322 related articles for article (PubMed ID: 18372316)
1. 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; 17(13):2030-8. PubMed ID: 18372316
[TBL] [Abstract][Full Text] [Related]
2. 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; 18(17):3324-33. PubMed ID: 19515849
[TBL] [Abstract][Full Text] [Related]
3. 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. PubMed ID: 21068205
[TBL] [Abstract][Full Text] [Related]
4. 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. PubMed ID: 18484667
[TBL] [Abstract][Full Text] [Related]
5. 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; 20(17):3376-85. PubMed ID: 21632871
[TBL] [Abstract][Full Text] [Related]
6. 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. PubMed ID: 22926839
[TBL] [Abstract][Full Text] [Related]
7. 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. PubMed ID: 15300845
[TBL] [Abstract][Full Text] [Related]
8. Identification of 34 novel and 56 known FOXL2 mutations in patients with Blepharophimosis syndrome.
Beysen D; De Jaegere S; Amor D; Bouchard P; Christin-Maitre S; Fellous M; Touraine P; Grix AW; Hennekam R; Meire F; Oyen N; Wilson LC; Barel D; Clayton-Smith J; de Ravel T; Decock C; Delbeke P; Ensenauer R; Ebinger F; Gillessen-Kaesbach G; Hendriks Y; Kimonis V; Laframboise R; Laissue P; Leppig K; Leroy BP; Miller DT; Mowat D; Neumann L; Plomp A; Van Regemorter N; Wieczorek D; Veitia RA; De Paepe A; De Baere E
Hum Mutat; 2008 Nov; 29(11):E205-19. PubMed ID: 18642388
[TBL] [Abstract][Full Text] [Related]
9. FOXL2 mutations and genomic rearrangements in BPES.
Beysen D; De Paepe A; De Baere E
Hum Mutat; 2009 Feb; 30(2):158-69. PubMed ID: 18726931
[TBL] [Abstract][Full Text] [Related]
10. FOXL2 mutations lead to different ovarian phenotypes in BPES patients: Case Report.
Méduri G; Bachelot A; Duflos C; Bständig B; Poirot C; Genestie C; Veitia R; De Baere E; Touraine P
Hum Reprod; 2010 Jan; 25(1):235-43. PubMed ID: 19819892
[TBL] [Abstract][Full Text] [Related]
11. 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; 282(1-2):2-11. PubMed ID: 18155828
[TBL] [Abstract][Full Text] [Related]
12. Foxl2 function in ovarian development.
Uhlenhaut NH; Treier M
Mol Genet Metab; 2006 Jul; 88(3):225-34. PubMed ID: 16647286
[TBL] [Abstract][Full Text] [Related]
13. Deletions in the polyAlanine-containing transcription factor FOXL2 lead to intranuclear aggregation.
Moumné L; Fellous M; Veitia RA
Hum Mol Genet; 2005 Dec; 14(23):3557-64. PubMed ID: 16219626
[TBL] [Abstract][Full Text] [Related]
14. Mutation analysis of the FOXL2 gene in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome.
Tang S; Wang X; Lin L; Sun Y; Wang Y; Yu H
Mutagenesis; 2006 Jan; 21(1):35-9. PubMed ID: 16394030
[TBL] [Abstract][Full Text] [Related]
15. A recurrent polyalanine expansion in the transcription factor FOXL2 induces extensive nuclear and cytoplasmic protein aggregation.
Caburet S; Demarez A; Moumné L; Fellous M; De Baere E; Veitia RA
J Med Genet; 2004 Dec; 41(12):932-6. PubMed ID: 15591279
[TBL] [Abstract][Full Text] [Related]
16. 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. PubMed ID: 19969293
[TBL] [Abstract][Full Text] [Related]
17. 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. PubMed ID: 22312189
[TBL] [Abstract][Full Text] [Related]
18. 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; 17(7):1010-9. PubMed ID: 18158309
[TBL] [Abstract][Full Text] [Related]
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; 18(4):632-44. PubMed ID: 19010791
[TBL] [Abstract][Full Text] [Related]
20. 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. PubMed ID: 19429596
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
