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

Pathogenic germline variants in a racially diverse real-world cohort of prostate cancer patients

前列腺癌患者真实世界中不同种族队列的致病性种系变异

Crawford, Taylor B; Tayeb, Maliha; Barrett, Emanuel; Al-Saleem, Tara; Kondam, Pranavi; Hausler, Ryan; Symecko, Heather; Orr, Caitlin; Wolfe, Catherine; Mann, Derek; Spielman, Kelsey; Wong, Gloria; Haas, Naomi; Narayan, Vivek; Robinson, Kyle; Takvorian, Samuel; Wong, Yu-Ning; Sokolova, Alexandra; Montgomery, Robert B; Menendez, Carolyn; Kelley, Michael J; Aiello, Lisa B; Garraway, Isla P; Domchek, Susan M; Maxwell, Kara N

Variation at the R181 residue of p53 confers loss of p53 DNA binding cooperativity with the retention of mitochondrial-associated apoptosis.

p53 R181 残基的变异导致 p53 DNA 结合协同作用丧失,但线粒体相关细胞凋亡仍得以保留

Moses Renyta, Indeglia Alexandra, Levine Alison S, Hausler Ryan, Kelly Gregory, Miller Sven A, Anez Isabel, Heller Melissa, Delgado Rosella, Orr Caitlin, Kohlmann Wendy, Naumer Anne, Vagher Jennie, Cahill Sophie R, Maese Luke D, Karanicolas John, Garber Judy E, Murphy Maureen E, Maxwell Kara N

The Neuropsychiatric Disease-Associated Gene cacna1c Mediates Survival of Young Hippocampal Neurons

神经精神疾病相关基因 cacna1c 介导年轻海马神经元的存活

Anni S Lee, Héctor De Jesús-Cortés, Zeeba D Kabir, Whitney Knobbe, Madeline Orr, Caitlin Burgdorf, Paula Huntington, Latisha McDaniel, Jeremiah K Britt, Franz Hoffmann, Daniel J Brat, Anjali M Rajadhyaksha, Andrew A Pieper

Infection-triggered familial or recurrent cases of acute necrotizing encephalopathy caused by mutations in a component of the nuclear pore, RANBP2

由核孔蛋白RANBP2组分突变引起的感染诱发的家族性或复发性急性坏死性脑病

Neilson, Derek E; Adams, Mark D; Orr, Caitlin M D; Schelling, Deborah K; Eiben, Robert M; Kerr, Douglas S; Anderson, Jane; Bassuk, Alexander G; Bye, Ann M; Childs, Anne-Marie; Clarke, Antonia; Crow, Yanick J; Di Rocco, Maja; Dohna-Schwake, Christian; Dueckers, Gregor; Fasano, Alfonso E; Gika, Artemis D; Gionnis, Dimitris; Gorman, Mark P; Grattan-Smith, Padraic J; Hackenberg, Annette; Kuster, Alice; Lentschig, Markus G; Lopez-Laso, Eduardo; Marco, Elysa J; Mastroyianni, Sotiria; Perrier, Julie; Schmitt-Mechelke, Thomas; Servidei, Serenella; Skardoutsou, Angeliki; Uldall, Peter; van der Knaap, Marjo S; Goglin, Karrie C; Tefft, David L; Aubin, Cristin; de Jager, Philip; Hafler, David; Warman, Matthew L