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Items: 18

1.
Clinical and genetic studies of 17 Han Chinese pedigrees and 31 sporadic patients with blepharophimosis-ptosis-epicanthus inversus syndrome
Yuan Wang, Qian Wu, Wenhong Cao, Lijuan Huang, Wen Liu, Cheng Li, Ningdong Li
Mol Vis. 2022; 28: 352–358. Published online 2022 Oct 6.
PMCID:
PMC9603904
AbstractArticlePDF–971K
2.
Premature ovarian insufficiency as a variable feature of blepharophimosis, ptosis, and epicanthus inversus syndrome associated with c.223C > T p.(Leu75Phe) FOXL2 mutation: a case report
Barbara Grzechocińska, Damian Warzecha, Maria Wypchło, Rafal Ploski, Mirosław Wielgoś
BMC Med Genet. 2019; 20: 132. Published online 2019 Jul 31. doi: 10.1186/s12881-019-0865-0
PMCID:
PMC6670140
AbstractArticlePDF–1.1M
3.
Synergistic Activation of the Mc2r Promoter by FOXL2 and NR5A1 in Mice
Wei-Hsiung Yang, Ninoska M. Gutierrez, Lizhong Wang, Buffy S. Ellsworth, Chiung-Min Wang
Biol Reprod. 2010 Nov 1; 83(5): 842–851. doi: 10.1095/biolreprod.110.085621
PMCID:
PMC6322431
AbstractArticlePDF–411K
4.
Functional study on new FOXL2 mutations found in Chinese patients with blepharophimosis, ptosis, epicanthus inversus syndrome
Lu Zhou, Jiaqi Wang, Tailing Wang
BMC Med Genet. 2018; 19: 121. Published online 2018 Jul 20. doi: 10.1186/s12881-018-0631-8
PMCID:
PMC6053710
AbstractArticlePDF–1.7M
5.
Functional Analysis of a Novel FOXL2 Indel Mutation in Chinese Families with Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Type I
Peiwei Chai, Fang Li, Jiayan Fan, Ruobin Jia, He Zhang, Xianqun Fan
Int J Biol Sci. 2017; 13(8): 1019–1028. Published online 2017 Jul 18. doi: 10.7150/ijbs.19532
PMCID:
PMC5599907
AbstractArticlePDF–1.4M
6.
FOXL2 Interacts with Steroidogenic Factor-1 (SF-1) and Represses SF-1-Induced CYP17 Transcription in Granulosa Cells
Mira Park, Eunkyoung Shin, Miae Won, Jae-Hong Kim, Hayoung Go, Hyun-Lee Kim, Jeong-Jae Ko, Kangseok Lee, Jeehyeon Bae
Mol Endocrinol. May 1, 2010; 24(5): 1024–1036. doi: 10.1210/me.2009-0375
PMCID:
PMC5417491
AbstractArticle
7.
Novel FOXL2 mutations in two Chinese families with blepharophimosis-ptosis-epicanthus inversus syndrome
Min Xue, Jie Zheng, Qing Zhou, J. Fielding Hejtmancik, Yuan Wang, Shouling Li
BMC Med Genet. 2015; 16: 73. Published online 2015 Sep 1. doi: 10.1186/s12881-015-0217-7
PMCID:
PMC4593235
AbstractArticlePDF–1.2M
8.
FOXL2 modulates cartilage, skeletal development and IGF1-dependent growth in mice
Mara Marongiu, Loredana Marcia, Emanuele Pelosi, Mario Lovicu, Manila Deiana, Yonqing Zhang, Alessandro Puddu, Angela Loi, Manuela Uda, Antonino Forabosco, David Schlessinger, Laura Crisponi
BMC Dev Biol. 2015; 15: 27. Published online 2015 Jul 2. doi: 10.1186/s12861-015-0072-y
PMCID:
PMC4489133
AbstractArticlePDF–3.2M
9.
FOXL2 suppresses proliferation, invasion and promotes apoptosis of cervical cancer cells
Xing-Long Liu, Yu-Han Meng, Jian-Li Wang, Biao-Bing Yang, Fan Zhang, Sheng-Jian Tang
Int J Clin Exp Pathol. 2014; 7(4): 1534–1543. Published online 2014 Mar 15.
