FOXL2

Summary

Gene Symbol: FOXL2
Description: forkhead box L2
Alias: BPES, BPES1, PFRK, PINTO, POF3, forkhead box protein L2, forkhead transcription factor FOXL2
Species: human
Products:     FOXL2

Top Publications

  1. Kim M, Hur S, Yoo N, Lee S. Mutational analysis of FOXL2 codon 134 in granulosa cell tumour of ovary and other human cancers. J Pathol. 2010;221:147-52 pubmed publisher
    A missense somatic mutation in the FOXL2 gene affecting codon 134 has recently been reported in granulosa cell tumour (GCT) and thecoma of the ovary...
  2. Fleming N, Knower K, Lazarus K, Fuller P, Simpson E, Clyne C. Aromatase is a direct target of FOXL2: C134W in granulosa cell tumors via a single highly conserved binding site in the ovarian specific promoter. PLoS ONE. 2010;5:e14389 pubmed publisher
    ..Recently a specific point mutation (C134W) in the FOXL2 protein was identified in >94% of adult-type GCT and it is likely to contribute to their development...
  3. Pisarska M, Kuo F, Bentsi Barnes I, Khan S, Barlow G. LATS1 phosphorylates forkhead L2 and regulates its transcriptional activity. Am J Physiol Endocrinol Metab. 2010;299:E101-9 pubmed publisher
    Forkhead L2 (FOXL2) is expressed in the ovary and acts as a transcriptional repressor of the steroidogenic acute regulatory (StAR) gene, a marker of granulosa cell differentiation...
  4. Kuo F, Bentsi Barnes I, Barlow G, Bae J, Pisarska M. Sumoylation of forkhead L2 by Ubc9 is required for its activity as a transcriptional repressor of the Steroidogenic Acute Regulatory gene. Cell Signal. 2009;21:1935-44 pubmed publisher
    Forkhead L2 (FOXL2) is a member of the forkhead/hepatocyte nuclear factor 3 (FKH/HNF3) gene family of transcription factors and acts as a transcriptional repressor of the Steroidogenic Acute Regulatory (StAR) gene, a marker of granulosa ..
  5. Benayoun B, Batista F, Auer J, Dipietromaria A, L hôte D, De Baere E, et al. Positive and negative feedback regulates the transcription factor FOXL2 in response to cell stress: evidence for a regulatory imbalance induced by disease-causing mutations. Hum Mol Genet. 2009;18:632-44 pubmed publisher
    b>FOXL2 is a forkhead transcription factor, essential for ovarian function, whose mutations are responsible for the blepharophimosis syndrome, characterized by craniofacial defects, often associated with premature ovarian failure...
  6. Haghighi A, Verdin H, Haghighi Kakhki H, Piri N, Gohari N, De Baere E. Missense mutation outside the forkhead domain of FOXL2 causes a severe form of BPES type II. Mol Vis. 2012;18:211-8 pubmed
    ..BPES is essentially an autosomal dominant disease, due to mutations in the forkhead box L2 (FOXL2) gene, encoding a forkhead transcription factor...
  7. Köbel M, Gilks C, Huntsman D. Adult-type granulosa cell tumors and FOXL2 mutation. Cancer Res. 2009;69:9160-2 pubmed publisher
    ..Recently, we reported the identification of a somatic FOXL2 402C-->G mutation that is present in virtually all adult-type granulosa cell tumors, but not in a wide range of ..
  8. Duffin K, Bayne R, Childs A, Collins C, Anderson R. The forkhead transcription factor FOXL2 is expressed in somatic cells of the human ovary prior to follicle formation. Mol Hum Reprod. 2009;15:771-7 pubmed publisher
    ..The forkhead transcription factor FOXL2 is a candidate POF factor, and mutations in the FOXL2 gene are associated with syndromic and non-..
  9. D Haene B, Nevado J, Pugeat M, Pierquin G, Lowry R, Reardon W, et al. FOXL2 copy number changes in the molecular pathogenesis of BPES: unique cohort of 17 deletions. Hum Mutat. 2010;31:E1332-47 pubmed publisher
    ..is an autosomal dominant developmental disorder of the eyelids with or without ovarian dysfunction caused by FOXL2 mutations. Overall, FOXL2deletions represent 12% of all genetic defects in BPES...

