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Metabolomics,Unknown,Transcriptomics,Genomics,Proteomics

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DCM_Titin_human_v1

ABSTRACT: RNA-Seq analysis of human Titin sequence variation and gene expression in DCM patients. The provided data files contain information for reads that map to human Titin only.

INSTRUMENT(S): Illumina HiSeq 2000

ORGANISM(S): Homo sapiens

SUBMITTER: Oliver Hummel

PROVIDER: E-MTAB-2466 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease.

Roberts Angharad M AM Ware James S JS Herman Daniel S DS Schafer Sebastian S Baksi John J Bick Alexander G AG Buchan Rachel J RJ Walsh Roddy R John Shibu S Wilkinson Samuel S Mazzarotto Francesco F Felkin Leanne E LE Gong Sungsam S MacArthur Jacqueline A L JA Cunningham Fiona F Flannick Jason J Gabriel Stacey B SB Altshuler David M DM Macdonald Peter S PS Heinig Matthias M Keogh Anne M AM Hayward Christopher S CS Banner Nicholas R NR Pennell Dudley J DJ O'Regan Declan P DP San Tan Ru TR de Marvao Antonio A Dawes Timothy J W TJ Gulati Ankur A Birks Emma J EJ Yacoub Magdi H MH Radke Michael M Gotthardt Michael M Wilson James G JG O'Donnell Christopher J CJ Prasad Sanjay K SK Barton Paul J R PJ Fatkin Diane D Hubner Norbert N Seidman Jonathan G JG Seidman Christine E CE Cook Stuart A SA

Science translational medicine 20150101 270

The recent discovery of heterozygous human mutations that truncate full-length titin (TTN, an abundant structural, sensory, and signaling filament in muscle) as a common cause of end-stage dilated cardiomyopathy (DCM) promises new prospects for improving heart failure management. However, realization of this opportunity has been hindered by the burden of TTN-truncating variants (TTNtv) in the general population and uncertainty about their consequences in health or disease. To elucidate the effec ...[more]

PMID: 25589632

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