PMC Links for Gene (Select 2301) - PMC

Select item 83698401.

Comprehensive phenotypic and functional analysis of dominant and recessive FOXE3 alleles in ocular developmental disorders

Linda M Reis, Elena A Sorokina, Lubica Dudakova, Jana Moravikova, Pavlina Skalicka, Frantisek Malinka, Sarah E Seese, Samuel Thompson, Tanya Bardakjian, Jenina Capasso, William Allen, Tom Glaser, Alex V Levin, Adele Schneider, Ayesha Khan, Petra Liskova, Elena V Semina

Hum Mol Genet. 2021 Sep 1; 30(17): 1591–1606. Published online 2021 May 27. doi: 10.1093/hmg/ddab142

PMCID:: PMC8369840

Article PDF–1.7M

Select item 37625622.

An epidemiological investigation of a Forkhead box protein E3 founder mutation underlying the high frequency of sclerocornea, aphakia, and microphthalmia in a Mexican village

Carlos Pantoja-Melendez, Manir Ali, Juan C. Zenteno

Mol Vis. 2013; 19: 1866–1870. Published online 2013 Aug 27.

PMCID:: PMC3762562

Article PDF–614K

Select item 30620093.

A novel, non-stop mutation in FOXE3 causes an autosomal dominant form of variable anterior segment dysgenesis including Peters anomaly

Lance Doucette, Jane Green, Bridget Fernandez, Gordon J Johnson, Patrick Parfrey, Terry-Lynn Young

Eur J Hum Genet. 2011 Mar; 19(3): 293–299. Published online 2010 Dec 8. doi: 10.1038/ejhg.2010.210

PMCID:: PMC3062009

Article PDF–452K

Select item 29980414.

FOXE3 plays a significant role in autosomal recessive microphthalmia

Linda M. Reis, Rebecca C. Tyler, Adele Schneider, Tanya Bardakjian, Joan M. Stoler, Serge B. Melancon, Elena V. Semina

Am J Med Genet A. Author manuscript; available in PMC 2011 Mar 1.

Published in final edited form as: Am J Med Genet A. 2010 Mar; 152A(3): 582–590. doi: 10.1002/ajmg.a.33257

PMCID:: PMC2998041

Article PDF–384K

Select item 29011965.

Homozygous FOXE3 mutations cause non-syndromic, bilateral, total sclerocornea, aphakia, microphthalmia and optic disc coloboma

Manir Ali, Beatriz Buentello-Volante, Martin McKibbin, J. Alberto Rocha-Medina, Narcis Fernandez-Fuentes, Wilson Koga-Nakamura, Aruna Ashiq, Kamron Khan, Adam P. Booth, Grange Williams, Yasmin Raashid, Hussain Jafri, Aine Rice, Chris F. Inglehearn, Juan Carlos Zenteno

Mol Vis. 2010; 16: 1162–1168. Published online 2010 Jun 23.

PMCID:: PMC2901196

Article PDF–1.4M

Select item 28468476.

A mutation in the FOXE3 gene causes congenital primary aphakia in an autosomal recessive consanguineous Pakistani family

Iram Anjum, Hans Eiberg, Shahid Mahmood Baig, Niels Tommerup, Lars Hansen

Mol Vis. 2010; 16: 549–555. Published online 2010 Mar 30.

PMCID:: PMC2846847

Article PDF–2.1M

Select item 105055977.

FOXO1-regulated lncRNA CYP1B1-AS1 suppresses breast cancer cell proliferation by inhibiting neddylation

Li Tang, Da Wei, Xinyu Xu, Dongping Mo, Daofu Cheng, Feng Yan

Breast Cancer Res Treat. 2023; 202(2): 397–408. Published online 2023 Aug 28. doi: 10.1007/s10549-023-07090-z

PMCID:: PMC10505597

Article PDF–6.4M

Select item 29274398.

Identification of dominant FOXE3 and PAX6 mutations in patients with congenital cataract and aniridia

Dominique Brémond-Gignac, Pierre Bitoun, Linda M. Reis, Henri Copin, Jeffrey C. Murray, Elena V. Semina

Mol Vis. 2010; 16: 1705–1711. Published online 2010 Aug 22.

PMCID:: PMC2927439

Article PDF–1.6M

Select item 15594779.

Homozygous Nonsense Mutation in the FOXE3 Gene as a Cause of Congenital Primary Aphakia in Humans

Sophie Valleix, Florence Niel, Brigitte Nedelec, Marie-Paule Algros, Claire Schwartz, Bernard Delbosc, Marc Delpech, Bernadette Kantelip

Am J Hum Genet. 2006 Aug; 79(2): 358–364. Published online 2006 Jun 8. doi: 10.1086/505654

PMCID:: PMC1559477

Article PDF–3.2M

Select item 326275410.

Targeted 'Next-Generation' sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutations

Nelson Lopez Jimenez, Jason Flannick, Mani Yahyavi, Jiang Li, Tanya Bardakjian, Leath Tonkin, Adele Schneider, Elliott H Sherr, Anne M Slavotinek

BMC Med Genet. 2011; 12: 172. Published online 2011 Dec 28. doi: 10.1186/1471-2350-12-172

PMCID:: PMC3262754

Article PDF–530K

Select item 751860411.