More Information

Publications68

  1. Park M, Shin E, Won M, Kim J, Go H, Kim H, et al. FOXL2 interacts with steroidogenic factor-1 (SF-1) and represses SF-1-induced CYP17 transcription in granulosa cells. Mol Endocrinol. 2010;24:1024-36 pubmed publisher
    Mutations in FOXL2 are responsible for blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) type I, in which affected women exhibit premature ovarian failure...
  2. Harris S, Chand A, Winship I, Gersak K, Aittomaki K, Shelling A. Identification of novel mutations in FOXL2 associated with premature ovarian failure. Mol Hum Reprod. 2002;8:729-33 pubmed
    ..The FOXL2 gene of 70 POF patients from New Zealand and Slovenia was screened for mutations...
  3. Tang S, Wang X, Lin L, Sun Y, Wang Y, Yu H. Mutation analysis of the FOXL2 gene in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome. Mutagenesis. 2006;21:35-9 pubmed
    ..Both types of BPES have been mapped to chromosome 3q23 and are mostly due to mutations of a forkhead transcription factor FOXL2 gene which locates at this region. We screened for FOXL2 mutations in Chinese patients with BPES...
  4. Beysen D, Moumné L, Veitia R, Peters H, Leroy B, De Paepe A, et al. Missense mutations in the forkhead domain of FOXL2 lead to subcellular mislocalization, protein aggregation and impaired transactivation. Hum Mol Genet. 2008;17:2030-8 pubmed publisher
    Mutations of the FOXL2 gene have been shown to cause blepharophimosis syndrome (BPES), characterized by an eyelid malformation associated with premature ovarian failure or not...
  5. Moumné L, Fellous M, Veitia R. Deletions in the polyAlanine-containing transcription factor FOXL2 lead to intranuclear aggregation. Hum Mol Genet. 2005;14:3557-64 pubmed
    Mutations of FOXL2, a gene encoding a forkhead transcription factor, have been shown to cause the blepharophimosis-ptosis-epicanthus inversus syndrome...
  6. Vincent A, Watkins W, Sloan B, Shelling A. Blepharophimosis and bilateral Duane syndrome associated with a FOXL2 mutation. Clin Genet. 2005;68:520-3 pubmed
    ..inversus syndrome (BPES) and bilateral type I Duane syndrome in a female infant, with a FOXL2 mutation. Mutational analysis of FOXL2 demonstrated a 30-nucleotide duplication (c...
  7. Benayoun B, Caburet S, Dipietromaria A, Georges A, D Haene B, Pandaranayaka P, et al. Functional exploration of the adult ovarian granulosa cell tumor-associated somatic FOXL2 mutation p.Cys134Trp (c.402C>G). PLoS ONE. 2010;5:e8789 pubmed publisher
    The somatic mutation in the FOXL2 gene c.402C>G (p.Cys134Trp) has recently been identified in the vast majority of adult ovarian granulosa cell tumors (OGCTs) studied...
  8. Marongiu M, Deiana M, Meloni A, Marcia L, Puddu A, Cao A, et al. The forkhead transcription factor Foxl2 is sumoylated in both human and mouse: sumoylation affects its stability, localization, and activity. PLoS ONE. 2010;5:e9477 pubmed publisher
    The FOXL2 forkhead transcription factor is expressed in ovarian granulosa cells, and mutated FOXL2 causes the blepharophimosis, ptosis and epicanthus inversus syndrome (BPES) and predisposes to premature ovarian failure...
  9. Kim S, Weiss J, Tong M, Laronda M, Lee E, Jameson J. Foxl2, a forkhead transcription factor, modulates nonclassical activity of the estrogen receptor-alpha. Endocrinology. 2009;150:5085-93 pubmed publisher
    b>Foxl2 is a forkhead transcription factor required for ovary development and ovarian follicle maturation...
