Recombinant Human Forkhead box protein G1 (FOXG1)

1. Loss of regulatory elements within the refined critical region is the main cause of the FOXG1 syndrome in patients with structural rearrangements associated with long-range position effects. PMID: 29289958
2. Patients with FOXG1 syndrome/congenital variant of Rett syndrome associated with pathogenic and likely pathogenic variants in the forkhead box G1 gene indicates substantial variability in overall severity of the phenotype. PMID: 28661489
3. We report three cases of FOXG1-related syndrome...with three different underlying genotypes (14q12 deletion including the FOXG1 gene, FOXG1 intragenic mutation, 14q12 deletion including PRKD1 and a region regulating FOXG1 expression) PMID: 29396177
4. A novel missense mutation was identified in FOXG1 on gene analysis (c. 569T>A, p. Ile190Asn). The patient showed not only the typical cerebral abnormalities of a congenital variant of Rett syndrome , but also a hypoplastic hippocampus. This novel mutation and cerebral findings may provide new insights into the pathophysiology of the congenital variant of Rett syndrome PMID: 28781028
5. The genetic etiology of Rett syndrome (RTT) without MECP2, CDKL5, and FOXG1 mutations is heterogeneous, overlaps with other NDDs, and complicated by a high mutation burden. Dysregulation of chromatin structure and abnormal excitatory synaptic signaling may form two common pathological bases of RTT. PMID: 27171548
6. FOXG1 and SOX2 operate in complementary but distinct roles to fuel unconstrained self-renewal in Glioblastoma multiforme stem cells via transcriptional control of core cell cycle and epigenetic regulators. PMID: 28465359
7. phenotypes associated with FOXG1 mutations in Chinese Rett syndrome or Rett syndrome-like patients. PMID: 28851325
8. describe the initial design and characterizations of novel covalent BH3-based agents that potently target Bfl-1 PMID: 28026162
9. findings demonstrate clear phenotype differences between FOXG1 and MECP2 disorders. PMID: 27640358
10. Abnormal involuntary movements are a major feature of FOXG1 mutations. Our study delineates the spectrum of movement disorders and confirms an expanding clinical phenotype. Symptomatic treatment may be considered for severe or disabling cases, although further research regarding potential treatment strategies is necessary. PMID: 27029630
11. Report demonstrates the functional consequences of Foxg1 haploinsufficiency in the visual system of Foxg1+/Cre mice and a visual impairment in a cohort of Rett individuals presenting genetic alteration on FOXG1 PMID: 27001178
12. Upregulated miR-200b in cervical cancer was proven to show positive regulation on cervical cancer development by directly targeting FoxG1. PMID: 27044840
13. Rett syndrome with early epilepsy and the congenital variant are mainly due to variations in the CDKL5 and FOXG1 genes, respectively PMID: 26239053
14. FOXG1 mutations are associated with familial recurrence in FOXG1-related disorders. PMID: 26364767
15. these results implicate the overexpression of a group of neuropeptides in the basal ganglia, hypothalamus, cortex and hippocampus in the pathogenesis FOXG1 behavioral impairments. PMID: 25966633
16. These findings suggest a central AKT-FOXG1-reelin signaling pathway in focal malformations of cortical development and support pathway inhibitors as potential treatments or therapies for some forms of focal epilepsy. PMID: 26523971
17. We propose that the disruption of signaling pathways that promote mature neuronal differentiation by overexpressed FOXG1 is a contributing event in the neoplastic transformation of cerebellar stem cells. PMID: 26433703
18. EGFR mutations remodel the activated enhancer landscape of glioblastoma multiforme, promoting tumorigenesis through a SOX9 and FOXG1-dependent transcriptional regulatory network in vitro and in vivo. PMID: 26455392
19. Data suggest that a shift toward GABAergic neuron fate caused by FOXG1 is a developmental precursor of autism spectrum disorder. PMID: 26186191
20. The neurological phenotype of FOXG1 haploinsufficiency shows the features of a dyskinetic encephalopathy of infancy. PMID: 25565401
21. critical role in the regulation of hepatocellular carcinoma development PMID: 25251503
