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

Insights into the renal pathophysiology in Hermansky-Pudlak syndrome-1 from urinary extracellular vesicle proteomics and a new mouse model.

通过尿液细胞外囊泡蛋白质组学和新的小鼠模型,深入了解 Hermansky-Pudlak 综合征-1 的肾脏病理生理学

Maynard Dawn M, Gochuico Bernadette R, Pri Chen Hadass, Bleck Christopher K E, Zerfas Patricia M, Introne Wendy J, Gahl William A, Malicdan May C V

Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency

KIAA0753基因突变会导致Joubert综合征,并伴有生长激素缺乏症。

Stephen, Joshi; Vilboux, Thierry; Mian, Luhe; Kuptanon, Chulaluck; Sinclair, Courtney M; Yildirimli, Deniz; Maynard, Dawn M; Bryant, Joy; Fischer, Roxanne; Vemulapalli, Meghana; Mullikin, James C; Huizing, Marjan; Gahl, William A; Malicdan, May Christine V; Gunay-Aygun, Meral

NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules

NBEAL2基因在灰血小板综合征中发生突变,并且是血小板α颗粒生物合成所必需的。

Gunay-Aygun, Meral; Falik-Zaccai, Tzipora C; Vilboux, Thierry; Zivony-Elboum, Yifat; Gumruk, Fatma; Cetin, Mualla; Khayat, Morad; Boerkoel, Cornelius F; Kfir, Nehama; Huang, Yan; Maynard, Dawn; Dorward, Heidi; Berger, Katherine; Kleta, Robert; Anikster, Yair; Arat, Mutlu; Freiberg, Andrew S; Kehrel, Beate E; Jurk, Kerstin; Cruz, Pedro; Mullikin, Jim C; White, James G; Huizing, Marjan; Gahl, William A

Chediak-Higashi syndrome with early developmental delay resulting from paternal heterodisomy of chromosome 1

切迪亚克-希加西综合征伴早期发育迟缓,由1号染色体父系异二体引起

Manoli, Irini; Golas, Gretchen; Westbroek, Wendy; Vilboux, Thierry; Markello, Thomas C; Introne, Wendy; Maynard, Dawn; Pederson, Ben; Tsilou, Ekaterini; Jordan, Michael B; Hart, P Suzanne; White, James G; Gahl, William A; Huizing, Marjan