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

Site-saturation functional screens identify PALB2 missense variants associated with increased breast cancer risk.

位点饱和功能筛选可识别与乳腺癌风险增加相关的 PALB2 错义变异。

Boonen Rick A C M, Knaup Sabine C, Menafra Roberta, Braspenning Merel E, Rother Magdalena B, Kleiblova Petra, Janatova Marketa, Ruano Dina, Hu Chunling, Huang Huaizhi, Joseph Vijai, Conry Michael, Heijl Stephan, Vroling Bas, Goeman Jelle J, Varga Matthew, Richardson Marcy E, Kloet Susan L, Couch Fergus J, Vreeswijk Maaike P G, van Attikum Haico

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

The Efficacy of Blood Flow Restriction Training to Improve Quadriceps Muscle Function after Anterior Cruciate Ligament Reconstruction.

血流限制训练对改善前交叉韧带重建术后股四头肌功能的疗效

Erickson Lauren N, Owen Meredith K, Casadonte Kelsey R, Janatova Tereza, Lucas Kathryn, Spencer Kylie, Brightwell Benjamin D, Graham Megan C, White McKenzie S, Thomas Nicholas T, Latham Christine M, Jacobs Cale A, Conley Caitlin E, Thompson Katherine L, Johnson Darren L, Hardy Peter A, Fry Christopher S, Noehren Brian

Metal Hypersensitivity in Patients With Failure of Joint Prosthesis Treatment

关节假体治疗失败患者的金属过敏

Bruna, Jana; Prochazkova, Jarmila; Podzimek, Stepan; Himmlova, Lucie; Janatova, Tatjana; Vinsu, Alex

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

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

RAD51 recruitment but not replication fork stability associates with PARP inhibitor response in ovarian cancer patient-derived xenograft models

在卵巢癌患者异种移植模型中,RAD51 募集而非复制叉稳定性与 PARP 抑制剂反应相关

Francien Talens, Vivian Oliviera Nunes Teixeira, Yannick P Kok, Mengting Chen, Efraim H Rosenberg, Rashmie Debipersad, Evelien W Duiker, Nathalie van den Tempel, Marketa Janatova, Petra Zemankova, Petra M Nederlof, G Bea A Wisman, Zdenek Kleibl, Steven de Jong, Marcel A T M van Vugt

ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk

ENIGMA CHEK2gether 项目:一项综合研究确定了与乳腺癌风险增加相关的功能受损 CHEK2 种系错义变异

Lenka Stolarova #, Petra Kleiblova #, Petra Zemankova, Barbora Stastna, Marketa Janatova, Jana Soukupova, Maria Isabel Achatz, Christine Ambrosone, Paraskevi Apostolou, Banu K Arun, Paul Auer, Mollie Barnard, Birgitte Bertelsen; Biobank Japan; Marinus J Blok, Nicholas Boddicker, Joan Brunet, Elizabe

Importance of Germline and Somatic Alterations in Human MRE11, RAD50, and NBN Genes Coding for MRN Complex

人类MRE11、RAD50和NBN基因(编码MRN复合物)的种系和体细胞改变的重要性

Otahalova, Barbora; Volkova, Zuzana; Soukupova, Jana; Kleiblova, Petra; Janatova, Marketa; Vocka, Michal; Macurek, Libor; Kleibl, Zdenek

Early-Onset Ovarian Cancer <30 Years: What Do We Know about Its Genetic Predisposition?

30岁以下人群罹患早发性卵巢癌:我们对它的遗传易感性了解多少?

Horackova, Klara; Janatova, Marketa; Kleiblova, Petra; Kleibl, Zdenek; Soukupova, Jana