22. Genotype-phenotype studies of FOXG1 may help to elucidate why children develop different forms of developmental epilepsy. PMID: 24836831
23. Reduced FOXG1 levels in patients' platelets having translocations or deletions in that region. PMID: 23632790
24. transcriptional programmes regulated by FOXG1 and Groucho/TLE are important for BTIC-initiated brain tumour growth, implicating FOXG1 and Groucho/TLE in GBM tumourigenesis PMID: 24356439
25. Our data and review of previous reports highlight dysregulation of FOXG1 pathway as the cause of the "FOXG1 syndrome" developmental disorder PMID: 23956198
26. Its mutation causes Rett syndrome.(review) PMID: 24738188
27. Authors assessed the functional relevance of two genes, FoxG1 and Bmi1, which were significantly enriched in non-Shh/Wnt MBs and showed these genes to mediate MB stem cell self-renewal and tumor initiation in mice. PMID: 23592496
28. FoxG1 can function as a pro-apoptotic factor in part through suppression of AIB1 coactivator transcription complex formation, thereby reducing the expression of the AIB1 oncogene. PMID: 23660594
29. 14q12 microdeletions excluding FOXG1, but leading to its misregulation give rise to a congenital variant Rett syndrome-like phenotype. PMID: 22968132
30. In fibroblast cells, a cis-acting regulatory sequence located more than 0.6 Mb away from FOXG1 acts as a silencer at the transcriptional level. PMID: 22739344
31. FOXG1 mutations are involved in the molecular etiology of the congenital variant of Rett syndrome. PMID: 22129046
32. Alterations in the kinetics of FoxG1 binding to chromatin might contribute to the pathological effects of FOXG1 mutations. PMID: 22091895
33. The authors show that deletions including 14q13 result in a recognisable phenotype mainly due to haploinsufficiency of two genes (NKX2-1, PAX9). FOXG1 (on chromosome band 14q12) involvement seems to be the main determinant of phenotype severity. PMID: 22636604
34. Foxg1 is critical for dentate gyrus formation, especially during the early postnatal stage. PMID: 22378868
35. A small increase in the dosage of FOXG1 could cause infantile spasms. PMID: 21910242
36. The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis. PMID: 21441262
37. West syndrome was associated with 14q12 duplications harboring FOXG1 PMID: 21536641
38. Transgenic mice lacking microRNAs miR-9-2 and miR-9-3 exhibit multiple defects in their telencephalic structures which may be brought about by dysregulation of Foxg1, Nr2e1, Gsh2, and Meis2 expression. PMID: 21368052
39. We report a series of seven cases of patients with FIXG1 gebe duplications in 14q associated with developmental delay/mental retardation and speech delay as predominant features, as well as developmental epilepsy in the majority. PMID: 20736978
40. 150 patients affected by postnatal microcephaly, and identified two mutations: the c.326C>T (p.P109L) substitution and the c.730C>T transition, which induces the p.R244C mutation within the DNA-binding forkhead domain. PMID: 21280142
41. two de novo mutations (c.1248C>G, p.Y416X and c.460_461dupG, p.E154GfsX300) were identified in two unrelated girls with Rett syndrome PMID: 19806373
42. Two different de novo heterozygous FOXG1-truncating mutations were identified. The subject with the p.Trp308X mutation presented with a severe RTT-like neurodevelopmental disorder, while the p.Tyr400X allele was associated with classical RTT symptoms. PMID: 19564653
43. these results contribute to the clarification of the phenotype associated with FOXG1, confirming its role in the Rett syndrome spectrum. PMID: 19578037
44. BF-1 and PAX9 interact with PLU-1 via a novel conserved sequence motif (Ala-X-Ala-Ala-X-Val-Pro-X4-Val-Pro-X8-Pro, termed the VP motif) PMID: 12657635
45. The expression of FOXG1 showed an inverse relationship. FOXG1 copy gain was seen in 55/59 of a validating set of tumors and showed a positive correlation with protein expression representing the first report of FOXG1 dysregulation in medulloblastoma. PMID: 17522785
46. FOXG1 is responsible for the congenital variant of Rett syndrome. PMID: 18571142

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HGNC: 3811

OMIM: 164874

KEGG: hsa:2290

STRING: 9606.ENSP00000339004

UniGene: Hs.632336