  10. Rosario R, Araki H, Print C, Shelling A. The transcriptional targets of mutant FOXL2 in granulosa cell tumours. PLoS ONE. 2012;7:e46270 pubmed publisher
    ..Intriguingly, a recurring somatic mutation in the transcription factor Forkhead Box L2 (FOXL2) 402C>G has been found in nearly all GCTs examined...
  11. L hôte D, Georges A, Todeschini A, Kim J, Benayoun B, Bae J, et al. Discovery of novel protein partners of the transcription factor FOXL2 provides insights into its physiopathological roles. Hum Mol Genet. 2012;21:3264-74 pubmed publisher
    b>FOXL2 transcription factor is responsible for the Blepharophimosis Ptosis Epicantus inversus Syndrome (BPES), a genetic disease involving craniofacial malformations often associated with ovarian failure...
  12. Kosaki K, Ogata T, Kosaki R, Sato S, Matsuo N. A novel mutation in the FOXL2 gene in a patient with blepharophimosis syndrome: differential role of the polyalanine tract in the development of the ovary and the eyelid. Ophthalmic Genet. 2002;23:43-7 pubmed
    Blepharophimosis/ptosis/epicanthus inversus syndrome (BPES) is an autosomal dominant disorder characterized by abnormalities of the eyelids...
  13. Cocquet J, Pailhoux E, Jaubert F, Servel N, Xia X, Pannetier M, et al. Evolution and expression of FOXL2. J Med Genet. 2002;39:916-21 pubmed
  14. Kumar A, Babu M, Raghunath A, Venkatesh C. Genetic analysis of a five generation Indian family with BPES: a novel missense mutation (p.Y215C). Mol Vis. 2004;10:445-9 pubmed
    ..inversus syndrome (BPES) is a rare eye genetic disorder caused by mutations in the FOXL2 gene located at chromosome 3q23...
  15. D Angelo E, Mozos A, Nakayama D, Espinosa I, Catasus L, Muñoz J, et al. Prognostic significance of FOXL2 mutation and mRNA expression in adult and juvenile granulosa cell tumors of the ovary. Mod Pathol. 2011;24:1360-7 pubmed publisher
    Recently, mutation of the FOXL2 gene has been consistently identified in adult granulosa cell tumors of the ovary...
  16. Wang J, Liu J, Zhang Q. FOXL2 mutations in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome. Mol Vis. 2007;13:108-13 pubmed
    ..It is ascribed to mutations in the forkhead transcriptional factor2 (FOXL2) gene. The purpose of this study is to identify mutations in FOXL2 of Chinese patients with BPES.
  17. Ramírez Castro J, Pineda Trujillo N, Valencia A, Muneton C, Botero O, Trujillo O, et al. Mutations in FOXL2 underlying BPES (types 1 and 2) in Colombian families. Am J Med Genet. 2002;113:47-51 pubmed
    ..Linkage and haplotype analyses indicate that BPES in these families is linked to 3q23. Mutation screening of FOXL2 in the family with BPES type 1 revealed a novel 394C --> T nonsense mutation which deletes the forkhead DNA ..
  18. Bentsi Barnes I, Kuo F, Barlow G, Pisarska M. Human forkhead L2 represses key genes in granulosa cell differentiation including aromatase, P450scc, and cyclin D2. Fertil Steril. 2010;94:353-6 pubmed publisher
    b>FOXL2 is expressed in granulosa cells (GC) of small and medium ovarian follicles, functions as a repressor of the human steroidogenic acute regulatory gene, a marker of a GC differentiation, and its mutation is associated with premature ..
  19. Nallathambi J, Moumné L, De Baere E, Beysen D, Usha K, Sundaresan P, et al. A novel polyalanine expansion in FOXL2: the first evidence for a recessive form of the blepharophimosis syndrome (BPES) associated with ovarian dysfunction. Hum Genet. 2007;121:107-12 pubmed
    ..Mutations in the FOXL2 gene, encoding a forkhead transcription factor, are responsible for both types of BPES...
  20. Caburet S, Demarez A, Moumné L, Fellous M, De Baere E, Veitia R. A recurrent polyalanine expansion in the transcription factor FOXL2 induces extensive nuclear and cytoplasmic protein aggregation. J Med Genet. 2004;41:932-6 pubmed
    ..It is caused by mutations in the FOXL2 gene, which encodes a forkhead transcription factor containing a polyalanine (polyAla) domain of 14 alanines...
