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DNA methylation sequencing of SLC22A18 between short stature patients and controls

ABSTRACT: DNA methylation sequencing of SLC22A18 between short stature patients and controls

PROVIDER: PRJEB72226 | ENA |

REPOSITORIES: ENA

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DNA methylation sequencing of SLC22A18 between short stature patients and controls

Project description:We found the expression of SLC22A18 in short stature patients is lower than that in controls by qPCR. DNA methylation is one of the most possible reason to make the expression of SLC22A18 abnormal. So we quantified the promoter methylation levels of 3 patients and 3 healthy controls by deep sequencing.

2021-09-03 | E-MTAB-9579 | biostudies-arrayexpress

DNA methylation sequencing of SLC22A18 between short stature patients and controls

Project description:We found the expression of SLC22A18 in short stature patients is lower than that in controls by qPCR. DNA methylation is one of the most possible reason to make the expression of SLC22A18 abnormal. So we quantified the promoter methylation levels of 15 patients and 15 healthy controls by deep sequencing.

2025-01-01 | E-MTAB-13750 | biostudies-arrayexpress

DNA methylation sequencing of SLC22A18 between short stature patients and controls

Project description:DNA methylation sequencing of SLC22A18 between short stature patients and controls

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Different expression of circRNAs in blood from idiopathic short stature patients and healthy controls

Project description:Idiopathic short stature is diagnosed by a standing height of less than two standard deviation scores in a specific population adjusted for age and gender and the exclusion of identifiable diseases. A series of studies have confirmed that noncoding RNAs can regulate the chondrocyte proliferation, hypertrophy, and endochondral ossification in the growth plate. In order to analyze and find differentially expressed circRNAs in Idiopathic short stature and healthy controls, we aimed to explore whether differentially expressed circRNAs in idiopathic short stature. Four pairs of blood samples were subjected to microarray analysis using the Arraystar Human CircRNAs Microarray v2 (Arraystar, USA). Compared to normal individuals, in ISS patients, the expression levels of 83 circRNAs were upregulated and those of 62 were downregulated.

2020-08-31 | GSE157147 | GEO

Different expression of ceRNAs (lncRNAs, circRNAs and mRNAs) in peripheral blood exosomes from idiopathic short stature patients and healthy controls

Project description:Idiopathic short stature is diagnosed by a standing height of less than two standard deviation scores in a specific population adjusted for age and gender and the exclusion of identifiable diseases. A series of studies have confirmed that noncoding RNAs can regulate the chondrocyte proliferation, hypertrophy, and endochondral ossification in the growth plate. In order to analyze and find differentially expressed ceRNAs (lncRNAs, circRNAs and mRNAs in peripheral blood exosomes of idiopathic short stature and healthy controls, we aimed to explore whether differentially expressed ceRNAs (lncRNAs, circRNAs and mRNAs) in peripheral blood exosomes of idiopathic short stature. Three pairs of peripheral blood exosomes samples were subjected to microarray analysis using the SBC human ceRNA Microarray.

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Short Stature, GH stimulation testing and RNASeq

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Different expression of circRNAs in blood from idiopathic short stature patients and healthy controls

Project description:Different expression of circRNAs in blood from idiopathic short stature patients and healthy controls

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Project description:Short Stature, GH stimulation testing and RNASeq

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Different expression of ceRNAs (lncRNAs, circRNAs and mRNAs) in peripheral blood exosomes from idiopathic short stature patients and healthy controls

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Variants in PUS7 cause intellectual disability with speech delay, microcephaly, short stature, and aggressive behavior

Project description:We describe six patients from three families with three homozygous protein truncating variants in PUS7: c.89_90del, p.(Thr30Lysfs20*); c.1348C>T, p.(Arg450*); and a deletion of the penultimate exon 15. All patients have intellectual disability with speech delay, short stature, microcephaly, and aggressive behavior. PUS7 encodes the RNA-independent pseudouridylate synthase 7. Pseudouridylation is the most abundant post-transcriptional modification in RNA, which is primarily thought to stabilize secondary structures of RNA. We show that the disease-related variants lead to abolishment of PUS7 activity on both tRNA and mRNA substrates. Moreover, Pus7 knockout in Drosophila melanogaster results in a number of behavioral defects, including increased activity with slower walking speed and disorientation supporting that neurological defects are caused by PUS7 variants. Our findings demonstrate that RNA pseudouridylation by PUS7 is essential for proper neuronal development and function.

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