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

Distinguishing benign from pathogenic duplications involving GPR101 and VGLL1-adjacent enhancers in the clinical setting with the bioinformatic tool POSTRE

利用生物信息学工具 POSTRE 在临床环境中区分涉及 GPR101 和 VGLL1 邻近增强子的良性和致病性重复

Trivellin, Giampaolo; Sánchez-Gaya, Víctor; Grasso, Alexia; Pasińska, Magdalena; Stratakis, Constantine A; Milnes, Di; Kirk, Edwin P; Beckers, Albert; Lania, Andrea G; Pétrossians, Patrick; Rada-Iglesias, Alvaro; Franke, Martin; Daly, Adrian F

Familial medullary thyroid carcinoma secondary to an SLC30A9 intragenic deletion and translation reinitiation

家族性甲状腺髓样癌继发于SLC30A9基因内缺失和翻译重新起始

Iacovazzo, Donato; Begalli, Federica; Suleyman, Oniz; Doleschall, Márton; Alevizaki, Maria; Ashelford, Kevin E; Awad Mahmoud, Sherine; Barlier, Anne; Barry, Sayka; Brain, Caroline; Cabrera, Claudia P; Castinetti, Frédéric; Chiloiro, Sabrina; Colclough, Kevin; Csábi, Alexandra; Druce, Maralyn R; Dutta, Pinaki; Fatih, Jawid M; Foulkes, William D; Gandhi, Mira; Grochowski, Christopher M; Hall, Charlotte L; Jarząb, Barbara; Klein, Kathleen O; Krajewska, Jolanta; Kurzawinski, Tom R; Lamers, Sebastiaan; Lugli, Francesca; Magid, Kesson; Margraf, Rebecca; Martin, Carmen S; Mathiesen, Jes S; Mihai, Radu; Morrison, Patrick J; Mozere, Monika; Oczko-Wojciechowska, Małgorzata; Owens, Martina; Ozretić, Luka; Patócs, Attila; Piacentini, Serena; Punetha, Jaya; Romanet, Pauline; Savola, Suvi; Schoenfelder, Stefan; Scott-Coombes, David M; Stanescu, Horia; Tekman, Mehmet; Thomas, Laura E; Tóth, Miklós; Wingett, Steven W; Witcher, Michael; Carvalho, Claudia M B; Franke, Martin; Kleta, Robert; Lupski, James R; Sampson, Julian R; De Marinis, Laura; Korbonits, Márta

Enhancer adoption by an LTR retrotransposon generates viral-like particles, causing developmental limb phenotypes.

LTR逆转录转座子对增强子的利用会产生病毒样颗粒,导致肢体发育表型异常

Glaser Juliane, Cova Giulia, Fauler Beatrix, Prada-Medina Cesar A, Stanislas Virginie, Phan Mai H Q, Schöpflin Robert, Aktas Yasmin, Franke Martin, Andrey Guillaume, Bartzoka Natalia, Paliou Christina, Laupert Verena, Chan Wing-Lee, Wittler Lars, Mielke Thorsten, Mundlos Stefan

10: Investigating the mechanisms of neoadjuvant olaparib and cediranib in renal cancer: results of arms 1 to 3 of the WIndow of opportunity in REnal cancer (WIRE) clinical trial

10:探讨新辅助奥拉帕尼和西地尼布治疗肾癌的机制:肾癌机会窗口(WIRE)临床试验第1至3组的结果

Herrmann, Tim; Mallow, Johannes; Plaumann, Markus; Lehmann, Rüdiger; Baecke, Sebastian; Berger, Jakob; Rak, Marko; Franke, Martin; Heinrich, Philipp; Tiller, Daniel; Pirkl, Anna; Bernarding, Johannes; Bruns, Christian; Jones, James; Wray, Rebecca; Menih, Ines Horvat; Thomas, Martin; Said, Sulekha; Mossop, Helen; Aquino, Maria; Arimtage, James; Baker, Harriet; Batley, Carley; Blackmur, James; Burge, Sarah; Chhabra, Anita; Easita, Farhana; Eisen, Tim; Fife, Kate; Godoy, Angela; Goodwin, Richard; Ince, Will; John, Rose; Laird, Alexander; Lukashchuk, Natalia; Matakidou, Athena; Mitchell, Thomas; Priest, Andrew; Protheroe, Andrew; Ranjit, Sreenidhi; Riddick, Anthony; Sipple, Jamal; Strong, Amy; Su, Helen; Sullivan, Mark; Tarantino, Silvia; Tsang-Pells, Gemma; Ursprung, Stephan; Wallis, Lauren; Warren, Anne; Wason, James; Welsh, Sarah; Kim, Younghwa; Stone, John; Crispin-Ortuzar, Mireia; Gallagher, Ferdia