  21. Kim J, Yoon S, Park M, Park H, Ko J, Lee K, et al. Differential apoptotic activities of wild-type FOXL2 and the adult-type granulosa cell tumor-associated mutant FOXL2 (C134W). Oncogene. 2011;30:1653-63 pubmed publisher
    Some mutations in FOXL2 result in premature ovarian failure accompanied by blepharophimosis, ptosis, epicanthus inversus syndrome type I disease, and FOXL2-null mice exhibit developmental defects in granulosa cells. Recently, FOXL2 c...
  22. Benayoun B, Caburet S, Dipietromaria A, Bailly Bechet M, Batista F, Fellous M, et al. The identification and characterization of a FOXL2 response element provides insights into the pathogenesis of mutant alleles. Hum Mol Genet. 2008;17:3118-27 pubmed publisher
    The Forkhead transcription factor FOXL2 plays a crucial role in ovarian development and maintenance. In humans, its mutations lead to craniofacial abnormalities, isolated or associated with ovarian dysfunction...
  23. Beysen D, De Paepe A, De Baere E. FOXL2 mutations and genomic rearrangements in BPES. Hum Mutat. 2009;30:158-69 pubmed publisher
    The FOXL2 gene is one of 10 forkhead genes, the mutations of which lead to human developmental disorders, often with ocular manifestations...
  24. D Haene B, Attanasio C, Beysen D, Dostie J, Lemire E, Bouchard P, et al. Disease-causing 7.4 kb cis-regulatory deletion disrupting conserved non-coding sequences and their interaction with the FOXL2 promotor: implications for mutation screening. PLoS Genet. 2009;5:e1000522 pubmed publisher
    ..model for monogenic disease we studied the involvement of genetic changes of CNCs in the cis-regulatory domain of FOXL2 in blepharophimosis syndrome (BPES)...
  25. Beysen D, Raes J, Leroy B, Lucassen A, Yates J, Clayton Smith J, et al. Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndrome. Am J Hum Genet. 2005;77:205-18 pubmed
    ..In previous mutation studies of the role of FOXL2 in blepharophimosis syndrome (BPES), we identified intragenic mutations in 70% of our patients...
  26. Lamba P, Fortin J, Tran S, Wang Y, Bernard D. A novel role for the forkhead transcription factor FOXL2 in activin A-regulated follicle-stimulating hormone beta subunit transcription. Mol Endocrinol. 2009;23:1001-13 pubmed publisher
    ..variation in a single base pair in close proximity that conferred strong binding of the forkhead transcription factor FOXL2 to the porcine, but not human or murine, promoters...
  27. Nallathambi J, Laissue P, Batista F, Benayoun B, Lesaffre C, Moumné L, et al. Differential functional effects of novel mutations of the transcription factor FOXL2 in BPES patients. Hum Mutat. 2008;29:E123-31 pubmed publisher
    Mutations of the transcription factor FOXL2, involved in cranio-facial and ovarian development lead to the Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome (BPES) in human...
  28. Jamieson S, Butzow R, Andersson N, Alexiadis M, Unkila Kallio L, Heikinheimo M, et al. The FOXL2 C134W mutation is characteristic of adult granulosa cell tumors of the ovary. Mod Pathol. 2010;23:1477-85 pubmed publisher
    ..It has recently been reported that 95-97% of adult granulosa cell tumors carry a unique somatic mutation in the FOXL2 gene...
  29. De Baere E, Dixon M, Small K, Jabs E, Leroy B, Devriendt K, et al. Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype--phenotype correlation. Hum Mol Genet. 2001;10:1591-600 pubmed
    Mutations in FOXL2, a forkhead transcription factor gene, have recently been shown to cause blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) types I and II, a rare genetic disorder...
  30. Dollfus H, Stoetzel C, Riehm S, Lahlou Boukoffa W, Bediard Boulaneb F, Quillet R, et al. Sporadic and familial blepharophimosis -ptosis-epicanthus inversus syndrome: FOXL2 mutation screen and MRI study of the superior levator eyelid muscle. Clin Genet. 2003;63:117-20 pubmed
    The analysis of the FOXL2 gene (3q23) in a series of two families and two sporadic cases affected with Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome (BPES) is presented...
