PMC Links for OMIM (Select 601094) - PMC

Select item 48208111.

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

Abstract Article PDF–2.6M

Select item 47673502.

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

Abstract Article PDF–6.3M

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

Abstract Article PDF–452K

Select item 28468474.

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

Abstract Article PDF–2.1M

Select item 25388855.

The orphan G protein-coupled receptor, Gpr161, encodes the vacuolated lens locus and controls neurulation and lens development

Paul G. Matteson, Jigar Desai, Ron Korstanje, Gloria Lazar, Tanya E. Borsuk, Jarod Rollins, Sindhuja Kadambi, Jamie Joseph, Taslima Rahman, Jason Wink, Rym Benayed, Beverly Paigen, James H. Millonig

Proc Natl Acad Sci U S A. 2008 Feb 12; 105(6): 2088–2093. Published online 2008 Feb 4. doi: 10.1073/pnas.0705657105

PMCID:: PMC2538885

Abstract Article PDF–925K

Select item 15594776.

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

Abstract Article PDF–3.2M

Select item 3163547.

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

Abstract Article PDF–748K

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