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

A novel spliceosomopathy caused by de novo SF3B3 variants.

一种由新生SF3B3变异引起的新型剪接体病。

Musante Luciana, Janos Pavel, Pianigiani Giulia, Cappelli Sara, Longo Alessandra, Alves Carolina, Schwaibold Eva Mc, Wagner Matias, Costain Gregory, Fridriksdottir Run, Stefansson Kari, Sulem Patrick, Lichtenbelt Klaske D, van Binsbergen Ellen, van Jaarsveld Richard H, Brusco Alfredo, Pavinato Lisa, Biamino Elisa, Spano Alessandra, Hildebrandt Clara C, Chan Yee-Ming, Groopman Emily, Berkenstadt Michal, Koboldt Daniel, Williamson Rachel, Brunner Han G, Vissers Lisenka Elm, Torring Pernille M, Hao Qin, Gelb Bruce D, Goldmuntz Elizabeth, Reed Kristen, Bedoukian Emma C, Vecchio Davide, Salzano Emanuela, Piccione Maria, Zanus Caterina, Mio Catia, Eichler Evan E, Wang Tianyun, Patterson Wesley G, Butler Kameryn M, Piotrowski Mattie, Mercier Sandra, Cogné Benjamin, Wentzensen Ingrid M, Buratti Emanuele, Magistrato Alessandra, Faletra Flavio

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder

临床、体外和体内证据表明,WAPL 是一种新的黏连蛋白病基因,也是 10q22.3q23.2 基因组疾病的表型驱动因素。

Boone, Philip M; Erdin, Serkan; Mohamed, Abucar; Haghshenas, Sadegheh; Faour, Kamli N W; Kao, Emeline; Fu, Jack; Auwerx, Chiara; Harripaul, Ricardo; Jana, Bimal; Springer, Danielle; Hallstrom, Grey; de Esch, Celine E F; Denhoff, Erica; Holmes, Lauren; Mohajeri, Kiana; Lemanski, John; Kerkhof, Jennifer; McConkey, Haley; Rzasa, Jessica; McCune, Madison J; Levy, Michael A; Grafstein, Julia; Larson, Matthew; Wright, Zsabre; Beauchamp, Roberta L; Lucente, Diane; Jamra, Rami Abou; Agrawal, Neena; Agrawal, Pankaj; Andersen, Erica F; Argilli, Emanuela; Araiza, Renee; Ballal, Sonia; Baxter, Megan F; Bergant, Gaber; Bertsche, Astrid; Bhavsar, Riya; Bortola, Debora R; Bothe, Viktoria; Brasch-Andersen, Charlotte; Braun, Dominique; Bruel, Ange-Line; Buchanan, Catherine; Burt, Nicholas D; Carvalho, Laura M L; Chiriatti, Luigi; Cogne, Benjamin; Collins, Ryan; Crunk, Amy; Currall, Benjamin; Delahaye-Duriez, Andree; Delanne, Julian; Denommé-Pichon, Anne-Sophie; Devriendt, Koenraad; Domingo, Aloysius; Duncan, Laura; Faivre, Laurence; Famularo, Laura; Fulton, Anne; Genetti, Casie; Harel, Tamar; Havlovicova, Marketa; Higgs, Jenny; Houlier, Marine; Iascone, Maria; Immken, LaDonna; Isidor, Bertrand; Kaiser, Frank J; Karbone, Kaycee; Kenna, Margaret; Khan, Amjad; Kimmig, Lara Kristina; Kleefstra, Tjitske; Kraus, Eva-Maria; Krepischi, Ana C V; Krey, Ilona; Ladda, Roger; Lanoue, Louise; Le Caignec, Cedric; Lewis, Zoe K; Lima, Gloria; Lynch, Sally Ann; Macek, Milan Jr; Maier, Olivier; Maitz, Silvia; Male, Alison; Malikova, Marcela; McKay, Victoria; Moldovan, Oana; Monteil, Danielle; Oliveira, Mariana Moysés; Munasinghe, Jeeva; Nakamori, Sachiko; Neuser, Sonja; Nizon, Mathilde; Nuttle, Xander; O'Keefe, Kathryn; Orec, Laura; Parenti, Ilaria; Peterlin, Borut; Pfundt, Rolph; Pouncey, Jill; Radio, Francesca Clementina; Robert, Leema; Rodan, Lance; Rosenberg-Fogler, Hallel; Rosenfeld, Jill A; Safraou, Hana; Salani, Monica; Schliesske, Sophia; Seaby, Eleanor G; Sell, Susan; Eliot Shearer, A; Sherr, Elliott; Shillington, Amelle; Siebold, Dorothea; Sinnema, Margje; Smith, Laura; Stegmann, Alexander P A; Stevens, Cathy; Stevens, Servi; Surette, Eric; Tartaglia, Marco; Taylor, Jenny C; Thompson, Michelle L; Tørring, Pernille M; Mau Them, Frederic Tran; Tsoulaki, Olga; Umair, Muhammad; Vanhoutte, Els; Vincent, Marie; Vitobello, Antonio; von Wintzingerode, Lydia; Watt, Amy; Wayhelova, Marketa; Wentzensen, Ingrid M; Wilson, William; Wojcik, Monica H; Yuan, Bo; Zampino, Giuseppe; Srivastava, Siddharth; Westphal, Dominik S; Riedhammer, Korbinian M; Joyce, Eric; Yadav, Rachita; Gusella, James; Tai, Derek J C; Sadikovic, Bekim; Pfeifer, Karl E; Talkowski, Michael E

Deep genome sequencing reveals extensive genetic heterogeneity in early human placentas.

