Review Recent progress in identification and characterization of loci associated with sex-linked congenital cataract

Zhang, D D; Du, Juanjiangmeng; Topolewski, J; Wang, X M

doi:10.4238/gmr.15038600

Cited by 2 publications

(1 citation statement)

References 33 publications

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“…Lowe syndrome is a very rare disease (prevalence of 1/500,000) characterized by the association of congenital cataract, neurological damage with hypotonia, moderate to severe intellectual disability, and proximal tubulopathy evolving to renal failure usually before the age of 20 [ 1 ]. It is an X-linked disease, caused by pathogenic variations of the OCRL gene [ 2 ].…”

Section: Introductionmentioning

confidence: 99%

Prenatal diagnosis of Lowe syndrome in a male fetus with isolated bilateral cataract

Rouxel¹,

Fauré²,

Faure³

et al. 2022

Heliyon

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Section: Introductionmentioning

confidence: 99%

Prenatal diagnosis of Lowe syndrome in a male fetus with isolated bilateral cataract

Rouxel¹,

Fauré²,

Faure³

et al. 2022

Heliyon

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Identification and characterization of long non-coding RNAs in porcine granulosa cells exposed to 2,3,7,8-tetrachlorodibenzo-p-dioxin

Ruszkowska

Nynca

Paukszto

et al. 2018

J Animal Sci Biotechnol

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BackgroundLong non-coding RNAs (lncRNAs) may regulate gene expression in numerous biological processes including cellular response to xenobiotics. The exposure of living organisms to 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD), a persistent environmental contaminant, results in reproductive defects in many species including pigs. The aims of the study were to identify and characterize lncRNAs in porcine granulosa cells as well as to examine the effects of TCDD on the lncRNA expression profile in the cells.ResultsOne thousand six hundred sixty-six lncRNAs were identified and characterized in porcine granulosa cells. The identified lncRNAs were found to be shorter than mRNAs. In addition, the number of exons was lower in lncRNAs than in mRNAs and their exons were longer. TCDD affected the expression of 22 lncRNAs (differentially expressed lncRNAs [DELs]; log2 fold change ≥ 1, P-adjusted < 0.05) in the examined cells. Potential functions of DELs were indirectly predicted via searching their target cis- and trans-regulated protein-coding genes. The co-expression analysis revealed that DELs may influence the expression of numerous genes, including those involved in cellular response to xenobiotics, dioxin metabolism, endoplasmic reticulum stress and cell proliferation. Aryl hydrocarbon receptor (AhR) and cytochrome P450 1A1 (CYP1A1) were found among the trans-regulated genes.ConclusionsThese findings indicate that the identified lncRNAs may constitute a part of the regulatory mechanism of TCDD action in granulosa cells. To our knowledge, this is the first study describing lncRNAs in porcine granulosa cells as well as TCDD effects on the lncRNA expression profile. These results may trigger new research directions leading to better understanding of molecular processes induced by xenobiotics in the ovary.Electronic supplementary materialThe online version of this article (10.1186/s40104-018-0288-3) contains supplementary material, which is available to authorized users.

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Review Recent progress in identification and characterization of loci associated with sex-linked congenital cataract

Cited by 2 publications

References 33 publications

Prenatal diagnosis of Lowe syndrome in a male fetus with isolated bilateral cataract

Prenatal diagnosis of Lowe syndrome in a male fetus with isolated bilateral cataract

Identification and characterization of long non-coding RNAs in porcine granulosa cells exposed to 2,3,7,8-tetrachlorodibenzo-p-dioxin

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