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

CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays

人类和小鼠的 CDK10 突变导致严重的生长迟缓、脊柱畸形和发育迟缓

Christian Windpassinger, Juliette Piard, Carine Bonnard, Majid Alfadhel, Shuhui Lim, Xavier Bisteau, Stéphane Blouin, Nur'Ain B Ali, Alvin Yu Jin Ng, Hao Lu, Sumanty Tohari, S Zakiah A Talib, Noémi van Hul, Matias J Caldez, Lionel Van Maldergem, Gökhan Yigit, Hülya Kayserili, Sameh A Youssef, Vincen

Autosomal Recessive Keratoderma-Ichthyosis-Deafness (ARKID) Syndrome Is Caused by VPS33B Mutations Affecting Rab Protein Interaction and Collagen Modification

常染色体隐性角化病-鱼鳞病-耳聋 (ARKID) 综合征是由影响 Rab 蛋白相互作用和胶原蛋白修饰的 VPS33B 突变引起的

Robert Gruber, Clare Rogerson, Christian Windpassinger, Blerida Banushi, Anna Straatman-Iwanowska, Joanna Hanley, Federico Forneris, Robert Strohal, Peter Ulz, Debra Crumrine, Gopinathan K Menon, Stefan Blunder, Matthias Schmuth, Thomas Müller, Holly Smith, Kevin Mills, Peter Kroisel, Andreas R Jane

Combined Respiratory Chain Deficiency and UQCC2 Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III Deficiencies

新生儿脑肌病中的呼吸链缺陷和 UQCC2 突变:复合物 III 缺陷中的超复合物组装缺陷

René G Feichtinger, Michaela Brunner-Krainz, Bader Alhaddad, Saskia B Wortmann, Reka Kovacs-Nagy, Tatjana Stojakovic, Wolfgang Erwa, Bernhard Resch, Werner Windischhofer, Sarah Verheyen, Sabine Uhrig, Christian Windpassinger, Felix Locker, Christine Makowski, Tim M Strom, Thomas Meitinger, Holger Pr

Long-term remission after allogeneic hematopoietic stem cell transplantation in LPS-responsive beige-like anchor (LRBA) deficiency

LPS 反应性米色样锚 (LRBA) 缺陷患者接受同种异体造血干细胞移植后的长期缓解

Markus G Seidel, Tatjana Hirschmugl, Laura Gamez-Diaz, Wolfgang Schwinger, Nina Serwas, Andrea Deutschmann, Gregor Gorkiewicz, Werner Zenz, Christian Windpassinger, Bodo Grimbacher, Christian Urban, Kaan Boztug

Piezo1 forms mechanosensitive ion channels in the human MCF-7 breast cancer cell line

Piezo1 在人类 MCF-7 乳腺癌细胞系中形成机械敏感离子通道

Chouyang Li, Simin Rezania, Sarah Kammerer, Armin Sokolowski, Trevor Devaney, Astrid Gorischek, Stephan Jahn, Hubert Hackl, Klaus Groschner, Christian Windpassinger, Ernst Malle, Thomas Bauernhofer, Wolfgang Schreibmayer

Silencing of protein kinase D2 induces glioma cell senescence via p53-dependent and -independent pathways

蛋白激酶 D2 沉默通过 p53 依赖性和非依赖性途径诱导胶质瘤细胞衰老

Eva Bernhart, Sabine Damm, Petra Heffeter, Andrea Wintersperger, Martin Asslaber, Saša Frank, Astrid Hammer, Heimo Strohmaier, Trevor DeVaney, Manuel Mrfka, Hans Eder, Christian Windpassinger, Christopher R Ireson, Paul S Mischel, Walter Berger, Wolfgang Sattler

Characterization of rat serum amyloid A4 (SAA4): a novel member of the SAA superfamily

大鼠血清淀粉样蛋白 A4 (SAA4) 的表征:SAA 超家族的新成员

Christine Rossmann, Christian Windpassinger, Daniela Brunner, Alenka Kovacevic, Natascha Schweighofer, Roland Malli, Rufina Schuligoi, Andreas Prokesch, Barbara Kluve-Beckerman, Wolfgang F Graier, Dagmar Kratky, Wolfgang Sattler, Ernst Malle