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

l-2-Hydroxyglutarate impairs neuronal differentiation through epigenetic activation of MYC expression

2-羟基戊二酸通过表观遗传激活MYC表达来损害神经元分化。

Gu, Wen; Wang, Xun; Solmonson, Ashley; Cai, Ling; Xiao, Yi; Tasdogan, Alpaslan; Franklin, Jordan; Zhang, Yuannyu; Zhang, Hua; Westfall, Aundrea K; Rowe, Ashley; Trivedi, Hetali; Faubert, Brandon; Wu, Zheng; Sudderth, Jessica; Zacharias, Lauren G; Afroze, Bushra; Bezprozvanny, Ilya; Sudarshan, Sunil; Cai, Feng; McBrayer, Samuel K; Mathews, Thomas P; DeBerardinis, Ralph J

L-2-hydroxyglutarate impairs neuronal differentiation through epigenetic activation of MYC expression.

L-2-羟基戊二酸通过表观遗传激活MYC表达来损害神经元分化

Gu Wen, Wang Xun, Solmonson Ashley, Cai Ling, Xiao Yi, Tasdogan Alpaslan, Franklin Jordan, Zhang Yuannyu, Zhang Hua, Westfall Aundrea K, Rowe Ashley, Trivedi Hetali, Faubert Brandon, Wu Zheng, Sudderth Jessica, Zacharias Lauren G, Afroze Bushra, Bezprozvanny Ilya, Sudarshan Sunil, Cai Feng, McBrayer Samuel K, Mathews Thomas P, DeBerardinis Ralph J

Experience in prenatal genetic testing and reproductive decision-making for monogenic disorders from a single tertiary care genetics clinic in a low-middle income country

在低中等收入国家的一家三级遗传诊所,我积累了单基因疾病产前基因检测和生育决策方面的经验。

Hanif, Amna; Akbar, Fizza; Kirmani, Salman; Jaffarali, Amyna; Zainab, Ghulam; Malik, Ayesha; Ansar, Zeeshan; Afroze, Bushra

L-2-hydroxyglutaric aciduria - review of literature and case series

L-2-羟基戊二酸尿症——文献综述及病例系列

Ahmed, Sibtain; Siddiqui, Ayra; DeBerardinis, Ralph J; Ni, Min; Gu Lai, Wen; Cai, Feng; Vu, Hieu S; Afroze, Bushra

An interactive web application for exploring human plasma and fibroblast metabolomics data from patients with inborn errors of metabolism

一个用于探索先天性代谢缺陷患者血浆和成纤维细胞代谢组学数据的交互式网络应用程序

Cai, Ling; Vu, Hieu S; Gu, Wen; Chen, Hongli; Franklin, Jordan; Haidar, Lea Abou; Wu, Zheng; Pan, Chunxiao; Cai, Feng; Nguyen, Phong; Ko, Bookyung; Yang, Chendong; Zacharias, Lauren G; Sudderth, Jessica; Montgomery, Sarah; Uhles, Crescenda; Fisher, Heather; Hudnall, Julianna; Hornbuckle, Callie; Quinn, Christine; Michel, Donnice; Umaña, Luis; Scheuerle, Angela; McNutt, Markey C; Gotway, Garrett K; Afroze, Bushra; Ni, Min; DeBerardinis, Ralph

PIGG variant pathogenicity assessment reveals characteristic features within 19 families

PIGG变异致病性评估揭示了19个家族的特征。

Tremblay-Laganière, Camille; Maroofian, Reza; Nguyen, Thi Tuyet Mai; Karimiani, Ehsan Ghayoor; Kirmani, Salman; Akbar, Fizza; Ibrahim, Shahnaz; Afroze, Bushra; Doosti, Mohammad; Ashrafzadeh, Farah; Babaei, Meisam; Efthymiou, Stephanie; Christoforou, Marilena; Sultan, Tipu; Ladda, Roger L; McLaughlin, Heather M; Truty, Rebecca; Mahida, Sonal; Cohen, Julie S; Baranano, Kristin; Ismail, Fatima Y; Patel, Millan S; Lehman, Anna; Edmondson, Andrew C; Nagy, Amanda; Walker, Melissa A; Mercimek-Andrews, Saadet; Maki, Yuta; Sachdev, Rani; Macintosh, Rebecca; Palmer, Elizabeth E; Mancini, Grazia M S; Barakat, Tahsin Stefan; Steinfeld, Robert; Rüsch, Christina T; Stettner, Georg M; Wagner, Matias; Wortmann, Saskia B; Kini, Usha; Brady, Angela F; Stals, Karen L; Ismayilova, Naila; Ellard, Sian; Bernardo, Danilo; Nugent, Kimberly; McLean, Scott D; Antonarakis, Stylianos E; Houlden, Henry; Kinoshita, Taroh; Campeau, Philippe M; Murakami, Yoshiko

Is diagnosing patients with Organic Acidurias and Aminoacidopathies enough? Conundrums of a low middle-income country

仅仅诊断患者患有有机酸尿症和氨基酸代谢紊乱症就足够了吗?中低收入国家面临的难题

Majid, Hafsa; Jafri, Lena; Ali, Zeba Zulfiqar; Afroze, Bushra

Musculoskeletal manifestations in Alkaptonuria: A cross-sectional study

尿黑酸症的肌肉骨骼表现:一项横断面研究

Khan, Aysha Habib; Afroze, Bushra; Majid, Hafsa; Zaidi, Yusra; Jamil, Azeema; Jafri, Lena

Glycogen storage diseases-time to flip the outdated diagnostic approach centered on liver biopsy with the molecular testing

糖原贮积症——是时候摒弃以肝活检为中心的过时诊断方法,转而采用分子检测了。

Ahmed, Sibtain; Afroze, Bushra

Vitamin B6-dependent epilepsy due to pyridoxal phosphate-binding protein (PLPBP) defect - First case report from Pakistan and review of literature

维生素B6依赖性癫痫,由磷酸吡哆醛结合蛋白(PLPBP)缺陷引起——巴基斯坦首例病例报告及文献综述

Ahmed, Sibtain; DeBerardinis, Ralph J; Ni, Min; Afroze, Bushra