| 1 | BPES, FOXL2
|
| The Genetic and Clinical Features of FOXL2-Related Blepharophimosis, Ptosis and Epicanthus Inversus Syndrome.
|
| Méjécase C, Nigam C, Moosajee M, Bladen JC.
|
| Genes (Basel). Mar 4;12(3):364. doi: 10.3390/genes12030364. 2021
|
| 2 | FOXL2
|
| FOXL2 in adult-type granulosa cell tumour of the ovary: oncogene or tumour suppressor gene?
|
| Pilsworth JA, Todeschini AL, Neilson SJ, Cochrane DR, Lai D, Anttonen M, Heikinheimo M, Huntsman DG, Veitia RA.
|
| J Pathol. Nov;255(3):225-231. doi: 10.1002/path.5771. Epub 2021 Sep 1. 2021
|
| 3 | ESR2, FOXL2
|
| Genomic exploration of the targets of FOXL2 and ESR2 unveils their implication in cell migration, invasion, and adhesion.
|
| Herman L, Legois B, Todeschini AL, Veitia RA.
|
| FASEB J. Apr;35(4):e21355. doi: 10.1096/fj.202002444R. 2021
|
| 4 | FOXL2, FSHB, SMAD4
|
| Human Follicle-Stimulating Hormone ß Subunit Expression Depends on FOXL2 and SMAD4
|
| Ongaro L, Schang G, Zhou Z, Kumar TR, Treier M, Deng CX, Boehm U, Bernard DJ
|
| Endocrinology. May 1;161(5):bqaa045. doi: 10.1210/endocr/bqaa045 2020
|
| 5 | FOXL2
|
| Increased FOXL2 expression alters uterine structures and functions
|
| Li R, Wu SP, Zhou L, Nicol B, Lydon JP, Yao HH, DeMayo FJ.
|
| Biol Reprod. Oct 29;103(5):951-965. doi: 10.1093/biolre/ioaa143. 2020
|
| 6 | FOXL2, RUNX1
|
| RUNX1 maintains the identity of the fetal ovary through an interplay with FOXL2
|
| Nicol B, Grimm SA, Chalmel F, Lecluze E, Pannetier M, Pailhoux E, Dupin-De-Beyssat E, Guiguen Y, Capel B, Yao HH.
|
| Nat Commun. Nov 11;10(1):5116. doi: 10.1038/s41467-019-13060-1. 2019
|
| 7 | BPES, FOXL2
|
| Novel FOXL2 mutations cause blepharophimosis-ptosis-epicanthus inversus syndrome with premature ovarian insufficiency.
|
| Yang XW, He WB, Gong F, Li W, Li XR, Zhong CG, Lu GX, Lin G, Du J, Tan YQ.
|
| Mol Genet Genomic Med. Mar;6(2):261-267. doi: 10.1002/mgg3.366. Epub 2018 Jan 29. 2018
|
| 8 | FOXL2, STAT3
|
| Cloning of the promoter region of a human gene, FOXL2, and its regulation by STAT3.
|
| Han Y, Wang T, Sun S, Zhai Z, Tang S.
|
| Mol Med Rep. Sep;16(3):2856-2862. doi: 10.3892/mmr.2017.6914. Epub 2017 Jul 4. 2017
|
| 9 | FOXL2
|
| Impact of FOXL2 mutations on signaling in ovarian granulosa cell tumors.
|
| Leung DTH, Fuller PJ, Chu S.
|
| Int J Biochem Cell Biol. Mar;72:51-54. doi: 10.1016/j.biocel.2016.01.003. Epub 2016 Jan 11. 2016
|
| 10 | FOXL2
|
| Involvement of FOXL2 and RSPO1 in Ovarian Determination, Development, and Maintenance in Mammals. 2016; PMID:
|
| Pannetier M, Chassot AA, Chaboissier MC, Pailhoux E.
|
| Sex Dev. 10(4):167-184. doi: 10.1159/000448667. Epub 2016 Sep 21. 2016
|
| 11 | FOXL2, NR5A1
|
| FOXL2 Is an Essential Activator of SF-1-Induced Transcriptional Regulation of Anti-Müllerian Hormone in Human Granulosa Cells
|
| Jin H, Won M, Park SE, Lee S, Park M, Bae J.
