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

Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies

研究蛋白酶体ATPase亚基基因PSMC5在神经发育性蛋白酶体病中的神经元作用

Küry, Sébastien; Stanton, Janelle E; van Woerden, Geeske M; Bosc-Rosati, Amélie; Hsieh, Tzung-Chien; Bray, Lise; Oloudé, Marielle; Rosenfelt, Cory; Scott-Boyer, Marie Pier; Most, Victoria; Wang, Tianyun; Papendorf, Jonas J; de Konink, Charlotte; Deb, Wallid; Vignard, Virginie; Studencka-Turski, Maja; Besnard, Thomas; Hajdukowicz, Anna M; Thiel, Franziska G; Wolfgramm, Sophie; Florenceau, Laëtitia; Cuinat, Silvestre; Marsac, Sylvain; Verrès, Yann; Dangoumau, Audrey; Poirier, Léa; Wentzensen, Ingrid M; Tuttle, Annabelle; Forster, Cara; Striesow, Johanna; Golnik, Richard; Ortiz, Damara; Jenkins, Laura; Rosenfeld, Jill A; Ziegler, Alban; Houdayer, Clara; Bonneau, Dominique; Torti, Erin; Begtrup, Amber; Monaghan, Kristin G; Mullegama, Sureni V; Volker-Touw, Catharina M L Nienke; van Gassen, Koen L I; Oegema, Renske; de Pagter, Mirjam S; Steindl, Katharina; Rauch, Anita; Ivanovski, Ivan; McDonald, Kimberly; Boothe, Emily; Dauber, Andrew; Baker, Janice; Fabie, Noelle Andrea V; Bernier, Raphael A; Turner, Tychele N; Srivastava, Siddharth; Dies, Kira A; Swanson, Lindsay C; Costin, Carrie; Abdulrazak, Alali; Jobling, Rebekah K; Pappas, John; Rabin, Rachel; Niyazov, Dmitriy; Chun-Hui Tsai, Anne; Kovak, Karen; Beck, David B; Malicdan, May Christine V; Adams, David R; Wolfe, Lynne; Ganetzky, Rebecca D; Muraresku, Colleen C; Babikyan, Davit; Sedláček, Zdeněk; Hančárová, Miroslava; Timberlake, Andrew T; Saif, Hind Al; Nestler, Berkley; King, Kayla; Hajianpour, M J; Costain, Gregory; Prendergast, D'Arcy; Li, Chumei; Geneviève, David; Vitobello, Antonio; Sorlin, Arthur; Philippe, Christophe; Harel, Tamar; Toker, Ori; Sabir, Ataf; Lim, Derek; Hamilton, Mark J; Bryson, Lisa J; Cleary, Elaine; Weber, Sacha; Hoffman, Trevor L; Cueto-González, Anna M; Tizzano, Eduardo F; Gómez-Andrés, David; Codina-Solà, Marta; Ververi, Athina; Pavlidou, Efterpi; Lambropoulos, Alexandros; Garganis, Kyriakos; Rio, Marlène; Levy, Jonathan; Langas, Sarah J; McRae, Anne M; Lessard, Mathieu K; D'Agostino, Maria Daniela; De Bie, Isabelle; Wegler, Meret; Abou Jamra, Rami; Kamphausen, Susanne B; Bothe, Viktoria; Potocki, Lorraine; Olinger, Eric; Sznajer, Yves; Wiame, Elsa; Thompson, Michelle L; Schroeder, Molly C; Gooch, Catherine; Smith, Raphael A; Pandya, Arti; Busch, Larissa M; Völker, Uwe; Hammer, Elke; Wende, Kristian; Cogné, Benjamin; Isidor, Bertrand; Meiler, Jens; Ripoll, Clémentine; Bigou, Stéphanie; Laumonnier, Frédéric; Hildebrand, Peter W; Eichler, Evan E; McWalter, Kirsty; Krawitz, Peter M; Roux-Dalvai, Florence; Elgersma, Ype; Marcoux, Julien; Bousquet, Marie-Pierre; Droit, Arnaud; Poschmann, Jeremie; Grabrucker, Andreas M; Bolduc, Francois V; Bézieau, Stéphane; Ebstein, Frédéric; Krüger, Elke

Ubiquitin-proteasome system dysregulation in FAM111B-related poikiloderma and phenotypic spectrum expansion: new case reports and long-term follow-up

