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

The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy.

复发性深内含子假外显子诱导变异 COL6A1 c.930+189C>T 导致 COL6 相关营养不良症的持续严重表型:朝着剪接调节疗法的临床试验准备迈进

Foley A Reghan, Bolduc Véronique, Guirguis Fady, Donkervoort Sandra, Hu Ying, Orbach Rotem, McCarty Riley M, Sarathy Apurva, Norato Gina, Cummings Beryl B, Lek Monkol, Sarkozy Anna, Butterfield Russell J, Kirschner Janbernd, Nascimento Andrés, Benito Daniel Natera-de, Quijano-Roy Susana, Stojkovic Tanya, Merlini Luciano, Comi Giacomo, Ryan Monique, McDonald Denise, Munot Pinki, Yoon Grace, Leung Edward, Finanger Erika, Leach Meganne E, Collins James, Tian Cuixia, Mohassel Payam, Neuhaus Sarah B, Saade Dimah, Cocanougher Benjamin T, Chu Mary-Lynn, Scavina Mena, Grosmann Carla, Richardson Randal, Kossak Brian D, Gospe Sidney M Jr, Bhise Vikram, Taurina Gita, Lace Baiba, Troncoso Monica, Shohat Mordechai, Shalata Adel, Chan Sophelia H S, Jokela Manu, Palmio Johanna, Haliloğlu Göknur, Jou Cristina, Gartioux Corine, Solomon-Degefa Herimela, Freiburg Carolin D, Schiavinato Alvise, Zhou Haiyan, Aguti Sara, Nevo Yoram, Nishino Ichizo, Jimenez-Mallebrera Cecilia, Lamandé Shireen R, Allamand Valérie, Gualandi Francesca, Ferlini Alessandra, MacArthur Daniel G, Wilton Steve D, Wagener Raimund, Bertini Enrico, Muntoni Francesco, Bönnemann Carsten G

The Fraser Complex Proteins (Frem1, Frem2, and Fras1) Can Form Anchoring Cords in the Absence of AMACO at the Dermal-Epidermal Junction of Mouse Skin

在小鼠皮肤真皮-表皮连接处,弗雷泽复合体蛋白(Frem1、Frem2 和 Fras1)在缺乏 AMACO 的情况下也能形成锚定索。

Esho, Temitope; Kobbe, Birgit; Tufa, Sara F; Keene, Douglas R; Paulsson, Mats; Wagener, Raimund

The UCMD-Causing COL6A1 (c.930 + 189C > T) Intron Mutation Leads to the Secretion and Aggregation of Single Mutated Collagen VI α1 Chains

导致 UCMD 的 COL6A1 (c.930 + 189C > T) 内含子突变导致单个突变的 VI 型胶原蛋白 α1 链的分泌和聚集

Freiburg, Carolin D; Solomon-Degefa, Herimela; Freiburg, Patrick; Mörgelin, Matthias; Bolduc, Véronique; Schmitz, Sebastian; Ala, Pierpaolo; Muntoni, Francesco; Behrmann, Elmar; Bönnemann, Carsten G; Schiavinato, Alvise; Paulsson, Mats; Wagener, Raimund

Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2

KDELR2 与 HSP47 的相互作用是 KDELR2 双等位基因变异导致成骨不全的关键决定因素

van Dijk, Fleur S; Semler, Oliver; Etich, Julia; Köhler, Anna; Jimenez-Estrada, Juan A; Bravenboer, Nathalie; Claeys, Lauria; Riesebos, Elise; Gegic, Sejla; Piersma, Sander R; Jimenez, Connie R; Waisfisz, Quinten; Flores, Carmen-Lisset; Nevado, Julian; Harsevoort, Arjan J; Janus, Guus J M; Franken, Anton A M; van der Sar, Astrid M; Meijers-Heijboer, Hanne; Heath, Karen E; Lapunzina, Pablo; Nikkels, Peter G J; Santen, Gijs W E; Nüchel, Julian; Plomann, Markus; Wagener, Raimund; Rehberg, Mirko; Hoyer-Kuhn, Heike; Eekhoff, Elisabeth M W; Pals, Gerard; Mörgelin, Matthias; Newstead, Simon; Wilson, Brian T; Ruiz-Perez, Victor L; Maugeri, Alessandra; Netzer, Christian; Zaucke, Frank; Micha, Dimitra

A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies

COL6A1假外显子插入的复发会导致肌营养不良,而剪接校正疗法可以有效治疗这种疾病。

Bolduc, Véronique; Foley, A Reghan; Solomon-Degefa, Herimela; Sarathy, Apurva; Donkervoort, Sandra; Hu, Ying; Chen, Grace S; Sizov, Katherine; Nalls, Matthew; Zhou, Haiyan; Aguti, Sara; Cummings, Beryl B; Lek, Monkol; Tukiainen, Taru; Marshall, Jamie L; Regev, Oded; Marek-Yagel, Dina; Sarkozy, Anna; Butterfield, Russell J; Jou, Cristina; Jimenez-Mallebrera, Cecilia; Li, Yan; Gartioux, Corine; Mamchaoui, Kamel; Allamand, Valérie; Gualandi, Francesca; Ferlini, Alessandra; Hanssen, Eric; Wilton, Steve D; Lamandé, Shireen R; MacArthur, Daniel G; Wagener, Raimund; Muntoni, Francesco; Bönnemann, Carsten G

Gene Expression Profiling of the Extracellular Matrix Signature in Macrophages of Different Activation Status: Relevance for Skin Wound Healing

不同激活状态巨噬细胞细胞外基质特征的基因表达谱分析:与皮肤伤口愈合的相关性

Etich, Julia; Koch, Manuel; Wagener, Raimund; Zaucke, Frank; Fabri, Mario; Brachvogel, Bent

Heterogeneity of Collagen VI Microfibrils: STRUCTURAL ANALYSIS OF NON-COLLAGENOUS REGIONS

VI型胶原微纤维的异质性:非胶原区域的结构分析

Maaß, Tobias; Bayley, Christopher P; Mörgelin, Matthias; Lettmann, Sandra; Bonaldo, Paolo; Paulsson, Mats; Baldock, Clair; Wagener, Raimund

Interleukin-4 Receptor α Signaling in Myeloid Cells Controls Collagen Fibril Assembly in Skin Repair

髓系细胞中的白细胞介素-4受体α信号传导调控皮肤修复中的胶原纤维组装

Knipper, Johanna A; Willenborg, Sebastian; Brinckmann, Jürgen; Bloch, Wilhelm; Maaß, Tobias; Wagener, Raimund; Krieg, Thomas; Sutherland, Tara; Munitz, Ariel; Rothenberg, Marc E; Niehoff, Anja; Richardson, Rebecca; Hammerschmidt, Matthias; Allen, Judith E; Eming, Sabine A

A structure of a collagen VI VWA domain displays N and C termini at opposite sides of the protein.

胶原蛋白 VI VWA 结构域的结构显示,蛋白质的 N 端和 C 端位于蛋白质的两侧

Becker Ann-Kathrin A, Mikolajek Halina, Paulsson Mats, Wagener Raimund, Werner Jörn M

Matrilin-1 is essential for zebrafish development by facilitating collagen II secretion

Matrilin-1 通过促进 II 型胶原蛋白的分泌,对斑马鱼的发育至关重要。

Neacsu, Cristian Dan; Ko, Ya-Ping; Tagariello, Andreas; Røkenes Karlsen, Kristina; Neiss, Wolfram Friedrich; Paulsson, Mats; Wagener, Raimund