|
| PLoS One. Jul 14;11(7):e0159112. doi: 10.1371/journal.pone.0159112. 2016
|
| 12 | FOXL2, FSHB, SMAD4
|
| Maximal expression of Foxl2 in pituitary gonadotropes requires ovarian hormones.
|
| Herndon MK, Nilson JH.
|
| PLoS One. May 8;10(5):e0126527. doi: 10.1371/journal.pone.0126527. 2015
|
| 13 | FOXL2, FSHB, SMAD4
|
| Follicle-stimulating hormone synthesis and fertility depend on SMAD4 and FOXL2.
|
| Fortin J, Boehm U, Deng CX, Treier M, Bernard DJ.
|
| FASEB J. Aug;28(8):3396-410. doi: 10.1096/fj.14-249532. Epub 2014 Apr 16 2014
|
| 14 | FOXL2
|
| FOXL2 in human endometrium: hyperexpressed in endometriosis.
|
| Governini L, Carrarelli P, Rocha AL, Leo VD, Luddi A, Arcuri F, Piomboni P, Chapron C, Bilezikjian LM, Petraglia F.
|
| Reprod Sci. Oct;21(10):1249-55. doi: 10.1177/1933719114522549. Epub 2014 Feb 11. 2014
|
| 15 | FOXL2
|
| FOXL2: a central transcription factor of the ovary.
|
| Georges A, Auguste A, Bessière L, Vanet A, Todeschini AL, Veitia RA.
|
| J Mol Endocrinol. Dec 19;52(1):R17-33. doi: 10.1530/JME-13-0159. 2013
|
| 16 | FOXL2
|
| Genetic analysis of the FOXL2 gene using quantitative real-time PCR in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome.
|
| Hu S, Guo J, Wang B, Wang J, Zhou Z, Zhou G, Ding X, Ma X, Qi Y.
|
| Mol Vis. 17:436-42. 2011
|
| 17 | FOXL2
|
| Differential apoptotic activities of wild-type FOXL2 and the adult-type granulosa cell tumor-associated mutant FOXL2 (C134W).
|
| Kim JH, Yoon S, Park M, Park HO, Ko JJ, Lee K, Bae J.
|
| Oncogene 30(14):1653-63. Epub 2010 Nov 29.
2011
|
| 18 | ATR, DEL3Q2, FOXL2, ZIC1, ZIC4
|
| De novo interstitial deletion of 3q22.3-q25.2 encompassing FOXL2, ATR, ZIC1, and ZIC4 in a patient with blepharophimosis/ptosis/epicanthus inversus syndrome, Dandy-Walker malformation, and global developmental delay.
|
| Lim BC, Park WY, Seo EJ, Kim KJ, Hwang YS, Chae JH.
|
| J Child Neurol 26(5):615-8. Epub 2011 Apr 6.
2011
|
| 19 | ATR, DEL3Q2, FOXL2, ZIC1, ZIC4
|
| Dandy-Walker malformation associated with heterozygous ZIC1 and ZIC4 deletion: Report of a new patient.
|
| Tohyama J, Kato M, Kawasaki S, Harada N, Kawara H, Matsui T, Akasaka N, Ohashi T, Kobayashi Y, Matsumoto N.
|
| Am J Med Genet A 155A(1):130-3. doi: 10.1002/ajmg.a.33652. Epub 2010 Dec 10.
2011
|
| 20 | FOXL2, SIRT1
|
| Transcription factor FOXL2 protects granulosa cells from stress and delays cell cycle: role of its regulation by the SIRT1 deacetylase.
|
| Benayoun BA, Georges AB, L'Hôte D, Andersson N, Dipietromaria A, Todeschini AL, Caburet S, Bazin C, Anttonen M, Veitia RA.
|
| Hum Mol Genet 20(9):1673-86. Epub 2011 Feb 2.
