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

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

期刊:Journal of Molecular Medicine-Jmm
影响因子:4.2
doi:10.1007/s00109-024-02482-0
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
AP1S1
发表日期：2024
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A Novel Case of Homozygous Interferon Alpha/Beta Receptor Alpha Chain (IFNAR1) Deficiency With Hemophagocytic Lymphohistiocytosis

一例伴有噬血细胞性淋巴组织细胞增生症的纯合子干扰素α/β受体α链（IFNAR1）缺陷新病例

期刊:Clinical Infectious Diseases
影响因子:7.3
doi:10.1093/cid/ciaa1790
Gothe, Florian; Hatton, Catherine F; Truong, Linh; Klimova, Zofia; Kanderova, Veronika; Fejtkova, Martina; Grainger, Angela; Bigley, Venetia; Perthen, Joanna; Mitra, Dipayan; Janda, Ales; Fronkova, Eva; Moravcikova, Dusana; Hambleton, Sophie; Duncan, Christopher J A
信号转导
细胞生物学
发表日期：2022
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Impact of JAK Inhibitors in Pediatric Patients with STAT1 Gain of Function (GOF) Mutations-10 Children and Review of the Literature

JAK抑制剂对STAT1功能获得性突变（GOF）患儿的影响——10例患儿及文献综述

期刊:Journal of Clinical Immunology
影响因子:5.7
doi:10.1007/s10875-022-01257-x
Deyà-Martínez, Angela; Rivière, Jaques G; Roxo-Junior, Pérsio; Ramakers, Jan; Bloomfield, Markéta; Guisado Hernandez, Paloma; Blanco Lobo, Pilar; Abu Jamra, Soraya Regina; Esteve-Sole, Ana; Kanderova, Veronika; García-García, Ana; Lopez-Corbeto, Mireia; Martinez Pomar, Natalia; Martín-Nalda, Andrea; Alsina, Laia; Neth, Olaf; Olbrich, Peter
JAK/STAT
STAT1
发表日期：2022
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Minimal Residual Disease-Guided Intermittent Dosing in Patients With Cancer: Successful Treatment of Chemoresistant Anaplastic Large Cell Lymphoma Using Intermittent Lorlatinib Dosing

癌症患者微小残留病灶指导的间歇给药：采用间歇性劳拉替尼治疗化疗耐药性间变性大细胞淋巴瘤的成功案例

期刊:Jco Precision Oncology
影响因子:5.6
doi:10.1200/PO.21.00525
Pokorna, Petra; Lakka Klement, Giannoula; Vasikova, Alzbeta; Kanderova, Veronika; Jezova, Marta; Noskova, Kristyna; Mudry, Peter; Kyr, Michal; Merta, Tomas; Bajciova, Viera; Krenova, Zdenka; Palova, Hana; Valik, Dalibor; Zdrazilova Dubska, Lenka; Slaby, Ondrej; Sterba, Jaroslav
细胞生物学
肿瘤
淋巴瘤
肿瘤免疫
发表日期：2022
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Somatic Mutations in Oncogenes Are in Chronic Myeloid Leukemia Acquired De Novo via Deregulated Base-Excision Repair and Alternative Non-Homologous End Joining

慢性粒细胞白血病中癌基因的体细胞突变是通过失调的碱基切除修复和替代性非同源末端连接从头获得的。

期刊:Frontiers in Oncology
影响因子:3.3
doi:10.3389/fonc.2021.744373
Curik, Nikola; Polivkova, Vaclava; Burda, Pavel; Koblihova, Jitka; Laznicka, Adam; Kalina, Tomas; Kanderova, Veronika; Brezinova, Jana; Ransdorfova, Sarka; Karasova, Dominika; Rejlova, Katerina; Bakardjieva, Marina; Kuzilkova, Daniela; Kundrat, David; Linhartova, Jana; Klamova, Hana; Salek, Cyril; Klener, Pavel; Hrusak, Ondrej; Machova Polakova, Katerina
肿瘤
肿瘤免疫
粒细胞
白血病
细胞生物学
发表日期：2021
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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

期刊:Blood
影响因子:23.1
doi:10.1182/blood.2019003178
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
细胞生物学
贫血
代谢
发表日期：2020
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Novel XIAP mutation causing enhanced spontaneous apoptosis and disturbed NOD2 signalling in a patient with atypical adult-onset Crohn's disease

新型 XIAP 突变导致非典型成人克罗恩病患者自发性细胞凋亡增强，NOD2 信号传导紊乱

期刊:Cell Death & Disease
影响因子:8.1
doi:10.1038/s41419-020-2652-4
Zuzana Parackova, Tomas Milota, Petra Vrabcova, Jitka Smetanova, Michael Svaton, Tomas Freiberger, Veronika Kanderova, Anna Sediva
信号转导
细胞生物学
其它细胞
Cell sorting
FCM
Apoptosis
发表日期：2020
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Transmembrane adaptor protein WBP1L regulates CXCR4 signalling and murine haematopoiesis

跨膜衔接蛋白 WBP1L 调节 CXCR4 信号传导和小鼠造血

期刊:Journal of Cellular and Molecular Medicine
影响因子:4.3
doi:10.1111/jcmm.14895
Simon Borna, Ales Drobek, Jarmila Kralova, Daniela Glatzova, Iva Splichalova, Matej Fabisik, Jana Pokorna, Tereza Skopcova, Pavla Angelisova, Veronika Kanderova, Julia Starkova, Petr Stanek, Orest V Matveichuk, Nataliia Pavliuchenko, Katarzyna Kwiatkowska, Majd B Protty, Michael G Tomlinson, Meritxe
信号转导
发表日期：2020
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Lymphoproliferation, immunodeficiency and early-onset inflammatory bowel disease associated with a novel mutation in Caspase 8

淋巴增生、免疫缺陷和早发性炎症性肠病与Caspase 8基因的新突变相关

期刊:Haematologica
影响因子:7.9
doi:10.3324/haematol.2018.201673
Kanderova, Veronika; Grombirikova, Hana; Zentsova, Irena; Reblova, Kamila; Klocperk, Adam; Fejtkova, Martina; Bloomfield, Marketa; Ravcukova, Barbora; Kalina, Tomas; Freiberger, Tomas; Sediva, Anna
炎症/感染
炎症
免疫/内分泌
发表日期：2019
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Novel SAMD9 Mutation in a Patient With Immunodeficiency, Neutropenia, Impaired Anti-CMV Response, and Severe Gastrointestinal Involvement

一名免疫缺陷、中性粒细胞减少、抗巨细胞病毒反应受损且伴有严重胃肠道受累的患者被发现存在新的SAMD9突变

期刊:Frontiers in Immunology
影响因子:5.9
doi:10.3389/fimmu.2019.02194
Formankova, Renata; Kanderova, Veronika; Rackova, Marketa; Svaton, Michael; Brdicka, Tomas; Riha, Petr; Keslova, Petra; Mejstrikova, Ester; Zaliova, Marketa; Freiberger, Tomas; Grombirikova, Hana; Zemanova, Zuzana; Vlkova, Marcela; Fencl, Filip; Copova, Ivana; Bronsky, Jiri; Jabandziev, Petr; Sedlacek, Petr; Soukalova, Jana; Zapletal, Ondrej; Stary, Jan; Trka, Jan; Kalina, Tomas; Skvarova Kramarzova, Karolina; Hlavackova, Eva; Litzman, Jiri; Fronkova, Eva
AMD
中性粒细胞
粒细胞
微生物学
细胞生物学
免疫/内分泌
发表日期：2019
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