PMCID:
PMC4014233
AbstractArticlePDF–1.0M
10.
Differential Apoptotic and Proliferative Activities of Wild-type FOXL2 and Blepharophimosis-ptosis-epicanthus Inversus Syndrome (BPES)-associated Mutant FOXL2 Proteins
Jae-Hong KIM, Jeehyeon BAE
J Reprod Dev. 2014 Feb; 60(1): 14–20. Published online 2013 Nov 15. doi: 10.1262/jrd.2013-090
PMCID:
PMC3958583
AbstractArticlePDF–1.5M
11.
Missense mutation outside the forkhead domain of FOXL2 causes a severe form of BPES type II
Alireza Haghighi, Hannah Verdin, Hamidreza Haghighi-Kakhki, Niloofar Piri, Nasrollah Saleh Gohari, Elfride De Baere
Mol Vis. 2012; 18: 211–218. Published online 2012 Jan 26.
PMCID:
PMC3272052
AbstractArticlePDF–3.0M
12.
Genetic analysis of the FOXL2 gene using quantitative real-time PCR in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome
Shanshan Hu, Junjing Guo, Binbin Wang, Jing Wang, Zhou Zhou, Guangkai Zhou, Xuchen Ding, Xu Ma, Yanhua Qi
Mol Vis. 2011; 17: 436–442. Published online 2011 Feb 9.
PMCID:
PMC3038209
AbstractArticlePDF–2.4M
13.
LATS1 phosphorylates forkhead L2 and regulates its transcriptional activity
Margareta D. Pisarska, Fang-Ting Kuo, Ikuko K. Bentsi-Barnes, Salma Khan, Gillian M. Barlow
Am J Physiol Endocrinol Metab. 2010 Jul; 299(1): E101–E109. Published online 2010 Apr 20. doi: 10.1152/ajpendo.00534.2009
PMCID:
PMC2904049
AbstractArticle
14.
Human Forkhead L2 Represses Key Genes in Granulosa Cell Differentiation Including Aromatase, P450scc, and Cyclin D2
Ikuko K. Bentsi-Barnes, Fang-Ting Kuo, Gillian M. Barlow, Margareta D. Pisarska
Fertil Steril. Author manuscript; available in PMC 2011 Jun 1.
Published in final edited form as: Fertil Steril. 2010 Jun; 94(1): 353–356. Published online 2009 Nov 14. doi: 10.1016/j.fertnstert.2009.09.050
PMCID:
PMC2876195
AbstractArticlePDF–140K
15.
FoxL2 and Smad3 Coordinately Regulate Follistatin Gene Transcription
Amy L. Blount, Karsten Schmidt, Nicholas J. Justice, Wylie W. Vale, Wolfgang H. Fischer, Louise M. Bilezikjian
J Biol Chem. 2009 Mar 20; 284(12): 7631–7645. doi: 10.1074/jbc.M806676200
PMCID:
PMC2658057
AbstractArticlePDF–1.6M
16.
FOXL2 mutations in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome
Juan Wang, Jinling Liu, Qingjiong Zhang
Mol Vis. 2007; 13: 108–113. Published online 2007 Jan 26.
PMCID:
PMC2533039
AbstractArticlePDF–344K
17.
Potential targets of FOXL2, a transcription factor involved in craniofacial and follicular development, identified by transcriptomics
Frank Batista, Daniel Vaiman, Jean Dausset, Marc Fellous, Reiner A. Veitia
Proc Natl Acad Sci U S A. 2007 Feb 27; 104(9): 3330–3335. Published online 2007 Feb 20. doi: 10.1073/pnas.0611326104
PMCID:
PMC1805535
AbstractArticlePDF–906K
18.
A novel case of unilateral blepharophimosis syndrome and mental retardation associated with de novo trisomy for chromosome 3q.
T Cai, D A Tagle, X Xia, P Yu, X X He, L Y Li, J H Xia
J Med Genet. 1997 Sep; 34(9): 772–776. doi: 10.1136/jmg.34.9.772
PMCID:
PMC1051066
SummaryPage BrowsePDF–1.2M

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