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

The insertion of an ATTTC repeat in an Alu element hyperactivates a neurodevelopmental enhancer in spinocerebellar ataxia type 37

在脊髓小脑性共济失调37型中,Alu元件中插入ATTTC重复序列会过度激活神经发育增强子。

Loureiro, Joana R; Castro, Ana F; Figueiredo, Ana S; Eufrásio, Ana; Dhingra, Ashutosh; Galhardo, Mafalda; Marcelino, Hugo; Rodrigues, Catarina C; Sampaio, Paula; Azevedo, Maria; Sousa, Mafalda; Dória, Sofia; Rizzu, Patrizia; Heutink, Peter; Bessa, José; Silveira, Isabel

Chr:17q21.31 locus risk haplotype H1 susceptibility to ferroptosis is mediated by endolysosomal pathway

17号染色体q21.31位点风险单倍型H1对铁死亡的易感性是由内溶酶体途径介导的。

Sadikoglou, Eldem; Domingo-Fernández, Daniel; Savytska, Natalia; Fernandes, Noemia; Rizzu, Patrizia; Illarionova, Anastasia; Strauß, Tabea; Schwarz, Sigrid C; Kodamullil, Alpha; Höglinger, Günter U; Dhingra, Ashutosh; Gasser, Thomas; Heutink, Peter

Application of IVDr NMR spectroscopy to stratify Parkinson's disease with absolute quantitation of blood serum metabolites and lipoproteins

应用体外核磁共振波谱技术对帕金森病进行分层,并对血清代谢物和脂蛋白进行绝对定量分析

Berezhnoy, Georgy; Bae, Gyuntae; Wüst, Leonie; Schulte, Claudia; Cannet, Claire; Wurster, Isabel; Zimmermann, Milan; Jäck, Alexander; Spruth, Eike Jakob; Hellmann-Regen, Julian; Roeske, Sandra; Pürner, Dominik; Glanz, Wenzel; Maass, Fabian; Hufschmidt, Felix; Kilimann, Ingo; Dinter, Elisabeth; Kimmich, Okka; Gamez, Anna; Levin, Johannes; Priller, Josef; Peters, Oliver; Wagner, Michael; Storch, Alexander; Lingor, Paul; Düzel, Emrah; van Riesen, Christoph; Wüllner, Ullrich; Teipel, Stefan; Falkenburger, Björn; Bähr, Mathias; Zerr, Inga; Petzold, Gabor C; Spottke, Annika; Rizzu, Patricia; Brosseron, Frederic; Schäfer, Hartmut; Gasser, Thomas; Trautwein, Christoph

Brain DNA methylomic analysis of frontotemporal lobar degeneration reveals OTUD4 in shared dysregulated signatures across pathological subtypes

额颞叶变性的脑 DNA 甲基化分析表明,OTUD4 在各种病理亚型中均存在共同的失调特征

Katherine Fodder, Megha Murthy, Patrizia Rizzu, Christina E Toomey, Rahat Hasan, Jack Humphrey, Towfique Raj, Katie Lunnon, Jonathan Mill, Peter Heutink, Tammaryn Lashley, Conceição Bettencourt

Evaluation of Agronomic Characteristics, Disease Incidence, Yield Performance, and Aflatoxin Accumulation among Six Peanut Varieties (Arachis hypogea L.) Grown in Kenya

对肯尼亚种植的六个花生品种(Arachis hypogea L.)的农艺性状、病害发生率、产量表现和黄曲霉毒素积累情况进行评估

Njoki, Loise; Okoth, Sheila; Wachira, Peter; Ouko, Abigael; Mwololo, James; Rizzu, Margherita; Oufensou, Safa; Amakhobe, Truphosa

Distinct cell type-specific protein signatures in GRN and MAPT genetic subtypes of frontotemporal dementia

额颞叶痴呆症 GRN 和 MAPT 基因亚型中存在不同的细胞类型特异性蛋白质特征

Suzanne S M Miedema, Merel O Mol, Frank T W Koopmans, David C Hondius, Pim van Nierop, Kevin Menden, Christina F de Veij Mestdagh, Jeroen van Rooij, Andrea B Ganz, Iryna Paliukhovich, Shamiram Melhem, Ka Wan Li, Henne Holstege, Patrizia Rizzu, Ronald E van Kesteren, John C van Swieten, Peter Heutink

