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Metabolomics,Unknown,Transcriptomics,Genomics,Proteomics

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Expression data: Venous malformation-causative TIE2-mutations mediate an AKT-dependent decrease in PDGFB

ABSTRACT: Comparison of transcriptional profiles of human umbilical vein endothelial cells (HUVECs) expressing wild-type vs. VM-causative mutant forms of TIE2/TEK. The effects of the most common Venous Malformation-causative mutations in the endothelial cell tyrosine kinase receptor: R849W and L914F, were tested. 743 genes were differentially expressed across the four groups. The 80 genes distinguishing between L914F and wild-type TIE2-expressing HUVECs were analyzed in greater detail. 3 batches each of: non-transfected, and wild-type TIE2, R849W-TIE2, and L914F-TIE2 overexpressing HUVECs were compared by exon-array profiling.

ORGANISM(S): Homo sapiens

SUBMITTER: Miikka Vikkula

PROVIDER: E-GEOD-46684 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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Venous malformation-causative TIE2 mutations mediate an AKT-dependent decrease in PDGFB.

Uebelhoer Melanie M Nätynki Marjut M Kangas Jaakko J Mendola Antonella A Nguyen Ha-Long HL Soblet Julie J Godfraind Catherine C Boon Laurence M LM Eklund Lauri L Limaye Nisha N Vikkula Miikka M

Human molecular genetics 20130430 17

Mutations in the endothelial cell (EC) tyrosine kinase receptor TIE2 cause inherited and sporadic forms of venous malformation. The recurrent somatic mutation L914F and common germline mutation R849W differ in terms of phosphorylation level, as well as sub-cellular localization and trafficking of the receptor. Previous studies have shed light on certain pathogenic properties of R849W, but the mechanisms of action of L914F are unknown. We used global gene expression profiling to study the effects ...[more]

PMID: 23633549

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