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Results: 1 to 20 of 86

1.

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
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.

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]
4.

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
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.

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
7.

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
8.

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]
9.

Differential aggregation and functional impairment induced by polyalanine expansions in FOXL2, a transcription factor involved in cranio-facial and ovarian development.

Moumné L, Dipietromaria A, Batista F, Kocer A, Fellous M, Pailhoux E, Veitia RA.

Hum Mol Genet. 2008 Apr 1;17(7):1010-9. Epub 2007 Dec 24.

PMID:
18158309
[PubMed - indexed for MEDLINE]
Free Article
10.

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
11.

FOXL2 gene mutations and blepharophimosis-ptosis-epicanthus inversus syndrome (BPES): a novel mutation detected in a Chinese family and a statistic model for summarizing previous reported records.

Xu Y, Lei H, Dong H, Zhang L, Qin Q, Gao J, Zou Y, Yan X.

Mutagenesis. 2009 Sep;24(5):447-53. doi: 10.1093/mutage/gep028. Epub 2009 Jul 10.

PMID:
19592504
[PubMed - indexed for MEDLINE]
Free Article
12.

The human FOXL2 mutation database.

Beysen D, Vandesompele J, Messiaen L, De Paepe A, De Baere E.

Hum Mutat. 2004 Sep;24(3):189-93.

PMID:
15300845
[PubMed - indexed for MEDLINE]
13.

The mutations and potential targets of the forkhead transcription factor FOXL2.

Moumné L, Batista F, Benayoun BA, Nallathambi J, Fellous M, Sundaresan P, Veitia RA.

Mol Cell Endocrinol. 2008 Jan 30;282(1-2):2-11. Epub 2007 Nov 19. Review.

PMID:
18155828
[PubMed - indexed for MEDLINE]
14.

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. 2008 Oct 15;17(20):3118-27. doi: 10.1093/hmg/ddn209. Epub 2008 Jul 16.

PMID:
18635577
[PubMed - indexed for MEDLINE]
Free Article
15.

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
16.

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
17.

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. 2003 Feb;72(2):478-87. Epub 2003 Jan 14.

PMID:
12529855
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

FOXL2-mutations in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES); challenges for genetic counseling in female patients.

Fokstuen S, Antonarakis SE, Blouin JL.

Am J Med Genet A. 2003 Mar 1;117A(2):143-6.

PMID:
12567411
[PubMed - indexed for MEDLINE]
19.

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
20.

Mutations of the transcription factor FOXL2 gene in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome.

Li D, Zeng W, Tao J, Li S, Liang C, Chen X, Mu W, Wang X, Qin Y, Jie Y, Wei W.

Genet Test Mol Biomarkers. 2009 Apr;13(2):257-68. doi: 10.1089/gtmb.2008.0121.

PMID:
19371227
[PubMed - indexed for MEDLINE]

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