深度基因组测序揭示了早期人类胎盘中广泛的遗传异质性

Miceikaite Ieva, Fagerberg Christina, Brasch-Andersen Charlotte, Torring Pernille M, Schlott Kristiansen Britta, Hao Qin, Sperling Lene, Larsen Martin J

Neurofilament light chain for prognostication after cardiac arrest-first steps towards validation

神经丝轻链在心脏骤停后预后预测中的应用——验证的第一步

Meyer, Martin A S; Beske, Rasmus P; Mølstrøm, Simon; Grand, Johannes; Obling, Laust E R; Wiberg, Sebastian; Borregaard, Britt; Schneekloth, Simon; Kaad, Sif Grau; Christensen, Pernille M; Christoffersen, Christina; Frikke-Schmidt, Ruth; Schmidt, Henrik; Møller, Jacob E; Kjaergaard, Jesper; Hassager, Christian

Repression of developmental transcription factor networks triggers aging-associated gene expression in human glial progenitor cells

抑制发育转录因子网络会引发人类神经胶质祖细胞中与衰老相关的基因表达

John N Mariani, Benjamin Mansky, Pernille M Madsen, Dennis Salinas, Deniz Kesmen, Nguyen P T Huynh, Nicholas J Kuypers, Erin R Kesel, Janna Bates, Casey Payne, Devin Chandler-Militello, Abdellatif Benraiss, Steven A Goldman

Kidney derived apolipoprotein M and its role in acute kidney injury

肾源性载脂蛋白M及其在急性肾损伤中的作用

Line S Bisgaard, Pernille M Christensen, Jeongah Oh, Federico Torta, Ernst-Martin Füchtbauer, Lars Bo Nielsen, Christina Christoffersen

High risk of ischaemic stroke amongst patients with hereditary haemorrhagic telangiectasia

遗传性出血性毛细血管扩张症患者发生缺血性卒中的风险较高

Kofoed, Mikkel Seremet; Tørring, Pernille M; Christensen, Alex Alban; Lange, Bibi; Kjeldsen, Anette Drøhse; Nielsen, Troels Halfeld

The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant

TRIP12 变异个体的神经发育和面部表型

Aerden, Mio; Denommé-Pichon, Anne-Sophie; Bonneau, Dominique; Bruel, Ange-Line; Delanne, Julian; Gérard, Bénédicte; Mazel, Benoît; Philippe, Christophe; Pinson, Lucile; Prouteau, Clément; Putoux, Audrey; Tran Mau-Them, Frédéric; Viora-Dupont, Éléonore; Vitobello, Antonio; Ziegler, Alban; Piton, Amélie; Isidor, Bertrand; Francannet, Christine; Maillard, Pierre-Yves; Julia, Sophie; Philippe, Anais; Schaefer, Elise; Koene, Saskia; Ruivenkamp, Claudia; Hoffer, Mariette; Legius, Eric; Theunis, Miel; Keren, Boris; Buratti, Julien; Charles, Perrine; Courtin, Thomas; Misra-Isrie, Mala; van Haelst, Mieke; Waisfisz, Quinten; Wieczorek, Dagmar; Schmetz, Ariane; Herget, Theresia; Kortüm, Fanny; Lisfeld, Jasmin; Debray, François-Guillaume; Bramswig, Nuria C; Atallah, Isis; Fodstad, Heidi; Jouret, Guillaume; Almoguera, Berta; Tahsin-Swafiri, Saoud; Santos-Simarro, Fernando; Palomares-Bralo, Maria; López-González, Vanesa; Kibaek, Maria; Tørring, Pernille M; Renieri, Alessandra; Bruno, Lucia Pia; Õunap, Katrin; Wojcik, Monica; Hsieh, Tzung-Chien; Krawitz, Peter; Van Esch, Hilde

IL-4 and IL-13 both contribute to the homeostasis of human conjunctival goblet cells in vitro

IL-4 和 IL-13 均有助于体外人结膜杯状细胞的稳态维持。

Hansen, Pernille M; Tollenaere, Maxim A X; Hedengran, Anne; Heegaard, Steffen; Amoudruz, Petra; Røpke, Mads; Thyssen, Jacob P; Kolko, Miriam; Norsgaard, Hanne

A TCF7L2-responsive suppression of both homeostatic and compensatory remyelination in Huntington disease mice

TCF7L2 反应性抑制亨廷顿病小鼠的稳态和代偿性髓鞘再生

Abdellatif Benraiss, John N Mariani, Ashley Tate, Pernille M Madsen, Kathleen M Clark, Kevin A Welle, Renee Solly, Laetitia Capellano, Karen Bentley, Devin Chandler-Militello, Steven A Goldman