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

A murine model lacking Lyst recapitulates Chediak-Higashi syndrome with an earlier-onset neurodegenerative phenotype.

缺乏 Lyst 的小鼠模型重现了 Chediak-Higashi 综合征,并表现出更早发病的神经退行性表型

Greene Sunny, Talbert Mackenzie L, Frost F Graeme, Zerfas Patricia M, Springer Danielle, Noguchi Audrey, Morimoto Marie, Maynard Dawn, Garrett Lisa, Elliot Gene, Traver Maria, Yarnell David, Leoyklang Petcharat, Burke John D, Nicoli Elena-Raluca, Gahl William A, Introne Wendy J, Malicdan May Christine V

Loss of the endoplasmic reticulum protein Tmem208 affects cell polarity, development, and viability

内质网蛋白Tmem208的缺失会影响细胞极性、发育和存活率。

Dutta, Debdeep; Kanca, Oguz; Shridharan, Rishi V; Marcogliese, Paul C; Steger, Benjamin; Morimoto, Marie; Frost, F Graeme; Macnamara, Ellen; Wangler, Michael F; Yamamoto, Shinya; Jenny, Andreas; Adams, David; Malicdan, May C; Bellen, Hugo J

Spectrum of LYST mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature

Chediak-Higashi综合征中LYST基因突变谱:新变异体的报告及文献综述

Morimoto, Marie; Nicoli, Elena-Raluca; Kuptanon, Chulaluck; Roney, Joseph C; Serra-Vinardell, Jenny; Sharma, Prashant; Adams, David R; Gallin, John I; Holland, Steven M; Rosenzweig, Sergio D; Barbot, Jose; Ciccone, Carla; Huizing, Marjan; Toro, Camilo; Gahl, William A; Introne, Wendy J; Malicdan, May Christine V

Chediak-Higashi syndrome: a review of the past, present, and future

切迪亚克-希加西综合征:过去、现在和未来的回顾

Sharma, Prashant; Nicoli, Elena-Raluca; Serra-Vinardell, Jenny; Morimoto, Marie; Toro, Camilo; Malicdan, May Christine V; Introne, Wendy J

Increased Wnt and Notch signaling: a clue to the renal disease in Schimke immuno-osseous dysplasia?

Wnt 和 Notch 信号增强:这是 Schimke 免疫骨发育不良肾脏疾病的线索吗?

Morimoto, Marie; Myung, Clara; Beirnes, Kimberly; Choi, Kunho; Asakura, Yumi; Bokenkamp, Arend; Bonneau, Dominique; Brugnara, Milena; Charrow, Joel; Colin, Estelle; Davis, Amira; Deschenes, Georges; Gentile, Mattia; Giordano, Mario; Gormley, Andrew K; Govender, Rajeshree; Joseph, Mark; Keller, Kory; Lerut, Evelyne; Levtchenko, Elena; Massella, Laura; Mayfield, Christy; Najafian, Behzad; Parham, David; Spranger, Jurgen; Stenzel, Peter; Yis, Uluc; Yu, Zhongxin; Zonana, Jonathan; Hendson, Glenda; Boerkoel, Cornelius F

Penetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expression.

双等位基因 SMARCAL1 突变的穿透率与基因表达的环境和遗传紊乱有关

Baradaran-Heravi Alireza, Cho Kyoung Sang, Tolhuis Bas, Sanyal Mrinmoy, Morozova Olena, Morimoto Marie, Elizondo Leah I, Bridgewater Darren, Lubieniecka Joanna, Beirnes Kimberly, Myung Clara, Leung Danny, Fam Hok Khim, Choi Kunho, Huang Yan, Dionis Kira Y, Zonana Jonathan, Keller Kory, Stenzel Peter, Mayfield Christy, Lücke Thomas, Bokenkamp Arend, Marra Marco A, van Lohuizen Maarten, Lewis David B, Shaw Chad, Boerkoel Cornelius F