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1. Center for Medical Biotechnology, VIB, Ghent, Belgium. 2. Department for Biomolecular Medicine, Ghent University, Ghent, Belgium 3. VIB Proteomics Core, VIB, Ghent, Belgium (1)
IGBMC, Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France, UMR7104, UMR-S 1258. (1)
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Laboratory of Experimental Cancer Research, Department of Radiation Oncology and Experimental Cancer Research,Ghent University, Ghent, Belgium (1)

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

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, F...

ORGANISM(S): Danio rerio

2021-01-29 | E-MTAB-8824 | biostudies-arrayexpress

Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity.

Not available

S-EPMC3599008 | biostudies-literature

Loss of zebrafish atp6v1e1b, encoding a subunit of vacuolar ATPase, recapitulates human ARCL type 2C syndrome and identifies multiple pathobiological signatures.

Not available

S-EPMC8244898 | biostudies-literature

Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa.

Not available

S-EPMC5294668 | biostudies-literature

Inverse-Designed Broadband All-Dielectric Electromagnetic Metadevices.