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GenomicsDysregulation of cell migration by matrix metalloproteinases in geleophysic dysplasia
Dysregulation of cell migration by matrix metalloproteinases in geleophysic dysplasia
PRJNA1240284 | ENA
ProteomicsO-Fucosylation of ADAMTSL2 Thrombospondin Type 1 Repeats is Required for Secretion and is Impacted by Geleophysic Dysplasia-Causing Mutations
A disintegrin-like and metalloprotease domain with thrombospondin type 1 repeats-like 2 (ADAMTSL2) is a matricellular protein that interacts with latent TGF-b binding protein 1 and fibrillin-1. ADAMTSL2 mutations cause an autosomal recessive connective tissue disorder named geleophysic dysplasia 1 (...
ORGANISM(S): Mus musculus (Mouse) 
2020-10-01 | PXD018902 | Pride
Geleophysic dysplasia Thrombospondin type 1 repeats Tsr glycosylation Adamtsl2 o-fucosylation 
UnknownADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation.
Not available
S-EPMC2675613 | biostudies-literature
UnknownLimb- and tendon-specific Adamtsl2 deletion identifies a role for ADAMTSL2 in tendon growth in a mouse model for geleophysic dysplasia.
Not available
S-EPMC6685762 | biostudies-literature
UnknownCase report: A homozygous ADAMTSL2 missense variant causes geleophysic dysplasia with high similarity to Weill-Marchesani syndrome.
Not available
S-EPMC9554500 | biostudies-literature
UnknownGeleophysic dysplasia: novel missense variants and insights into ADAMTSL2 intracellular trafficking.
Not available
S-EPMC6732760 | biostudies-literature
UnknownADAMTSL2 mutations determine the phenotypic severity in geleophysic dysplasia.
Not available
S-EPMC10972594 | biostudies-literature
UnknownGlucocorticoid treatment rescues early lethality in a mouse model of geleophysic dysplasia.
Not available
S-EPMC12658166 | biostudies-literature
TranscriptomicsDysregulation of cell migration by matrix metalloproteinases in geleophysic dysplasia
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 fibrob...
ORGANISM(S): Homo sapiens 
2025-06-16 | GSE292600 | GEO
UnknownO-Fucosylation of ADAMTSL2 is required for secretion and is impacted by geleophysic dysplasia-causing mutations.
Not available
S-EPMC7667967 | biostudies-literature
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