2011
|
| 21 | FOXL2
|
| Mutational probing of the forkhead domain of the transcription factor FOXL2 provides insights into the pathogenicity of naturally occurring mutations.
|
| Todeschini AL, Dipietromaria A, L'hôte D, Boucham FZ, Georges AB, Pandaranayaka PJ, Krishnaswamy S, Rivals I, Bazin C, Veitia RA.
|
| Hum Mol Genet 20(17):3376-85. Epub 2011 Jun 1.
2011
|
| 22 | DMRT1, FOXL2, SOX9
|
| DMRT1 prevents female reprogramming in the postnatal mammalian testis.
|
| Matson CK, Murphy MW, Sarver AL, Griswold MD, Bardwell VJ, Zarkower D.
|
| Nature 476(7358):101-4. doi: 10.1038/nature10239. Erratum in: Nature. 2011 Sep 8;477(7363):238.
2011
|
| 23 | BPES, FOXL2
|
| FOXL2 mutations and genomic rearrangements in BPES.
|
| Beysen D, De Paepe A, De Baere E.
|
| Hum Mutat 30(2):158-69.
2009
|
| 24 | FOXL2, SIRT1
|
| Positive and negative feedback regulates the transcription factor FOXL2 in response to cell stress: evidence for a regulatory imbalance induced by disease-causing mutations.
|
| Benayoun BA, Batista F, Auer J, Dipietromaria A, L'Hôte D, De Baere E, Veitia RA.
|
| Hum Mol Genet 18(4):632-44. Epub 2008 Nov 14.
2009
|
| 25 | FOXL2
|
| Functional evidence implicating FOXL2 in non-syndromic premature ovarian failure and in the regulation of the transcription factor OSR2.
|
| Laissue P, Lakhal B, Benayoun BA, Dipietromaria A, Braham R, Elghezal H, Philibert P, Saâd A, Sultan C, Fellous M, Veitia RA.
|
| J Med Genet 46(7):455-7. Epub 2009 May 7.
2009
|
| 26 | FOXL2, STAR, UBE2I
|
| Sumoylation of forkhead L2 by Ubc9 is required for its activity as a transcriptional repressor of the Steroidogenic Acute Regulatory gene.
|
| Kuo FT, Bentsi-Barnes IK, Barlow GM, Bae J, Pisarska MD.
|
| Cell Signal 21(12):1935-44. Epub 2009 Sep 8.PMID: 19744555 2009
|
| 27 | FOXL2
|
| FoxL2 and Smad3 coordinately regulate follistatin gene transcription.
|
| Blount AL, Schmidt K, Justice NJ, Vale WW, Fischer WH, Bilezikjian LM.
|
| J Biol Chem. 284(12):7631-45. 2009
|
| 28 | FOXL2
|
| Somatic sex reprogramming of adult ovaries to testes by FOXL2 ablation.
|
| Uhlenhaut NH, Jakob S, Anlag K, Eisenberger T, Sekido R, Kress J, Treier AC, Klugmann C, Klasen C, Holter NI, Riethmacher D, Schütz G, Cooney AJ, Lovell-Badge R, Treier M.
|
| Cell. 139(6):1130-42. 2009
|
| 29 | FOXL2, FSHB
|
| A novel role for the forkhead transcription factor FOXL2 in activin A-regulated follicle-stimulating hormone beta subunit transcription.
|
| Lamba P, Fortin J, Tran S, Wang Y, Bernard DJ.
|
| Mol Endocrinol 23(7):1001-13. Epub 2009 Mar 26.
2009
|
| 30 | BPES, FOXL2
|
| Missense mutations in the forkhead domain of FOXL2 lead to subcellular mislocalization, protein aggregation and impaired transactivation.
|
| Beysen D, Moumné L, Veitia R, Peters H, Leroy BP, De Paepe A, De Baere E.
|
| Hum Mol Genet 17(13):2030-8. Epub 2008 Mar 27.
2008
|
| 31 | FOXL2
|
| The identification and characterization of a FOXL2 response element provides insights into the pathogenesis of mutant alleles.
|
| Benayoun BA, Caburet S, Dipietromaria A, Bailly-Bechet M, Batista F, Fellous M, Vaiman D, Veitia RA.
|
| Hum Mol Genet 17(20):3118-27. Epub 2008 Jul 16.
