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Microarray expression data from five Ehlers-Danlos Syndrome Hypermobility type/Joint Hypermobility Syndrome (EDS-HT/JHS) patients' skin fibroblasts

ABSTRACT: To unravel the molecular mechanisms potentially associated with the pathogenesis of the EDS-HT/JHS. Transcriptome-wide expression profiling using the Affymetrix Gene 1.0 ST platform comparing the gene expression patterns of skin fibroblasts of five EDS-HT/JHS patients with those of six healthy individuals Comparison between five EDS-HT/JHS human fibroblasts and six healthy individuals

ORGANISM(S): Homo sapiens

SUBMITTER: Nicola Chiarelli

PROVIDER: E-GEOD-77753 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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microRNA expression profile from five Ehlers-Danlos Syndrome Hypermobility type/Joint Hypermobility Syndrome (EDS-HT/JHS) patients' skin fibroblasts

Project description:To screen for potential miRNA that may contribute to the etiopathogenesis of EDS-HT/JHS miRNA expression profiling was performed using the Affymetrix GeneChipÂ® miRNA 3.0 Array and comparing the miRNA expression changes of skin fibroblasts of five EDS-HT/JHS patients with those of six healthy individuals Comparison of miRNA expression profiles between five EDS-HT/JHS human fibroblasts and six controls

2016-08-05 | E-GEOD-77756 | biostudies-arrayexpress

Microarray and miRNA expression data from five Ehlers-Danlos Syndrome Hypermobility type/Joint Hypermobility Syndrome (EDS-HT/JHS) patients' skin fibroblasts

Project description:This SuperSeries is composed of the SubSeries listed below. Refer to individual Series

2016-08-05 | E-GEOD-77758 | biostudies-arrayexpress

Microarray expression data from five Ehlers-Danlos Syndrome Hypermobility type/Joint Hypermobility Syndrome (EDS-HT/JHS) patients' skin fibroblasts

Project description:To unravel the molecular mechanisms potentially associated with the pathogenesis of the EDS-HT/JHS. Transcriptome-wide expression profiling using the Affymetrix Gene 1.0 ST platform comparing the gene expression patterns of skin fibroblasts of five EDS-HT/JHS patients with those of six healthy individuals

2016-08-05 | GSE77753 | GEO

microRNA expression profile from five Ehlers-Danlos Syndrome Hypermobility type/Joint Hypermobility Syndrome (EDS-HT/JHS) patients' skin fibroblasts

Project description:To screen for potential miRNA that may contribute to the etiopathogenesis of EDS-HT/JHS miRNA expression profiling was performed using the Affymetrix GeneChip® miRNA 3.0 Array and comparing the miRNA expression changes of skin fibroblasts of five EDS-HT/JHS patients with those of six healthy individuals

2016-08-05 | GSE77756 | GEO

Microarray expression data from three arterial tortuosity syndrome (ATS) patients' skin fibroblasts with recessive SLC2A10 mutations

Project description:To screen for candidate genes that may contribute to the pathogenesis of ATS Transcriptome-wide expression profiling using the Affymetrix Gene 1.0 ST platform comparing the gene expression patterns of skin fibroblasts of three ATS patients with those of three healthy individuals Comparison between three ATS human fibroblasts and three healthy individuals

2015-09-21 | E-GEOD-70683 | biostudies-arrayexpress

Expression data from skin fibroblasts derived from Setleis Syndrome patients and normal controls

Project description:Setleis Syndrome is a rare type of facial ectodermal dysplasia characterized by an aged leonine appearance with puckered skin about the eyes, absent eyelashes on both lids or multiple rows on the upper lids and none on the lower lids, eyebrows that slant sharply upward laterally, and a rubbery feel of the nose and chin. Some of the patients showed bilateral temporal marks superficially like forceps marks and like the lesions seen in focal facial dermal dysplasia. We have evidence that Setleis Syndrome is caused by nonsense mutations in the gene coding for the small bHLH transcription factor known as TWIST2 in Puerto Rican and Omani patients. We performed expression microarray analysis of RNA samples derived from skin fibroblasts grown from skin biopsies of Setleis Syndrome patients and normal controls in order to identify genes potentially involved in facial development and the pathogenesis of Setleis Syndrome. A total of 4 control and 4 Setleis Syndrome RNA samples were hybridized to U133 plus 2 Affymetrix 3'IVT arrays in the Mount Sinai School of Medicine Microarray Core Facility.

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Expression data from human SEMDJL1 skin fibroblasts with recessive B3GALT6 mutations (GalT-II deficiency)

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2014-06-10 | E-GEOD-58312 | biostudies-arrayexpress

microRNA expression profiles from three arterial tortuosity syndrome (ATS) patients' skin fibroblasts with recessive SLC2A10 mutations [miRNA]

Project description:To screen for potential miRNA that may contribute to the pathomechanisms of ATS miRNA expression profiling using the Affymetrix GeneChip® miRNA 3.0 Array comparing the miRNA expression changes of skin fibroblasts of three ATS patients with those of three healthy individuals Comparison of miRNA expression profiles between three ATS human fibroblasts and three healthy individuals

2015-09-21 | E-GEOD-71172 | biostudies-arrayexpress

Proteomic analysis of HT-1080 cells overexpressing protein ARGLU1

Project description:A proteomic comparison between normal HT-1080 cells and HT-1080 cells that have been stably transfected to overexpress protein arginie and glutamate rich 1 (ARGLU1).

2024-05-13 | PXD046329 | Pride

Gene expression analysis of ZNF469 mutations

Project description:Gene expression analysis with microarrays to compare mutant human fibroblast with mutations in ZNF469 versus aged-matched controls.

2013-10-05 | E-MEXP-3130 | biostudies-arrayexpress

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