Distinguishing benign from pathogenic duplications involving GPR101 and VGLL1-adjacent enhancers in the clinical setting with the bioinformatic tool POSTRE

利用生物信息学工具 POSTRE 在临床环境中区分涉及 GPR101 和 VGLL1 邻近增强子的良性和致病性重复

Trivellin, Giampaolo; Sánchez-Gaya, Víctor; Grasso, Alexia; Pasińska, Magdalena; Stratakis, Constantine A; Milnes, Di; Kirk, Edwin P; Beckers, Albert; Lania, Andrea G; Pétrossians, Patrick; Rada-Iglesias, Alvaro; Franke, Martin; Daly, Adrian F

Chromatin conformation capture in the clinic: 4C-seq/HiC distinguishes pathogenic from neutral duplications at the GPR101 locus

染色质构象捕获技术在临床中的应用:4C-seq/HiC 可区分 GPR101 位点的致病性重复和中性重复

Daly, Adrian F; Dunnington, Leslie A; Rodriguez-Buritica, David F; Spiegel, Erica; Brancati, Francesco; Mantovani, Giovanna; Rawal, Vandana M; Faucz, Fabio Rueda; Hijazi, Hadia; Caberg, Jean-Hubert; Nardone, Anna Maria; Bengala, Mario; Fortugno, Paola; Del Sindaco, Giulia; Ragonese, Marta; Gould, Helen; Cannavò, Salvatore; Pétrossians, Patrick; Lania, Andrea; Lupski, James R; Beckers, Albert; Stratakis, Constantine A; Levy, Brynn; Trivellin, Giampaolo; Franke, Martin

Case report: Management of pediatric gigantism caused by the TADopathy, X-linked acrogigantism

病例报告:TAD病引起的儿童巨人症、X连锁肢端巨人症的治疗

Caruso, Manuela; Mazzatenta, Diego; Asioli, Sofia; Costanza, Giuseppe; Trivellin, Giampaolo; Franke, Martin; Abboud, Dayana; Hanson, Julien; Raverot, Véronique; Pétrossians, Patrick; Beckers, Albert; Cappa, Marco; Daly, Adrian F

Publisher Correction: Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3

出版商更正:Lbx1/Fgf8基因座基因表达的组合效应可解决裂手/裂足畸形3型

Cova, Giulia; Glaser, Juliane; Schöpflin, Robert; Prada-Medina, Cesar Augusto; Ali, Salaheddine; Franke, Martin; Falcone, Rita; Federer, Miriam; Ponzi, Emanuela; Ficarella, Romina; Novara, Francesca; Wittler, Lars; Timmermann, Bernd; Gentile, Mattia; Zuffardi, Orsetta; Spielmann, Malte; Mundlos, Stefan

Endosomal escape of delivered mRNA from endosomal recycling tubules visualized at the nanoscale

在纳米尺度上可视化了递送的 mRNA 从内体回收小管中逃逸的过程

Prasath Paramasivam #, Christian Franke #, Martin Stöter, Andreas Höijer, Stefano Bartesaghi, Alan Sabirsh, Lennart Lindfors, Marianna Yanez Arteta, Anders Dahlén, Annette Bak, Shalini Andersson, Yannis Kalaidzidis, Marc Bickle, Marino Zerial

Cannabis Use for Endometriosis: Clinical and Legal Challenges in Australia and New Zealand

大麻在治疗子宫内膜异位症中的应用:澳大利亚和新西兰面临的临床和法律挑战

Sinclair, Justin; Toufaili, Yasmine; Gock, Sarah; Pegorer, Amanda G; Wattle, Jordan; Franke, Martin; Alzwayid, Muayed A K M; Abbott, Jason; Pate, David W; Sarris, Jerome; Armour, Mike