Transcriptomics

Dataset Information

122

Gene expression profile of peripheral blood mononuclear cells in the X-linked alpha thalassemia mental retardation (ATRX) syndrome


ABSTRACT: ATRX is a severe X-linked disorder characterized by mental retardation, facial dysmorphism, urogenital abnormalities and alpha-thalassemia. The disease is caused by mutations in ATRX gene, which encodes a protein belonging to the SWI/SNF DNA helicase family, a group of proteins involved in the regulation of gene transcription at the chromatin level. In order to identify specific genes involved in the pathogenesis of the disease, we compared, by cDNA microarray, the expression levels of approximately 8500 transcripts between ATRX and normal males of comparable age. The analysis has been performed on pooled RNA extracted by Peripheral blood mononuclear cell pellet of three male ATRX patients in comparison to that obtained from a pool of 42 normal males (age 7.6+ 2.4).

ORGANISM(S): Homo sapiens  

SUBMITTER: Vincenza Barresi   Daniele F Condorelli 

PROVIDER: E-GEOD-22028 | ArrayExpress | 2010-12-31

SECONDARY ACCESSION(S): GSE22028PRJNA127455

REPOSITORIES: GEO, ArrayExpress

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Publications

Decreased expression of GRAF1/OPHN-1-L in the X-linked alpha thalassemia mental retardation syndrome.

Barresi Vincenza V   Ragusa Angela A   Fichera Marco M   Musso Nicolò N   Castiglia Lucia L   Rappazzo Giancarlo G   Travali Salvatore S   Mattina Teresa T   Romano Corrado C   Cocchi Guido G   Condorelli Daniele F DF  

BMC medical genomics 20100706


BACKGROUND: ATRX is a severe X-linked disorder characterized by mental retardation, facial dysmorphism, urogenital abnormalities and alpha-thalassemia. The disease is caused by mutations in ATRX gene, which encodes a protein belonging to the SWI/SNF DNA helicase family, a group of proteins involved in the regulation of gene transcription at the chromatin level. In order to identify specific genes involved in the pathogenesis of the disease, we compared, by cDNA microarray, the expression levels  ...[more]

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