2008
|
| 32 | BPES, DEL10PP, DEL13QD, DEL17Q21, DEL18QP, DEL3PD, DUP10QD, DUP16P133, DUP6PD, FOXL2
|
| Identification of copy number variants associated with BPES-like phenotypes.
|
| Gijsbers AC, D'haene B, Hilhorst-Hofstee Y, Mannens M, Albrecht B, Seidel J, Witt DR, Maisenbacher MK, Loeys B, van Essen T, Bakker E, Hennekam R, Breuning MH, De Baere E, Ruivenkamp CA.
|
| Hum Genet 124(5):489-98. Epub 2008 Oct 25. 2008
|
| 33 | BPES, FOXL2
|
| A novel polyalanine expansion in FOXL2: the first evidence for a recessive form of the blepharophimosis syndrome (BPES) associated with ovarian dysfunction.
|
| Nallathambi J, Moumne L, De Baere E, Beysen D, Usha K, Sundaresan P, Veitia RA.
|
| Hum Genet 121(1):107-12. Epub 2006 Nov 7. 2007
|
| 34 | WNT4, FOXL2
|
| Loss of Wnt4 and Foxl2 leads to female-to-male sex reversal extending to germ cells.
|
| Ottolenghi C, Pelosi E, Tran J, Colombino M, Douglass E, Nedorezov T, Cao A, Forabosco A, Schlessinger D.
|
| Hum Mol Genet 16(23):2795-804. Epub 2007 Aug 29. 2007
|
| 35 | FOXL2
|
| FOXL2 in the pituitary: molecular, genetic, and developmental analysis.
|
| Ellsworth BS, Egashira N, Haller JL, Butts DL, Cocquet J, Clay CM, Osamura RY, Camper SA.
|
| Mol Endocrinol 20(11):2796-805. Epub 2006 Jul 13.
2006
|
| 36 | FOXL2, CYP19A1
|
| FOXL2 activates P450 aromatase gene transcription: towards a better characterization of the early steps of mammalian ovarian development.
|
| Pannetier M, Fabre S, Batista F, Kocer A, Renault L, Jolivet G, Mandon-PŽpin B, Cotinot C, Veitia R, Pailhoux E.
|
| J Mol Endocrinol 36(3):399-413. 2006
|
| 37 | CDIPT, FOXL2, PFOXIC, POF3
|
| Ovarian-specific expression of a new gene regulated by the goat PIS region and transcribed by a FOXL2 bidirectional promoter.
|
| Pannetier M, Renault L, Jolivet G, Cotinot C, Pailhoux E.
|
| Genomics 85(6):715-26. 2005
|
| 38 | FOXL2, BPES, POF3
|
| Foxl2 is required for commitment to ovary differentiation.
|
| Ottolenghi C, Omari S, Garcia-Ortiz JE, Uda M, Crisponi L, Forabosco A, Pilia G, Schlessinger D.
|
| Hum Mol Genet 14(14):2053-62. Epub 2005 Jun 8. 2005
|
| 39 | FOXC2, LPDD,FOXC1, FOXE1, FOXE3, FOXL2, FOXN1, FOXP2, FOXP3, YNS
|
| The establishment of a predictive mutational model of the forkhead domain through the analyses of FOXC2 missense mutations identified in patients with hereditary lymphedema with distichiasis.
|
| Berry FB, Tamimi Y, Carle MV, Lehmann OJ, Walter MA.
|
| Hum Mol Genet 14(18):2619-27. Epub 2005 Aug 4. 2005
|
| 40 | BPES, FOXL2, ATR, DEL3Q2
|
| Interstitial deletion in 3q in a patient with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and microcephaly, mild mental retardation and growth delay: clinical report and review of the literature.
|
| de Ru MH, Gille JJ, Nieuwint AW, Bijlsma JB, van der Blij JF, van Hagen JM.
|
| Am J Med Genet A 137(1):81-7. Review. 2005
|
| 41 | BPES, FOXL2
|
| Blepharophimosis and bilateral Duane syndrome associated with a FOXL2 mutation.
