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

CPX-351 in Down syndrome-associated myeloid leukemia: results and prognostic factors from the phase 3 ML-DS 2018 trial

CPX-351治疗唐氏综合征相关髓系白血病:3期ML-DS 2018试验的结果和预后因素

Laszig, Stephanie; Diederichs, Antonia; Salzmann-Manrique, Emilia; Schuschel, Konstantin; Gonçalves-Dias, José; Issa, Hasan; Miladinovic, Milica; Rettinger, Eva; Wehner, Sibylle; Kreyenberg, Hermann; Bremm, Melanie; Hünecke, Sabine; Kerp, Helena; Waack-Buchholz, Katharina; Thol, Felicitas; Goemans, Bianca F; De Moerloose, Barbara; Boztug, Heidrun; Scheidegger, Nastassja; Pawińska-Wąsikowska, Katarzyna; Reinhardt, Dirk; Klusmann, Jan-Henning

Transcriptional and epigenetic rewiring by the NUP98::KDM5A fusion oncoprotein directly activates CDK12.

NUP98::KDM5A 融合癌蛋白通过转录和表观遗传重编程直接激活 CDK12

Troester Selina, Eder Thomas, Wukowits Nadja, Piontek Martin, Fernández-Pernas Pablo, Schmoellerl Johannes, Haladik Ben, Manhart Gabriele, Allram Melanie, Maurer-Granofszky Margarita, Scheidegger Nastassja, Nebral Karin, Superti-Furga Giulio, Meisel Roland, Bornhauser Beat, Valent Peter, Dworzak Michael N, Zuber Johannes, Boztug Kaan, Grebien Florian

The NUDIX hydrolase NUDT5 influences purine nucleotide metabolism and thiopurine pharmacology

NUDIX水解酶NUDT5影响嘌呤核苷酸代谢和硫嘌呤药理学

Kager, Leo; Boztug, Kaan

Image-based drug screening combined with molecular profiling identifies signatures and drivers of therapy resistance in pediatric AML

基于图像的药物筛选结合分子谱分析,可识别儿童急性髓系白血病(AML)的治疗耐药特征和驱动因素。

Ben Haladik ,Margarita Maurer-Granofszky ,Peter Zoescher ,Raul Jimenez-Heredia ,Alexandra Frohne ,Anna Segarra-Roca ,Chloe Casey ,Felix Kartnig ,Sarah Giuliani ,Christina Rashkova ,Peter Repiscak ,Michael N Dworzak ,Giulio Superti-Furga ,Kaan Boztug

Inborn errors of immunity reveal molecular requirements for generation and maintenance of human CD4(+) IL-9-expressing cells

先天性免疫缺陷揭示了人类CD4(+)IL-9表达细胞生成和维持的分子需求

Rao, Geetha; Mack, Corinne D; Nguyen, Tina; Wong, Natalie; Payne, Kathryn; Worley, Lisa; Gray, Paul E; Wong, Melanie; Hsu, Peter; Stormon, Michael O; Preece, Kahn; Suan, Daniel; O'Sullivan, Michael; Blincoe, Annaliesse K; Sinclair, Jan; Okada, Satoshi; Hambleton, Sophie; Arkwright, Peter D; Boztug, Kaan; Stepensky, Polina; Cooper, Megan A; Bezrodnik, Liliana; Nadeau, Kari C; Abolhassani, Hassan; Abraham, Roshini S; Seppänen, Mikko R J; Béziat, Vivien; Bustamante, Jacinta; Forbes Satter, Lisa R; Leiding, Jennifer W; Meyts, Isabelle; Jouanguy, Emmanuelle; Boisson-Dupuis, Stéphanie; Uzel, Gulbu; Puel, Anne; Casanova, Jean-Laurent; Tangye, Stuart G; Ma, Cindy S

Long-term outcome of bone marrow transplantation in NIK deficiency: non-redundant role of non-canonical NF-κB signaling in thymic reconstitution and secondary lymphoid organ development

NIK缺陷患者骨髓移植的长期预后:非经典NF-κB信号通路在胸腺重建和次级淋巴器官发育中不可替代的作用

Köstel Bal, Sevgi; Haskoloğlu, Şule; Ransmayr, Bernhard; Sevinç, Selin; İslamoğlu, Candan; Baskın, Kübra; Deveci, Nazlı; Savaş, Berna; Fitoz, Suat; Küpesiz, Alphan; Kendirli, Tanıl; Boztug, Kaan; Doğu, Figen; İkincioğulları, Kamile Aydan

