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

α-Synuclein seeding activity in duodenum biopsies from Parkinson's disease patients

帕金森病患者十二指肠活检组织中α-突触核蛋白的种子活性

Vascellari, Sarah; Orrù, Christina D; Groveman, Bradley R; Parveen, Sabiha; Fenu, Giuseppe; Pisano, Giada; Piga, Giuseppe; Serra, Giulia; Oppo, Valentina; Murgia, Daniela; Perra, Andrea; Angius, Fabrizio; Hughson, Andrew G; Haigh, Cathryn L; Manzin, Aldo; Cossu, Giovanni; Caughey, Byron

Deciphering clinical significance of BCL11A isoforms and protein expression roles in triple-negative breast cancer subtype

揭示 BCL11A 亚型的临床意义和三阴性乳腺癌亚型中的蛋白质表达作用

Andrea Angius #, Giovanna Pira #, Paolo Cossu-Rocca, Giovanni Sotgiu, Laura Saderi, Maria Rosaria Muroni, Patrizia Virdis, Daniela Piras, Rallo Vincenzo, Ciriaco Carru, Donatella Coradduzza, Maria Gabriela Uras, Pierina Cottu, Alessandro Fancellu, Sandra Orrù, Paolo Uva, Maria Rosaria De Miglio

The Changing Landscape of Naive T Cell Receptor Repertoire With Human Aging

随着人类衰老,幼稚 T 细胞受体库的变化情况

Evgeny S Egorov, Sofya A Kasatskaya, Vasiliy N Zubov, Mark Izraelson, Tatiana O Nakonechnaya, Dmitriy B Staroverov, Andrea Angius, Francesco Cucca, Ilgar Z Mamedov, Elisa Rosati, Andre Franke, Mikhail Shugay, Mikhail V Pogorelyy, Dmitriy M Chudakov, Olga V Britanova

Population- and individual-specific regulatory variation in Sardinia

撒丁岛的群体和个体特异性调控变异

Mauro Pala ,Zachary Zappala ,Mara Marongiu ,Xin Li ,Joe R Davis ,Roberto Cusano ,Francesca Crobu ,Kimberly R Kukurba ,Michael J Gloudemans ,Frederic Reinier ,Riccardo Berutti ,Maria G Piras ,Antonella Mulas ,Magdalena Zoledziewska ,Michele Marongiu ,Elena P Sorokin ,Gaelen T Hess ,Kevin S Smith ,Fabio Busonero ,Andrea Maschio ,Maristella Steri ,Carlo Sidore ,Serena Sanna ,Edoardo Fiorillo ,Michael C Bassik ,Stephen J Sawcer ,Alexis Battle ,John Novembre ,Chris Jones ,Andrea Angius ,Gonçalo R Abecasis ,David Schlessinger ,Francesco Cucca ,Stephen B Montgomery

DNA hydroxymethylation controls cardiomyocyte gene expression in development and hypertrophy

DNA 羟甲基化控制心肌细胞在发育和肥大过程中的基因表达

Carolina M Greco, Paolo Kunderfranco, Marcello Rubino, Veronica Larcher, Pierluigi Carullo, Achille Anselmo, Kerstin Kurz, Thomas Carell, Andrea Angius, Michael V G Latronico, Roberto Papait, Gianluigi Condorelli

Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa

KLHL7 中的双等位基因突变导致与早发性视网膜色素变性相关的 Crisponi/CISS1 样表型

Andrea Angius, Paolo Uva, Insa Buers, Manuela Oppo, Alessandro Puddu, Stefano Onano, Ivana Persico, Angela Loi, Loredana Marcia, Wolfgang Höhne, Gianmauro Cuccuru, Giorgio Fotia, Manila Deiana, Mara Marongiu, Hatice Tuba Atalay, Sibel Inan, Osama El Assy, Leo M E Smit, Ilyas Okur, Koray Boduroglu, G

Novel action of FOXL2 as mediator of Col1a2 gene autoregulation

FOXL2 作为 Col1a2 基因自我调节介质的新作用

Mara Marongiu, Manila Deiana, Loredana Marcia, Andrea Sbardellati, Isadora Asunis, Alessandra Meloni, Andrea Angius, Roberto Cusano, Angela Loi, Francesca Crobu, Giorgio Fotia, Francesco Cucca, David Schlessinger, Laura Crisponi

Assessing Mitochondrial DNA Variation and Copy Number in Lymphocytes of ~2,000 Sardinians Using Tailored Sequencing Analysis Tools

利用定制测序分析工具评估约2000名撒丁岛居民淋巴细胞中线粒体DNA的变异和拷贝数

Ding, Jun; Sidore, Carlo; Butler, Thomas J; Wing, Mary Kate; Qian, Yong; Meirelles, Osorio; Busonero, Fabio; Tsoi, Lam C; Maschio, Andrea; Angius, Andrea; Kang, Hyun Min; Nagaraja, Ramaiah; Cucca, Francesco; Abecasis, Gonçalo R; Schlessinger, David

Population genomic analysis of ancient and modern genomes yields new insights into the genetic ancestry of the Tyrolean Iceman and the genetic structure of Europe

对古代和现代基因组的群体基因组分析,为蒂罗尔冰人的遗传祖先和欧洲的遗传结构提供了新的见解。

Sikora, Martin; Carpenter, Meredith L; Moreno-Estrada, Andres; Henn, Brenna M; Underhill, Peter A; Sánchez-Quinto, Federico; Zara, Ilenia; Pitzalis, Maristella; Sidore, Carlo; Busonero, Fabio; Maschio, Andrea; Angius, Andrea; Jones, Chris; Mendoza-Revilla, Javier; Nekhrizov, Georgi; Dimitrova, Diana; Theodossiev, Nikola; Harkins, Timothy T; Keller, Andreas; Maixner, Frank; Zink, Albert; Abecasis, Goncalo; Sanna, Serena; Cucca, Francesco; Bustamante, Carlos D

A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy

一种新的无效纯合突变证实 CACNA2D2 是癫痫性脑病中突变的基因

Tommaso Pippucci, Antonia Parmeggiani, Flavia Palombo, Alessandra Maresca, Andrea Angius, Laura Crisponi, Francesco Cucca, Rocco Liguori, Maria Lucia Valentino, Marco Seri, Valerio Carelli