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TranscriptomicsAnalysis of the IRE1/XBP1 unfolded protein response (UPR) pathway in Schmid metaphyseal chondrodysplasia hypertrophic chondrocyte endoplasmic reticulum (ER) stress
We set out to determine the role of the IRE1/XBP1 pathway, the most ancient and highly conserved endoplasmic reticulum (ER) stress-sensing pathway of the unfolded protein response (UPR), in Schmid metaphyseal chondrodysplasia (MCDS). RNA derived from hypertrophic zones microdissected from growth pla...
ORGANISM(S): Mus musculus 
2015-08-21 | E-GEOD-72261 | biostudies-arrayexpress
UnknownA Venezuelan Case of Schmid-Type Metaphyseal Chondrodysplasia with a Novel Mutation in COL10A1.
Not available
S-EPMC6528095 | biostudies-literature
ProteomicsLabel free quantitative proteomics reveals survival mechanisms developed by Hypertrophic chondrocytes under ER stress
Emerging evidence implicates ER stress caused by unfolded mutant proteins in chondrocytes as the underlying pathology of chondrodysplasias. ER stress is triggered in hypertrophic chondrocytes (HCs) in a mouse model (13del) of metaphyseal chondrodysplasia type Schmid (MCDS) caused by misfolded mutan...
ORGANISM(S): Mus musculus (Mouse) 
2015-11-25 | PXD002125 | Pride
Metaphyseal chondrodysplasia type schmid Mitochondrial membrane polarity Glycolysis Calcium signaling 
UnknownClinical, Molecular Characteristics, and Genotype-Phenotype Relationships of Metaphyseal Chondrodysplasia Type Schmid.
Not available
S-EPMC12743679 | biostudies-literature
UnknownA Collagen10a1 mutation disrupts cell polarity in a medaka model for metaphyseal chondrodysplasia type Schmid.
Not available
S-EPMC10952040 | biostudies-literature
TranscriptomicsGene expression analysis of ER-stressed growth plate chondrocytes in two mouse models of Schmid chondrodysplasia
We set out to generate transcriptional maps of chondrocyte UPR gene networks in vivo using two mouse models (Schmid and Cog) of Schmid chondrodysplasia, in order to define the consequences of UPR activation for the adaptation, differentiation, and survival of chondrocytes experiencing ER stress duri...
ORGANISM(S): Mus musculus 
2012-01-01 | E-GEOD-30628 | biostudies-arrayexpress
UnknownIdentification of two novel COL10A1 heterozygous mutations in two Chinese pedigrees with Schmid-type metaphyseal chondrodysplasia.
Not available
S-EPMC6923838 | biostudies-literature
UnknownCharacterization of a novel COL10A1 variant associated with Schmid-type metaphyseal chondrodysplasia and a literature review.
Not available
S-EPMC8172203 | biostudies-literature
UnknownA novel missense COL10A1 mutation: c.2020G>A; p. Gly674Arg linked with the bowed legs stature in the Schmid metaphyseal chondrodysplasia-affected Chinese lineage.
Not available
S-EPMC6950639 | biostudies-literature
UnknownInhibiting the integrated stress response pathway prevents aberrant chondrocyte differentiation thereby alleviating chondrodysplasia.
Not available
S-EPMC6053305 | biostudies-literature
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