Associated Papers
Clinical and molecular characterization of chondrodysplasias in a cohort of Egyptian patients.
Refeat MM et al.
Scientific Reports, 2025
Biallelic variants in SLC26A2 cause multiple epiphyseal dysplasia-4 by disturbing chondrocyte homeostasis.
Li S et al.
Orphanet Journal of Rare Diseases, 2024
Substrate binding plasticity revealed by Cryo-EM structures of SLC26A2.
Hu W et al.
Nature Communications, 2024
Targeting sulfation-dependent mechanoreciprocity between matrix and osteoblasts to mitigate bone loss.
Zheng C et al.
Science Translational Medicine, 2023
SLC26A2/DTDST Spectrum: A Cohort of 12 Patients Associated with a Comprehensive Review of the Genotype-Phenotype Correlation.
Silveira C et al.
Molecular Syndromology, 2023
An Overview of in vivo Functions of Chondroitin Sulfate and Dermatan Sulfate Revealed by Their Deficient Mice.
Mizumoto S et al.
Frontiers in Cell and Developmental Biology, 2021
Phenotypic characterization of Slc26a2 mutant mice reveals a multifactorial etiology of spondylolysis.
Zheng C et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2020
Molecular analysis of human solute carrier SLC26 anion transporter disease-causing mutations using 3-dimensional homology modeling.
Rapp C et al.
Biochimica Et Biophysica Acta. Biomembranes, 2017
The utility of mouse models to provide information regarding the pathomolecular mechanisms in human genetic skeletal diseases: The emerging role of endoplasmic reticulum stress (Review).
Briggs MD et al.
International Journal of Molecular Medicine, 2015
Diastrophic dysplasia sulfate transporter (SLC26A2) is expressed in the adrenal cortex and regulates aldosterone secretion.
Spyroglou A et al.
Hypertension (dallas, Tex. : 1979), 2014
Alteration of proteoglycan sulfation affects bone growth and remodeling.
Gualeni B et al.
Bone, 2013
Matrix disruptions, growth, and degradation of cartilage with impaired sulfation.
Mertz EL et al.
The Journal of Biological Chemistry, 2012
Defective proteoglycan sulfation of the growth plate zones causes reduced chondrocyte proliferation via an altered Indian hedgehog signalling.
Gualeni B et al.
Matrix Biology : Journal of the International Society for Matrix Biology, 2010
Regulated transport of sulfate and oxalate by SLC26A2/DTDST.
Heneghan JF et al.
American Journal of Physiology. Cell Physiology, 2010
Dysplastic histogenesis of cartilage growth plate by alteration of sulphation pathway: a transgenic model.
Cornaglia AI et al.
Connective Tissue Research, 2009
A diastrophic dysplasia sulfate transporter (SLC26A2) mutant mouse: morphological and biochemical characterization of the resulting chondrodysplasia phenotype.
Forlino A et al.
Human Molecular Genetics, 2005
The SLC26 gene family of anion transporters and channels.
Alper SL et al.
Molecular Aspects of Medicine, 0