Functional annotation of human long noncoding RNAs via molecular phenotyping

通过分子表型分析对人类长链非编码RNA进行功能注释

Ramilowski, Jordan A; Yip, Chi Wai; Agrawal, Saumya; Chang, Jen-Chien; Ciani, Yari; Kulakovskiy, Ivan V; Mendez, Mickaël; Ooi, Jasmine Li Ching; Ouyang, John F; Parkinson, Nick; Petri, Andreas; Roos, Leonie; Severin, Jessica; Yasuzawa, Kayoko; Abugessaisa, Imad; Akalin, Altuna; Antonov, Ivan V; Arner, Erik; Bonetti, Alessandro; Bono, Hidemasa; Borsari, Beatrice; Brombacher, Frank; Cameron, Christopher JF; Cannistraci, Carlo Vittorio; Cardenas, Ryan; Cardon, Melissa; Chang, Howard; Dostie, Josée; Ducoli, Luca; Favorov, Alexander; Fort, Alexandre; Garrido, Diego; Gil, Noa; Gimenez, Juliette; Guler, Reto; Handoko, Lusy; Harshbarger, Jayson; Hasegawa, Akira; Hasegawa, Yuki; Hashimoto, Kosuke; Hayatsu, Norihito; Heutink, Peter; Hirose, Tetsuro; Imada, Eddie L; Itoh, Masayoshi; Kaczkowski, Bogumil; Kanhere, Aditi; Kawabata, Emily; Kawaji, Hideya; Kawashima, Tsugumi; Kelly, S Thomas; Kojima, Miki; Kondo, Naoto; Koseki, Haruhiko; Kouno, Tsukasa; Kratz, Anton; Kurowska-Stolarska, Mariola; Kwon, Andrew Tae Jun; Leek, Jeffrey; Lennartsson, Andreas; Lizio, Marina; López-Redondo, Fernando; Luginbühl, Joachim; Maeda, Shiori; Makeev, Vsevolod J; Marchionni, Luigi; Medvedeva, Yulia A; Minoda, Aki; Müller, Ferenc; Muñoz-Aguirre, Manuel; Murata, Mitsuyoshi; Nishiyori, Hiromi; Nitta, Kazuhiro R; Noguchi, Shuhei; Noro, Yukihiko; Nurtdinov, Ramil; Okazaki, Yasushi; Orlando, Valerio; Paquette, Denis; Parr, Callum J C; Rackham, Owen J L; Rizzu, Patrizia; Sánchez Martinez, Diego Fernando; Sandelin, Albin; Sanjana, Pillay; Semple, Colin A M; Shibayama, Youtaro; Sivaraman, Divya M; Suzuki, Takahiro; Szumowski, Suzannah C; Tagami, Michihira; Taylor, Martin S; Terao, Chikashi; Thodberg, Malte; Thongjuea, Supat; Tripathi, Vidisha; Ulitsky, Igor; Verardo, Roberto; Vorontsov, Ilya E; Yamamoto, Chinatsu; Young, Robert S; Baillie, J Kenneth; Forrest, Alistair R R; Guigó, Roderic; Hoffman, Michael M; Hon, Chung Chau; Kasukawa, Takeya; Kauppinen, Sakari; Kere, Juha; Lenhard, Boris; Schneider, Claudio; Suzuki, Harukazu; Yagi, Ken; de Hoon, Michiel J L; Shin, Jay W; Carninci, Piero

Experimental glioma with high bHLH expression harbor increased replicative stress and are sensitive toward ATR inhibition

bHLH高表达的实验性胶质瘤具有更高的复制压力,并且对ATR抑制剂敏感。

Koch, Marilin Sophia; Czemmel, Stefan; Lennartz, Felix; Beyeler, Sarah; Rajaraman, Srinath; Przystal, Justyna Magdalena; Govindarajan, Parameswari; Canjuga, Denis; Neumann, Manfred; Rizzu, Patrizia; Zwirner, Stefan; Hoetker, Michael Stefan; Zender, Lars; Walter, Bianca; Tatagiba, Marcos; Raineteau, Olivier; Heutink, Peter; Nahnsen, Sven; Tabatabai, Ghazaleh

Clinical and pathologic phenotype of a large family with heterozygous STUB1 mutation

杂合STUB1突变大家族的临床和病理表型

Merel O Mol, Jeroen G J van Rooij, Esther Brusse, Annemieke J M H Verkerk, Shamiram Melhem, Wilfred F A den Dunnen, Patrizia Rizzu, Chiara Cupidi, John C van Swieten, Laura Donker Kaat

Antisense Transcription in Loci Associated to Hereditary Neurodegenerative Diseases

与遗传性神经退行性疾病相关的基因位点中的反义转录

Zucchelli, Silvia; Fedele, Stefania; Vatta, Paolo; Calligaris, Raffaella; Heutink, Peter; Rizzu, Patrizia; Itoh, Masayoshi; Persichetti, Francesca; Santoro, Claudio; Kawaji, Hideya; Lassmann, Timo; Hayashizaki, Yoshihide; Carninci, Piero; Forrest, Alistair R R; Gustincich, Stefano