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

Large-scale meta-analysis and precision functional assays identify FANCM regions in which PTVs confer different risks for ER-negative and triple-negative breast cancer

大规模荟萃分析和精准功能分析确定了FANCM区域中PTV赋予ER阴性和三阴性乳腺癌不同风险的基因表达谱。

Billaud, Amandine; Figlioli, Gisella; Mooser, Clémence; Casamassima, Irene; Azzoni, Violette; Srivatsa, Jahnavi; Colombo, Mara; Caleca, Laura; Ahearn, Thomas U; Andrulis, Irene L; Antoniou, Antonis C; Beckmann, Matthias W; Behrens, Sabine; Bermisheva, Marina; Bogdanova, Natalia V; Bolla, Manjeet K; Bonanni, Bernardo; Brüning, Thomas; Camp, Nicola J; Campbell, Archie; Castelao, Jose E; Cessna, Melissa H; Chang-Claude, Jenny; Czene, Kamila; Dennis, Joe; Devilee, Peter; Dörk, Thilo; Dunning, Alison M; Eriksson, Mikael; Evans, D Gareth; Fasching, Peter A; Figueroa, Jonine D; Gabrielson, Marike; Gago-Dominguez, Manuela; González-Neira, Anna; Guénel, Pascal; Hadjisavvas, Andreas; Hahnen, Eric; Hamann, Ute; Hillemanns, Peter; Hollestelle, Antoinette; Hooning, Maartje J; Hoppe, Reiner; Howell, Anthony; Jakubowska, Anna; Kristensen, Vessela N; Lubiński, Jan; Lush, Michael; Manoukian, Siranoush; Mavroudis, Dimitrios; Milne, Roger L; Mulligan, Anna Marie; Newman, William G; Obi, Nadia; Panayiotidis, Mihalis I; Pita, Guillermo; Rashid, Muhammad U; Rhenius, Valerie; Saloustros, Emmanouil; Sawyer, Elinor J; Schmutzler, Rita K; Shah, Mitul; Southey, Melissa C; Spurdle, Amanda B; Tomlinson, Ian; Truong, Thérèse; Wang, Qin; Wendt, Camilla; Auer, Paul L; Boddicker, Nicholas J; Bodelon, Clara; Burnside, Elizabeth S; Chen, Fei; Couch, Fergus J; Domchek, Susan M; Eliassen, Heather A; Haiman, Christopher; Hodge, James M; Hu, Chunling; Huang, Hongyan; Lindstrom, Sara; Martinez, Maria Elena; Nathanson, Katherine L; Neuhausen, Susan L; O'Brien, Katie M; Olson, Janet E; Palmer, Julie R; Patel, Alpa V; Ruddy, Kathryn J; Sandler, Dale P; Teras, Lauren R; Weinberg, Clarice R; Weitzel, Jeffrey N; Winham, Stacey J; Yadav, Siddhartha; Yao, Song; Zirpoli, Gary; Janatova, Marketa; Kleibl, Zdenek; Kleiblova, Petra; Soukupova, Jana; Zhao, Qihong; Devereux, Lisa; James, Paul A; Campbell, Ian G; Nguyen-Dumont, Tu; Dowty, James G; Andrieu, Nadine; Lesueur, Fabienne; Stoppa-Lyonnet, Dominique; Hoya, Miguel de la; Radice, Paolo; Sørensen, Claus Storgaard; Peterlongo, Paolo

In-frame germline TP53 variant impairs p53 oligomerization and predisposes to cancer

TP53基因框内变异会损害p53寡聚化并增加患癌风险。

Vanikova, Lucie; Machackova, Eva; Nemcova, Barbora; Soukupova, Jana; Petrezselyova, Silvia; Novakova, Klara; Zenatova, Marcela; Pavlova, Sarka; Kleiblova, Petra; Kleibl, Zdenek; Foretova, Lenka; Macurek, Libor

A retrospective single-center pilot study of the genetic background of the transplanted kidney

一项回顾性单中心试点研究,旨在探讨移植肾脏的遗传背景。

Novotna, Anna; Horackova, Klara; Soukupova, Jana; Zemankova, Petra; Nehasil, Petr; Just, Pavel; Voska, Ludek; Kleiblova, Petra; Rajnochova Bloudickova, Silvie

A deep intronic recurrent CHEK2 variant c.1009-118_1009-87delinsC affects pre-mRNA splicing and contributes to hereditary breast cancer predisposition

