PMC Articles for MedGen (Select 934606) - PMC

Select item 78622581.

Clinically-identified C-terminal mutations in fibulin-3 are prone to misfolding and destabilization

DaNae R. Woodard, Emi Nakahara, John D. Hulleman

Sci Rep. 2021; 11: 2998. Published online 2021 Feb 4. doi: 10.1038/s41598-020-79570-x

PMCID:: PMC7862258

Select item 75450802.

SVEP1 as a Genetic Modifier of TEK-Related Primary Congenital Glaucoma

Terri L. Young, Kristina N. Whisenhunt, Jing Jin, Sarah M. LaMartina, Sean M. Martin, Tomokazu Souma, Vachiranee Limviphuvadh, Fatemeh Suri, Emmanuelle Souzeau, Xue Zhang, Yongwook Dan, Evie Anagnos, Susana Carmona, Nicole M. Jody, Nickie Stangel, Emily C. Higuchi, Samuel J. Huang, Owen M. Siggs, Maria José Simões, Brendan M. Lawson, Jacob S. Martin, Elahe Elahi, Mehrnaz Narooie-Nejad, Behzad Fallahi Motlagh, Susan E. Quaggin, Heather D. Potter, Eduardo D. Silva, Jamie E. Craig, Conceição Egas, Reza Maroofian, Sebastian Maurer-Stroh, Yasmin S. Bradfield, Stuart W. Tompson

Invest Ophthalmol Vis Sci. 2020 Oct; 61(12): 6. Published online 2020 Oct 7. doi: 10.1167/iovs.61.12.6

PMCID:: PMC7545080

Abstract Article PDF–7.0M

Select item 65066173.

Zika Virus Infects Trabecular Meshwork and Causes Trabeculitis and Glaucomatous Pathology in Mouse Eyes

Pawan Kumar Singh, Ramesh B. Kasetti, Gulab S. Zode, Anju Goyal, Mark S. Juzych, Ashok Kumar

mSphere. 2019 May-Jun; 4(3): e00173-19. Published online 2019 May 8. doi: 10.1128/mSphere.00173-19

PMCID:: PMC6506617

Abstract Article PDF–3.2M

Select item 61891804.

Primary congenital glaucoma including next-generation sequencing-based approaches: clinical utility gene card

Cynthia Yu-Wai-Man, Gavin Arno, John Brookes, Julian Garcia-Feijoo, Peng Tee Khaw, Mariya Moosajee

Eur J Hum Genet. 2018 Nov; 26(11): 1713–1718. Published online 2018 Aug 8. doi: 10.1038/s41431-018-0227-y

PMCID:: PMC6189180

Abstract Article PDF–394K

Select item 57071605.

Angiopoietin-1 is required for Schlemm’s canal development in mice and humans

Benjamin R. Thomson, Tomokazu Souma, Stuart W. Tompson, Tuncer Onay, Krishnakumar Kizhatil, Owen M. Siggs, Liang Feng, Kristina N. Whisenhunt, Tammy L. Yanovitch, Luba Kalaydjieva, Dimitar N. Azmanov, Simone Finzi, Christine E. Tanna, Alex W. Hewitt, David A. Mackey, Yasmin S. Bradfield, Emmanuelle Souzeau, Shari Javadiyan, Janey L. Wiggs, Francesca Pasutto, Xiaorong Liu, Simon W.M. John, Jamie E. Craig, Jing Jin, Terri L. Young, Susan E. Quaggin

J Clin Invest. 2017 Dec 1; 127(12): 4421–4436. Published online 2017 Nov 6. doi: 10.1172/JCI95545

PMCID:: PMC5707160

Abstract Article PDF–15M

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