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

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

[Recommendations of the DGRh Committee on Complementary Medicine and Nutrition on the application of selected phytotherapeutic drugs and herbal medicines in rheumatology]

[DGRh补充医学和营养委员会关于在风湿病学中应用特定植物疗法药物和草药的建议]

Keyßer, Gernot; Seifert, Olga; Frohne, Inna; Michalsen, Andreas; Pfeil, Alexander; Reuß-Borst, Monika; Sander, Oliver

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

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

Rapamycin Controls Lymphoproliferation and Reverses T-Cell Responses in a Patient with a Novel STIM1 Loss-of-Function Deletion

雷帕霉素控制淋巴细胞增殖并逆转患有新型 STIM1 功能丧失缺失的患者的 T 细胞反应

Ibrahim Serhat Karakus, Mehmet Cihangir Catak, Alexandra Frohne, Feyza Bayram Catak, Melek Yorgun Altunbas, Royala Babayeva, Sevgi Kostel Bal, Sevgi Bilgic Eltan, Ezgi Yalcin Gungoren, Fehim Esen, Itir Ebru Zemheri, Elif Karakoc-Aydiner, Ahmet Ozen, Suar Caki-Kilic, Michael J Kraakman, Kaan Boztug, 

Very-early-onset Inflammatory Bowel Disease in an Infant with a Partial RIPK1 Deletion

RIPK1 部分缺失婴儿的极早期炎症性肠病

Tuna Kırsaçlıoğlu, Ceyda; Frohne, Alexandra; Kuloğlu, Zarife; Kristofersdottir, Isidora; Demir, Engin; Altuntaş, Cansu; Haskoloğlu, Zehra Şule; Çobanoğlu, Fatma Nazan; Kendirli, Tanıl; Özdemir, Halil; Özçakar, Zeynep Birsin; Savaş, Berna; Doğu, Figen; İkincioğulları, Aydan; Boztug, Kaan; Kansu, Aydan

Mutational spectrum in patients with dominant non-syndromic hearing loss in Austria

奥地利显性非综合征型听力损失患者的突变谱

Frohne, Alexandra; Vrabel, Sybille; Laccone, Franco; Neesen, Juergen; Roesch, Sebastian; Dossena, Silvia; Schoefer, Christian; Frei, Klemens; Parzefall, Thomas

Biallelic NFATC1 mutations cause an inborn error of immunity with impaired CD8+ T-cell function and perturbed glycolysis

双等位基因 NFATC1 突变会导致先天性免疫缺陷,导致 CD8+ T 细胞功能受损和糖酵解紊乱

Sevgi Kostel Bal, Sarah Giuliani, Jana Block, Peter Repiscak, Christoph Hafemeister, Tala Shahin, Nurhan Kasap, Bernhard Ransmayr, Yirun Miao, Cheryl van de Wetering, Alexandra Frohne, Raul Jimenez Heredia, Michael Schuster, Samaneh Zoghi, Vanessa Hertlein, Marini Thian, Aleksandr Bykov, Royala Baba

Phosphomevalonate kinase deficiency expands the genetic spectrum of systemic autoinflammatory diseases

磷酸羟戊酸激酶缺乏症扩大了系统性自身炎症性疾病的遗传谱。

Berner, Jakob; van de Wetering, Cheryl; Jimenez Heredia, Raul; Rashkova, Christina; Ferdinandusse, Sacha; Koster, Janet; Weiss, Johannes G; Frohne, Alexandra; Giuliani, Sarah; Waterham, Hans R; Castanon, Irinka; Brunner, Jürgen; Boztug, Kaan

A homozygous AP3D1 missense variant in patients with sensorineural hearing loss as the leading manifestation

在以感音神经性听力损失为主要表现的患者中,AP3D1基因纯合错义变异是一种常见现象。

Frohne, Alexandra; Koenighofer, Martin; Cetin, Hakan; Nieratschker, Michael; Liu, David T; Laccone, Franco; Neesen, Juergen; Nemec, Stefan F; Schwarz-Nemec, Ursula; Schoefer, Christian; Avraham, Karen B; Frei, Klemens; Grabmeier-Pfistershammer, Katharina; Kratzer, Bernhard; Schmetterer, Klaus; Pickl, Winfried F; Parzefall, Thomas