PMC Links for Gene (Select 668) - PMC

Anne Kristin Fischer, Birgid Schömig-Markiefka, Carina Heydt, Dominik Ratiu, Peter Mallmann, Jörn Meinel, Reinhard Büttner, Dietmar Schmidt, Alexander Quaas

Virchows Arch. 2023; 483(1): 117–124. Published online 2022 Nov 18. doi: 10.1007/s00428-022-03452-y

PMCID:: PMC10326121

Abstract Article PDF–2.2M

Select item 82783224.

Mutant FOXL2^C134W highjacks SMAD4 and SMAD2/3 to drive adult granulosa cell tumors

Stine E. Weis-Banke, Mads Lerdrup, Daniela Kleine-Kohlbrecher, Faizaan Mohammad, Simone Sidoli, Ole N. Jensen, Toshihiko Yanase, Tomoko Nakamura, Akira Iwase, Anthe Stylianou, Nadeem R. Abu-Rustum, Carol Aghajanian, Robert Soslow, Arnaud Da Cruz Paula, Richard P. Koche, Britta Weigelt, Jesper Christensen, Kristian Helin, Paul A.C. Cloos

Cancer Res. Author manuscript; available in PMC 2021 Jul 14.

Published in final edited form as: Cancer Res. 2020 Sep 1; 80(17): 3466–3479. Published online 2020 Jul 8. doi: 10.1158/0008-5472.CAN-20-0259

PMCID:: PMC8278322

Abstract Article PDF–2.5M

Select item 80729965.

Adult‐type granulosa cell tumor of the ovary: a FOXL2‐centric disease

Jessica A Pilsworth, Dawn R Cochrane, Samantha J Neilson, Bahar H Moussavi, Daniel Lai, Aslı D Munzur, Janine Senz, Yi Kan Wang, Sina Zareian, Ali Bashashati, Adele Wong, Jacqueline Keul, Annette Staebler, Hannah S van Meurs, Hugo M Horlings, Stefan Kommoss, Friedrich Kommoss, Esther Oliva, Anniina EM Färkkilä, Blake Gilks, David G Huntsman

J Pathol Clin Res. 2021 May; 7(3): 243–252. Published online 2021 Jan 11. doi: 10.1002/cjp2.198

PMCID:: PMC8072996

Abstract Article PDF–629K

Select item 80079136.

Functional Studies of Novel FOXL2 Variants in Chinese Families With Blepharophimosis–Ptosis–Epicanthus Inversus Syndrome

Fang Li, Huifang Chen, Yefei Wang, Jie Yang, Yixiong Zhou, Xin Song, Jiayan Fan

Front Genet. 2021; 12: 616112. Published online 2021 Mar 16. doi: 10.3389/fgene.2021.616112

PMCID:: PMC8007913

Abstract Article PDF–3.3M

Select item 79985757.

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

Abstract Article PDF–781K

Select item 74551398.

Ovarian granulosa cell tumor characterization identifies FOXL2 as an immunotherapeutic target

Stefano Pierini, Janos L. Tanyi, Fiona Simpkins, Erin George, Mireia Uribe-Herranz, Ronny Drapkin, Robert Burger, Mark A. Morgan, Andrea Facciabene

JCI Insight. 2020 Aug 20; 5(16): e136773. Published online 2020 Aug 20. doi: 10.1172/jci.insight.136773

PMCID:: PMC7455139

Abstract Article PDF–7.4M

Select item 71816089.

FOXL2 directs DNA double-strand break repair pathways by differentially interacting with Ku

Hanyong Jin, Boeun Lee, Yongyang Luo, Yuri Choi, Eui-Hwan Choi, Hong Jin, Kee-Beom Kim, Sang Beom Seo, Yong-Hak Kim, Hyung Ho Lee, Keun Pil Kim, Kangseok Lee, Jeehyeon Bae

Nat Commun. 2020; 11: 2010. Published online 2020 Apr 24. doi: 10.1038/s41467-020-15748-1

PMCID:: PMC7181608

Abstract Article PDF–4.8M

Select item 700063410.

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 667014011.

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 623815112.

FOXL2^C134W-Induced CYP19 Expression via Cooperation With SMAD3 in HGrC1 Cells

Martina Belli, Nahoko Iwata, Tomoko Nakamura, Akira Iwase, Dwayne Stupack, Shunichi Shimasaki

Endocrinology. 2018 Apr; 159(4): 1690–1703. Published online 2018 Feb 19. doi: 10.1210/en.2017-03207

PMCID:: PMC6238151

Abstract Article

Select item 605371013.

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 590239314.

Novel FOXL2 mutations cause blepharophimosis‐ptosis‐epicanthus inversus syndrome with premature ovarian insufficiency

Xiao‐Wen Yang, Wen‐Bin He, Fei Gong, Wen Li, Xiu‐Rong Li, Chang‐Gao Zhong, Guang‐Xiu Lu, Ge Lin, Juan Du, Yue‐Qiu Tan

Mol Genet Genomic Med. 2018 Mar; 6(2): 261–267. Published online 2018 Jan 29. doi: 10.1002/mgg3.366

PMCID:: PMC5902393

Abstract Article PDF–1.5M

Select item 559990715.

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 546463816.

Clinical and genetic analysis of recurrent adult-type granulosa cell tumor of the ovary: Persistent preservation of heterozygous c.402C>G FOXL2 mutation

Satoshi Yanagida, Michael S. Anglesio, Tayyebeh M. Nazeran, Amy Lum, Momoko Inoue, Yasushi Iida, Hirokuni Takano, Takashi Nikaido, Aikou Okamoto, David G. Huntsman

PLoS One. 2017; 12(6): e0178989. Published online 2017 Jun 8. doi: 10.1371/journal.pone.0178989