FAM111B相关皮肤异色症及表型谱扩展中的泛素-蛋白酶体系统失调:新病例报告和长期随访

Virginie Vignard,Mike Maillasson,Anne Bigot,Sébastien Küry,Thomas Besnard,Martin Broly,Aurélie Guého,Emmanuelle Com,Erica Davis,Wallid Deb,Laëtitia Florenceau,Karen Sobriel,Grégoire Ménard,Betty Gardie,Alice Goldenberg,Joseph Porrmann,Randal Richardson,Léa Ruffier,Smail Hadj-Rabia,Stéphane Bézieau,Sébastien Barbarot,Frédéric Ebstein,Sandra Mercier

PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon response

PSMD11功能缺失变异与神经行为表型、肥胖和干扰素反应增强相关

Deb, Wallid; Rosenfelt, Cory; Vignard, Virginie; Papendorf, Jonas Johannes; Möller, Sophie; Wendlandt, Martin; Studencka-Turski, Maja; Cogné, Benjamin; Besnard, Thomas; Ruffier, Léa; Toutain, Bérénice; Poirier, Léa; Cuinat, Silvestre; Kritzer, Amy; Crunk, Amy; diMonda, Janette; Vengoechea, Jaime; Mercier, Sandra; Kleinendorst, Lotte; van Haelst, Mieke M; Zuurbier, Linda; Sulem, Telma; Katrínardóttir, Hildigunnur; Friðriksdóttir, Rún; Sulem, Patrick; Stefansson, Kari; Jonsdottir, Berglind; Zeidler, Shimriet; Sinnema, Margje; Stegmann, Alexander P A; Naveh, Natali; Skraban, Cara M; Gray, Christopher; Murrell, Jill R; Isikay, Sedat; Pehlivan, Davut; Calame, Daniel G; Posey, Jennifer E; Nizon, Mathilde; McWalter, Kirsty; Lupski, James R; Isidor, Bertrand; Bolduc, François V; Bézieau, Stéphane; Krüger, Elke; Küry, Sébastien; Ebstein, Frédéric

Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder

CUL3基因功能缺失变异导致综合征性神经发育障碍

Blackburn, Patrick R; Ebstein, Frédéric; Hsieh, Tzung-Chien; Motta, Marialetizia; Radio, Francesca Clementina; Herkert, Johanna C; Rinne, Tuula; Thiffault, Isabelle; Rapp, Michele; Alders, Mariel; Maas, Saskia; Gerard, Bénédicte; Smol, Thomas; Vincent-Delorme, Catherine; Cogné, Benjamin; Isidor, Bertrand; Vincent, Marie; Bachmann-Gagescu, Ruxandra; Rauch, Anita; Joset, Pascal; Ferrero, Giovanni Battista; Ciolfi, Andrea; Husson, Thomas; Guerrot, Anne-Marie; Bacino, Carlos; Macmurdo, Colleen; Thompson, Stephanie S; Rosenfeld, Jill A; Faivre, Laurence; Mau-Them, Frederic Tran; Deb, Wallid; Vignard, Virginie; Agrawal, Pankaj B; Madden, Jill A; Goldenberg, Alice; Lecoquierre, François; Zech, Michael; Prokisch, Holger; Necpál, Ján; Jech, Robert; Winkelmann, Juliane; Koprušáková, Monika Turčanová; Konstantopoulou, Vassiliki; Younce, John R; Shinawi, Marwan; Mighton, Chloe; Fung, Charlotte; Morel, Chantal F; Lerner-Ellis, Jordan; DiTroia, Stephanie; Barth, Magalie; Bonneau, Dominique; Krapels, Ingrid; Stegmann, Alexander P A; van der Schoot, Vyne; Brunet, Theresa; Bußmann, Cornelia; Mignot, Cyril; Zampino, Giuseppe; Wortmann, Saskia B; Mayr, Johannes A; Feichtinger, René G; Courtin, Thomas; Ravelli, Claudia; Keren, Boris; Ziegler, Alban; Hasadsri, Linda; Pichurin, Pavel N; Klee, Eric W; Grand, Katheryn; Sanchez-Lara, Pedro A; Krüger, Elke; Bézieau, Stéphane; Klinkhammer, Hannah; Krawitz, Peter Michael; Eichler, Evan E; Tartaglia, Marco; Küry, Sébastien; Wang, Tianyun

Biallelic USP14 variants cause a syndromic neurodevelopmental disorder

双等位基因 USP14 变异可导致综合征性神经发育障碍

Frédéric Ebstein, Xenia Latypova, Ka Ying Sharon Hung, Miguel A Prado, Byung-Hoon Lee, Sophie Möller, Martin Wendlandt, Barbara A Zieba, Laëtitia Florenceau, Virginie Vignard, Léa Poirier, Bérénice Toutain, Isabella Moroni, Charlotte Dubucs, Nicolas Chassaing, Judit Horvath, Holger Prokisch, Sébasti

Exploring the origins of neurodevelopmental proteasomopathies associated with cardiac malformations: are neural crest cells central to certain pathological mechanisms?

