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

Retraction Notice to: A BLOC-1 Mutation Screen Reveals that PLDN Is Mutated in Hermansky-Pudlak Syndrome Type 9

撤稿声明:BLOC-1 突变筛查揭示 PLDN 在 Hermansky-Pudlak 综合征 9 型中发生突变

Cullinane, Andrew R; Curry, James A; Carmona-Rivera, Carmelo; Summers, C Gail; Ciccone, Carla; Cardillo, Nicholas D; Dorward, Heidi; Hess, Richard A; White, James G; Adams, David; Huizing, Marjan; Gahl, William A

Non-specific accumulation of glycosphingolipids in GNE myopathy

GNE肌病中糖鞘脂的非特异性积累

Patzel, Katherine A; Yardeni, Tal; Le Poëc-Celic, Erell; Leoyklang, Petcharat; Dorward, Heidi; Alonzi, Dominic S; Kukushkin, Nikolay V; Xu, Bixue; Zhang, Yongmin; Sollogoub, Matthieu; Blériot, Yves; Gahl, William A; Huizing, Marjan; Butters, Terry D

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

Vascular pathology of medial arterial calcifications in NT5E deficiency: implications for the role of adenosine in pseudoxanthoma elasticum

NT5E 缺乏症中动脉中层钙化的血管病理学:腺苷在假性黄瘤中的作用及其意义

Markello, Thomas C; Pak, Laura K; St Hilaire, Cynthia; Dorward, Heidi; Ziegler, Shira G; Chen, Marcus Y; Chaganti, Krishna; Nussbaum, Robert L; Boehm, Manfred; Gahl, William A

OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria

在3-甲基戊二酸尿症III型中发生突变的OPA3基因编码两种主要靶向线粒体的转录本。

Huizing, Marjan; Dorward, Heidi; Ly, Lien; Klootwijk, Enriko; Kleta, Robert; Skovby, Flemming; Pei, Wuhong; Feldman, Benjamin; Gahl, William A; Anikster, Yair

Novel 47.5-kb deletion in RAB27A results in severe Griscelli Syndrome Type 2

RAB27A基因中发现的47.5 kb新缺失导致严重的格里塞利综合征2型。

Vincent, Lisa M; Gilbert, Fred; DiPace, Jennifer I; Ciccone, Carla; Markello, Thomas C; Jeong, Andrew; Dorward, Heidi; Westbroek, Wendy; Gahl, William A; Bussel, James B; Huizing, Marjan

Intravenous immune globulin in hereditary inclusion body myopathy: a pilot study.

静脉注射免疫球蛋白治疗遗传性包涵体肌病:一项初步研究

Sparks Susan, Rakocevic Goran, Joe Galen, Manoli Irini, Shrader Joseph, Harris-Love Michael, Sonies Barbara, Ciccone Carla, Dorward Heidi, Krasnewich Donna, Huizing Marjan, Dalakas Marinos C, Gahl William A

Association of the Hermansky-Pudlak syndrome type-3 protein with clathrin

Hermansky-Pudlak综合征3型蛋白与网格蛋白的关联

Helip-Wooley, Amanda; Westbroek, Wendy; Dorward, Heidi; Mommaas, Mieke; Boissy, Raymond E; Gahl, William A; Huizing, Marjan

Mutation of a conserved hydrophobic patch prevents incorporation of ZP3 into the zona pellucida surrounding mouse eggs

保守疏水区域的突变阻止了ZP3整合到小鼠卵子周围的透明带中。

Zhao, Ming; Gold, Lyn; Dorward, Heidi; Liang, Li-fang; Hoodbhoy, Tanya; Boja, Emily; Fales, Henry M; Dean, Jurrien