Metabolomics,Unknown,Transcriptomics,Genomics,Proteomics

Dataset Information

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Molecular profiles (HG-U95A) of dystrophin-deficient and normal human muscle


ABSTRACT: Molecular profiles of dystophin-deficient patients and normal human skeletal muscles on Affymetrix HG-U95A arrays Keywords = DMD Keywords = Duchenne muscular dystrophy Keywords = dystrophin Keywords = Affymetrix U95A array Keywords = skeletal muscle Keywords = gene expression profiles Keywords: other

ORGANISM(S): Homo sapiens

SUBMITTER: Judith Haslett 

PROVIDER: E-GEOD-1004 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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Publications

Gene expression comparison of biopsies from Duchenne muscular dystrophy (DMD) and normal skeletal muscle.

Haslett Judith N JN   Sanoudou Despina D   Kho Alvin T AT   Bennett Richard R RR   Greenberg Steven A SA   Kohane Isaac S IS   Beggs Alan H AH   Kunkel Louis M LM  

Proceedings of the National Academy of Sciences of the United States of America 20021101 23


The primary cause of Duchenne muscular dystrophy (DMD) is a mutation in the dystrophin gene leading to the absence of the corresponding RNA transcript and protein. Absence of dystrophin leads to disruption of the dystrophin-associated protein complex and substantial changes in skeletal muscle pathology. Although the histological pathology of dystrophic tissue has been well documented, the underlying molecular pathways remain poorly understood. To examine the pathogenic pathways and identify new  ...[more]

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