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

NGS-MRD negativity in post-HSCT ALL spares unnecessary therapeutic interventions triggered by borderline qPCR results without an increase in relapse risk

在造血干细胞移植后急性淋巴细胞白血病(ALL)患者中,NGS-MRD阴性可避免因qPCR结果临界值而引发的不必要治疗干预,且不会增加复发风险。

Seferna, Krystof; Svaton, Michael; Rennerova, Andrea; Skotnicova, Aneta; Reznickova, Leona; Valova, Tatana; Sedlacek, Petr; Riha, Petr; Formankova, Renata; Keslova, Petra; Sramkova, Lucie; Stary, Jan; Zuna, Jan; Kolenova, Alexandra; Salek, Cyril; Trka, Jan; Fronkova, Eva

Biologic and Clinical Analysis of Childhood Gamma Delta T-ALL Identifies LMO2/STAG2 Rearrangements as Extremely High Risk.

儿童 Gamma Delta T-ALL 的生物学和临床分析表明 LMO2/STAG2 重排具有极高风险

Kimura Shunsuke, Park Chun Shik, Montefiori Lindsey E, Iacobucci Ilaria, Pölönen Petri, Gao Qingsong, Arnold Elizabeth D, Attarbaschi Andishe, Brown Anthony, Buldini Barbara, Caldwell Kenneth J, Chang Yunchao, Chen Chelsey, Cheng Cheng, Cheng Zhongshan, Choi John, Conter Valentino, Crews Kristine R, de Groot-Kruseman Hester A, Deguchi Takao, Eguchi Mariko, Muhle Hannah E, Elitzur Sarah, Escherich Gabriele, Freeman Burgess B 3rd, Gu Zhaohui, Han Katie, Horibe Keizo, Imamura Toshihiko, Jeha Sima, Kato Motohiro, Chiew Kean H, Khan Tanya, Kicinski Michal, Köhrer Stefan, Kornblau Steven M, Kotecha Rishi S, Li Chi-Kong, Liu Yen-Chun, Locatelli Franco, Luger Selina M, Paietta Elisabeth M, Manabe Atsushi, Marquart Hanne V, Masetti Riccardo, Maybury Mellissa, Mazilier Pauline, Meijerink Jules P P, Mitchell Sharnise, Miyamura Takako, Moore Andrew S, Oshima Koichi, Pawinska-Wasikowska Katarzyna, Pieters Rob, Prater Mollie S, Pruett-Miller Shondra M, Pui Ching-Hon, Qu Chunxu, Reiterova Michaela, Reyes Noemi, Roberts Kathryn G, Rowe Jacob M, Sato Atsushi, Schmiegelow Kjeld, Schrappe Martin, Shen Shuhong, Skoczeń Szymon, Spinelli Orietta, Stary Jan, Svaton Michael, Takagi Masatoshi, Takita Junko, Tang Yanjing, Teachey David T, Thomas Paul G, Tomizawa Daisuke, Trka Jan, Varotto Elena, Vincent Tiffaney L, Yang Jun J, Yeoh Allen E J, Zhou Yinmei, Zimmermann Martin, Inaba Hiroto, Mullighan Charles G

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

The gray area of RQ-PCR-based measurable residual disease: subdividing the "positive, below quantitative range" category

基于RQ-PCR的可测量残留病灶的灰色地带:细分“阳性,低于定量范围”类别

Kotrova, Michaela; Fronkova, Eva; Svaton, Michael; Drandi, Daniela; Schön, Felix; Hoogeveen, Patricia; Hancock, Jeremy; Skotnicova, Aneta; Schilhabel, Anke; Eckert, Cornelia; Clappier, Emmanuelle; Cazzaniga, Gianni; Schäfer, Beat W; van Dongen, Jacques J M; Ritgen, Matthias; Pott, Christiane; van der Velden, Vincent H J; Trka, Jan; Brüggemann, Monika

Revising pathogenesis of AP1S1-related MEDNIK syndrome: a missense variant in the AP1S1 gene as a causal genetic lesion

修正AP1S1相关MEDNIK综合征的发病机制:AP1S1基因中的错义变异是致病基因病变

Rackova, Marketa; Mattera, Rafael; Svaton, Michael; Fencl, Filip; Kanderova, Veronika; Spicakova, Karolina; Park, Sang Yoon; Fabian, Ondrej; Koblizek, Miroslav; Fronkova, Eva; Bonifacino, Juan S; Skvarova Kramarzova, Karolina

P754: PRIME EDITING AS A NOVEL TOOL FOR PRECISE CORRECTION OF CAUSAL MUTATIONS IN FANCONI ANAEMIA GROUP A PATIENT-DERIVED CELLS

