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

Predisposition to hematopoietic malignancies by deleterious germline CHEK2 variants

有害的生殖系CHEK2变异导致血液系统恶性肿瘤的易感性

Stubbins, Ryan J; Arnovitz, Stephen; Vagher, Jennie; Asom, Anase; Perpich, Melody; Pies, Madeline; Akpan, Imo J; Chew, Edward; Bridgers, Joshua; Karsan, Aly; Rodgers, Courtnee; Koppayi, Ashwin; Basdag, Hatice; Drazer, Michael W; Das, Soma; Cheng, Jason; Osman, Afaf E G; Godley, Lucy A

Identification of 2 novel noncoding variants in patients with Diamond-Blackfan anemia syndrome by whole genome sequencing

通过全基因组测序在Diamond-Blackfan贫血综合征患者中鉴定出2个新的非编码变异

Wen, Ting; Boyden, Steven E; Hocutt, Caleb M; Lewis, Robert G; Baldwin, Erin E; Vagher, Jennie; Andrews, Ashley; Nicholas, Thomas J; Chapin, Alexander; Fan, Elaine M; Botto, Lorenzo D; Bayrak-Toydemir, Pinar; Mao, Rong; Meznarich, Jessica A

UDP-glucose regulates dendritic cell mitochondrial respiration via a nitric oxide-dependent mechanism

UDP-葡萄糖通过一氧化氮依赖性机制调节树突状细胞线粒体呼吸作用。

Bay Vagher ,Soyeon K Gullickson ,Julia P Snyder ,Tyler Hogan ,Roxana Del Rio-Guerra ,Keke C Fairfax ,Eyal Amiel

Parental perspectives on the use of tumor molecular profiling and germline genetic testing during their children's cancer treatment

父母对儿童癌症治疗期间使用肿瘤分子谱分析和生殖系基因检测的看法

Sleiman, Marcelo M Jr; Statman, Muriel R; Yockel, Mary Rose; Wu, Yelena P; Hamilton, Jada G; Kohlmann, Wendy K; Vagher, Jennie; Feola, Soren; Maese, Luke D; Chen, Jing; Appel, Burton; Mehrhoff, Casey J; Peshkin, Beth N; Kadan-Lottick, Nina S; Kupfer, Gary M; Tercyak, Kenneth P

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

Detection of nitric oxide-mediated metabolic effects using real-time extracellular flux analysis

利用实时细胞外通量分析检测一氧化氮介导的代谢效应

Bay Vagher ,Eyal Amiel

Newborn Screening for Li-Fraumeni Syndrome: Patient Perspectives

新生儿李-弗劳梅尼综合征筛查:患者视角

Beigh, Makenna; Vagher, Jennie; Codden, Rachel; Maese, Luke D; Cook, Sabina; Gammon, Amanda

Divergent Genetic Regulation of Nitric Oxide Production between C57BL/6J and Wild-Derived PWD/PhJ Mice Controls Postactivation Mitochondrial Metabolism, Cell Survival, and Bacterial Resistance in Dendritic Cells

C57BL/6J 小鼠和野生型 PWD/PhJ 小鼠之间一氧化氮产生的遗传调控差异控制着树突状细胞的线粒体激活后代谢、细胞存活和细菌抵抗力。

Julia P Snyder ,Soyeon K Gullickson ,Roxana Del Rio-Guerra ,Andrea Sweezy ,Bay Vagher ,Tyler C Hogan ,Karolyn G Lahue ,Julie A Reisz ,Angelo D'Alessandro ,Dimitry N Krementsov ,Eyal Amiel

Non-Melanoma Skin Cancers and Other Cutaneous Manifestations in Bone Marrow Failure Syndromes and Rare DNA Repair Disorders

骨髓衰竭综合征和罕见DNA修复障碍中的非黑色素瘤皮肤癌和其他皮肤表现

Vagher, Jennie; Gammon, Amanda; Kohlmann, Wendy; Jeter, Joanne

Rare variant in the fumarate hydratase gene found in patients with clinical features of hereditary leiomyomatosis and renal cell cancer (HLRCC): A case series

在具有遗传性平滑肌瘤病和肾细胞癌(HLRCC)临床特征的患者中发现的富马酸水合酶基因罕见变异:病例系列

Franke, Keith; Vagher, Jennie; Boyle, Julie; Hall, April; Smith-Simmer, Kelcy