RNA-seq of whole tissue of 3 days post fertilization atp6v1e1b-deficient zebrafish larvae and wild-type controls

ABSTRACT: Cutis laxa (CL) syndromes are a heterogenous group of connective tissue disorders that share a loose, redundant skin as a common clinical feature. The systemic features vary among the different subtypes. CL is caused by mutations in genes encoding for components of the extracellular matrix (FBLN4, FBLN5, LTBP4 and ELN), encoding for elastin-modifying enzymes (ATP7A) or encoding for components that influence cellular trafficking and metabolism (ATP6V1E1, ATP6V1A, ATP6V0A2, ALDH18A1, RIN2, GORAB, PYCR1 and SLC2A10). ATP6V1E1–related CL cause loose redundant skin folds, variable mental disability, typical facial characteristics, lipodystrophy, hypotonia, and cardiopulmonary involvement including pneumothorax, hypertrophic cardiomyopathy and aortic root dilatation. The intent of this study is

INSTRUMENT(S): Illumina HiSeq 3000

ORGANISM(S): Danio rerio

SUBMITTER: Lore Pottie 

PROVIDER: E-MTAB-8824 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress