PMC Articles for MedGen (Select 419345) - PMC

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Select item 79985751.

The Genetic and Clinical Features of FOXL2-Related Blepharophimosis, Ptosis and Epicanthus Inversus Syndrome

Cécile Méjécase, Chandni Nigam, Mariya Moosajee, John C. Bladen

Genes (Basel) 2021 Mar; 12(3): 364. Published online 2021 Mar 4. doi: 10.3390/genes12030364

PMCID:: PMC7998575

Select item 66701402.

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

Abstract Article PDF–1.1M

Select item 32720523.

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

Abstract Article PDF–3.0M

Select item 107496744.

Deletion of cis-regulatory Element in FOXL2 Promoter in a Chinese Family of Type II Blepharophimosis-ptosis-epicanthus Inversus Syndrome with Polydactyly

Qin Shen, Xiaojun Zhao, Yongrong Ji, Peiwei Chai

J Craniofac Surg. 2024 Jan-Feb; 35(1): e52–e56. Published online 2023 Nov 8. doi: 10.1097/SCS.0000000000009801

PMCID:: PMC10749674

Abstract Article PDF–411K

Select item 106290095.

Expanded phenotypic spectrum of FOXL2 Variant c.672_701dup revealed by whole-exome sequencing in a rare blepharophimosis, ptosis, and epicanthus inversus syndrome family

Zhi-Bo Lin, Zhen-Ji Chen, Hui Yang, Xing-Ru Ding, Jin Li, An-Peng Pan, Hai-Sen Sun, A.-Yong Yu, Shi-Hao Chen

BMC Ophthalmol. 2023; 23: 446. Published online 2023 Nov 7. doi: 10.1186/s12886-023-03189-5

PMCID:: PMC10629009

Abstract Article PDF–1.5M

Select item 96039046.

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

Abstract Article PDF–971K

Select item 70006347.

A novel FOXL2 mutation in two infertile patients with blepharophimosis–ptosis–epicanthus inversus syndrome

Jingmei Hu, Hanni Ke, Wei Luo, Yajuan Yang, Hongli Liu, Guangyu Li, Yingying Qin, Jinlong Ma, Shidou Zhao

J Assist Reprod Genet. 2020 Jan; 37(1): 223–229. Published online 2019 Dec 10. doi: 10.1007/s10815-019-01651-2

PMCID:: PMC7000634

Abstract Article PDF–1.5M

Select item 60537108.

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

Abstract Article PDF–1.7M

Select item 55999079.

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

Abstract Article PDF–1.4M

Select item 541749110.

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

Abstract Article

Select item 494494811.

FOXL2 Is an Essential Activator of SF-1-Induced Transcriptional Regulation of Anti-Müllerian Hormone in Human Granulosa Cells

Hanyong Jin, Miae Won, Si Eun Park, Seunghwa Lee, Mira Park, Jeehyeon Bae

PLoS One. 2016; 11(7): e0159112. Published online 2016 Jul 14. doi: 10.1371/journal.pone.0159112

PMCID:: PMC4944948

Abstract Article PDF–2.8M

Select item 459323512.

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

Abstract Article PDF–1.2M

Select item 448913313.

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

Abstract Article PDF–3.2M

Select item 401423314.

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

Abstract Article PDF–1.0M

Select item 395858315.

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

Abstract Article PDF–1.5M

Select item 359751716.

Microhomology-Mediated Mechanisms Underlie Non-Recurrent Disease-Causing Microdeletions of the FOXL2 Gene or Its Regulatory Domain

Hannah Verdin, Barbara D'haene, Diane Beysen, Yana Novikova, Björn Menten, Tom Sante, Pablo Lapunzina, Julian Nevado, Claudia M. B. Carvalho, James R. Lupski, Elfride De Baere

PLoS Genet. 2013 Mar; 9(3): e1003358. Published online 2013 Mar 14. doi: 10.1371/journal.pgen.1003358

PMCID:: PMC3597517

Abstract Article PDF–1.2M

Select item 358097317.

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

Haiou Jiang, Xueshuang Huang, Zhiguang Su, Libing Rao, Sisi Wu, Ting Zhang, Kang Li, Qingli Quan, Kang Zhang

Mol Vis. 2013; 19: 418–423. Published online 2013 Feb 20.

PMCID:: PMC3580973

Abstract Article PDF–972K

Select item 319204018.

SUMOylation of the Forkhead Transcription Factor FOXL2 Promotes Its Stabilization/Activation through Transient Recruitment to PML Bodies

Adrien Georges, Bérénice A. Benayoun, Mara Marongiu, Aurélie Dipietromaria, David L'Hôte, Anne-Laure Todeschini, Jana Auer, Laura Crisponi, Reiner A. Veitia

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