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Showing 1-7 of 7 results for "hpa003436" within Papers
Anthony Bejjani et al.
Molecular vision, 18, 2805-2813 (2012-12-13)
Retinoblastoma (RB), an intraocular tumor of childhood, is commonly associated with mutations in the RB1 gene. RB116 is a novel, early passage RB cell line that has not been previously characterized. In this study, we examined RB116 for the expression
Yuxiao Zeng et al.
Frontiers in cell and developmental biology, 9, 607341-607341 (2021-03-02)
Increasing evidence demonstrated that PM2.5 could cross the placenta and fetal blood-brain barrier, causing neurotoxicity of embryonic development. The retina, an embryologic extension of the central nervous system, is extremely sensitive and vulnerable to environmental insults. The adverse effects of
Sibel Ugur Iseri et al.
Human genetics, 128(1), 51-60 (2010-04-24)
Mutations in the visual system homeobox 2 gene (VSX2, also known as CHX10), which encodes a retinal transcription factor from the paired homeobox family, have been implicated in recessive isolated microphthalmia. In this study, we use genome-wide single nucleotide polymorphism
Tess A V Afanasyeva et al.
Cellular and molecular life sciences : CMLS, 78(19-20), 6505-6532 (2021-08-23)
Inherited retinal diseases (IRDs) cause progressive loss of light-sensitive photoreceptors in the eye and can lead to blindness. Gene-based therapies for IRDs have shown remarkable progress in the past decade, but the vast majority of forms remain untreatable. In the
Jinying Li et al.
International journal of molecular sciences, 23(15) (2022-08-13)
The loss of photoreceptors is a major event of retinal degeneration that accounts for most cases of untreatable blindness globally. To date, there are no efficient therapeutic approaches to treat this condition. In the present study, we aimed to investigate
Udy Bar-Yosef et al.
Human genetics, 115(4), 302-309 (2004-07-17)
Microphthalmia/anophthalmia is a clinically heterogeneous disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. The genetic defect underlying isolated autosomal recessive microphthalmia/anophthalmia is yet unclear. We studied four families (two
Linda M Reis et al.
Molecular vision, 17, 2527-2532 (2011-10-07)
To further explore the spectrum of mutations in the Visual System Homeobox 2 (VSX2/CHX10) gene previously found to be associated with autosomal recessive microphthalmia. We screened 95 probands with syndromic or isolated developmental ocular conditions (including 55 with anophthalmia/microphthalmia) for
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