细胞对氯法拉滨的耐药性。

Remmerie, Michiel; Dok, Rüveyda; Wang, Zhigang; Omella, Judit Domènech; Alen, Sophie; Cokelaere, Célie; Lenaerts, Lisa; Dreesen, Erwin; Nuyts, Sandra; Derua, Rita; Janssens, Veerle

Editorial: Deciphering the etiology of rare genetic disorders associated with protein phosphatases

社论:解读与蛋白磷酸酶相关的罕见遗传疾病的病因

Janssens, Veerle; Wadzinski, Brian E; Li, Chenchen; Honkanen, Richard E

The role of serine/threonine phosphatases in human development: Evidence from congenital disorders

丝氨酸/苏氨酸磷酸酶在人类发育中的作用:来自先天性疾病的证据

Vaneynde, Pieter; Verbinnen, Iris; Janssens, Veerle

Increased LGR6 Expression Sustains Long-Term Wnt Activation and Acquisition of Senescence in Epithelial Progenitors in Chronic Lung Diseases

慢性肺病中LGR6表达增加维持上皮祖细胞的长期Wnt激活和衰老

Emanuela E Cortesi ,Bob Meeusen ,Arno Vanstapel ,Stijn E Verleden ,Bart M Vanaudenaerde ,Wim A Wuyts ,Wim Janssens ,Veerle Janssens ,Tania Roskams ,Juan-José Ventura

De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders

影响 PP2A 催化 Cα 亚基(PPP2CA)的新生突变会导致类似其他 PP2A 相关神经发育障碍的综合征性智力障碍。

Reynhout, Sara; Jansen, Sandra; Haesen, Dorien; van Belle, Siska; de Munnik, Sonja A; Bongers, Ernie M H F; Schieving, Jolanda H; Marcelis, Carlo; Amiel, Jeanne; Rio, Marlène; Mclaughlin, Heather; Ladda, Roger; Sell, Susan; Kriek, Marjolein; Peeters-Scholte, Cacha M P C D; Terhal, Paulien A; van Gassen, Koen L; Verbeek, Nienke; Henry, Sonja; Schwoerer, Jessica Scott; Malik, Saleem; Revencu, Nicole; Ferreira, Carlos R; Macnamara, Ellen; Braakman, Hilde M H; Brimble, Elise; Ruzhnikov, Maura R Z; Wagner, Matias; Harrer, Philip; Wieczorek, Dagmar; Kuechler, Alma; Tziperman, Barak; Barel, Ortal; de Vries, Bert B A; Gordon, Christopher T; Janssens, Veerle; Vissers, Lisenka E L M

Protein kinase D displays intrinsic Tyr autophosphorylation activity: insights into mechanism and regulation

蛋白激酶D具有内在的酪氨酸自磷酸化活性:机制和调控机制的深入研究

Cobbaut, Mathias; Derua, Rita; Parker, Peter J; Waelkens, Etienne; Janssens, Veerle; Van Lint, Johan

Differential regulation of PKD isoforms in oxidative stress conditions through phosphorylation of a conserved Tyr in the P+1 loop

在氧化应激条件下,PKD 同工型的差异性调控是通过 P+1 环中保守酪氨酸残基的磷酸化实现的。

Cobbaut, Mathias; Derua, Rita; Döppler, Heike; Lou, Hua Jane; Vandoninck, Sandy; Storz, Peter; Turk, Benjamin E; Seufferlein, Thomas; Waelkens, Etienne; Janssens, Veerle; Van Lint, Johan