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Metabolomics,Unknown,Transcriptomics,Genomics,Proteomics

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RNA-seq of ppp1r13l knockdown in neonatal mice cardiomyocytes and lipopolysaccharide stimulation kinetics transcriptome

ABSTRACT: A novel ppp1r13l sequence variation causes dilated cardiomyopathy and cardiac inflammation. In this experiment we knocked down IASPP (protein product of ppp1r13l) in cardiomyocytes and exposed them to lipopolysaccharide for time interval of 2 and 4 hours. Transcriptome was examined using rna-seq high-throughput sequencing.

INSTRUMENT(S): Illumina HiSeq 2500

ORGANISM(S): Mus musculus

SUBMITTER: Yiftah Barsheshet

PROVIDER: E-MTAB-5826 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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Sequence variation in <i>PPP1R13L</i> results in a novel form of cardio-cutaneous syndrome.

Falik-Zaccai Tzipora C TC Barsheshet Yiftah Y Mandel Hanna H Segev Meital M Lorber Avraham A Gelberg Shachaf S Kalfon Limor L Ben Haroush Shani S Shalata Adel A Gelernter-Yaniv Liat L Chaim Sarah S Raviv Shay Dorith D Khayat Morad M Werbner Michal M Levi Inbar I Shoval Yishay Y Tal Galit G Shalev Stavit S Reuveni Eli E Avitan-Hersh Emily E Vlodavsky Eugene E Appl-Sarid Liat L Goldsher Dorit D Bergman Reuven R Segal Zvi Z Bitterman-Deutsch Ora O Avni Orly O

EMBO molecular medicine 20170301 3

Dilated cardiomyopathy (DCM) is a life-threatening disorder whose genetic basis is heterogeneous and mostly unknown. Five Arab Christian infants, aged 4-30 months from four families, were diagnosed with DCM associated with mild skin, teeth, and hair abnormalities. All passed away before age 3. A homozygous sequence variation creating a premature stop codon at <i>PPP1R13L</i> encoding the iASPP protein was identified in three infants and in the mother of the other two. Patients' fibroblasts and < ...[more]

PMID: 28069640

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