publication_authors:Zoppoli P Results

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Microarray (78)

Platform

Affymetrix Human Gene 1.0 ST Array (hugene10st) (44)

Illumina HumanHT-12 V4.0 expression beadchip (reannotation) (18)

Affymetrix Human Gene 2.0 ST Array (hugene20st) (16)

Includes Publication

GSE118050

Protein Syndesmos is a novel RNA binding protein that regulates primary cilia formation

Homo sapiens
18 Downloadable Samples
Illumina HumanHT-12 V4.0 expression beadchip

Description

This SuperSeries is composed of the SubSeries listed below.

Publication Title

Protein Syndesmos is a novel RNA-binding protein that regulates primary cilia formation.

Sample Metadata Fields

Specimen part, Cell line

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GSE117680

Microarray expression data on cultured dermal fibroblasts from patients affected with classical Ehlers Danlos syndrome (cEDS)

Homo sapiens
13 Downloadable Samples
Affymetrix Human Gene 1.0 ST Array (hugene10st)

Description

Gene expression profiling of cultured skin fibroblasts obtained from patients affected with classical Ehlers Danlos syndrome (cEDS)

Publication Title

Molecular insights in the pathogenesis of classical Ehlers-Danlos syndrome from transcriptome-wide expression profiling of patients' skin fibroblasts.

Sample Metadata Fields

Specimen part, Disease

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GSE102042

Microarray expression data obtained from human skin fibroblasts derived from patients affected with vascular Ehlers Danlos syndrome (vEDS)

Homo sapiens
12 Downloadable Samples
Affymetrix Human Gene 1.0 ST Array (hugene10st)

Description

Analysis of gene expression profiling of cultured skin fibroblasts obtained from patients affected with vascular Ehlers Danlos syndrome (vEDS)

Publication Title

Transcriptome analysis of skin fibroblasts with dominant negative COL3A1 mutations provides molecular insights into the etiopathology of vascular Ehlers-Danlos syndrome.

Sample Metadata Fields

Disease

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GSE70683

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

Homo sapiens
6 Downloadable Samples
Affymetrix Human Gene 1.0 ST Array (hugene10st)

Description

To screen for candidate genes that may contribute to the pathogenesis of ATS

Publication Title

GLUT10 deficiency leads to oxidative stress and non-canonical αvβ3 integrin-mediated TGFβ signalling associated with extracellular matrix disarray in arterial tortuosity syndrome skin fibroblasts.