Pathogenic variants of AIPL1, MERTK, GUCY2D, and FOXE3 in Pakistani families with clinically heterogeneous eye diseases

Muhammad Rashid, Muhammad Qasim, Rafaqat Ishaq, Shazia Anwer Bukhari, Zureesha Sajid, Usman Ali Ashfaq, Asma Haque, Zubair M. Ahmed

PLoS One. 2020; 15(9): e0239748. Published online 2020 Sep 25. doi: 10.1371/journal.pone.0239748

PMCID:: PMC7518604

Article PDF–1.0M

Select item 31635412.

A forkhead gene, FoxE3, is essential for lens epithelial proliferation and closure of the lens vesicle

Åsa Blixt, Margit Mahlapuu, Marjo Aitola, Markku Pelto-Huikko, Sven Enerbäck, Peter Carlsson

Genes Dev. 2000 Jan 15; 14(2): 245–254.

PMCID:: PMC316354

Article PDF–748K

Select item 482081113.

FOXE3 contributes to Peters anomaly through transcriptional regulation of an autophagy-associated protein termed DNAJB1

Shahid Y. Khan, Shivakumar Vasanth, Firoz Kabir, John D. Gottsch, Arif O. Khan, Raghothama Chaerkady, Mei-Chong W. Lee, Carmen C. Leitch, Zhiwei Ma, Julie Laux, Rafael Villasmil, Shaheen N. Khan, Sheikh Riazuddin, Javed Akram, Robert N. Cole, C. Conover Talbot, Nader Pourmand, Norann A. Zaghloul, J. Fielding Hejtmancik, S. Amer Riazuddin

Nat Commun. 2016; 7: 10953. Published online 2016 Mar 24. doi: 10.1038/ncomms10953

PMCID:: PMC4820811

Article PDF–2.6M

Select item 476735014.

FOXE3 mutations predispose to thoracic aortic aneurysms and dissections

Shao-Qing Kuang, Olga Medina-Martinez, Dong-chuan Guo, Limin Gong, Ellen S. Regalado, Corey L. Reynolds, Catherine Boileau, Guillaume Jondeau, Siddharth K. Prakash, Callie S. Kwartler, Lawrence Yang Zhu, Andrew M. Peters, Xue-Yan Duan, National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC) Investigators, National Heart, Lung, and Blood Institute (NHLBI) Grand Opportunity (GO) Exome Sequencing Project (ESP), Michael J. Bamshad, Jay Shendure, Debbie A. Nickerson, Regie L. Santos-Cortez, Xiurong Dong, Suzanne M. Leal, Mark W. Majesky, Eric C. Swindell, Milan Jamrich, Dianna M. Milewicz

J Clin Invest. 2016 Mar 1; 126(3): 948–961. Published online 2016 Feb 8. doi: 10.1172/JCI83778

PMCID:: PMC4767350

Article PDF–6.3M

Select item 126577815.

Severe Defects in Proliferation and Differentiation of Lens Cells in Foxe3 Null Mice

Olga Medina-Martinez, Isaac Brownell, Felipe Amaya-Manzanares, Qiyong Hu, Richard R. Behringer, Milan Jamrich

Mol Cell Biol. 2005 Oct; 25(20): 8854–8863. doi: 10.1128/MCB.25.20.8854-8863.2005

PMCID:: PMC1265778

Article PDF–1.6M

Select item 602082116.

A zebrafish model of foxe3 deficiency demonstrates lens and eye defects with dysregulation of key genes involved in cataract formation in humans

M Krall, S Htun, D Anand, D Hart, SA Lachke, A Slavotinek

Hum Genet. Author manuscript; available in PMC 2019 Apr 30.

Published in final edited form as: Hum Genet. 2018 Apr; 137(4): 315–328. Published online 2018 Apr 30. doi: 10.1007/s00439-018-1884-1

Correction in:: Hum Genet. 2018 May 11

PMCID:: PMC6020821

Article PDF–1.1M

Select item 816503017.

Dual Proteome-scale Networks Reveal Cell-specific Remodeling of the Human Interactome

Edward L. Huttlin, Raphael J. Bruckner, Jose Navarrete-Perea, Joe R. Cannon, Kurt Baltier, Fana Gebreab, Melanie P. Gygi, Alexandra Thornock, Gabriela Zarraga, Stanley Tam, John Szpyt, Brandon M. Gassaway, Alexandra Panov, Hannah Parzen, Sipei Fu, Arvene Golbazi, Eila Maenpaa, Keegan Stricker, Sanjukta Guha Thakurta, Tian Zhang, Ramin Rad, Joshua Pan, David P. Nusinow, Joao A. Paulo, Devin K. Schweppe, Laura Pontano Vaites, J. Wade Harper, Steven P. Gygi

Cell. Author manuscript; available in PMC 2022 May 27.

Published in final edited form as: Cell. 2021 May 27; 184(11): 3022–3040.e28. Published online 2021 May 6. doi: 10.1016/j.cell.2021.04.011

PMCID:: PMC8165030

Article PDF–2.2M

Select item 317805918.

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas

Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042

PMCID:: PMC3178059

Article PDF–1.0M

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