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H

Hugo J. Bellen

baylor college of medicine
H指数:117
被引数:4.7万

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Resolving SLC6A1 variable expressivity with deep clinical phenotyping and Drosophila models

通过深度临床表型分析和果蝇模型解析SLC6A1基因的表型可变性

2025-10-310
OAAI
Revealing the nervous system requirements of Alzheimer disease risk genes in Drosophila

揭示果蝇中阿尔茨海默病风险基因的神经系统需求

2025-10-290
OAAI
APOA1 binding protein promotes lymphatic cell fate and lymphangiogenesis by relieving caveolae-mediated inhibition of VEGFR3 signaling

APOA1结合蛋白通过缓解小凹介导的对VEGFR3信号的抑制,促进淋巴细胞的细胞命运和淋巴管生成。

2025-10-210
OAAI
PICALM Alzheimer’s risk allele causes aberrant lipid droplets in microglia

PICALM阿尔茨海默症风险等位基因导致小胶质细胞中脂滴异常

Nature
IF48.5
2025-09-030
OAAI
Alzheimer's disease protective allele of Clusterin modulates neuronal excitability through lipid-droplet-mediated neuron-glia communication

载脂蛋白E基因簇蛋白的保护性等位基因通过脂滴介导的神经元-胶质细胞通讯调节神经元兴奋性。

2025-05-030
OA
De novo and inherited variants in DDX39B cause a novel neurodevelopmental syndrome

De Novo and Inherited Variants in DDX39B Cause a Novel Neurodevelopmental Syndrome

BRAIN
IF11.7
2025-05-013
PRE
Homozygous missense variants in YKT6 result in loss of function and are associated with developmental delay, with or without severe infantile liver disease and risk for hepatocellular carcinoma
2024-07-010
PRE
OXR1 maintains the retromer to delay brain aging under dietary restriction
2024-01-111
OAAI
Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies
2023-11-012
OAAI