Recombinant Human Forkhead box protein L2 (FOXL2)

1. Thus, FOXL2C134W potentiates CYP19 expression in HGrC1 cells via enhanced recruitment of SMAD3 to a proximal FOX binding element. PMID: 29471425
2. In the present study, we analysed two Han Chinese families with BPES type I and identified two novel mutations (c.462_468del and c.988_989insG). Immunofluorescence and confocal microscopy revealed that the extended FOXL2, p.Ala330Glyfs*204, induced significant mislocalization and aggregation. PMID: 29378385
3. Three loci with high mutation frequencies, the 138665410 FOXL2 gene variant, the 23862952 MYH6 gene variant, and the 71098693 HYDIN gene variant were found to be significantly associated with sporadic Atrial Septal Defect (P<0.05); variants in FOXL2 and MYH6 were found in patients with isolated, sporadic Atrial Septal Defect (P<5x10-4). PMID: 29505555
4. We describe a girl and her father with isolated BPES without an intragenic mutation in FOXL2. MLPA of a FOXL2 enhancer region identified a small microdeletion at 234 kb upstream of FOXL2. This deletion fully includes the PISRT1 gene, a noncoding gene which is part of a cis-regulatory element of FOXL2 PMID: 29481440
5. MiR-937 inhibits the proliferation and metastasis of gastric cancer cells by targeting FOXL2 via inactivation of PI3K/AKT signaling pathway. These results suggest that miR-937 may be a potential target for the treatment of gastric cancer. PMID: 29060929
6. This study demonstrated the existence of an AMH-FOXL2 relationship in hGCs. AMH is capable of increasing both gene and protein expression of FOXL2. Because FOXL2 induces AMH transcription, these ovarian factors could be finely regulated by a positive feedback loop mechanism to preserve the ovarian follicle reserve. PMID: 28660501
7. A novel FOXL2 indel mutation was identified in Chinese families with BPES. Our results expand the spectrum of known FOXL2 mutations and provide additional insight into the structure-function relationships of the FOXL2 protein. PMID: 28924383
8. The adult granulosa cell tumor (AGCT)-like components are likely to be tumor-like proliferations but not truly neoplastic AGCT. FOXL2 mutation testing may be useful in confirming an AGCT-like component. PMID: 27648785
9. This novel duplicate mutation (c.844_860dup17, p.His291Argfs*71) in FOXL2 was identified in a Chinese family with both types of BPES. These findings expand current knowledge of the mutation spectrum of the FOXL2 gene and confirmed the intrafamily phenotypic heterogeneity of BPES. PMID: 28849110
10. The study shows that half of granulosa theca cell tumors harbor the same FOXL2 mutation that characterizes adult granulosa cell tumors but there is no outcome evidence to guide whether mutation status should alter the classification of the tumor or the management of the patient. PMID: 28319575
11. The promoter of FOXL2 was successfully cloned and registered in Gen Bank, and a dual luciferase reporter (DLR) analysis demonstrated that the luciferase activity was significantly induced by the promoter of FOXL2. Subsequently, bioinformatics analysis indicated that FOXL2 may be regulated by STAT3. PMID: 28677787
12. This study demonstrated that the transactivation of FOXL2 driven by interactions between HMGA2 and pRb might exert critical effects on the metastases and EMT of chemoresistant gastric cancer. Blocking the HMGA2-FOXL2-ITGA2 pathway could serve as a new strategy for gastric cancer treatment. PMID: 28119367
13. A novel deletion mutation (C.634_641 del, CCCATGC) between the forkhead domain and the polyalanine domain was found, resulting in a frameshift mutation and a truncated protein. PMID: 29339661
14. FOXL2 had a sensitivity and specificity of 100% for all the cases of sex cord stromal tumors included in this study PMID: 28272677
15. Our results suggest that, in contrast to FOXL2 mutations in adult granulosa cell tumours (A-GCTs), DICER1 mutations in Sertoli-Leydig cell tumours (SLCTs) might be more useful for prognosis than for diagnosis. PMID: 26033501
16. Despite exhibiting an immunophenotype characteristic of a sex cord-stromal tumor, mutations in FOXL2 and DICER1, the 2 most common mutations hitherto reported in ovarian sex cord-stromal tumors, are not a feature of Uterine tumor resembling ovarian sex cord tumor (UTROSCT). PMID: 26598979
17. This report describes the preservation of heterozygous c.402C>G FOXL2 mutation in recurrent aGCTs. This finding adds further credence to the concept that the c.402C>G FOXL2 mutation is oncogenic and integral to this disease. PMID: 28594898
18. The novel mutations of the FOXL2 are associated with blepharophimosis, ptosis and epicanthus inversus syndrome. PMID: 28604951
19. this study identified a novel regulatory circuit for ovarian AMH production; specifically, through the coordinated interplay between FOXL2 and SF-1 that could control ovarian follicle development. PMID: 27414805
20. we report the identification of two novel and two recurrent heterozygous NOBOX variants in 7 out of 107 patients, with a prevalence of 6.5% (upper 95% confidence limit of 11.17%). Several variants conserve the ability to interact with FOXL2 in intracellular aggregates PMID: 27798098
