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ABSTRACT: short stature patient sequencing

PROVIDER: PRJNA876018 | ENA |

REPOSITORIES: ENA

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			Action	DRS
	SRR21394884_1.fastq.gz	Fastqsanger.gz
	SRR21394884_2.fastq.gz	Fastqsanger.gz
	SRR21394885_1.fastq.gz	Fastqsanger.gz
	SRR21394885_2.fastq.gz	Fastqsanger.gz
	SRR21394886_1.fastq.gz	Fastqsanger.gz

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Project description:short stature

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Sarig et al. SOFT syndrome caused by a mutation in POC1A

Project description:Disproportionate short stature refers to a heterogeneous group of hereditary disorders, which are classified according to their mode of inheritance, their clinical skeletal and non-skeletal manifestations, and their radiological characteristics. In the present study, we report on a novel autosomal recessive osteocutaneous disorder that we termed short stature-onychodysplasia-facial dysmorphism-hypotrichosis (SOFT) syndrome. we identified a homozygous point mutation (p.L171P) in POC1A (Centriolar Protein Homolog A). The mutation affects a highly conserved amino acid residue and is predicted to interfere with protein function. To gain insight into the pathomechanisms underlying the deleterious effect of the causative mutation, we compared transcription profiles of patient and control fibroblasts.

2012-08-22 | E-MEXP-3650 | 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

MUTATIONS IN FIBRONECTIN IMPAIR CHONDROGENESIS IN CORNER FRACTURE TYPE SPONDYLOMETAPHYSEAL DYSPLASIA

Project description:The study aims to investigate molecular consequences of mutations in matrix glycoprotein fibronectin (FN) in pathological condition corner fracture type spondylometaphyseal dysplasia (SMDCF). SMDCF is a rare group of skeletal dysplasia wherein the patients are characterized by severe skeletal anomalies such as short stature, scoliosis , coxa vara, genu varum and more. To investigate the molecular mechanism underlying the pathogenesis of SMDCF, we analyzed the cellular transcriptome of SMDCF patient using next generation RNA sequencing on iPSC derived mesenchymal stem cells and chondrocytes.

2024-09-23 | GSE251698 | 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 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

Short Stature, GH stimulation testing and RNASeq

Project description:Short Stature, GH stimulation testing and RNASeq

| PRJNA787298 | ENA

Expression profiles of wildtype and SHOX transgenic embryonic mouse limbs

2014-08-13 | GSE47902 | GEO

Expression profiles of wildtype and SHOX transgenic embryonic mouse limbs

Project description:Deficiency of the human short stature homeobox-containing gene (SHOX) has been identified in several disorders characterized by reduced height and skeletal anomalies such as Turner, Leri-Weill and Langer syndrome as well as idiopathic short stature. Although highly conserved in vertebrates, rodents lack a SHOX orthologue. Here, we compared gene expression profiles of wildtype and SHOX transgenic mouse limbs using microarray experiments to identify SHOX target genes in the developing limb. Limbs of E12.5 mouse embryos were dissected, fore- and hindlimbs were pooled and genotyped for RNA extraction. RNA from 2 to 4 littermates was pooled per genotype (Wildtype and SHOX transgene) and compared. In total, 2 microarray hybridization experiments were performed using RNA from 2 biological replicate samples for each genotype.

2014-08-13 | E-GEOD-47902 | biostudies-arrayexpress

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

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