Article

Dysregulation of cell migration by matrix metalloproteinases in geleophysic dysplasia

2025-02-03

Abstract excerpt

Geleophysic dysplasia (GD) is characterized by short stature, brachydactyly, joint limitations, a distinctive facial appearance, as well as cardiac and respiratory dysfunction that can be life-threatening. GD is caused by pathogenic variants in the ADAMTSL2 , FBN1, or LTBP3 genes. While dermal fibroblasts derived from affected individuals have shown poor organization of the extracellular matrix (ECM), it remain...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: de04d2a1-4098-512d-b9c0-6edf70c69f7c
DOI: 10.1101/2025.01.30.635317

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Dysregulation of cell migration by matrix metalloproteinases in geleophysic dysplasiaDOI 10.1101/2025.01.30.635317Read

Dysregulation of cell migration by matrix metalloproteinases in geleophysic dysplasiaSemantic proximity Read

The Pathogenic ADAMTSL2 D167N Variant Causes Geleophysic Dysplasia-Like Connective Tissue Changes in Mice.Semantic proximity Read

Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia.Semantic proximity Read

Losartan shows limited benefit in preclinical models of Geleophysic dysplasiaSemantic proximity Read

Combined ADAMTS10 and ADAMTS17 inactivation exacerbates bone shortening and skin phenotypes.Semantic proximity Read

Geleophysic dysplasia and Weill-Marchesani syndrome: ADAMTSL2 a possible common gene.Semantic proximity Read

Combined ADAMTS10 and ADAMTS17 inactivation exacerbates bone shortening and compromises extracellular matrix formationSemantic proximity Read

<i>Adamtsl2</i> deletion results in bronchial fibrillin microfibril accumulation and bronchial epithelial dysplasia – a novel mouse model providing insights into geleophysic dysplasiaSemantic proximity Read

Geleophysic and acromicric dysplasias: natural history, genotype-phenotype correlations, and management guidelines from 38 cases.Semantic proximity Read

ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation.Semantic proximity Read

Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias.Semantic proximity Read

Acromelic dysplasias: how rare musculoskeletal disorders reveal biological functions of extracellular matrix proteinsSemantic proximity Read