P754:PRIME 编辑作为一种新型工具,用于精确纠正范可尼贫血 A 组患者来源细胞中的致病突变

Miller, G A; Peterkova, Lucie; Racková, Markéta; Svaton, Michael; Riha, Petr; Novotna, Drahuse; Sedlacek, Petr; Sramkova, Lucie; Skvarova, Karolina

Biologic and clinical features of childhood gamma delta T-ALL: identification of STAG2/LMO2 γδ T-ALL as an extremely high risk leukemia in the very young

儿童γδT细胞急性淋巴细胞白血病(γδT-ALL)的生物学和临床特征:STAG2/LMO2 γδT-ALL被鉴定为极低危的婴幼儿白血病

Kimura, Shunsuke; Polonen, Petri; Montefiori, Lindsey; Park, Chun Shik; Iacobucci, Ilaria; Yeoh, Allen Ej; Attarbaschi, Andishe; Moore, Andrew S; Brown, Anthony; Manabe, Atsushi; Buldini, Barbara; Freeman, Burgess B; Chen, Chelsey; Cheng, Cheng; Kean Hui, Chiew; Li, Chi-Kong; Pui, Ching-Hon; Qu, Chunxu; Tomizawa, Daisuke; Teachey, David T; Varotto, Elena; Paietta, Elisabeth M; Arnold, Elizabeth D; Locatelli, Franco; Escherich, Gabriele; Elisa Muhle, Hannah; Marquart, Hanne Vibeke; de Groot-Kruseman, Hester A; Rowe, Jacob M; Stary, Jan; Trka, Jan; Choi, John Kim; Meijerink, Jules P P; Yang, Jun J; Takita, Junko; Pawinska-Wasikowska, Katarzyna; Roberts, Kathryn G; Han, Katie; Caldwell, Kenneth J; Schmiegelow, Kjeld; Crews, Kristine R; Eguchi, Mariko; Schrappe, Martin; Zimmerman, Martin; Takagi, Masatoshi; Maybury, Mellissa; Svaton, Michael; Reiterova, Michaela; Kicinski, Michal; Prater, Mollie S; Kato, Motohiro; Reyes, Noemi; Spinelli, Orietta; Thomas, Paul; Mazilier, Pauline; Gao, Qingsong; Masetti, Riccardo; Kotecha, Rishi S; Pieters, Rob; Elitzur, Sarah; Luger, Selina M; Mitchell, Sharnise; Pruett-Miller, Shondra M; Shen, Shuhong; Jeha, Sima; Köhrer, Stefan; Kornblau, Steven M; Skoczeń, Szymon; Miyamura, Takako; Vincent, Tiffaney L; Imamura, Toshihiko; Conter, Valentino; Tang, Yanjing; Liu, Yen-Chun; Chang, Yunchao; Gu, Zhaohui; Cheng, Zhongshan; Yinmei, Zhou; Inaba, Hiroto; Mullighan, Charles G

Quality Control for IG /TR Marker Identification and MRD Analysis

IG/TR 标志物鉴定和 MRD 分析的质量控制

Fronkova, Eva; Svaton, Michael; Trka, Jan

A homozygous deletion in the SLC19A1 gene as a cause of folate-dependent recurrent megaloblastic anemia

SLC19A1基因纯合缺失是叶酸依赖性复发性巨幼细胞性贫血的病因之一

Svaton, Michael; Skvarova Kramarzova, Karolina; Kanderova, Veronika; Mancikova, Andrea; Smisek, Petr; Jesina, Pavel; Krijt, Jakub; Stiburkova, Blanka; Dobrovolny, Robert; Sokolova, Jitka; Bakardjieva-Mihaylova, Violeta; Vodickova, Elena; Rackova, Marketa; Stuchly, Jan; Kalina, Tomas; Stary, Jan; Trka, Jan; Fronkova, Eva; Kozich, Viktor

Concurrent TP53 and CDKN2A Gene Aberrations in Newly Diagnosed Mantle Cell Lymphoma Correlate with Chemoresistance and Call for Innovative Upfront Therapy

新诊断的套细胞淋巴瘤中TP53和CDKN2A基因同时异常与化疗耐药性相关,提示需要创新的一线治疗方案。

Malarikova, Diana; Berkova, Adela; Obr, Ales; Blahovcova, Petra; Svaton, Michael; Forsterova, Kristina; Kriegova, Eva; Prihodova, Eva; Pavlistova, Lenka; Petrackova, Anna; Zemanova, Zuzana; Trneny, Marek; Klener, Pavel