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Results: 1 to 20 of 103

1.

SUMOylation of the Forkhead transcription factor FOXL2 promotes its stabilization/activation through transient recruitment to PML bodies.

Georges A, Benayoun BA, Marongiu M, Dipietromaria A, L'Hôte D, Todeschini AL, Auer J, Crisponi L, Veitia RA.

PLoS One. 2011;6(10):e25463. doi: 10.1371/journal.pone.0025463. Epub 2011 Oct 12.

PMID:
22022399
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

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. 2008 Jul 1;17(13):2030-8. doi: 10.1093/hmg/ddn100. Epub 2008 Mar 27.

PMID:
18372316
[PubMed - indexed for MEDLINE]
Free Article
3.

Towards a functional classification of pathogenic FOXL2 mutations using transactivation reporter systems.

Dipietromaria A, Benayoun BA, Todeschini AL, Rivals I, Bazin C, Veitia RA.

Hum Mol Genet. 2009 Sep 1;18(17):3324-33. doi: 10.1093/hmg/ddp273. Epub 2009 Jun 10.

PMID:
19515849
[PubMed - indexed for MEDLINE]
Free Article
4.

The forkhead transcription factor Foxl2 is sumoylated in both human and mouse: sumoylation affects its stability, localization, and activity.

Marongiu M, Deiana M, Meloni A, Marcia L, Puddu A, Cao A, Schlessinger D, Crisponi L.

PLoS One. 2010 Mar 2;5(3):e9477. doi: 10.1371/journal.pone.0009477.

PMID:
20209145
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

The combination of polyalanine expansion mutation and a novel missense substitution in transcription factor FOXL2 leads to different ovarian phenotypes in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) patients.

Fan J, Zhou Y, Huang X, Zhang L, Yao Y, Song X, Chen J, Hu J, Ge S, Song H, Fan X.

Hum Reprod. 2012 Nov;27(11):3347-57. doi: 10.1093/humrep/des306. Epub 2012 Aug 27.

PMID:
22926839
[PubMed - indexed for MEDLINE]
Free Article
6.

The transcription factor FOXL2: at the crossroads of ovarian physiology and pathology.

Caburet S, Georges A, L'Hôte D, Todeschini AL, Benayoun BA, Veitia RA.

Mol Cell Endocrinol. 2012 Jun 5;356(1-2):55-64. doi: 10.1016/j.mce.2011.06.019. Epub 2011 Jul 8. Review.

PMID:
21763750
[PubMed - indexed for MEDLINE]
7.

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. 2009 Dec;21(12):1935-44. doi: 10.1016/j.cellsig.2009.09.001. Epub 2009 Sep 8.

PMID:
19744555
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Functional study on a novel missense mutation of the transcription factor FOXL2 causes blepharophimosis-ptosis-epicanthus inversus syndrome (BPES).

Fan JY, Han B, Qiao J, Liu BL, Ji YR, Ge SF, Song HD, Fan XQ.

Mutagenesis. 2011 Mar;26(2):283-9. doi: 10.1093/mutage/geq086. Epub 2010 Nov 10.

PMID:
21068205
[PubMed - indexed for MEDLINE]
Free Article
9.

Differential functional effects of novel mutations of the transcription factor FOXL2 in BPES patients.

Nallathambi J, Laissue P, Batista F, Benayoun BA, Lesaffre C, Moumné L, Pandaranayaka PE, Usha K, Krishnaswamy S, Sundaresan P, Veitia RA.

Hum Mutat. 2008 Aug;29(8):E123-31. doi: 10.1002/humu.20809.

PMID:
18484667
[PubMed - indexed for MEDLINE]
10.

Discovery of novel protein partners of the transcription factor FOXL2 provides insights into its physiopathological roles.

L'Hôte D, Georges A, Todeschini AL, Kim JH, Benayoun BA, Bae J, Veitia RA.

Hum Mol Genet. 2012 Jul 15;21(14):3264-74. doi: 10.1093/hmg/dds170. Epub 2012 Apr 27.

PMID:
22544055
[PubMed - indexed for MEDLINE]
Free Article
11.

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. 2001 Jul 15;10(15):1591-600.

PMID:
11468277
[PubMed - indexed for MEDLINE]
Free Article
12.

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. 2009 Jul;46(7):455-7. doi: 10.1136/jmg.2008.065086. Epub 2009 May 7.

PMID:
19429596
[PubMed - indexed for MEDLINE]
13.

Genetic analysis of the forkhead transcriptional factor 2 gene in three Chinese families with blepharophimosis syndrome.

Jiang H, Huang X, Su Z, Rao L, Wu S, Zhang T, Li K, Quan Q, Zhang K.

Mol Vis. 2013;19:418-23. Epub 2013 Feb 20.

PMID:
23441113
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

A novel polyalanine expansion in FOXL2: the first evidence for a recessive form of the blepharophimosis syndrome (BPES) associated with ovarian dysfunction.

Nallathambi J, Moumné L, De Baere E, Beysen D, Usha K, Sundaresan P, Veitia RA.

Hum Genet. 2007 Mar;121(1):107-12. Epub 2006 Nov 7.

PMID:
17089161
[PubMed - indexed for MEDLINE]
15.

Missense mutation outside the forkhead domain of FOXL2 causes a severe form of BPES type II.

Haghighi A, Verdin H, Haghighi-Kakhki H, Piri N, Gohari NS, De Baere E.

Mol Vis. 2012;18:211-8. Epub 2012 Jan 26.

PMID:
22312189
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Premature ovarian failure and forkhead transcription factor FOXL2: blepharophimosis-ptosis-epicanthus inversus syndrome and ovarian dysfunction.

De Baere E, Copelli S, Caburet S, Laissue P, Beysen D, Christin-Maitre S, Bouchard P, Veitia R, Fellous M.

Pediatr Endocrinol Rev. 2005 Jun;2(4):653-60. Review.

PMID:
16208278
[PubMed - indexed for MEDLINE]
17.

A new FOXL2 gene mutation in a woman with premature ovarian failure and sporadic blepharophimosis-ptosis-epicanthus inversus syndrome.

Corrêa FJ, Tavares AB, Pereira RW, Abrão MS.

Fertil Steril. 2010 Feb;93(3):1006.e3-6. doi: 10.1016/j.fertnstert.2009.08.034. Epub 2009 Dec 6.

PMID:
19969293
[PubMed - indexed for MEDLINE]
18.

Foxl2 function in ovarian development.

Uhlenhaut NH, Treier M.

Mol Genet Metab. 2006 Jul;88(3):225-34. Epub 2006 May 2. Review.

PMID:
16647286
[PubMed - indexed for MEDLINE]
19.

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. 2009 Feb 15;18(4):632-44. doi: 10.1093/hmg/ddn389. Epub 2008 Nov 14.

PMID:
19010791
[PubMed - indexed for MEDLINE]
Free Article
20.

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. 2011 Sep 1;20(17):3376-85. doi: 10.1093/hmg/ddr244. Epub 2011 Jun 1.

PMID:
21632871
[PubMed - indexed for MEDLINE]
Free Article

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