  31. Todeschini A, Dipietromaria A, L hôte D, Boucham F, Georges A, Pandaranayaka P, et al. Mutational probing of the forkhead domain of the transcription factor FOXL2 provides insights into the pathogenicity of naturally occurring mutations. Hum Mol Genet. 2011;20:3376-85 pubmed publisher
    Mutations of the transcription factor FOXL2, involved in cranio-facial and ovarian development, lead to the Blepharophimosis Syndrome...
  32. Raile K, Stobbe H, Tröbs R, Kiess W, Pfaffle R. A new heterozygous mutation of the FOXL2 gene is associated with a large ovarian cyst and ovarian dysfunction in an adolescent girl with blepharophimosis/ptosis/epicanthus inversus syndrome. Eur J Endocrinol. 2005;153:353-8 pubmed
    ..Mutations of a putative winged helix/forkhead transcription factor FOXL2 account for both types of BPES...
  33. Bell R, Murday V, Patton M, Jeffery S. Two families with blepharophimosis/ptosis/epicanthus inversus syndrome have mutations in the putative forkhead transcription factor FOXL2. Genet Test. 2001;5:335-8 pubmed
    ..Both types of BPES are linked to 3q22-23, and the gene has recently been identified as the putative forkhead transcription factor FOXL2. We report mutation screening of FOXL2 in two families with this condition...
  34. De Baere E, Beysen D, Oley C, Lorenz B, Cocquet J, De Sutter P, et al. FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation. Am J Hum Genet. 2003;72:478-87 pubmed
    ..type I) or not (type II) with premature ovarian failure (POF), has recently been ascribed to mutations in FOXL2, a putative forkhead transcription factor gene...
  35. Fokstuen S, Antonarakis S, Blouin J. FOXL2-mutations in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES); challenges for genetic counseling in female patients. Am J Med Genet A. 2003;117A:143-6 pubmed
    Mutations in the forkhead transcription factor gene 2 (FOXL2) were recently reported to cause blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) types I and II...
  36. Li D, Zeng W, Tao J, Li S, Liang C, Chen X, et al. Mutations of the transcription factor FOXL2 gene in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome. Genet Test Mol Biomarkers. 2009;13:257-68 pubmed publisher
    ..Multiple mutations in the exon and the putative core promoter region of FOXL2 gene encoding a putative forkhead transcription factor have been linked to this disease...
  37. Crisponi L, Uda M, Deiana M, Loi A, Nagaraja R, Chiappe F, et al. FOXL2 inactivation by a translocation 171 kb away: analysis of 500 kb of chromosome 3 for candidate long-range regulatory sequences. Genomics. 2004;83:757-64 pubmed
    A translocation breakpoint 171 kb 5' of the transcription start of FOXL2 causes blepharophimosis/ptosis/epicanthus inversus syndrome (BPES) and associated premature ovarian failure...
  38. Beysen D, De Jaegere S, Amor D, Bouchard P, Christin Maitre S, Fellous M, et al. Identification of 34 novel and 56 known FOXL2 mutations in patients with Blepharophimosis syndrome. Hum Mutat. 2008;29:E205-19 pubmed publisher
    ..syndrome (BPES) is caused by loss-of-function mutations in the single-exon forkhead transcription factor gene FOXL2 and by genomic rearrangements of the FOXL2 locus...
  39. Kaur I, Hussain A, Naik M, Murthy R, Honavar S. Mutation spectrum of fork-head transcriptional factor gene (FOXL2) in Indian Blepharophimosis Ptosis Epicanthus Inversus Syndrome (BPES) patients. Br J Ophthalmol. 2011;95:881-6 pubmed publisher
    The fork-head transcription factor gene (FOXL2) gene has been implicated in Blepharophimosis Ptosis Epicanthus Inversus Syndrome (BPES) type I and type II...
