The lens epithelium as a major determinant in the development, maintenance, and regeneration of the crystalline lens

Z Liu, S Huang, Y Zheng, T Zhou, L Hu, L Xiong… - Progress in retinal and …, 2023 - Elsevier
The crystalline lens is a transparent and refractive biconvex structure formed by lens
epithelial cells (LECs) and lens fibers. Lens opacity, also known as cataracts, is the leading …

Genetics of anophthalmia and microphthalmia. Part 1: Non-syndromic anophthalmia/microphthalmia

J Plaisancié, F Ceroni, R Holt, C Zazo Seco, P Calvas… - Human Genetics, 2019 - Springer
Eye formation is the result of coordinated induction and differentiation processes during
embryogenesis. Disruption of any one of these events has the potential to cause ocular …

ETV4 overexpression promotes progression of non–small cell lung cancer by upregulating PXN and MMP1 transcriptionally

Y Wang, X Ding, B Liu, M Li, Y Chang… - Molecular …, 2020 - Wiley Online Library
Abstract ETS variant 4 (ETV4), together with ETV1 and ETV5, constitute the PEA3 subfamily
of ETS transcription factors, which are implicated in the progression of many cancers …

Mutation update of transcription factor genes FOXE3, HSF4, MAF, and PITX3 causing cataracts and other developmental ocular defects

D Anand, SA Agrawal, A Slavotinek… - Human mutation, 2018 - Wiley Online Library
Mutations in the transcription factor genes FOXE3, HSF4, MAF, and PITX3 cause congenital
lens defects including cataracts that may be accompanied by defects in other components of …

Multi-faceted roles of DNAJB protein in cancer metastasis and clinical implications

HY Kim, S Hong - International Journal of Molecular Sciences, 2022 - mdpi.com
Heat shock proteins (HSPs) are highly conserved molecular chaperones with diverse
cellular activities, including protein folding, assembly or disassembly of protein complexes …

Phenotype–genotype correlations and emerging pathways in ocular anterior segment dysgenesis

AS Ma, JR Grigg, RV Jamieson - Human Genetics, 2019 - Springer
Disorders of the anterior segment of the eye encompass a variety of clinical presentations
including aniridia, Axenfeld and Rieger anomalies, primary congenital glaucoma, Peters …

Genetic landscape of isolated pediatric cataracts: extreme heterogeneity and variable inheritance patterns within genes

LM Reis, EV Semina - Human genetics, 2019 - Springer
Pediatric cataract represents an important cause of pediatric visual impairment. While both
genetic and environmental causes for pediatric cataract are known, a large proportion …

The molecular genetics of anterior segment dysgenesis

L Kuang, M Zhang, T Wang, T Huang, J Li… - Experimental Eye …, 2023 - Elsevier
Anterior segment dysgenesis is a severe developmental eye disorder that leads to blindness
in children. The exact mechanisms underlying this condition remain elusive. Recently, an …

Systemic deletion of Atp7b modifies the hepatocytes' response to copper overload in the mouse models of Wilson disease

A Muchenditsi, CC Talbot Jr, A Gottlieb, H Yang… - Scientific reports, 2021 - nature.com
Wilson disease (WD) is caused by inactivation of the copper transporter Atp7b and copper
overload in tissues. Mice with Atp7b deleted either globally (systemic inactivation) or only in …

[HTML][HTML] Heritable thoracic aortic disease overview

DM Milewicz, E Regalado - 2017 - europepmc.org
Heritable Thoracic Aortic Disease Overview - Abstract - Europe PMC Sign in | Create an
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