|
| Vincent AL, Watkins WJ, Sloan BH, Shelling AN.
|
| Clin Genet 68(6):520-3. 2005
|
| 42 | FOXL2, BPES
|
| Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndrome.
|
| Beysen D, Raes J, Leroy BP, Lucassen A, Yates JR, Clayton-Smith J, Ilyina H, Brooks SS, Christin-Maitre S, Fellous M, Fryns JP, Kim JR, Lapunzina P, Lemyre E, Meire F, Messiaen LM, Oley C, Splitt M, Thomson J, Peer YV, Veitia RA, De Paepe A, De Baere E.
|
| Am J Hum Genet 77(2):205-18. Epub 2005 Jun 16 2005
|
| 43 | FOXL2
|
| Deletions in the polyAlanine-containing transcription factor FOXL2 lead to intranuclear aggregation.
|
| Moumne L, Fellous M, Veitia RA.
|
| Hum Mol Genet 14(23):3557-64. Epub 2005 Oct 11. 2005
|
| 44 | FOXL2
|
| Transcriptional factor FOXL2 interacts with DP103 and induces apoptosis.
|
| Lee K, Pisarska MD, Ko JJ, Kang Y, Yoon S, Ryou SM, Cha KY, Bae J.
|
| Biochem Biophys Res Commun. 336(3):876-81. 2005
|
| 45 | MRPS22, FOXL2, COPB2, ELP4, BPES
|
| FOXL2 inactivation by a translocation 171 kb away: analysis of 500 kb of chromosome 3 for candidate long-range regulatory sequences.
|
| Crisponi L, Uda M, Deiana M, Loi A, Nagaraja R, Chiappe F, Schlessinger D, Cao A, Pilia G.
|
| Genomics 83(5):757-64. 2004
|
| 46 | FOXL2
|
| The human FOXL2 mutation database.
|
| Beysen D, Vandesompele J, Messiaen L, De Paepe A, De Baere E.
|
| Hum Mutat 24(3):189-93. 2004
|
| 47 | FOXL2, BPES
|
| A recurrent polyalanine expansion in the transcription factor FOXL2 induces extensive nuclear and cytoplasmic protein aggregation.
|
| Caburet S, Demarez A, Moumne L, Fellous M, De Baere E, Veitia RA.
|
| J Med Genet 41(12):932-6. 2004
|
| 48 | FOXL2, POF3
|
| Mutations in the coding region of the FOXL2 gene are not a major cause of idiopathic premature ovarian failure.
|
| Bodega B, Porta C, Crosignani PG, Ginelli E, Marozzi A.
|
| Mol Hum Reprod 10(8):555-7. Epub 2004 Jun 4. 2004
|
| 49 | FOXL2
|
| Foxl2 disruption causes mouse ovarian failure by pervasive blockage of follicle development.
|
| Uda M, Ottolenghi C, Crisponi L, Garcia JE, Deiana M, Kimber W, Forabosco A, Cao A, Schlessinger D, Pilia G.
|
| Hum Mol Genet. 13(11):1171-81. 2004
|
| 50 | FOXL2, BPES
|
| Sporadic and familial blepharophimosis -ptosis-epicanthus inversus syndrome: FOXL2 mutation screen and MRI study of the superior levator eyelid muscle
|
| Dollfus H, Stoetzel C, Riehm S, Lahlou Boukoffa W, Bediard Boulaneb F, Quillet R, Abu-Eid M, Speeg-Schatz C, Francfort J, Flament J, Veillon F, Perrin-Schmitt F.
|
| Clin Genet 63(2):117-120. 2003
|
| 51 | BPES, FOXL2, POF3
|
| FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation
|
| De Baere E, Beysen D, Oley C, Lorenz B, Cocquet J, De Sutter P, Devriendt K, Dixon M, Fellous M, Fryns JP, Garza A, Jonsrud C, Koivisto PA, Krause A, Leroy BP, Meire F, Plomp A, Van Maldergem L, De Paepe A, Veitia R, Messiaen L.
