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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.
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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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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2014
2014
Posterior polymorphous corneal dystrophy 3 is associated with agenesis and hypoplasia of the corpus callosum
M. Jang
,
Ashley N. Roldan
,
R. Frausto
,
A. Aldave
Vision Research
2014
Corpus ID: 15965307
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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Review
2013
Review
2013
Further genetic and clinical insights of posterior polymorphous corneal dystrophy 3.
P. Lišková
,
M. Palos
,
A. Hardcastle
,
A. Vincent
JAMA ophthalmology
2013
Corpus ID: 205130679
IMPORTANCE Posterior polymorphous corneal dystrophy (PPCD) is a very rare disorder characterized by primary changes of the…
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2010
2010
Analysis of the role of ZEB1 in the pathogenesis of posterior polymorphous corneal dystrophy.
V. Yellore
,
S. Rayner
,
+4 authors
A. Aldave
Investigative Ophthalmology and Visual Science
2010
Corpus ID: 2905765
PURPOSE To determine how nonsense mutations in the transcription factor ZEB1 lead to the development of posterior polymorphous…
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Highly Cited
2005
Highly Cited
2005
Mutations in TCF8 cause posterior polymorphous corneal dystrophy and ectopic expression of COL4A3 by corneal endothelial cells.
Charles M. Krafchak
,
H. Pawar
,
+18 authors
J. Richards
American Journal of Human Genetics
2005
Corpus ID: 15572774
Posterior polymorphous corneal dystrophy (PPCD, also known as PPMD) is a rare disease involving metaplasia and overgrowth of…
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2004
2004
A locus for posterior polymorphous corneal dystrophy (PPCD3) maps to chromosome 10
Satoko Shimizu
,
Charles M. Krafchak
,
+11 authors
J. Richards
American Journal of Medical Genetics. Part A
2004
Corpus ID: 7688126
Posterior polymorphous corneal dystrophy (PPCD) is an autosomal dominant disorder characterized by corneal endothelial…
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