메뉴 건너뛰기




Volumn 19, Issue , 2013, Pages 418-423

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

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID DERIVATIVE; GENOMIC DNA; POLYALANINE; UNCLASSIFIED DRUG;

EID: 84874372303     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (7)

References (14)
  • 1
    • 0023875626 scopus 로고
    • Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES syndrome)
    • [PMID: 3270326]
    • Oley C, Baraitser M. Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES syndrome). J Med Genet 1988; 25:47-51. [PMID: 3270326].
    • (1988) J Med Genet , vol.25 , pp. 47-51
    • Oley, C.1    Baraitser, M.2
  • 2
    • 0020508397 scopus 로고
    • The blepharophimosis, ptosis, and epicanthus inversus syndrome: Delineation of two types
    • [PMID: 6613996]
    • Zlotogora J, Sagi M, Cohen T. The blepharophimosis, ptosis, and epicanthus inversus syndrome: delineation of two types. Am J Hum Genet 1983; 35:1020-7. [PMID: 6613996].
    • (1983) Am J Hum Genet , vol.35 , pp. 1020-1027
    • Zlotogora, J.1    Sagi, M.2    Cohen, T.3
  • 5
    • 78650032774 scopus 로고    scopus 로고
    • FOXL2 mutations in Chinese families with Blepharophimosis syndrome (BPES)
    • PMID: 2114 615 0
    • Fan JY, Wang YF, Han B, Ji YR, Song HD, Fan XQ. FOXL2 mutations in Chinese families with Blepharophimosis syndrome (BPES). Transl Res 2011; 157:48-52. [PMID: 2114 615 0].
    • (2011) Transl Res , vol.157 , pp. 48-52
    • Fan, J.Y.1    Wang, Y.F.2    Han, B.3    Ji, Y.R.4    Song, H.D.5    Fan, X.Q.6
  • 6
    • 59749101082 scopus 로고    scopus 로고
    • FOXL2 Mutations and genomic rearrangements in BPES
    • PMID: 18726931
    • De Baere E, De Paepe A, Beysen D. FOXL2 Mutations and genomic rearrangements in BPES. Hum Mutat 2009; 30:158-169. [PMID: 18726931].
    • (2009) Hum Mutat , vol.30 , pp. 158-169
    • De Baere, E.1    De Paepe, A.2    Beysen, D.3
  • 8
    • 20444365482 scopus 로고    scopus 로고
    • Premature ovarian failure and forkhead transcription factor FOXL2: Blepharophimosisptosis-epicanthus inversus syndrome and ovarian dysfunction
    • PMID: 16208278
    • De Baere E, Copelli S, Caburet S, Laissue P, Beysen D, Christin-Maitre S, Bouchard P, Veitia R, Fellous M. Premature ovarian failure and forkhead transcription factor FOXL2: blepharophimosisptosis-epicanthus inversus syndrome and ovarian dysfunction. Pediatr Endocrinol Rev 2005; 2:653-660. [PMID: 16208278].
    • (2005) Pediatr Endocrinol Rev , vol.2 , pp. 653-660
    • De Baere, E.1    Copelli, S.2    Caburet, S.3    Laissue, P.4    Beysen, D.5    Christin-Maitre, S.6    Bouchard, P.7    Veitia, R.8    Fellous, M.9
  • 9
    • 0035871514 scopus 로고    scopus 로고
    • FoxD5a, a Xenopus winged helix gene, maintains an immature neural ectoderm via transcriptional repression that is dependent on the C-terminal domain
    • PMID: 11401404
    • Sullivan SA, Akers L, Moody SA. foxD5a, a Xenopus winged helix gene, maintains an immature neural ectoderm via transcriptional repression that is dependent on the C-terminal domain. Dev Biol 2001; 232:439-457. [PMID: 114 014 0 4].
    • (2001) Dev Biol , vol.232 , pp. 439-457
    • Sullivan, S.A.1    Akers, L.2    Moody, S.A.3
  • 11
    • 10844222804 scopus 로고    scopus 로고
    • A recurrent polyalanine expansion in the transcription factor FOXL2 induces extensive nuclear and cytoplasmic protein aggregation
    • PMID: 15591279
    • Caburet S, Demarez A, Moumné L, Fellous M, De Baere E, Veitia RA. A recurrent polyalanine expansion in the transcription factor FOXL2 induces extensive nuclear and cytoplasmic protein aggregation. J Med Genet 2004; 41:932-6. [PMID: 15591279].
    • (2004) J Med Genet , vol.41 , pp. 932-936
    • Caburet, S.1    Demarez, A.2    Moumné, L.3    Fellous, M.4    De Baere, E.5    Veitia, R.A.6
  • 12
    • 41149124043 scopus 로고    scopus 로고
    • Differential aggregation and functional impairment induced by polyalanine expansions in FOXL2, a transcription factor involved in cranio-facial and ovarian development
    • PMID: 18158309
    • Moumné L, Dipietromaria A, Batista F, Kocer A, Fellous M, Pailhoux E, Veitia RA. 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; 17:1010-1019. [PMID: 18158309].
    • (2008) Hum Mol Genet , vol.17 , pp. 1010-1019
    • Moumné, L.1    Dipietromaria, A.2    Batista, F.3    Kocer, A.4    Fellous, M.5    Pailhoux, E.6    Veitia, R.A.7
  • 13
    • 0041778256 scopus 로고    scopus 로고
    • FOXL2-mutations in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES); challenges for genetic counseling in female patients
    • PMID: 12567411
    • Fokstuen S, Antonarakis SE, Blouin JL. FOXL2-mutations in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES); challenges for genetic counseling in female patients. Am J Med Genet A 2003; 117A:143-146. [PMID: 12567411].
    • (2003) Am J Med Genet A , vol.117 A , pp. 143-146
    • Fokstuen, S.1    Antonarakis, S.E.2    Blouin, J.L.3
  • 14
    • 0036210317 scopus 로고    scopus 로고
    • 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 tion in the development of the ovary and the eyelid
    • PMID: 11910558
    • 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 tion in the development of the ovary and the eyelid. Ophthalmic Genet 2002; 23:43-7. [PMID: 11910558].
    • (2002) Ophthalmic Genet , vol.23 , pp. 43-47
    • Kosaki, K.1    Ogata, T.2    Kosaki, R.3    Sato, S.4    Matsuo, N.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.