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CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 3 (disorder)
Known as:
Corneal Dystrophy, Posterior Polymorphous, 3
, PPCD3
National Institutes of Health
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Related topics
Related topics
3 relations
Broader (1)
Hereditary corneal dystrophy
ZEB1, 1350C-T
Zinc Finger E-Box-Binding Homeobox 1, Human
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2019
2019
Alterations in GRHL2-OVOL2-ZEB1 axis and aberrant activation of wnt signaling lead to altered gene transcription in posterior polymorphous corneal dystrophy.
D. Chung
,
Wenlin Zhang
,
Kavya Jatavallabhula
,
Alice Barrington
,
JooYeon Jung
,
A. Aldave
Experimental Eye Research
2019
Corpus ID: 195355681
2019
2019
The utility of massively parallel sequencing for posterior polymorphous corneal dystrophy type 3 molecular diagnosis
L. Dudakova
,
C. J. Evans
,
+14 authors
P. Lišková
Experimental Eye Research
2019
Corpus ID: 73497176
2017
2017
Transcriptomic Profiling of Posterior Polymorphous Corneal Dystrophy
D. Chung
,
R. Frausto
,
B. Lin
,
E. M. Hanser
,
Z. Cohen
,
A. Aldave
Investigative Ophthalmology and Visual Science
2017
Corpus ID: 1155509
Purpose To investigate the molecular basis of posterior polymorphous corneal dystrophy (PPCD) by examining the PPCD transcriptome…
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2017
2017
Confirmation of the OVOL2 Promoter Mutation c.-307T>C in Posterior Polymorphous Corneal Dystrophy 1
D. Chung
,
R. Frausto
,
+6 authors
A. Aldave
PLoS ONE
2017
Corpus ID: 5738218
Purpose To identify the genetic basis of posterior polymorphous corneal dystrophy (PPCD) in families mapped to the PPCD1 locus…
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2017
2017
Elucidating the molecular basis of PPCD: Effects of decreased ZEB1 expression on corneal endothelial cell function
M. Zakharevich
,
Jaffer M. Kattan
,
+5 authors
A. Aldave
Molecular Vision
2017
Corpus ID: 4382675
Purpose To investigate the functional role that the zinc e-box binding homeobox 1 (ZEB1) gene, which underlies the genetic basis…
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2017
2017
Agenesis of the corpus callosum, developmental delay, autism spectrum disorder, facial dysmorphism, and posterior polymorphous corneal dystrophy associated with ZEB1 gene deletion
A. Chaudhry
,
B. Chung
,
+4 authors
D. Chitayat
American Journal of Medical Genetics. Part A
2017
Corpus ID: 42907758
We report on a girl diagnosed prenatally with agenesis of the corpus callosum (ACC) on fetal ultrasound and MRI. On postnatal…
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2015
2015
Heterozygous deletions at the ZEB1 locus verify haploinsufficiency as the mechanism of disease for posterior polymorphous corneal dystrophy type 3
P. Lišková
,
C. J. Evans
,
+9 authors
A. Hardcastle
European Journal of Human Genetics
2015
Corpus ID: 40371056
A substantial proportion of patients with posterior polymorphous corneal dystrophy (PPCD) lack a molecular diagnosis. We…
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2014
2014
Functional impact of ZEB1 mutations associated with posterior polymorphous and Fuchs' endothelial corneal dystrophies.
D. D. Chung
,
R. Frausto
,
Lydia B Ann
,
M. Jang
,
A. Aldave
Investigative Ophthalmology and Visual Science
2014
Corpus ID: 23015306
PURPOSE To assess the impact of zinc finger E-box binding homeobox 1 (ZEB1) gene mutations associated with posterior polymorphous…
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Review
2013
Review
2013
Genetics of the corneal endothelial dystrophies: an evidence‐based review
A. Aldave
,
Jonathan Han
,
R. Frausto
Clinical Genetics
2013
Corpus ID: 23389780
The aim of this review was to provide an evidenced‐based review of the genetic basis of the corneal endothelial dystrophies. A…
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2003
2003
Compiling Stream Kernels for Polymorphous Computing Architectures
Charles Hardnett
,
Ajay Jayaraj
,
T. Kumar
,
K. Palem
,
S. Yalamanchili
2003
Corpus ID: 15807438
Polymorphous Computing Architectures (PCA) have multiple modes of operation and can reassign resources allocated to these modes…
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