Dataset Information
RNA-seq of BALB/cJ‐Ppp1r13lwa3/J (wa3) mouse hearts vs BALB/C wildtype mice aged 7 weeks and 12 weeks mice, as well as lipopolysaccharide treatment for 12-week-old mice
Ontology highlight
ABSTRACT:
INSTRUMENT(S): Illumina HiSeq 2500
ORGANISM(S): Mus musculus
SUBMITTER: Yiftah Barsheshet
PROVIDER: E-MTAB-5812 | biostudies-arrayexpress |
REPOSITORIES: biostudies-arrayexpress
Publications
Sequence variation in <i>PPP1R13L</i> results in a novel form of cardio-cutaneous syndrome.
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]
