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

Development of a radiographic vertebral severity score for evaluation of disease progression in alkaptonuria

开发用于评估尿黑酸症疾病进展的放射学椎体严重程度评分

Rossignol, Francis; Pan, Kristen S; Perry, Monique B; Bryant, Joy C; O'Brien, Kevin J; Castillo, Irene J; Spears, Kathryn R; Ferreira, Carlos R; Murphey, Mark D; Minn, Matthew J; Gahl, William A; Introne, Wendy J

Impairment of Renal Function in Hermansky-Pudlak Syndrome

Hermansky-Pudlak综合征的肾功能损害

Yokoyama, Tadafumi; O'Brien, Kevin J; Franklin, Tesiya M; Zuo, Ben Long G; Zuo, Mei Xing G; Merideth, Melissa A; Introne, Wendy J; Gochuico, Bernadette R

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

Diffusion tensor imaging in Chediak Higashi Disease

Chediak-Higashi 病中的弥散张量成像

Lewis, Connor J; Chipman, Selby I; Tifft, Cynthia J; Toro, Camilo; Gahl, William A; Acosta, Maria T; Introne, Wendy J

Efficacy of T-cell assays for the diagnosis of primary defects in cytotoxic lymphocyte exocytosis

T细胞检测在诊断细胞毒性淋巴细胞胞吐原发性缺陷中的有效性

Chiang, Samuel C C; Covill, Laura E; Tesi, Bianca; Campbell, Tessa M; Schlums, Heinrich; Nejati-Zendegani, Jelve; Mördrup, Karina; Wood, Stephanie; Theorell, Jakob; Sekine, Takuya; Al-Herz, Waleed; Akar, Himmet Haluk; Belen, Fatma Burcu; Chan, Mei Yoke; Devecioglu, Omer; Aksu, Tekin; Ifversen, Marianne; Malinowska, Iwona; Sabel, Magnus; Unal, Ekrem; Unal, Sule; Introne, Wendy J; Krzewski, Konrad; Gilmour, Kimberly C; Ehl, Stephan; Ljunggren, Hans-Gustaf; Nordenskjöld, Magnus; Horne, AnnaCarin; Henter, Jan-Inge; Meeths, Marie; Bryceson, Yenan T

Role of lysosomal trafficking regulator in autophagic lysosome reformation in neurons: a disease perspective

溶酶体运输调节因子在神经元自噬溶酶体重塑中的作用:疾病视角

Sharma, Prashant; Serra-Vinardell, Jenny; Introne, Wendy J; Malicdan, May Christine V

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

Biallelic germline DDX41 variants in a patient with bone dysplasia, ichthyosis, and dysmorphic features.

患有骨发育不良、鱼鳞病和畸形特征的患者携带双等位基因生殖系 DDX41 变异

Sharma Prashant, McFadden Jason R, Frost F Graeme, Markello Thomas C, Grange Dorothy K, Introne Wendy J, Gahl William A, Malicdan May Christine V

Chedíak-Higashi Syndrome: Hair-to-toe spectrum

切迪亚克-希加西综合征:从头发到脚趾的谱系

Greene, Sunny; Soldatos, Ariane; Toro, Camilo; Zein, Wadih M; Snow, Joseph; Lehky, Tanya J; Malicdan, May Christine V; Introne, Wendy J