  40. Benayoun B, Georges A, L hôte D, Andersson N, Dipietromaria A, Todeschini A, et al. Transcription factor FOXL2 protects granulosa cells from stress and delays cell cycle: role of its regulation by the SIRT1 deacetylase. Hum Mol Genet. 2011;20:1673-86 pubmed publisher
    b>FOXL2 is a transcription factor that is essential for ovarian function and maintenance, the germline mutations of which are responsible for the Blepharophimosis Ptosis Epicanthus-inversus Syndrome (BPES), often associated with premature ..
  41. Nonis D, McTavish K, Shimasaki S. Essential but differential role of FOXL2wt and FOXL2C134W in GDF-9 stimulation of follistatin transcription in co-operation with Smad3 in the human granulosa cell line COV434. Mol Cell Endocrinol. 2013;372:42-8 pubmed publisher
    The FOXL2(C134W) mutation has been identified in virtually all adult granulosa cell tumors (GCTs)...
  42. Shah S, Köbel M, Senz J, Morin R, Clarke B, Wiegand K, et al. Mutation of FOXL2 in granulosa-cell tumors of the ovary. N Engl J Med. 2009;360:2719-29 pubmed publisher
    ..All four index GCTs had a missense point mutation, 402C-->G (C134W), in FOXL2, a gene encoding a transcription factor known to be critical for granulosa-cell development...
  43. Udar N, Yellore V, Chalukya M, Yelchits S, Silva Garcia R, Small K. Comparative analysis of the FOXL2 gene and characterization of mutations in BPES patients. Hum Mutat. 2003;22:222-8 pubmed
    ..The mutations causing this disorder were found in a winged/forkhead transcription factor gene named FOXL2. We have sequenced the mouse homolog for the FOXL2 gene and identified the Fugu rubripes (pufferfish) ortholog ..
  44. Beysen D, Vandesompele J, Messiaen L, De Paepe A, De Baere E. The human FOXL2 mutation database. Hum Mutat. 2004;24:189-93 pubmed
    ..In 2001, mutations in the FOXL2 gene, encoding a forkhead transcription factor, were shown to cause both BPES type I and II...
  45. Schrader K, Gorbatcheva B, Senz J, Heravi Moussavi A, Melnyk N, Salamanca C, et al. The specificity of the FOXL2 c.402C>G somatic mutation: a survey of solid tumors. PLoS ONE. 2009;4:e7988 pubmed publisher
    A somatic mutation in the FOXL2 gene is reported to be present in almost all (97%; 86/89) morphologically defined, adult-type, granulosa-cell tumors (A-GCTs). This FOXL2 c...
  46. Benayoun B, Anttonen M, L hôte D, Bailly Bechet M, Andersson N, Heikinheimo M, et al. Adult ovarian granulosa cell tumor transcriptomics: prevalence of FOXL2 target genes misregulation gives insights into the pathogenic mechanism of the p.Cys134Trp somatic mutation. Oncogene. 2013;32:2739-46 pubmed publisher
    ..Indeed, recent studies have indicated that mutation and/or misregulation of the key ovarian transcription factor FOXL2 has a role in OGCT formation, although the mechanisms remain unclear...
  47. Geiersbach K, Jarboe E, Jahromi M, Baker C, Paxton C, Tripp S, et al. FOXL2 mutation and large-scale genomic imbalances in adult granulosa cell tumors of the ovary. Cancer Genet. 2011;204:596-602 pubmed publisher
    ..Over 90% contain a missense point mutation (C134W) in the FOXL2 gene at 3q22.3...
  48. Pannetier M, Fabre S, Batista F, Kocer A, Renault L, Jolivet G, et al. FOXL2 activates P450 aromatase gene transcription: towards a better characterization of the early steps of mammalian ovarian development. J Mol Endocrinol. 2006;36:399-413 pubmed publisher
    Previous studies have equated FOXL2 as a crucial actor in the ovarian differentiation process in different vertebrate species...
  49. Hes O, Vanecek T, Petersson F, Grossmann P, Hora M, Perez Montiel D, et al. Mutational analysis (c.402C>G) of the FOXL2 gene and immunohistochemical expression of the FOXL2 protein in testicular adult type granulosa cell tumors and incompletely differentiated sex cord stromal tumors. Appl Immunohistochem Mol Morphol. 2011;19:347-51 pubmed publisher
    Recently a somatic point mutation in the FOXL2 gene has been characterized in ovarian adult type of granulosa cell tumor (ATGCT) (94.6%), thecomas (12...
