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

Posttransplant B cell Development and Function in Patients with B cell Positive SCID Caused by Pathogenic Variants in IL2RG and JAK3

由IL2RG和JAK3致病变异引起的B细胞阳性重症联合免疫缺陷症(SCID)患者的移植后B细胞发育和功能

Jacobsen, Eva-Maria; Khazaleh, Abdallah; Felgentreff, Kerstin; Furlan, Ingrid; Wustrau, Katharina; Sirin, Mehtap; Cario, Holger; Mayer, Benjamin; Pannicke, Ulrich; Schwarz, Klaus; Debatin, Klaus-Michael; Friedrich, Wilhelm; Schulz, Ansgar S; Hoenig, Manfred

A noncoding mutation in the NOTCH1 gene initiates oncogenic NOTCH signaling via wild-type NICD stabilization in CLL

NOTCH1 基因中的非编码突变通过稳定野生型 NICD 启动 CLL 中的致癌 NOTCH 信号通路。

Guo, Min; Memis, Tugba; Ehrmann, Alena Sophie; Pittrof, Anselm; Baumann, Bernd; Ferrante, Francesca; Tausch, Eugen; Fischer, Kirsten; Döhner, Hartmut; Borggrefe, Tilman; Stilgenbauer, Stephan; Pannicke, Ulrich; Schwarz, Klaus; Mertens, Daniel; Oswald, Franz

RAG recombinase expression discriminates the development of natural killer cells

RAG重组酶的表达决定了自然杀伤细胞的发育。

Sprissler, Jasmin; Pannicke, Ulrich; Rump, Eva-Maria; Schrezenmeier, Hubert; Casadei, Nicolas; Pogoda, Michaela; Kuhlburger, Laurence; Oquendo, Morgana Barroso; Czemmel, Stefan; Debatin, Klaus-Michael; Erlacher, Miriam; Schwarz, Klaus; Felgentreff, Kerstin

AK2-Deficient Mice Recapitulate Impaired Lymphopoiesis of Reticular Dysgenesis Patients, but Also Lack Erythropoiesis

AK2缺陷小鼠重现了网状组织发育不全患者的淋巴细胞生成障碍,但也缺乏红细胞生成。

Waldmann, Rebekka; Werner, Franziska; Tasdogan, Alpaslan; Maier, Felix Immanuel; Kohlhofer, Ursula; Gonzalez-Menendez, Irene; de Fend, Leticia Quintanilla; Puarr, Amrit Kaur; Arkell, Ruth Maree; Enders, Anselm; Hoenig, Manfred; Schrezenmeier, Hubert; Fehling, Hans Joerg; Schwarz, Klaus; Pannicke, Ulrich

A partial human LCK defect causes a T cell immunodeficiency with intestinal inflammation

人类LCK部分缺陷会导致T细胞免疫缺陷并伴有肠道炎症。

Victor G Lui # ,Manfred Hoenig # ,Berenice Cabrera-Martinez ,Ryan M Baxter ,Josselyn E Garcia-Perez ,Olivia Bailey ,Atanu Acharya ,Karl Lundquist ,Jesusa Capera ,Paul Matusewicz ,Frederike A Hartl ,Marco D'Abramo ,Josephine Alba ,Eva-Maria Jacobsen ,Doris Niewolik ,Myriam Lorenz ,Ulrich Pannicke ,Ansgar S Schulz ,Klaus-Michael Debatin ,Wolfgang W Schamel ,Susana Minguet ,James C Gumbart ,Michael L Dustin ,John C Cambier ,Klaus Schwarz # ,Elena W Y Hsieh #

The glucocorticoid receptor as a master regulator of the Müller cell response to diabetic conditions in mice

糖皮质激素受体作为小鼠糖尿病状态下Müller细胞反应的主要调节因子

Anna M Pfaller ,Lew Kaplan ,Madalena Carido ,Felix Grassmann ,Nundehui Díaz-Lezama ,Farhad Ghaseminejad ,Kirsten A Wunderlich ,Sarah Glänzer ,Oliver Bludau ,Thomas Pannicke ,Bernhard H F Weber ,Susanne F Koch ,Boyan Bonev ,Stefanie M Hauck ,Antje Grosche

Non-Skewed X-inactivation Results in NF-κB Essential Modulator (NEMO) Δ-exon 5-autoinflammatory Syndrome (NEMO-NDAS) in a Female with Incontinentia Pigmenti

非倾斜 X 失活导致患有色素失调症的女性出现 NF-κB 必需调节剂 (NEMO) Δ-外显子 5-自身炎症综合征 (NEMO-NDAS)

Jessica Eigemann #, Ales Janda #, Catharina Schuetz, Min Ae Lee-Kirsch, Ansgar Schulz, Manfred Hoenig, Ingrid Furlan, Eva-Maria Jacobsen, Julia Zinngrebe, Sarah Peters, Cosima Drewes, Reiner Siebert, Eva-Maria Rump, Marita Führer, Myriam Lorenz, Ulrich Pannicke, Uwe Kölsch, Klaus-Michael Debatin, Ho

A multimorphic mutation in IRF4 causes human autosomal dominant combined immunodeficiency

IRF4基因的多态性突变导致人类常染色体显性联合免疫缺陷病

IRF4 International Consortium , Alicia Jia, Hye Sun Kuehn, Qing Min, Ulrich Pannicke, Nikolai Schleussner, Romane Thouenon, Zhijia Yu, María de Los Angeles Astbury, Catherine M Biggs, Miguel Galicchio, Jorge Alberto Garcia-Campos, Silvina Gismondi, Guadalupe Gonzalez Villarreal, Kyla J Hildebrand, Manfred Hönig, Jia Hou, Despina Moshous, Stefania Pittaluga, Xiaowen Qian, Jacob Rozmus, Ansgar S Schulz, Aidé Tamara Staines-Boone, Bijun Sun, Jinqiao Sun, Schauer Uwe, Edna Venegas-Montoya, Wenjie Wang, Xiaochuan Wang, Wenjing Ying, Xiaowen Zhai, Qinhua Zhou, Altuna Akalin, Isabelle André, Thomas F E Barth, Bernd Baumann, Anne Brüstle, Gaetan Burgio, Jacinta C Bustamante, Jean-Laurent Casanova, Marco G Casarotto, Marina Cavazzana, Loïc Chentout, Ian A Cockburn, Mariantonia Costanza, Chaoqun Cui, Oliver Daumke, Kate L Del Bel, Hermann Eibel, Xiaoqian Feng, Vedran Franke, J Christof M Gebhardt, Andrea Götz, Stephan Grunwald, Bénédicte Hoareau, Timothy R Hughes, Eva-Maria Jacobsen, Martin Janz, Arttu Jolma, Chantal Lagresle-Peyrou, Nannan Lai, Yaxuan Li, Susan Lin, Henry Y Lu, Saul O Lugo-Reyes, Xin Meng, Peter Möller, Nidia Moreno-Corona, Julie E Niemela, Gherman Novakovsky, Jareb J Perez-Caraballo, Capucine Picard, Lucie Poggi, Maria-Emilia Puig-Lombardi, Katrina L Randall, Anja Reisser, Yohann Schmitt, Sandali Seneviratne, Mehul Sharma, Jennifer Stoddard, Srinivasan Sundararaj, Harry Sutton, Linh Q Tran, Ying Wang, Wyeth W Wasserman, Zichao Wen, Wiebke Winkler, Ermeng Xiong, Ally W H Yang, Meiping Yu, Lumin Zhang, Hai Zhang, Qian Zhao, Xin Zhen, Anselm Enders, Sven Kracker, Ruben Martinez-Barricarte, Stephan Mathas, Sergio D Rosenzweig, Klaus Schwarz, Stuart E Turvey, Ji-Yang Wang

Transcriptional reprogramming by mutated IRF4 in lymphoma

淋巴瘤中突变的IRF4介导的转录重编程

Nikolai Schleussner #,Pierre Cauchy #,Vedran Franke,Maciej Giefing,Oriol Fornes,Naveen Vankadari,Salam A Assi,Mariantonia Costanza,Marc A Weniger,Altuna Akalin,Ioannis Anagnostopoulos,Thomas Bukur,Marco G Casarotto,Frederik Damm,Oliver Daumke,Benjamin Edginton-White,J Christof M Gebhardt,Michael Grau,Stephan Grunwald,Martin-Leo Hansmann,Sylvia Hartmann,Lionel Huber,Eva Kärgel,Simone Lusatis,Daniel Noerenberg,Nadine Obier,Ulrich Pannicke,Anja Fischer,Anja Reisser,Andreas Rosenwald,Klaus Schwarz,Srinivasan Sundararaj,Andre Weilemann,Wiebke Winkler,Wendan Xu,Georg Lenz,Klaus Rajewsky,Wyeth W Wasserman,Peter N Cockerill,Claus Scheidereit,Reiner Siebert,Ralf Küppers,Rudolf Grosschedl,Martin Janz,Constanze Bonifer,Stephan Mathas

Compound heterozygous variants in OTULIN are associated with fulminant atypical late-onset ORAS

OTULIN基因的复合杂合变异与暴发性非典型迟发性ORAS相关。

Julia Zinngrebe ,Barbara Moepps ,Thomas Monecke ,Peter Gierschik ,Ferdinand Schlichtig ,Thomas F E Barth ,Gudrun Strauß ,Elena Boldrin ,Carsten Posovszky ,Ansgar Schulz ,Ortraud Beringer ,Eva Rieser ,Eva-Maria Jacobsen ,Myriam Ricarda Lorenz ,Klaus Schwarz ,Ulrich Pannicke ,Henning Walczak ,Dierk Niessing ,Catharina Schuetz # ,Pamela Fischer-Posovszky # ,Klaus-Michael Debatin #