2019年6月20日 · GRIN1-related neurodevelopmental disorder (GRIN1-NDD) is characterized by mild-to-profound developmental delay / intellectual disability (DD/ID) in all affected individuals. …

2025年3月30日 · GRIN1 (Glutamate Ionotropic Receptor NMDA Type Subunit 1) is a Protein Coding gene. Diseases associated with GRIN1 include Neurodevelopmental Disorder With Or …

2024年2月14日 · GRIN1-related disorder is characterized by mild-to-profound developmental delay / intellectual disability in all affected individuals. Other common manifestations are …

Pathogenic variants (“mutations”) in the GRIN1 gene cause a spectrum of neurodevelopmental disorders that can include childhood-onset epilepsy, developmental delays, movement …

迄今为止，在线人类孟德尔遗传数据库 (Online Mendelian Inheritance In Man，OMIM)已收录了 GRIN1 、 GRIN2A 、 GRIN2B 、 GRIN2D 基因相关的疾病。 基于 GRIN 基因变异的受体功能 …

Glutamate [NMDA] receptor subunit zeta-1 is a protein that in humans is encoded by the GRIN1 gene. [5][6]

由该基因编码的蛋白质是 N-甲基-D-天冬氨酸受体的关键亚基，谷氨酸受体通道超家族的成员是具有多个亚基的异聚蛋白复合物，排列形成配体门控离子通道。 这些亚基在突触的可塑性中起 …

2024年11月20日 · A newborn with GRIN1-related early infantile developmental and epileptic encephalopathy (DEE) with striking pharmacoresistance is described with emphasis on …

Upon the identification of biallelic GRIN1 de novo variants disturbing NMDAR surface density, namely GRIN1-SDD (surface density deficient GRIN1 variants), we investigated the functional …

2022年1月15日 · 研究表明，GRIN1 (-704至+ 188 bp)近侧启动子区区的异常转录调控可能与神经精神疾病的病程有关。 通过鉴定调控基因表达的转录因子，本研究为进一步研究神经精神障 …