Associated Papers
Biallelic variants in SLC26A2 cause multiple epiphyseal dysplasia-4 by disturbing chondrocyte homeostasis.
Li S et al.
Orphanet Journal of Rare Diseases, 2024
38956600 (PubMed )
Supplement: 13023_2024_3228_MOESM6_ESM.xlsx › Sheet1
Substrate binding plasticity revealed by Cryo-EM structures of SLC26A2.
Hu W et al.
Nature Communications, 2024
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
Role of N-glycosylation in the expression of human SLC26A2 and A3 anion transport membrane glycoproteins 1.
Rapp CL et al.
Biochemistry and Cell Biology = Biochimie Et Biologie Cellulaire, 2019
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
N-glycosylation and topology of the human SLC26 family of anion transport membrane proteins.
Li J et al.
American Journal of Physiology. Cell Physiology, 2014
Diastrophic dysplasia: prenatal diagnosis and review of the literature.
Honório JC et al.
Sao Paulo Medical Journal = Revista Paulista De Medicina, 2013
Genotype-phenotype correlation in DTDST dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family.
Dwyer E et al.
American Journal of Medical Genetics. Part A, 2010
A compound heterozygote harboring novel and recurrent DTDST mutations with intermediate phenotype between atelosteogenesis type II and diastrophic dysplasia.
Maeda K et al.
American Journal of Medical Genetics. Part A, 2006
Functional expression and cellular distribution of diastrophic dysplasia sulfate transporter (DTDST) gene mutations in HEK cells.
Karniski LP
Human Molecular Genetics, 2004
Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene: correlation between sulfate transport activity and chondrodysplasia phenotype.
Karniski LP
Human Molecular Genetics, 2001
Homozygosity for a novel DTDST mutation in a child with a 'broad bone-platyspondylic' variant of diastrophic dysplasia.
Mégarbané A et al.
Clinical Genetics, 1999
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