Metabolomics,Unknown,Transcriptomics,Genomics,Proteomics

Dataset Information

Whole genome expression analysis of a skin biopsy from an individual with multi-organ epithelial inflammation associated with an inherited loss-of-function mutation in EGFR

ABSTRACT: Whole-genome expression microarray analysis was performed using RNA extracted from skin biopsies sampled from the affected child as well as 4 pooled, healthy controls. The hypothesis was that the downstream effects of the inherited EGFR loss-of-function mutation in the infant would be evident by enriched pathways and processess linked to the cutaneous roles of the epidemermal growth factor receptor (EGFR). Functional analysis of the results identified a multitude of enriched gene ontology (GO) processes, pathways, networks and disease-associated transcripts germane to EGFR signaling in the infant's sample compared to controls. The top 3 up-regulated GO processes were linked to known EGFR functionality: keratinocyte differentiation, keratinization and epidermis development. Innate inflammatory response gene components were among the most significantly up-regulated GO networks. Additionally, regulation of epithelial-to-mesenchymal transition and angiogenesis, processes known to be controlled by EGFR activation, were identified as significantly down-regulated GO pathways and processes, respectively. There was also down-regulation of transcripts that are normally increased in tumors which show gain-of-function mutations in EGFR (e.g. non-small cell lung cancer, colorectal cancer, and glioblastoma). Total RNA extracted from a skin biopsy of the infant was compared to skin biopsies from 4 pooled, healthy controls.

ORGANISM(S): Homo sapiens

SUBMITTER: Venu Pullabhatla

PROVIDER: E-GEOD-54162 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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Publications

Epithelial inflammation resulting from an inherited loss-of-function mutation in EGFR.

Campbell Patrick P Morton Penny E PE Takeichi Takuya T Salam Amr A Roberts Nerys N Proudfoot Laura E LE Mellerio Jemima E JE Aminu Kingi K Wellington Cheryl C Patil Sachin N SN Akiyama Masashi M Liu Lu L McMillan James R JR Aristodemou Sophia S Ishida-Yamamoto Akemi A Abdul-Wahab Alya A Petrof Gabriela G Fong Kenneth K Harnchoowong Sarawin S Stone Kristina L KL Harper John I JI Irwin McLean W H WH Simpson Michael A MA Parsons Maddy M McGrath John A JA

The Journal of investigative dermatology 20140401 10

Epidermal growth factor receptor (EGFR) signaling is fundamentally important for tissue homeostasis through EGFR/ligand interactions that stimulate numerous signal transduction pathways. Aberrant EGFR signaling has been reported in inflammatory and malignant diseases, but thus far no primary inherited defects in EGFR have been recorded. Using whole-exome sequencing, we identified a homozygous loss-of-function missense mutation in EGFR (c.1283 G>A; p.Gly428Asp) in a male infant with lifelong infl ...[more]

PMID: 24691054

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Dataset Information

Whole genome expression analysis of a skin biopsy from an individual with multi-organ epithelial inflammation associated with an inherited loss-of-function mutation in EGFR

Publications

Epithelial inflammation resulting from an inherited loss-of-function mutation in EGFR.

Similar Datasets

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