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

Epigenetic Age Acceleration in Frontotemporal Lobar Degeneration: A Comprehensive Analysis in the Blood and Brain

额颞叶变性中的表观遗传年龄加速:血液和脑组织的综合分析

Murthy, Megha; Rizzu, Patrizia; Heutink, Peter; Mill, Jonathan; Lashley, Tammaryn; Bettencourt, Conceição

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

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

The wide genetic landscape of clinical frontotemporal dementia: systematic combined sequencing of 121 consecutive subjects

临床额颞叶痴呆的广泛遗传图谱:对121例连续受试者进行系统性联合测序

Blauwendraat, Cornelis; Wilke, Carlo; Simón-Sánchez, Javier; Jansen, Iris E; Reifschneider, Anika; Capell, Anja; Haass, Christian; Castillo-Lizardo, Melissa; Biskup, Saskia; Maetzler, Walter; Rizzu, Patrizia; Heutink, Peter; Synofzik, Matthis

An integrated expression atlas of miRNAs and their promoters in human and mouse

人类和小鼠miRNA及其启动子的整合表达图谱

de Rie, Derek; Abugessaisa, Imad; Alam, Tanvir; Arner, Erik; Arner, Peter; Ashoor, Haitham; Åström, Gaby; Babina, Magda; Bertin, Nicolas; Burroughs, A Maxwell; Carlisle, Ailsa J; Daub, Carsten O; Detmar, Michael; Deviatiiarov, Ruslan; Fort, Alexandre; Gebhard, Claudia; Goldowitz, Daniel; Guhl, Sven; Ha, Thomas J; Harshbarger, Jayson; Hasegawa, Akira; Hashimoto, Kosuke; Herlyn, Meenhard; Heutink, Peter; Hitchens, Kelly J; Hon, Chung Chau; Huang, Edward; Ishizu, Yuri; Kai, Chieko; Kasukawa, Takeya; Klinken, Peter; Lassmann, Timo; Lecellier, Charles-Henri; Lee, Weonju; Lizio, Marina; Makeev, Vsevolod; Mathelier, Anthony; Medvedeva, Yulia A; Mejhert, Niklas; Mungall, Christopher J; Noma, Shohei; Ohshima, Mitsuhiro; Okada-Hatakeyama, Mariko; Persson, Helena; Rizzu, Patrizia; Roudnicky, Filip; Sætrom, Pål; Sato, Hiroki; Severin, Jessica; Shin, Jay W; Swoboda, Rolf K; Tarui, Hiroshi; Toyoda, Hiroo; Vitting-Seerup, Kristoffer; Winteringham, Louise; Yamaguchi, Yoko; Yasuzawa, Kayoko; Yoneda, Misako; Yumoto, Noriko; Zabierowski, Susan; Zhang, Peter G; Wells, Christine A; Summers, Kim M; Kawaji, Hideya; Sandelin, Albin; Rehli, Michael; Hayashizaki, Yoshihide; Carninci, Piero; Forrest, Alistair R R; de Hoon, Michiel J L

A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia.

DAB1 非编码区插入五核苷酸 ATTTC 重复序列,定位于 SCA37,导致脊髓小脑性共济失调

Seixas Ana I, Loureiro Joana R, Costa Cristina, Ordóñez-Ugalde Andrés, Marcelino Hugo, Oliveira Cláudia L, Loureiro José L, Dhingra Ashutosh, Brandão Eva, Cruz Vitor T, Timóteo Angela, Quintáns Beatriz, Rouleau Guy A, Rizzu Patrizia, Carracedo Ángel, Bessa José, Heutink Peter, Sequeiros Jorge, Sobrido Maria J, Coutinho Paula, Silveira Isabel

Transcription start site profiling of 15 anatomical regions of the Macaca mulatta central nervous system

对猕猴中枢神经系统15个解剖区域的转录起始位点进行分析

Francescatto, Margherita; Lizio, Marina; Philippens, Ingrid; Pardo, Luba M; Bontrop, Ronald; Sakai, Mizuho; Watanabe, Shoko; Itoh, Masayoshi; Hasegawa, Akira; Lassmann, Timo; Severin, Jessica; Harshbarger, Jayson; Abugessaisa, Imad; Kasukawa, Takeya; Carninci, Piero; Hayashizaki, Yoshihide; Forrest, Alistair R R; Kawaji, Hideya; Rizzu, Patrizia; Heutink, Peter