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

Generation and characterization of two iPSC lines derived from subjects with Free Sialic Acid Storage Disorder (FSASD)

生成并鉴定源自游离唾液酸贮积症(FSASD)患者的两种iPSC细胞系

Marya S Sabir ,Petcharat Leoyklang ,Mary E Hackbarth ,Evgenia Pak ,Amalia Dutra ,Richard Tait ,Laura Pollard ,David R Adams ,William A Gahl ,Marjan Huizing ,May Christine V Malicdan

Clinical and molecular phenotyping of a child with Hermansky-Pudlak syndrome-7, an uncommon genetic type of HPS

一名患有 Hermansky-Pudlak 综合征-7(一种罕见的 HPS 遗传类型)的儿童的临床和分子表型分析

Melanie M Bryan, Nathanial J Tolman, Karen L Simon, Marjan Huizing, Robert B Hufnagel, Brian P Brooks, Vladislav Speransky, James C Mullikin, William A Gahl, May Christine V Malicdan, Bernadette R Gochuico

New observation of sialuria prompts detection of liver tumor in previously reported patient

对唾液尿的新观察提示在先前报告的患者中发现肝肿瘤

Neena L Champaigne, Jules G Leroy, Priya S Kishnani, Jochen Decaestecker, Edwin Steenkiste, Alka Chaubey, Jiarui Li, Chris Verslype, Jo Van Dorpe, Laura Pollard, Jennifer L Goldstein, Louis Libbrecht, Monica Basehore, Nansheng Chen, Heping Hu, Tim Wood, Michael J Friez, Marjan Huizing, Roger E Steve

Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors

扩展 PIGT-CDG(一种糖基磷脂酰肌醇锚定障碍)的临床和分子特征

Christina Lam, Gretchen A Golas, Mariska Davids, Marjan Huizing, Megan S Kane, Donna M Krasnewich, May Christine V Malicdan, David R Adams, Thomas C Markello, Wadih M Zein, Andrea L Gropman, Maya B Lodish, Constantine A Stratakis, Irina Maric, Sergio D Rosenzweig, Eva H Baker, Carlos R Ferreira, Noe

In vitro functional correction of Hermansky-Pudlak Syndrome type-1 by lentiviral-mediated gene transfer

慢病毒介导的基因转移对 Hermansky-Pudlak 综合征 1 型进行体外功能矫正

Yasuhiro Ikawa, Richard Hess, Heidi Dorward, Andrew R Cullinane, Marjan Huizing, Bernadette R Gochuico, William A Gahl, Fabio Candotti

Dysregulation of galectin-3. Implications for Hermansky-Pudlak syndrome pulmonary fibrosis

半乳糖凝集素-3失调。对赫尔曼斯基-普德拉克综合征肺纤维化的影响

Andrew R Cullinane, Caroline Yeager, Heidi Dorward, Carmelo Carmona-Rivera, Hai Ping Wu, Joel Moss, Kevin J O'Brien, Steven D Nathan, Keith C Meyer, Ivan O Rosas, Amanda Helip-Wooley, Marjan Huizing, William A Gahl, Bernadette R Gochuico

Sialylation of Thomsen-Friedenreich antigen is a noninvasive blood-based biomarker for GNE myopathy

Thomsen-Friedenreich 抗原的唾液酸化是 GNE 肌病的一种非侵入性血液生物标志物

Petcharat Leoyklang, May Christine Malicdan, Tal Yardeni, Frank Celeste, Carla Ciccone, Xueli Li, Rong Jiang, William A Gahl, Nuria Carrillo-Carrasco, Miao He, Marjan Huizing

Disorders with similar clinical phenotypes reveal underlying genetic interaction: SATB2 acts as an activator of the UPF3B gene

具有相似临床表型的疾病揭示了潜在的遗传相互作用:SATB2 充当 UPF3B 基因的激活剂

Petcharat Leoyklang, Kanya Suphapeetiporn, Chalurmpon Srichomthong, Siraprapa Tongkobpetch, Stefanie Fietze, Heidi Dorward, Andrew R Cullinane, William A Gahl, Marjan Huizing, Vorasuk Shotelersuk

The Gne M712T mouse as a model for human glomerulopathy

Gne M712T 小鼠作为人类肾小球病的模型

Sravan Kakani, Tal Yardeni, Justin Poling, Carla Ciccone, Terren Niethamer, Enriko D Klootwijk, Irini Manoli, Daniel Darvish, Shelley Hoogstraten-Miller, Patricia Zerfas, E Tian, Kelly G Ten Hagen, Jeffrey B Kopp, William A Gahl, Marjan Huizing

A BLOC-1 mutation screen reveals a novel BLOC1S3 mutation in Hermansky-Pudlak Syndrome type 8

BLOC-1 突变筛查揭示了 Hermansky-Pudlak 综合征 8 型中的一种新型 BLOC1S3 突变

Andrew R Cullinane, James A Curry, Gretchen Golas, James Pan, Carmelo Carmona-Rivera, Richard A Hess, James G White, Marjan Huizing, William A Gahl