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

[Evaluation of Chlamydia muridarum and mixed bacteria-induced chronic salpingitis models and optimization of mixed bacterial dosage]

[对鼠衣原体和混合细菌引起的慢性输卵管炎模型进行评价,并优化混合细菌的剂量]

Penon-Portmann, Monica; Eldomery, Mohammad K; Potocki, Lorraine; Marafi, Dana; Posey, Jennifer E; Coban-Akdemir, Zeynep; Harel, Tamar; Grochowski, Christopher M; Loucks, Hailey; Devine, Walter Patrick; Van Ziffle, Jessica; Doherty, Dan; Lupski, James R; Shieh, Joseph T; 何, 柳青; 文, 铃淼; 张, 璐; 张, 丽; 徐, 皓菲; 钱, 远鑫; 肖, 思涵; 丁, 维俊; 王, 依澜; 黄, 叶芳

Uncovering Phenotypic Expansion in AXIN2-Related Disorders through Precision Animal Modeling

通过精准动物模型揭示AXIN2相关疾病的表型扩展

Aceves-Ewing, Nathalie M; Lanza, Denise G; Marcogliese, Paul C; Lu, Di; Hsu, Chih-Wei; Gonzalez, Matthew; Christiansen, Audrey E; Rasmussen, Tara L; Ho, Alex J; Gaspero, Angelina; Seavitt, John; Dickinson, Mary E; Yuan, Bo; Shayota, Brian J; Pachter, Stephanie; Hu, Xiaolin; Day-Salvatore, Debra Lynn; Mackay, Laura; Kanca, Oguz; Wangler, Michael F; Potocki, Lorraine; Rosenfeld, Jill A; Lewis, Richard Alan; Chao, Hsiao-Tuan; Lee, Brendan; Lee, Sukyeong; Yamamoto, Shinya; Bellen, Hugo J; Burrage, Lindsay C; Heaney, Jason D

Paternal UPD (15) With Disease-Causing Mutation and Small Supernumerary Ring Chromosome 15: A Case Report

父系单亲二体(15)伴致病突变和小型超数环状15号染色体:病例报告

Lee Curtis, David; Bekheirnia, Nasim; Potocki, Lorraine; Matyakhina, Ludmila; Bekheirnia, Mir Reza

Germline mutations in a G protein identify signaling cross-talk in T cells

G蛋白的种系突变可揭示T细胞中的信号传导串扰

Ham, Hyoungjun; Jing, Huie; Lamborn, Ian T; Kober, Megan M; Koval, Alexey; Berchiche, Yamina A; Anderson, D Eric; Druey, Kirk M; Mandl, Judith N; Isidor, Bertrand; Ferreira, Carlos R; Freeman, Alexandra F; Ganesan, Sundar; Karsak, Meliha; Mustillo, Peter J; Teo, Juliana; Zolkipli-Cunningham, Zarazuela; Chatron, Nicolas; Lecoquierre, François; Oler, Andrew J; Schmid, Jana Pachlopnik; Kuhns, Douglas B; Xu, Xuehua; Hauck, Fabian; Al-Herz, Waleed; Wagner, Matias; Terhal, Paulien A; Muurinen, Mari; Barlogis, Vincent; Cruz, Phillip; Danielson, Jeffrey; Stewart, Helen; Loid, Petra; Rading, Sebastian; Keren, Boris; Pfundt, Rolph; Zarember, Kol A; Vill, Katharina; Potocki, Lorraine; Olivier, Kenneth N; Lesca, Gaetan; Faivre, Laurence; Wong, Melanie; Puel, Anne; Chou, Janet; Tusseau, Maud; Moutsopoulos, Niki M; Matthews, Helen F; Simons, Cas; Taft, Ryan J; Soldatos, Ariane; Masle-Farquhar, Etienne; Pittaluga, Stefania; Brink, Robert; Fink, Danielle L; Kong, Heidi H; Kabat, Juraj; Kim, Woo Sung; Bierhals, Tatjana; Meguro, Kazuyuki; Hsu, Amy P; Gu, Jingwen; Stoddard, Jennifer; Banos-Pinero, Benito; Slack, Maria; Trivellin, Giampaolo; Mazel, Benoît; Soomann, Maarja; Li, Samuel; Watts, Val J; Stratakis, Constantine A; Rodriguez-Quevedo, Maria F; Bruel, Ange-Line; Lipsanen-Nyman, Marita; Saultier, Paul; Jain, Rashmi; Lehalle, Daphne; Torres, Daniel; Sullivan, Kathleen E; Barbarot, Sébastien; Neu, Axel; Duffourd, Yannis; Similuk, Morgan; McWalter, Kirsty; Blanc, Pierre; Bézieau, Stéphane; Jin, Tian; Geha, Raif S; Casanova, Jean-Laurent; Makitie, Outi M; Kubisch, Christian; Edery, Patrick; Christodoulou, John; Germain, Ronald N; Goodnow, Christopher C; Sakmar, Thomas P; Billadeau, Daniel D; Küry, Sébastien; Katanaev, Vladimir L; Zhang, Yu; Lenardo, Michael J; Su, Helen C

Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles

AFF3 不同变异体特异性的病理生理机制对转录组谱的影响各不相同。

Bassani, Sissy; Chrast, Jacqueline; Ambrosini, Giovanna; Voisin, Norine; Schütz, Frédéric; Brusco, Alfredo; Sirchia, Fabio; Turban, Lydia; Schubert, Susanna; Jamra, Rami Abou; Schlump, Jan-Ulrich; DeMille, Desiree; Bayrak-Toydemir, Pinar; Nelson, Gary Rex; Wong, Kristen Nicole; Duncan, Laura; Mosera, Mackenzie; Gilissen, Christian; Vissers, Lisenka E L M; Pfundt, Rolph; Kersseboom, Rogier; Yttervik, Hilde; Hansen, Geir Åsmund Myge; Falkenberg Smeland, Marie; Butler, Kameryn M; Lyons, Michael J; Carvalho, Claudia M B; Zhang, Chaofan; Lupski, James R; Potocki, Lorraine; Flores-Gallegos, Leticia; Morales-Toquero, Rodrigo; Petit, Florence; Yalcin, Binnaz; Tuttle, Annabelle; Elloumi, Houda Zghal; Mccormick, Lane; Kukolich, Mary; Klaas, Oliver; Horvath, Judit; Scala, Marcello; Iacomino, Michele; Operto, Francesca; Zara, Federico; Writzl, Karin; Maver, Ales; Haanpää, Maria K; Pohjola, Pia; Arikka, Harri; Iseli, Christian; Guex, Nicolas; Reymond, Alexandre

Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability

Robinow综合征的新型致病变异及定量表型分析:WNT信号通路扰动与表型变异

Zhang, Chaofan; Jolly, Angad; Shayota, Brian J; Mazzeu, Juliana F; Du, Haowei; Dawood, Moez; Soper, Patricia Celestino; Ramalho de Lima, Ariadne; Ferreira, Bárbara Merfort; Coban-Akdemir, Zeynep; White, Janson; Shears, Deborah; Thomson, Fraser Robert; Douglas, Sarah Louise; Wainwright, Andrew; Bailey, Kathryn; Wordsworth, Paul; Oldridge, Mike; Lester, Tracy; Calder, Alistair D; Dumic, Katja; Banka, Siddharth; Donnai, Dian; Jhangiani, Shalini N; Potocki, Lorraine; Chung, Wendy K; Mora, Sara; Northrup, Hope; Ashfaq, Myla; Rosenfeld, Jill A; Mason, Kati; Pollack, Lynda C; McConkie-Rosell, Allyn; Kelly, Wei; McDonald, Marie; Hauser, Natalie S; Leahy, Peter; Powell, Cynthia M; Boy, Raquel; Honjo, Rachel Sayuri; Kok, Fernando; Martelli, Lucia R; Filho, Vicente Odone; Genomics England Research Consortium; Muzny, Donna M; Gibbs, Richard A; Posey, Jennifer E; Liu, Pengfei; Lupski, James R; Sutton, V Reid; Carvalho, Claudia M B

A novel, de novo intronic variant in POGZ causes White-Sutton syndrome

POGZ基因中一种新的、从头发生的内含子变异导致了怀特-萨顿综合征。

Merriweather, Ashanta; Murdock, David R; Rosenfeld, Jill A; Dai, Hongzheng; Ketkar, Shamika; Emrick, Lisa; Nicholas, Sarah; Lewis, Richard A; Bacino, Carlos A; Scott, Daryl A; Lee, Brendan; Sutton, Vernon Reid; Potocki, Lorraine; Burrage, Lindsay C

Evidence that FGFRL1 contributes to congenital diaphragmatic hernia development in humans

证据表明,FGFRL1参与了人类先天性膈疝的发生发展。

Gofin, Yoel; Mackay, Laura Palmer; Machol, Keren; Keswani, Sundeep; Potocki, Lorraine; Di Gregorio, Eleonora; Naretto, Valeria Giorgia; Brusco, Alfredo; Hernandez-Garcia, Andres; Scott, Daryl A

GARS-related disease in infantile spinal muscular atrophy: Implications for diagnosis and treatment

婴儿脊髓性肌萎缩症中的GARS相关疾病:对诊断和治疗的启示

Markovitz, Rebecca; Ghosh, Rajarshi; Kuo, Molly E; Hong, William; Lim, Jaehyung; Bernes, Saunder; Manberg, Stephanie; Crosby, Kathleen; Tanpaiboon, Pranoot; Bharucha-Goebel, Diana; Bonnemann, Carsten; Mohila, Carrie A; Mizerik, Elizabeth; Woodbury, Suzanne; Bi, Weimin; Lotze, Timothy; Antonellis, Anthony; Xiao, Rui; Potocki, Lorraine