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

Lentivirus-mediated gene therapy corrects ribosomal biogenesis and shows promise for Diamond Blackfan anemia

慢病毒介导的基因疗法可纠正核糖体生物合成,并有望治疗 Diamond Blackfan 贫血症

Yari Giménez, Manuel Palacios, Rebeca Sánchez-Domínguez, Christiane Zorbas, Jorge Peral, Alexander Puzik, Laura Ugalde, Omaira Alberquilla, Mariela Villanueva, Paula Río, Eva Gálvez, Lydie Da Costa, Marion Strullu, Albert Catala, Anna Ruiz-Llobet, Jose Carlos Segovia, Julián Sevilla, Brigitte Strahm

Clinical evolution, genetic landscape and trajectories of clonal hematopoiesis in SAMD9/SAMD9L syndromes

SAMD9/SAMD9L综合征的临床演变、遗传图谱和克隆性造血轨迹

Sushree S Sahoo ,Victor B Pastor ,Charnise Goodings ,Rebecca K Voss ,Emilia J Kozyra ,Amina Szvetnik ,Peter Noellke ,Michael Dworzak ,Jan Starý ,Franco Locatelli ,Riccardo Masetti ,Markus Schmugge ,Barbara De Moerloose ,Albert Catala ,Krisztián Kállay ,Dominik Turkiewicz ,Henrik Hasle ,Jochen Buechner ,Kirsi Jahnukainen ,Marek Ussowicz ,Sophia Polychronopoulou ,Owen P Smith ,Oksana Fabri ,Shlomit Barzilai ,Valerie de Haas ,Irith Baumann ,Stephan Schwarz-Furlan ,Martin G Sauer ,Birgit Burkhardt ,Peter Lang ,Peter Bader ,Rita Beier ,Ingo Müller ,Michael H Albert ,Roland Meisel ,Ansgar Schulz ,Gunnar Cario ,Pritam K Panda ,Julius Wehrle ,Shinsuke Hirabayashi ,Marta Derecka ,Robert Durruthy-Durruthy ,Gudrun Göhring ,Ayami Yoshimi-Noellke ,Manching Ku ,Dirk Lebrecht ,Miriam Erlacher ,Christian Flotho ,Brigitte Strahm ,Charlotte M Niemeyer ,Marcin W Wlodarski

Curative Treatment of POMP-Related Autoinflammation and Immune Dysregulation (PRAID) by Hematopoietic Stem Cell Transplantation

通过造血干细胞移植治愈 POMP 相关自身炎症和免疫失调 (PRAID)

Andrea Meinhardt, Paula C Ramos, R Jürgen Dohmen, Nadja Lucas, Min Ae Lee-Kirsch, Benjamin Becker, Jan de Laffolie, Tomás Cunha, Tim Niehues, Ulrich Salzer, Ayami Yoshimi, Miriam Erlacher, Anke M J Peters, Stephan Ehl, Brigitte Strahm, Carsten Speckmann

Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humans

体细胞突变和进行性单体性改变人类 SAMD9 相关表型

Federica Buonocore, Peter Kühnen, Jenifer P Suntharalingham, Ignacio Del Valle, Martin Digweed, Harald Stachelscheid, Noushafarin Khajavi, Mohammed Didi, Angela F Brady, Oliver Blankenstein, Annie M Procter, Paul Dimitri, Jerry K H Wales, Paolo Ghirri, Dieter Knöbl, Brigitte Strahm, Miriam Erlacher,

Transplantation from a symptomatic carrier sister restores host defenses but does not prevent colitis in NEMO deficiency

来自有症状的携带者姐妹的移植可恢复宿主的防御能力,但无法预防 NEMO 缺乏症引起的结肠炎

Christian Klemann, Ulrich Pannicke, Deborah J Morris-Rosendahl, Katerina Vlantis, Marta Rizzi, Holm Uhlig, Thomas Vraetz, Carsten Speckmann, Brigitte Strahm, Manolis Pasparakis, Klaus Schwarz, Stephan Ehl, Jan C Rohr

Omenn syndrome associated with a functional reversion due to a somatic second-site mutation in CARD11 deficiency

Omenn 综合征与因 CARD11 缺陷的体细胞第二位点突变导致的功能逆转有关

Sebastian Fuchs, Anne Rensing-Ehl, Ulrich Pannicke, Myriam R Lorenz, Paul Fisch, Yogesh Jeelall, Jan Rohr, Carsten Speckmann, Thomas Vraetz, Susan Farmand, Annette Schmitt-Graeff, Marcus Krüger, Brigitte Strahm, Philipp Henneke, Anselm Enders, Keisuke Horikawa, Christopher Goodnow, Klaus Schwarz, St

Next-generation-sequencing-spectratyping reveals public T-cell receptor repertoires in pediatric very severe aplastic anemia and identifies a β chain CDR3 sequence associated with hepatitis-induced pathogenesis

下一代测序谱系分析揭示了儿童极重度再生障碍性贫血中的公共 T 细胞受体库,并确定了与肝炎引起的发病机制相关的 β 链 CDR3 序列

Pina F I Krell, Susanne Reuther, Ute Fischer, Thomas Keller, Stephan Weber, Michael Gombert, Friedhelm R Schuster, Corinna Asang, Polina Stepensky, Brigitte Strahm, Roland Meisel, Jens Stoye, Arndt Borkhardt