  50. Kalfa N, Fellous M, Boizet Bonhoure B, Patte C, Duvillard P, Pienkowski C, et al. Aberrant expression of ovary determining gene FOXL2 in the testis and juvenile granulosa cell tumor in children. J Urol. 2008;180:1810-3 pubmed publisher
    b>FOXL2 is the earliest known marker of ovarian differentiation in mammals. It is involved in ovarian somatic cell differentiation and further follicle maintenance...
  51. Lee K, Pisarska M, Ko J, Kang Y, Yoon S, Ryou S, et al. Transcriptional factor FOXL2 interacts with DP103 and induces apoptosis. Biochem Biophys Res Commun. 2005;336:876-81 pubmed
    Blepharophimosis-ptosis-epicanthus inversus syndrome type I is an autosomal disorder caused by mutations in FOXL2 gene and associated with premature ovarian failure in women by a dominant inheritance...
  52. Fan J, Wang Y, Han B, Ji Y, Song H, Fan X. FOXL2 mutations in Chinese families with Blepharophimosis syndrome (BPES). Transl Res. 2011;157:48-52 pubmed publisher
    ..In BPES type II, eyelid anomalies alone are observed. Mutations of FOXL2, which is a gene encoding a forkhead transcription factor, have recently been shown to cause both types of BPES...
  53. Crisponi L, Deiana M, Loi A, Chiappe F, Uda M, Amati P, et al. The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome. Nat Genet. 2001;27:159-66 pubmed
    ..We have positionally cloned a novel, putative winged helix/forkhead transcription factor gene, FOXL2, that is mutated to produce truncated proteins in type I families and larger proteins in type II...
  54. Kaestner K, Knochel W, Martinez D. Unified nomenclature for the winged helix/forkhead transcription factors. Genes Dev. 2000;14:142-6 pubmed
  55. Moumné L, Dipietromaria A, Batista F, Kocer A, Fellous M, Pailhoux E, et al. Differential aggregation and functional impairment induced by polyalanine expansions in FOXL2, a transcription factor involved in cranio-facial and ovarian development. Hum Mol Genet. 2008;17:1010-9 pubmed
    ..have undertaken a functional study of the effects of polyAla expansions in the context of the transcription factor FOXL2, involved in cranio-facial and ovarian development...
  56. Georges A, Benayoun B, Marongiu M, Dipietromaria A, L hôte D, Todeschini A, et al. SUMOylation of the Forkhead transcription factor FOXL2 promotes its stabilization/activation through transient recruitment to PML bodies. PLoS ONE. 2011;6:e25463 pubmed publisher
    b>FOXL2 is a transcription factor essential for ovarian development and maintenance...
  57. Dipietromaria A, Benayoun B, Todeschini A, Rivals I, Bazin C, Veitia R. Towards a functional classification of pathogenic FOXL2 mutations using transactivation reporter systems. Hum Mol Genet. 2009;18:3324-33 pubmed publisher
    Mutations of FOXL2 are responsible for the Blepharophimosis-Ptotsis-Epicantus-inversus Syndrome (BPES), involving complex eyelid malformations often associated with premature ovarian failure (POF)...
  58. Corpuz P, Lindaman L, Mellon P, Coss D. FoxL2 Is required for activin induction of the mouse and human follicle-stimulating hormone beta-subunit genes. Mol Endocrinol. 2010;24:1037-51 pubmed publisher
    Activin is a major physiological regulator of FSH. We identify FoxL2 as a critical component in activin induction of FSHbeta, both for the mouse gene, induction of which is Sma- and Mad-related protein (Smad) dependent, and for the human ..
  59. Blount A, Schmidt K, Justice N, Vale W, Fischer W, Bilezikjian L. FoxL2 and Smad3 coordinately regulate follistatin gene transcription. J Biol Chem. 2009;284:7631-45 pubmed publisher
    ..We identified FoxL2, a member of the forkhead family, as a candidate modulator of SBE1 function...