Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Short Stature, GH stimulation testing and RNASeq

ABSTRACT: Short Stature, GH stimulation testing and RNASeq

PROVIDER: PRJNA787298 | ENA |

REPOSITORIES: ENA

ACCESS DATA

Json Xml

Similar Datasets

Short Stature, GH stimulation testing and RNASeq

Project description:Case series of children and adolescents undergoing growth hormone stimulation testing for investigation of short stature. The aim of this study was to identify whether a machine learning approach utilising gene expression data could predict which short children would test positive for GHD and which would not.

2021-12-15 | GSE190502 | GEO

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

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.

2023-01-31 | GSE193994 | GEO

Differentially methylated CpGs in response to growth hormone treatment in children with idiopathic short stature

Project description:It is important to access whether growth hormone (GH) is capable of producing its own epigenetic marks on the methylome. We aim to perform a comprehensive pharmaco-epigenomics analysis of DNA methylation changes on responding to long-term GH treatment in children with idiopathic short stature. We measured DNA methylation profiles before and after GH treatment (with a duration of aprox18 months in average) on 49 healthy children using customized methylC-seq capture sequencing.

| EGAS00001006115 | EGA

DNA methylation sequencing of SLC22A18 between short stature patients and controls

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

| PRJEB40391 | ENA

Very short reads file for testing purposes

Project description:Very short FASTQ reads file for testing purposes

| EGAS00001001701 | EGA

Alstrom syndrome is associated with short stature and reduced GH reserve.

Project description: Not available

| S-EPMC3718851 | biostudies-literature

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.

2018-10-13 | GSE121177 | GEO

Testing

Project description:Testing

| PRJEB34844 | ENA