|
| Am J Hum Genet 72(2):478-87. 2003
|
| 52 | FOXL2, BPES
|
| Mutational analysis of forkhead transcriptional factor 2 (FOXL2) in Korean patients with blepharophimosis-ptosis-epicanthus inversus syndrome.
|
| Cha SC, Jang YS, Lee JH, Kim HK, Kim SC, Kim S, Baek SH, Jung WS, Kim JR.
|
| Clin Genet 64(6):485-90. 2003
|
| 53 | FOXL2
|
| Structure, evolution and expression of the FOXL2 transcription unit.
|
| Cocquet J, De Baere E, Gareil M, Pannetier M, Xia X, Fellous M, Veitia RA.
|
| Cytogenet Genome Res 101(3-4):206-11. Review. 2003
|
| 54 | PISRT1, FOXL2
|
| Expression studies of the PIS-regulated genes suggest different mechanisms of sex determination within mammals.
|
| Pannetier M, Servel N, Cocquet J, Besnard N, Cotinot C, Pailhoux E.
|
| Cytogenet Genome Res 101(3-4):199-205. Review. 2003
|
| 55 | BPES, FOXL2, POF3
|
| 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.
|
| Kosaki K, Ogata T, Kosaki R, Sato S, Matsuo N.
|
| Ophthalmic Genet 23(1):43-7. 2002
|
| 56 | FOXL2, POF3
|
| Identification of novel mutations in FOXL2 associated with premature ovarian failure.
|
| Harris SE, Chand AL, Winship IM, Gersak K, Aittomaki K, Shelling AN.
|
| Mol Hum Reprod 8(8):729-33. 2002
|
| 57 | BPES, FOXL2, POF3
|
| Mutations in FOXL2 underlying BPES (types 1 and 2) in Colombian families.
|
| Ramirez-Castro JL, Pineda-Trujillo N, Valencia AV, Muneton CM, Botero O, Trujillo O, Vasquez G, Mora BE, Durango N, Bedoya G, Ruiz-Linares A.
|
| Am J Med Genet 113(1):47-51. 2002
|
| 58 | FOXL2
|
| Evolution and expression of FOXL2.
|
| Cocquet J, Pailhoux E, Jaubert F, Servel N, Xia X, Pannetier M, De Baere E, Messiaen L, Cotinot C, Fellous M, Veitia RA.
|
| J Med Genet 39(12):916-21. No abstract available. 2002
|
| 59 | BPES, FOXL2
|
| The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome.
|
| Crisponi L, Deiana M, Loi A, Chiappe F, Uda M, Amati P, Bisceglia L, Zelante L, Nagaraja R, Porcu S, Ristaldi MS, Marzella R, Rocchi M, Nicolino M, Lienhardt-Roussie A, Nivelon A, Verloes A, Schlessinger D, Gasparini P, Bonneau D, Cao A, Pilia G.
|
| Nat Genet 27(2):159-66. 2001
|
| 60 | BPES, FOXL2
|
| Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype--phenotype correlation.
|
| De Baere E, Dixon MJ, Small KW, Jabs EW, Leroy BP, Devriendt K, Gillerot Y, Mortier G, Meire F, Van Maldergem L, Courtens W, Hjalgrim H, Huang S, Liebaers I, Van Regemorter N, Touraine P, Praphanphoj V, Verloes A, Udar N, Yellore V, Chalukya M, Yelchits S, De Paepe A, Kuttenn F, Fellous M, Veitia R, Messiaen L.
|
| Hum Mol Genet 10(15):1591-600. 2001
|
| 61 | FOXL2
|
| Heterozygous 17-bp deletion in the forkhead transcription factor gene, FOXL2, in a Japanese family with blepharophimosis-ptosis-epicanthus inversus syndrome.
|
| Yamada T, Hayasaka S, Matsumoto M, Budu, Esa T, Hayasaka Y, Endo M.
|
| J Hum Genet 46(12):733-6. 2001
|
| 62 | BPES, FOXL2
|
| Further evidence for the location of the BPES gene at 3q2.
|
| de Die-Smulders CE, Engelen JJ, Donk JM, Fryns JP.
|
| J Med Genet 28(10):725. No abstract available. 1991
|