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

The mutational landscape and actionable targets of gallbladder cancer: an ancestry-informed and comparative analysis of a Chilean population

胆囊癌的突变图谱和可操作靶点：基于祖源信息的智利人群比较分析

期刊:Frontiers in Oncology
影响因子:3.3
doi:10.3389/fonc.2025.1658528
Erices, José Ignacio; González, Evelin; Salgado, Marcela; Barahona-Ponce, Carol; Freire, Matías; Sepúlveda-Hermosilla, Gonzalo; Ampuero, Diego; Blanco, Alejandro; Gárate-Calderón, Valentina; Báez-Benavides, Pablo; Tapia-Valladares, Camilo; Toro, Jessica; Gallegos, Iván; Barajas, Olga; Ahumada, Mónica; Sanhueza, Verónica; Spencer, Loreto; De Toro, Gonzalo; Morales, Erik; Gutiérrez, Lorena; Morales, Fernanda; Marin, Arnaldo; Varela, Nelson M; Lorenzo Bermejo, Justo; Armisén, Ricardo; Marcelain, Katherine
肿瘤
肿瘤免疫
胆囊癌
发表日期：2025
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Sustained OMA1-mediated integrated stress response is beneficial for spastic ataxia type 5

持续的 OMA1 介导的综合应激反应对 5 型痉挛性共济失调有益

期刊:Brain
影响因子:10.6
doi:10.1093/brain/awad340
Camilla Aurora Franchino, Martina Brughera, Valentina Baderna, Daniele De Ritis, Alessandra Rocco, Sara Seneca, Luc Regal, Paola Podini, Maurizio D'Antonio, Camilo Toro, Angelo Quattrini, Emmanuel Scalais, Francesca Maltecca
信号转导
发表日期：2024
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Gene expression changes in Tay-Sachs disease begin early in fetal brain development

泰-萨克斯病的基因表达变化始于胎儿大脑发育早期

期刊:Journal of Inherited Metabolic Disease
影响因子:4.2
doi:10.1002/jimd.12596
Sangwoo T Han, Ashley Hirt, Elena-Raluca Nicoli, Mari Kono, Camilo Toro, Richard L Proia, Cynthia J Tifft
发育与干细胞
发表日期：2023
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Biallelic variants in two complex I genes cause abnormal splicing defects in probands with mild Leigh syndrome

两种复合体 I 基因的双等位基因变异导致轻度 Leigh 综合征患者出现异常剪接缺陷

期刊:Molecular Genetics and Metabolism
影响因子:3.7
doi:10.1016/j.ymgme.2020.09.008
Thomas Johnstone, Jennifer Wang, Daron Ross, Nicholas Balanda, Yan Huang, Rena Godfrey, Catherine Groden, Brandon R Barton, William Gahl, Camilo Toro, May Christine V Malicdan
信号转导
发表日期：2020
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Conventional and Unconventional Therapeutic Strategies for Sialidosis Type I

唾液酸贮积症 I 型的常规和非常规治疗策略

期刊:Journal of Clinical Medicine
影响因子:3
doi:10.3390/jcm9030695
Rosario Mosca, Diantha van de Vlekkert, Yvan Campos, Leigh E Fremuth, Jaclyn Cadaoas, Vish Koppaka, Emil Kakkis, Cynthia Tifft, Camilo Toro, Simona Allievi, Cinzia Gellera, Laura Canafoglia, Gepke Visser, Ida Annunziata, Alessandra d'Azzo
信号转导
发表日期：2020
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Stump appendicitis, a case report and a review of the literature. Is it as uncommon as it is thought?

残端阑尾炎：病例报告及文献综述。它真的像人们认为的那样罕见吗？

期刊:International Journal of Surgery Case Reports
影响因子:0.7
doi:10.1016/j.ijscr.2020.02.016
Burbano, Daniela; García, Alberto Federico; Chica Yantén, Julián; Salazar, Camilo; Toro, Juan Sebastian; Bravo, Juan Carlos
阑尾炎
发表日期：2020
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yippee like 3 (ypel3) is a novel gene required for myelinating and perineurial glia development

yippee like 3 (ypel3) 是一种髓鞘形成和神经周围胶质细胞发育所需的新基因

期刊:PLoS Genetics
影响因子:
doi:10.1371/journal.pgen.1008841
Bernardo Blanco-Sánchez, Aurélie Clément, Sara J Stednitz, Jennifer Kyle, Judy L Peirce, Marcie McFadden, Jeremy Wegner, Jennifer B Phillips, Ellen Macnamara, Yan Huang, David R Adams, Camilo Toro, William A Gahl, May Christine V Malicdan, Cynthia J Tifft, Erika M Zink, Kent J Bloodsworth, Kelly G S
神经
胶质细胞
发表日期：2020
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Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification

由于新生 CLCN7 变体对溶酶体酸化的影响而导致的溶酶体储存和白化病

期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2019.04.008
Elena-Raluca Nicoli, Mary R Weston, Mary Hackbarth, Alissa Becerril, Austin Larson, Wadih M Zein, Peter R Baker 2nd, John Douglas Burke, Heidi Dorward, Mariska Davids, Yan Huang, David R Adams, Patricia M Zerfas, Dong Chen, Thomas C Markello, Camilo Toro, Tim Wood, Gene Elliott, Mylinh Vu; Undiagnos
信号转导
发表日期：2019
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PARP1 inhibition alleviates injury in ARH3-deficient mice and human cells

PARP1 抑制可减轻 ARH3 缺陷小鼠和人类细胞的损伤

期刊:JCI Insight
影响因子:6.3
doi:10.1172/jci.insight.124519
Masato Mashimo, Xiangning Bu, Kazumasa Aoyama, Jiro Kato, Hiroko Ishiwata-Endo, Linda A Stevens, Atsushi Kasamatsu, Lynne A Wolfe, Camilo Toro, David Adams, Thomas Markello, William A Gahl, Joel Moss
细胞生物学
其它细胞
FCM
IF
IHC-P
WB
Human
AIFM1
发表日期：2019
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Novel mutations in CLN6 cause late-infantile neuronal ceroid lipofuscinosis without visual impairment in two unrelated patients

CLN6 的新突变导致两名无亲缘关系的患者出现晚期婴儿神经元蜡样脂褐素沉积症，且无视力损害

期刊:Molecular Genetics and Metabolism
影响因子:3.7
doi:10.1016/j.ymgme.2018.12.001
Joseph J Chin, Babak Behnam, Mariska Davids, Prashant Sharma, Wadih M Zein, Camille Wang, Xenia Chepa-Lotrea, William Brian Gallantine, Camilo Toro, David R Adams, Cynthia J Tifft, William A Gahl, May Christine V Malicdan
神经
发表日期：2019
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