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

Missense variants in DPYSL5 associated with neurodevelopmental disorders and brain malformations cause impaired neuronal maturation in vitro

DPYSL5基因中的错义变异与神经发育障碍和脑畸形相关,会导致体外神经元成熟受损。

Desprez, Florence; Remize, Solène; François-Moutal, Liberty; Ung, Dévina C; Dangoumau, Audrey; Marouillat, Sylviane; Kennedy, Joanna; Low, Karen J; Kumps, Camille; Unger, Sheila; Keren, Boris; de Sainte Agathe, Jean-Madeleine; Poirsier, Céline; Mirzaa, Ghayda M; Aldinger, Kimberly A; Lesca, Gaetan; Ruault, Valentin; Finnila, Candice R; Kelley, Whitley V; Latner, Donald R; Guptha, Sushma N; Tuttle, Annabelle; Glass, Ian; Chung, Wendy K; Hayek, Jennifer Cassady; Boute, Odile; Moutal, Aubin; Jeanne, Médéric; Laumonnier, Frédéric

The impact of delayed evacuation on the quality of human fetal tissue

延迟清宫对人类胎儿组织质量的影响

Otaibi, Yasmeen; Lee, Kevin; Cort, Lucinda; O'Day, Diana R; Dempsey, Jennifer C; Phelps, Ian G; Micks, Elizabeth; Benson, Lyndsey S; Deng, Mei; Doherty, Dan; Prager, Sarah; Glass, Ian A; Aldinger, Kimberly A

Lecanemab Treatment in a Specialty Memory Clinic

在专业记忆诊所接受Lecanemab治疗

Paczynski, Madeline; Hofmann, Anna; Posey, Zachary; Gregersen, Maren; Rudman, Michelle; Ellington, Dawn; Aldinger, Melissa; Musiek, Erik S; Holtzman, David M; Bateman, Randall J; Long, Justin M; Ghoshal, Nupur; Carr, David B; Dow, Alan; Namazie-Kummer, Sheyda; Jana, Nayid; Xiong, Chengjie; Morris, John C; Benzinger, Tammie L S; Schindler, Suzanne E; Snider, B Joy

Recurrent de novo variants in the spliceosomal factor CRNKL1 are associated with severe microcephaly and pontocerebellar hypoplasia with seizures

剪接体因子 CRNKL1 的复发性新生变异与严重的头小畸形和伴有癫痫发作的脑桥小脑发育不全有关。

Ray Das, Sankalita; Sullivan, Rosie; Ruegg, Mischa S G; Horsfield, Julia; Doran, Jordan; Poke, Gemma; de Vries, Nathalie; Duerinckx, Sarah; Lederer, Damien; Haniffa, Muzhirah; Keng, Wee-Teik; Ch'ng, Gaik-Siew; Parry, David A; Jackson, Andrew P; Sakamoto, Masamune; Matsumoto, Naomichi; Miyake, Noriko; Nabatame, Shin; Taniguchi, Hidetoshi; Wakeling, Emma; Õunap, Katrin; Ilves, Pilvi; Mirzaa, Ghayda; Timms, Andrew; Pao, Emily; Aldinger, Kimberly A; Dobyns, William; Bohring, Axel; Behre, Beate; Calame, Daniel G; Lupski, James R; Pascual, Juan M; Abramowicz, Marc; Gimenez, Gregory; Bicknell, Louise S

Differentiation latency and dormancy signatures define fetal liver hematopoietic stem cells at single-cell resolution

分化潜伏期和休眠特征在单细胞分辨率下定义了胎肝造血干细胞。

Takashi Ishida ,Juliane Mercoli ,Adam M Heck ,Ian Phelps ,Barbara Varnum-Finney ,Stacey Dozono ,Cynthia Nourigat-McKay ,Katie Kraskouskas ,Rachel Wellington ,Olivia Waltner ,Dana L Jackson ,Colleen Delaney ,Shahin Rafii ,Irwin D Bernstein ,Kimberly A Aldinger , ,Helong G Zhao ,Brandon Hadland

A group 3 medulloblastoma stem cell program is maintained by OTX2-mediated alternative splicing

第 3 组髓母细胞瘤干细胞程序由 OTX2 介导的可变剪接维持

Olivier Saulnier #, Jamie Zagozewski #, Lisa Liang #, Liam D Hendrikse #, Paul Layug, Victor Gordon, Kimberly A Aldinger, Parthiv Haldipur, Stephanie Borlase, Ludivine Coudière-Morrison, Ting Cai, Emma Martell, Naomi M Gonzales, Gareth Palidwor, Christopher J Porter, Stéphane Richard, Tanveer Sharif

High iASPP (PPP1R13L) expression is an independent predictor of adverse clinical outcome in acute myeloid leukemia (AML)

高 iASPP(PPP1R13L)表达是急性髓系白血病(AML)不良临床结果的独立预测因素

Mihada Bajrami Saipi #, Alessia Ruiba #, Marcus Matthias Schittenhelm #, Gunnar Blumenstock, Balázs Győrffy, Serena Fazio, Marlon Hafner, Anna-Lena Ahrens, Lara Aldinger, Vanessa Aellig, François G Kavelaars, César Nombela-Arrieta, Falko Fend, Peter J M Valk, Driessen Christoph, Kerstin Maria Kampa-

Chronic intermittent hypoxia elicits distinct transcriptomic responses among neurons and oligodendrocytes within the brainstem of mice.

慢性间歇性缺氧可引起小鼠脑干内神经元和少突胶质细胞发生不同的转录组反应

Bhagavan Hemalatha, Wei Aguan D, Oliveira Luiz M, Aldinger Kimberly A, Ramirez Jan-Marino

Dandy-Walker Phenotype with Brainstem Involvement: 2 Distinct Subgroups with Different Prognosis

伴有脑干受累的丹迪-沃克表型:预后不同的两个亚组

Alves, C A P F; Sidpra, J; Manteghinejad, A; Sudhakar, S; Massey, F V; Aldinger, K A; Haldipur, P; Lucato, L T; Ferraciolli, S F; Teixeira, S R; Öztekin, Ö; Bhattacharya, D; Taranath, A; Prabhu, S P; Mirsky, D M; Andronikou, S; Millen, K J; Barkovich, A J; Boltshauser, E; Dobyns, W B; Barkovich, M J; Whitehead, M T; Mankad, K

Generation of advanced cerebellar organoids for neurogenesis and neuronal network development

生成先进的小脑类器官以促进神经发生和神经元网络发育

Ya Chen, Luke A Bury, Fu Chen, Kimberly A Aldinger, Helen C Miranda, Anthony Wynshaw-Boris