Urano Fumihiko相关文献与解析，生知库 | 链接生命科学的每一步

日期影响因子

Neurofilament light chain but not glial fibrillary acidic protein serum levels are elevated in Wolfram syndrome

Wolfram综合征患者的神经丝轻链血清水平升高，但胶质纤维酸性蛋白血清水平正常。

期刊:Frontiers in Neuroscience

影响因子:3.2

doi:10.3389/fnins.2026.1805916

Jansen, Matthew J; Lugar, Heather M; Brown, Cris M; Tang, Abby F; Oiknine, Liam J; Chen, Ling; Koller, Jonathan M; Gordon, Brian A; Marshall, Bess A; Urano, Fumihiko; Hershey, Tamara

发表日期：2026

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Evaluating the Use of GLP-1 Receptor Agonists in Wolfram syndrome Patients

评估 GLP-1 受体激动剂在沃尔夫拉姆综合征患者中的应用

doi:10.64898/2026.03.31.26349885

Lee, Laura; Tang, Abby F; Asako, Anna; Ning, Sarah F; Reed, Hayden A; Duncan, Eleanor; Lugar, Heather M; Hoekel, James; Marshall, Bess A; Hershey, Tamara; Urano, Fumihiko

发表日期：2026

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MANF Clears Mutant Uromodulin in Human Kidney Organoids of Autosomal Dominant Tubulointerstitial Kidney Disease

MANF清除常染色体显性遗传性肾小管间质性肾病人类肾脏类器官中的突变尿调蛋白

doi:10.64898/2026.03.02.708095

Gu, Chenjian; Fang, Yili; Wang, Yixuan; Tycksen, Eric; Kondepati, Gayathri; Li, Chuang; Kidd, Kendrah; Liu, Jun; Urano, Fumihiko; Lindahl, Maria; Bleyer, Anthony J; Singamaneni, Srikanth; Sun, Zhao; Chen, Ying Maggie

发表日期：2026

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Epilepsy Phenotypic Spectrum of NUS1-Related Disorder: A Case Series

NUS1相关疾病的癫痫表型谱：病例系列研究

doi:10.1002/cns3.70056

Ahmadi, Saumel; Fulton, Natalie; Morrissey, Michael; Landre, Rebekah; Tomko, Stuart; Urano, Fumihiko; Guerriero, Réjean M

发表日期：2026

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Genotype-Based Severity Scoring System in Wolfram Syndrome: Correlation with Onset of Cardinal Symptoms and WFS1 Gene Variant Types

Wolfram综合征的基因型严重程度评分系统：与主要症状出现和WFS1基因变异类型的相关性

doi:10.64898/2026.03.24.26349216

Oiknine, Liam; Tang, Abby F; Urano, Fumihiko

发表日期：2026

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Synaptic Alterations Are Preceding the Axonal Loss in Optic Atrophy of Wolfram Syndrome Mouse Model.

Wolfram 综合征小鼠模型视神经萎缩中，突触改变先于轴突丢失。

doi:10.64898/2026.03.22.713521

Gurram Venu, An William, Bimal Shrinivas, Urano Fumihiko

发表日期：2026

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European and African ancestry-specific plasma protein-QTL and metabolite-QTL analyses identify ancestry-specific T2D effector proteins and metabolites

欧洲和非洲血统特异性血浆蛋白QTL和代谢物QTL分析可鉴定血统特异性2型糖尿病效应蛋白和代谢物

期刊:Nature Communications

影响因子:15.7

doi:10.1038/s41467-025-62463-w

Yang, Chengran; Gorijala, Priyanka; Timsina, Jigyasha; Wang, Lihua; Liu, Menghan; Wang, Ciyang; Brock, William; Wang, Yueyao; Urano, Fumihiko; Sung, Yun Ju; Cruchaga, Carlos

发表日期：2025

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Extracellular vesicle R-Ras is a potential biomarker for human peripheral artery disease.

细胞外囊泡 R-Ras 是人类外周动脉疾病的潜在生物标志物。

期刊:iScience

影响因子:4.1

doi:10.1016/j.isci.2025.113859

Wei Xiaochao, Zaghloul Mohamed, Hafezi Shahab, Urano Fumihiko, Zayed Mohamed A, Semenkovich Clay F

细胞生物学

发表日期：2025

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Natural history of patients with autosomal dominant WFS1 pathogenic variants associated with sensorineural hearing loss and optic atrophy

与感觉神经性听力损失和视神经萎缩相关的常染色体显性WFS1致病变异患者的自然病程

doi:10.1101/2025.02.23.25322342

Roberts, Jessica P; Tang, Abby F; Hernandez, Daniela; Carman, Brianna; Oiknine, Liam; Brown, Cris; Hurst, Stacy; Urano, Fumihiko

发表日期：2025

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Cystic and Atrophic Kidneys, Atrophic Pancreas, Arcuate Uterus, and Diabetes Mellitus Associated With Deletion of HNF1β Gene

囊性肾萎缩、胰腺萎缩、弓形子宫和糖尿病均与HNF1β基因缺失相关

期刊:AACE Clinical Case Reports

影响因子:1.2

doi:10.1016/j.aace.2023.06.003

Usala, Rachel L; Sobrero, Alberto; Riek, Amy; McGill, Janet; Urano, Fumihiko

发表日期：2024

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