Zobrazeno 1 - 10
of 219
pro vyhledávání: '"Anthony J Aldave"'
Autor:
Doug D Chung, Angela C Chen, Charlene H Choo, Wenlin Zhang, Dominic Williams, Christopher G Griffis, Paul Bonezzi, Kavya Jatavallabhula, Alapakkam P Sampath, Anthony J Aldave
Publikováno v:
PLoS ONE, Vol 19, Iss 1, p e0296928 (2024)
Mutations in the solute linked carrier family 4 member 11 (SLC4A11) gene are associated with congenital hereditary endothelial dystrophy (CHED) and Fuchs corneal endothelial dystrophy type 4 (FECD4), both characterized by corneal endothelial cell (CE
Externí odkaz:
https://doaj.org/article/e3809030b70346a9b0372afd7366ba2b
ZEB1 insufficiency causes corneal endothelial cell state transition and altered cellular processing.
Autor:
Ricardo F Frausto, Doug D Chung, Payton M Boere, Vinay S Swamy, Huong N V Duong, Liyo Kao, Rustam Azimov, Wenlin Zhang, Liam Carrigan, Davey Wong, Marco Morselli, Marina Zakharevich, E Maryam Hanser, Austin C Kassels, Ira Kurtz, Matteo Pellegrini, Anthony J Aldave
Publikováno v:
PLoS ONE, Vol 14, Iss 6, p e0218279 (2019)
The zinc finger e-box binding homeobox 1 (ZEB1) transcription factor is a master regulator of the epithelial to mesenchymal transition (EMT), and of the reverse mesenchymal to epithelial transition (MET) processes. ZEB1 plays an integral role in medi
Externí odkaz:
https://doaj.org/article/16fbe0e583ef46129b3a82416845a17f
Confirmation of the OVOL2 Promoter Mutation c.-307T>C in Posterior Polymorphous Corneal Dystrophy 1.
Autor:
Doug D Chung, Ricardo F Frausto, Aleck E Cervantes, Katherine M Gee, Marina Zakharevich, Evelyn M Hanser, Edwin M Stone, Elise Heon, Anthony J Aldave
Publikováno v:
PLoS ONE, Vol 12, Iss 1, p e0169215 (2017)
To identify the genetic basis of posterior polymorphous corneal dystrophy (PPCD) in families mapped to the PPCD1 locus and in affected individuals without ZEB1 coding region mutations.The promoter, 5' UTR, and coding regions of OVOL2 was screened in
Externí odkaz:
https://doaj.org/article/1a6f45d7c6c9490e93d295fed3445b9a
Publikováno v:
PLoS ONE, Vol 11, Iss 6, p e0158467 (2016)
Posterior polymorphous corneal dystrophy 1 (PPCD1) is a genetic disorder that affects corneal endothelial cell function and leads to loss of visual acuity. PPCD1 has been linked to a locus on chromosome 20 in multiple families; however, Sanger sequen
Externí odkaz:
https://doaj.org/article/faf21b8e43d346d8b581b7a184529275
Autor:
Benjamin R Lin, Derek J Le, Yabin Chen, Qiwei Wang, D Doug Chung, Ricardo F Frausto, Christopher Croasdale, Richard W Yee, Fielding J Hejtmancik, Anthony J Aldave
Publikováno v:
PLoS ONE, Vol 11, Iss 6, p e0157418 (2016)
To report identification of a COL17A1 mutation in a family with a corneal dystrophy previously mapped to chromosome 10q23-q24.Whole-exome sequencing was performed on DNA samples from five affected family members and two unrelated, unaffected individu
Externí odkaz:
https://doaj.org/article/758114d8a80c439189d0d3462e90359d
Autor:
Michelle J Kim, Ricardo F Frausto, George O D Rosenwasser, Tina Bui, Derek J Le, Edwin M Stone, Anthony J Aldave
Publikováno v:
PLoS ONE, Vol 9, Iss 4, p e95037 (2014)
Posterior amorphous corneal dystrophy (PACD) is a rare, autosomal dominant disorder affecting the cornea and iris. Next-generation sequencing of the previously identified PACD linkage interval on chromosome 12q21.33 failed to yield a pathogenic mutat
Externí odkaz:
https://doaj.org/article/a9bd5432af274fb4a88281d91b39255f
Autor:
Robert P Igo, Laura J Kopplin, Peronne Joseph, Barbara Truitt, Jeremy Fondran, David Bardenstein, Anthony J Aldave, Christopher R Croasdale, Marianne O Price, Miriam Rosenwasser, Jonathan H Lass, Sudha K Iyengar, FECD Genetics Multi-center Study Group
Publikováno v:
PLoS ONE, Vol 7, Iss 10, p e46742 (2012)
Fuchs endothelial corneal dystrophy (FECD) is the most common late-onset, vision-threatening corneal dystrophy in the United States, affecting about 4% of the population. Advanced FECD involves a thickening of the cornea from stromal edema and change
Externí odkaz:
https://doaj.org/article/70f3b8eeefee4eff94c5c8752ca8c5bf
Autor:
Sofia De Arrigunaga, Esen K. Akpek, Anthony J. Aldave, Shahzad I. Mian, David Zurakowski, Joseph B. Ciolino
Publikováno v:
American Journal of Ophthalmology. 249:39-48
Assess whether cross-linking the carrier donor cornea of the Boston Keratoprosthesis (BKPro) improves retention of the device in participants at high risk of keratolysis.Prospective, double-masked randomized clinical trial.In this multicenter study,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a28ad7b7d23b8b9508eb825ed6e76f1
https://doi.org/10.1016/j.ajo.2022.12.017
https://doi.org/10.1016/j.ajo.2022.12.017
Autor:
Dominic, Williams, Doug D, Chung, Anna, Hovakimyan, Araks, Davtyan, Ben J, Glasgow, Anthony J, Aldave
Publikováno v:
Cornea. 42:464-469
Congenital stromal corneal dystrophy (CSCD) is a rare congenital, dominantly inherited disorder characterized by diffuse stromal opacification associated with mutations in the decorin gene (DCN). As only 5 families with genetically confirmed CSCD hav
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b0eaafcf3791350336fce2d9021eaabf
https://doi.org/10.1097/ico.0000000000003167
https://doi.org/10.1097/ico.0000000000003167
Autor:
Charlene H, Choo, Doug D, Chung, Kaitlyn V, Ledwitch, Alexa, Kassels, Jens, Meiler, Anthony J, Aldave
Publikováno v:
Ophthalmic genetics. 43(4)
To provide the initial confirmation of the c.1772CT (p.Ser591Phe) mutation in the transforming growth factor-Ophthalmologic examination of the proband was performed with slit lamp biomicroscopy. Saliva was collected as a source of DNA for screening a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::f263a567a86c22c71537d069de5d9f15
https://pubmed.ncbi.nlm.nih.gov/35315300
https://pubmed.ncbi.nlm.nih.gov/35315300