2014
DOI: 10.1167/iovs.14-15247
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Functional Impact ofZEB1Mutations Associated With Posterior Polymorphous and Fuchs' Endothelial Corneal Dystrophies

Abstract: ZEB1 truncating mutations result in a significant decrease and/or impaired nuclear localization of the encoded protein, indicating that ZEB1 haploinsufficiency in PPCD3 may result from decreased protein production and/or impaired cellular localization. Conversely, as the reported ZEB1 missense mutations do not significantly impact protein abundance or nuclear localization, the effect of these mutations on ZEB1 function and their relationship to FECD, if any, remain to be elucidated.

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Cited by 32 publications
(34 citation statements)
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“…The first reports of Phytomonas infections of plants initially described the host plants as exhibiting poor growth and wilt [ 9 ]. Subsequent observations in Euphorbia segetalis and Euphorbia peplus agreed that infection with Phytomonas was deleterious to the plant [ 11 ], and reported that infected plants exhibited a depletion of starch granules from the latex and surrounding parenchyma and a reduction in the viscosity of the latex [ 12 ]. However, in contrast to this, other authors stated that infections in different Euphorbiaceae produced no detectable effects on plant growth or yield.…”
Section: Phytomonas : Endophytes and Pathogensmentioning
confidence: 99%
“…The first reports of Phytomonas infections of plants initially described the host plants as exhibiting poor growth and wilt [ 9 ]. Subsequent observations in Euphorbia segetalis and Euphorbia peplus agreed that infection with Phytomonas was deleterious to the plant [ 11 ], and reported that infected plants exhibited a depletion of starch granules from the latex and surrounding parenchyma and a reduction in the viscosity of the latex [ 12 ]. However, in contrast to this, other authors stated that infections in different Euphorbiaceae produced no detectable effects on plant growth or yield.…”
Section: Phytomonas : Endophytes and Pathogensmentioning
confidence: 99%
“…FECD is a complex multifactorial inheritance disease with a variable expression rate and incomplete penetrance [41]. FECD-related genes include TCF4, COL8A2, ZEB1, AGBL1, SLC4A11, DMPK, LOXHD1, LAMC1, ATP1B1, and KANK4 [42][43][44], and environmental factors (especially UVA) also play an important role [45]. Due to its function and anatomical location, the corneal endothelial layer suffers from UVA exposure every day.…”
Section: Fuchs' Endothelial Corneal Dystrophy (Fecd)mentioning
confidence: 99%
“…The affected genes TCF4 and TCF8 express the transcription factors E2-2 and ZEB1 respectively, which are known to promote EMT 157,158 . TCF8 also alters the expression of Collagen IV, which is abundant in DM 159 .…”
Section: Dysfunction Of the Corneal Endotheliummentioning
confidence: 99%