21. This is the first study reporting lacrimal gland(LG) volumes in BPES, describing a significant number of patients with LG agenesis. Molecular analysis of the FOXL2 gene revealed the presence of 8 distinct mutations. PMID: 27914838
22. In the case of aGCT, a well characterized mutation in the FOXL2 transcription factor (FOXL2 C134W) is found in almost all cases, which arguably defines the disease, although the molecular events that determine the stage, behavior and prognosis of aGCT remain to be determined. PMID: 27813081
23. We highlight the cooperation of WNT4, RSPO1 and FOXL2 within a regulatory network and the need for further research to better understand their role in defining and maintaining ovarian identity. PMID: 27604691
24. The de novo mutation rate in FOXL2 is exceptionally high compared with other dominant disorders manifesting with an ocular phenotype. PMID: 27283035
25. SUMOylation of FOXL2 and PML Bodies PMID: 22022399
26. Ten novel protein partners of FOXL2 PMID: 22544055
27. FOXL2 mobilizes estrogen signaling to maintain the identity of ovarian granulosa cells PMID: 25369636
28. The absence of FOXL2 and DICER1 gene mutation observed in 3 patients, along with strong FOXL2 immunoreactivity provides additional evidence to place microcystic stromal tumor within pure gonadal stromal rather than sex cord ovarian tumors. PMID: 27830327
29. genetic association study in two families with blepharophimosis-ptosis-epicanthus inversus syndrome type 1: Two distinct mutations, a missense p.H104R change and an in-frame p.A222_A231dup10 duplication in FOXL2 gene are identified in three women. PMID: 26100530
30. suggests the potential of pS33 FOXL2 to serve as a new biomarker for the diagnosis of adult-type GCT PMID: 25871347
31. Our combined analysis identifies potential candidate genes, whose alterations might contribute to adult-type Ovarian granulosa cell tumors formation/progression together with the recurrent FOXL2 somatic mutation. PMID: 25884336
32. Foxl2 deletion in either Cranial Neural Crest Cells (CNCCs) or Cranial Mesodermal Cells (CMCs) prevents eyelid closure and induces subtle skeletal developmental defects. PMID: 25416281
33. C134W mutation affects granulosa cell tumor development via differential posttranslational modifications of FOXL2 by GSK3B. PMID: 24390485
34. Two novel FOXL2 mutations (c.675_690delinsT, and p.Leu75Phe) were identified in Chinese families with blepharophimosis-ptosis-epicanthus inversus syndrome. PMID: 26323275
35. Uterine tumors resembling ovarian sex cord tumors do not harbor FOXL2 mutation PMID: 25581731
36. FOXL2 p.C134W mutation-positive adult-type granulosa cell tumor of the ovary may not be common in the Japanese. PMID: 24689977
37. report the 402C-->G FOXL2 mutation status in five epithelial ovarian lesions in women aged 45-77 years showing stromal proliferations that were morphologically indistinguishable from adult granulosa cell tumour PMID: 24138090
38. FOXL2 mRNA is hyperexpressed in the endometrium in endometriosis. PMID: 24520083
39. both NOBOX and FOXL2 are expressed in human follicle granulosa cells and their interaction plays an inhibitory role in the transcriptional response of these promoters. PMID: 24620032
40. Mouse Foxl2 expression is downregulated by mir-133a. PMID: 25317675
41. FOXL2 suppresses proliferation, invasion and promotes apoptosis of cervical cancer cells. PMID: 24817949
42. The authors describe a boy with blepharophimosis syndrome plus from a de novo heterozygous 3q22.3-q24 11.2 Mb microdeletion. PMID: 25032695
43. decreased apoptotic and antiproliferative activities caused by mutant forms of FOXL2 found in blepharophimosis-ptosis-epicanthus inversus syndrome patients may at least partially contribute to the pathophysiology of ovarian dysfunction. PMID: 24240106
44. In this review, we focus on the role of four specific FOX factors (FOXD1, FOXL2, FOXO1 and FOXP3) in gonadotropin hormone production PMID: 24099863
45. investigated the impact of FOXL2 point mutation testing in a large cohort of adult-type granulosa cell tumours of the ovary PMID: 24192202
46. The molecular interactions of FOXL2, GATA4, and SMAD3 and their roles in the regulation of CCND2 using co-immunoprecipitation, promoter transactivation, and cell viability assays in human granulosa cell tumor cells, were investigated. PMID: 24416423
47. a FOXL2 mutation (c.402C>G) may have a role in development of adult-type ovarian granulosa cell tumors in Japanese patients PMID: 24257635
48. The 402C>G mutation in FOXL2, found in adult ovarian granulosa cell tumors, appears to deregulate the anti-proliferative TGF-beta pathway. Mutant FOXL2's inability to elicit an apoptotic signal cascade may be important in pathogenesis. [Review Article] PMID: 24342437
49. FOXL2 is expressed in normal ovaries and ovarian sex cord stromal tumors, is also expressed in ovarian-type stroma characteristic of pancreatic mucinous cystic neoplasms, hepatobiliary cystadenomas, and mixed epithelial and stromal tumor of the kidney . PMID: 24746205
50. We investigated the mechanism by which Notch1 activation controls expression of FoxL2, which in turn activates smooth muscle actin gene expression in periocular mesenchyma to control eyelid levator smooth muscle formation. PMID: 23084143

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HGNC: 1092

OMIM: 110100

KEGG: hsa:668

STRING: 9606.ENSP00000333188

UniGene: Hs.289292