这种双重功能提出了一个有趣的问题,即这种机制是如何进化的,这表明对FOXG1基因剂量的微调可能是为了确保神经系统的正常发育。相关研究结果近期发表在BMC Biology期刊上,论文标题为“Foxg1 regulates translation of neocortical neuronal genes, including the main NMDA receptor subunit gene, Grin1”。 FOXG1基因对于...
这种双重功能提出了一个有趣的问题,即这种机制是如何进化的,这表明对 FOXG1 基因剂量的微调可能是为了确保神经系统的正常发育。相关研究结果近期发表在BMC Biology期刊上,论文标题为“Foxg1 regulates translation of neocortical neuronal genes, including the main NMDA receptor subunit gene, Grin1”。 FOXG1 基...
Two novel pathogenic variants (c.563C > A, p.Ala188Glu and c.653A > G, p.Tyr218Cys) were detected in the FOXG1 gene, associated with congenital Rett syndrome. Moreover, other reported variants were also found in the KIF5A and KMT2D genes. In-silico analysis of FOXG1 variants ...
Since both haploinsufficiency and hyper-expression ofcause diseases in humans, we reasoned that adding a gene under nonnative regulatory sequences would be a risky strategy as opposed to a genome editing approach where the mutated gene is reversed into wild-type. Here, we demonstrate that an ...
Forkhead Box G1 (FOXG1) is a member of the Forkhead family of genes with non-redundant roles in brain development, where alteration of this gene's expression significantly affects the formation and function of the mammalian cerebral cortex. FOXG1 haploinsufficiency in humans is associated with ...
Gene Type protein_coding Uniprot ID P55316 Pathway/Library others Gene Summary This locus encodes a member of the forked-head transcription factor family. The encoded protein, which functions as a repressor, may play a role in brain development. Mutations at this locus have been associated with ...
FOXG1基因新发突变致先天性Rett综合征变异型一例报告
Gene amplification of FOXA2 in pancreatic cancer [118], FOXD3 and FOXJ1 in breast cancer [35], and FOXG1 in hepatoblastoma [119] has been reported. Point mutations of FOXL2 in granulosa-cell ovary tumors [120] as well as point mutations and deletions of FOXP3 in breast and prostate ...
Article: A missense mutation within the fork-head domain of the forkhead box G1 Gene (FOXG1) affects its nuclear localization
A viral gene therapy developed by University at Buffalo researchers has reversed some brain abnormalities in infant mice with FOXG1 syndrome, a significant step toward one day treating children with this severe neurodevelopmental disorder.