探索与心脏畸形相关的神经发育蛋白酶体病的起源:神经嵴细胞是否在某些病理机制中起着核心作用?

Vignard, Virginie; Baruteau, Alban-Elouen; Toutain, Bérénice; Mercier, Sandra; Isidor, Bertrand; Redon, Richard; Schott, Jean-Jacques; Küry, Sébastien; Bézieau, Stéphane; Monsoro-Burq, Anne H; Ebstein, Frédéric

Associations between dietary mycotoxins exposures and risk of hepatocellular carcinoma in a European cohort

欧洲人群膳食霉菌毒素暴露与肝细胞癌风险之间的关联

Huybrechts, Inge; Jacobs, Inarie; Biessy, Carine; Aglago, Elom K; Jenab, Mazda; Claeys, Liesel; Zavadil, Jiri; Casagrande, Corinne; Nicolas, Genevieve; Scelo, Ghislaine; Altieri, Andrea; Fervers, Beatrice; Oswald, Isabelle P; Vignard, Julien; Chimera, Bernadette; Magistris, Maria Santucci de; Masala, Giovanna; Palli, Domenico; Padroni, Lisa; Castilla, Jesús; Jiménez-Zabala, Ana; Frenoy, Pauline; Mancini, Francesca Romana; Ren, Xuan; Sonestedt, Emily; Vineis, Paolo; Heath, Alicia; Werner, Mårten; Molina-Montes, Esther; Dahm, Christina C; Langmann, Fie; Huerta, José María; Brustad, Magritt; Skeie, Guri; Schulze, Matthias B; Agudo, Antonio; Sieri, Sabina; Korenjak, Michael; Gunter, Marc J; De Saeger, Sarah; De Boevre, Marthe

Understanding neurodevelopmental proteasomopathies as new rare disease entities: A review of current concepts, molecular biomarkers, and perspectives

将神经发育性蛋白酶体病理解为新的罕见病实体:对当前概念、分子生物标志物和展望的综述

Cuinat, Silvestre; Bézieau, Stéphane; Deb, Wallid; Mercier, Sandra; Vignard, Virginie; Isidor, Bertrand; Küry, Sébastien; Ebstein, Frédéric

Dairy By-Products and Lactoferrin Exert Antioxidant and Antigenotoxic Activity on Intestinal and Hepatic Cells

乳制品副产品和乳铁蛋白对肠道和肝细胞发挥抗氧化和抗原毒性作用

Inés Abad, Julien Vignard, Catherine Bouchenot, Dimitra Graikini, Laura Grasa, María Dolores Pérez, Gladys Mirey, Lourdes Sánchez

Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly

TMEM147基因的双等位基因功能缺失变异会导致中度至重度智力障碍,伴有面部畸形和假性佩尔格-于埃综合征。

Thomas, Quentin; Motta, Marialetizia; Gautier, Thierry; Zaki, Maha S; Ciolfi, Andrea; Paccaud, Julien; Girodon, François; Boespflug-Tanguy, Odile; Besnard, Thomas; Kerkhof, Jennifer; McConkey, Haley; Masson, Aymeric; Denommé-Pichon, Anne-Sophie; Cogné, Benjamin; Trochu, Eva; Vignard, Virginie; El It, Fatima; Rodan, Lance H; Alkhateeb, Mohammad Ayman; Jamra, Rami Abou; Duplomb, Laurence; Tisserant, Emilie; Duffourd, Yannis; Bruel, Ange-Line; Jackson, Adam; Banka, Siddharth; McEntagart, Meriel; Saggar, Anand; Gleeson, Joseph G; Sievert, David; Bae, Hyunwoo; Lee, Beom Hee; Kwon, Kisang; Seo, Go Hun; Lee, Hane; Saeed, Anjum; Anjum, Nadeem; Cheema, Huma; Alawbathani, Salem; Khan, Imran; Pinto-Basto, Jorge; Teoh, Joyce; Wong, Jasmine; Sahari, Umar Bin Mohamad; Houlden, Henry; Zhelcheska, Kristina; Pannetier, Melanie; Awad, Mona A; Lesieur-Sebellin, Marion; Barcia, Giulia; Amiel, Jeanne; Delanne, Julian; Philippe, Christophe; Faivre, Laurence; Odent, Sylvie; Bertoli-Avella, Aida; Thauvin, Christel; Sadikovic, Bekim; Reversade, Bruno; Maroofian, Reza; Govin, Jérôme; Tartaglia, Marco; Vitobello, Antonio