CHEK2基因深内含子复发性变异c.1009-118_1009-87delinsC影响前体mRNA剪接,并与遗传性乳腺癌易感性相关。

Zemankova, Petra; Cerna, Marta; Horackova, Klara; Ernst, Corinna; Soukupova, Jana; Borecka, Marianna; Blümcke, Britta; Cerna, Leona; Cerna, Monika; Curtisova, Vaclava; Dolezalova, Tatana; Duskova, Petra; Dvorakova, Lenka; Foretova, Lenka; Havranek, Ondrej; Hauke, Jan; Hahnen, Eric; Hodulova, Miloslava; Hovhannisyan, Milena; Hruskova, Lucie; Janatova, Marketa; Janikova, Maria; Jelinkova, Sandra; Just, Pavel; Kosarova, Marcela; Koudova, Monika; Krutilkova, Vera; Machackova, Eva; Matejkova, Katerina; Michalovska, Renata; Misove, Adela; Nehasil, Petr; Nemcova, Barbora; Novotny, Jan; Panczak, Ales; Pesek, Pavel; Scheinost, Ondrej; Springer, Drahomira; Stastna, Barbora; Stranecky, Viktor; Subrt, Ivan; Tavandzis, Spiros; Tureckova, Eva; Vesela, Kamila; Vlckova, Zdenka; Vocka, Michal; Wappenschmidt, Barbara; Zima, Tomas; Kleibl, Zdenek; Kleiblova, Petra

Gene therapy for epilepsy targeting neuropeptide Y and its Y2 receptor to dentate gyrus granule cells

针对神经肽Y及其Y2受体的齿状回颗粒细胞的癫痫基因治疗

Stefano Cattaneo #, Barbara Bettegazzi #, Lucia Crippa, Laila Asth, Maria Regoni, Marie Soukupova, Silvia Zucchini, Alessio Cantore, Franca Codazzi, Flavia Valtorta, Michele Simonato

Viral Vector-Based Gene Therapy for Epilepsy: What Does the Future Hold?

基于病毒载体的癫痫基因疗法:未来会怎样?

Bettegazzi, Barbara; Cattaneo, Stefano; Simonato, Michele; Zucchini, Silvia; Soukupova, Marie

A comprehensive analysis of germline predisposition to early-onset ovarian cancer

对早发性卵巢癌的种系易感性进行全面分析

Horackova, Klara; Zemankova, Petra; Nehasil, Petr; Vocka, Michal; Hovhannisyan, Milena; Matejkova, Katerina; Janatova, Marketa; Cerna, Marta; Kleiblova, Petra; Jelinkova, Sandra; Stastna, Barbora; Just, Pavel; Dolezalova, Tatana; Nemcova, Barbora; Urbanova, Marketa; Koudova, Monika; Hazova, Jana; Machackova, Eva; Foretova, Lenka; Stranecky, Viktor; Zikan, Michal; Kleibl, Zdenek; Soukupova, Jana

A comprehensive study evaluating germline FANCG variants in predisposition to breast and ovarian cancer

一项评估种系 FANCG 变异与乳腺癌和卵巢癌易感性的综合研究

Jana Soukupova, Barbora Stastna, Madiha Kanwal, Jan Hojny, Petra Zemankova, Marianna Borecka, Leona Cerna, Marta Cerna, Monika Cerna, Vaclava Curtisova, Tatana Dolezalova, Petra Duskova, Lenka Foretova, Ondrej Havranek, Klara Horackova, Milena Hovhannisyan, Lucie Hruskova, Stepan Chvojka, Marketa Ja

Cognitive comorbidities in the rat pilocarpine model of epilepsy

大鼠毛果芸香碱癫痫模型中的认知共病

Guarino, Annunziata; Pignata, Paola; Lovisari, Francesca; Asth, Laila; Simonato, Michele; Soukupova, Marie

Allogenic faecal microbiota transplantation for antibiotic-associated diarrhoea in critically ill patients (FEBATRICE)-Study protocol for a multi-centre randomised controlled trial (phase II)

异体粪便微生物移植治疗危重症患者抗生素相关性腹泻(FEBATRICE)——多中心随机对照试验(II期)研究方案

Cibulkova, Ivana; Rehorova, Veronika; Soukupova, Hana; Waldauf, Petr; Cahova, Monika; Manak, Jan; Matejovic, Martin; Duska, Frantisek