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Article

ADAMTS10-mediated tissue disruption in Weill-Marchesani syndrome.

Human molecular genetics - 1 Nov 2018

Mularczyk Ewa J, Singh Mukti, Godwin Alan R F, Galli Francessco, Humphreys Neil, Adamson Antony D, Mironov Aleksandr, Cain Stuart A, Sengle Gerhard, Boot-Handford Ray P, Cossu Giulio, Kielty Cay M, Baldock Clair

Abstract excerpt

Fibrillin microfibrils are extracellular matrix assemblies that form the template for elastic fibres, endow blood vessels, skin and other elastic tissues with extensible properties. They also regulate the bioavailability of potent growth factors of the TGF-β superfamily. A disintegrin and metalloproteinase with thrombospondin motifs (ADAMTS)10 is an essential factor in fibrillin microfibril function. Mutations in...

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Source

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Identifiers

PMID: 30060141
DOI: 10.1093/hmg/ddy276
PMCID: PMC6196651

Genes

ADAMTS10
SMAD1

Provenance

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Related research

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ADAMTS10-mediated tissue disruption in Weill-Marchesani syndrome.PMID 30060141Read ↗

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