GIMAP5 deficiency reveals a mammalian ceramide-driven longevity assurance pathway

GIMAP5缺陷揭示了哺乳动物神经酰胺驱动的长寿保障通路

Ann Y Park #,Michael Leney-Greene #,Matthew Lynberg,Justin Q Gabrielski,Xijin Xu,Benjamin Schwarz,Lixin Zheng,Arasu Balasubramaniyam,Hyoungjun Ham,Brittany Chao,Yu Zhang,Helen F Matthews,Jing Cui,Yikun Yao,Satoshi Kubo,Jean Michel Chanchu,Aaron R Morawski,Sarah A Cook,Ping Jiang,Juan C Ravell,Yan H Cheng,Alex George,Aiman Faruqi,Alison M Pagalilauan,Jenna R E Bergerson,Sundar Ganesan,Samuel D Chauvin,Jahnavi Aluri,Joy Edwards-Hicks,Eric Bohrnsen,Caroline Tippett,Habib Omar,Leilei Xu,Geoffrey W Butcher,John Pascall,Elif Karakoc-Aydiner,Ayca Kiykim,Holden Maecker,İlhan Tezcan,Saliha Esenboga,Raul Jimenez Heredia,Deniz Akata,Saban Tekin,Altan Kara,Zarife Kuloglu,Emel Unal,Tanıl Kendirli,Figen Dogu,Esra Karabiber,T Prescott Atkinson,Claude Cochet,Odile Filhol,Catherine M Bosio,Mark M Davis,Richard P Lifton,Erika L Pearce,Oliver Daumke,Caner Aytekin,Gülseren Evirgen Şahin,Aysel Ünlüsoy Aksu,Gulbu Uzel,V Koneti Rao,Sinan Sari,Buket Dalgıç,Kaan Boztug,Deniz Cagdas,Sule Haskologlu,Aydan Ikinciogullari,David Schwefel,Silvia Vilarinho,Safa Baris,Ahmet Ozen,Helen C Su,Michael J Lenardo

LTβR deficiency causes lymph node aplasia and impaired B cell differentiation.

LTβR 缺乏会导致淋巴结发育不全和 B 细胞分化受损

Ransmayr Bernhard, Bal Sevgi Köstel, Thian Marini, Svaton Michael, van de Wetering Cheryl, Hafemeister Christoph, Segarra-Roca Anna, Block Jana, Frohne Alexandra, Krolo Ana, Altunbas Melek Yorgun, Bilgic-Eltan Sevgi, Kıykım Ayça, Aydiner Omer, Kesim Selin, Inanir Sabahat, Karakoc-Aydiner Elif, Ozen Ahmet, Aba Ümran, Çomak Aylin, Tuğcu Gökçen Dilşa, Pazdzior Robert, Huber Bettina, Farlik Matthias, Kubicek Stefan, von Bernuth Horst, Simonitsch-Klupp Ingrid, Rizzi Marta, Halbritter Florian, Tumanov Alexei V, Kraakman Michael J, Metin Ayşe, Castanon Irinka, Erman Baran, Baris Safa, Boztug Kaan

TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability Syndrome

TREX四聚体破坏会改变THOC6智力障碍综合征中皮质发育所必需的RNA加工过程。

Elizabeth A Werren,Geneva R LaForce,Anshika Srivastava,Delia R Perillo,Shaokun Li,Katherine Johnson,Safa Baris,Brandon Berger,Samantha L Regan,Christian D Pfennig,Sonja de Munnik,Rolph Pfundt,Malavika Hebbar,Raúl Jimenez-Heredia,Elif Karakoc-Aydiner,Ahmet Ozen,Jasmin Dmytrus,Ana Krolo,Ken Corning,E J Prijoles,Raymond J Louie,Robert Roger Lebel,Thuy-Linh Le,Jeanne Amiel,Christopher T Gordon,Kaan Boztug ,Katta M Girisha,Anju Shukla,Stephanie L Bielas,Ashleigh E Schaffer

A single-center cohort study of patients with hereditary spherocytosis in Central Europe reveals a high frequency of novel disease-causing genotypes

一项针对中欧遗传性球形红细胞症患者的单中心队列研究揭示了新型致病基因型的高频率。

Kager, Leo; Jimenez-Heredia, Raúl; Zeitlhofer, Petra; Novak, Wolfgang; Eder, Sebastian K; Segarra-Roca, Anna; Frohne, Alexandra; Nebral, Karin; Haimel, Matthias; Geyeregger, René; Roetzer-Londgin, Katharina; Haas, Oskar A; Boztug, Kaan