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
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
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
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
Autosomal recessive multiple epiphyseal dysplasia in a Korean girl caused by novel compound heterozygous mutations in the DTDST (SLC26A2) gene.
Cho TJ et al.
Journal of Korean Medical Science, 2010
Functional expression and cellular distribution of diastrophic dysplasia sulfate transporter (DTDST) gene mutations in HEK cells.
Karniski LP
Human Molecular Genetics, 2004
The SLC26 gene family of multifunctional anion exchangers.
Mount DB et al.
Pflugers Archiv : European Journal of Physiology, 2004
Human 3'-phosphoadenosine 5'-phosphosulfate (PAPS) synthase: biochemistry, molecular biology and genetic deficiency.
Venkatachalam KV
Iubmb Life, 2003
Achondrogenesis type IB: agenesis of cartilage interterritorial matrix as the link between gene defect and pathological skeletal phenotype.
Corsi A et al.
Archives of Pathology & Laboratory Medicine, 2001
Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene: correlation between sulfate transport activity and chondrodysplasia phenotype.
Karniski LP
Human Molecular Genetics, 2001
Infantile systemic hyalinosis in siblings: clinical report, biochemical and ultrastructural findings, and review of the literature.
Stucki U et al.
American Journal of Medical Genetics, 2001
Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance.
Rossi A et al.
Human Mutation, 2001
Homologous mutations in two diverse sulphate transporters have similar effects.
Khurana OK et al.
Febs Letters, 2000
The long and the short of it: developmental genetics of the skeletal dysplasias.
Dreyer SD et al.
Clinical Genetics, 1998
Mutations in orthologous genes in human spondyloepimetaphyseal dysplasia and the brachymorphic mouse.
Faiyaz ul Haque M et al.
Nature Genetics, 1998
Mutational analysis of the DTDST gene in a fetus with achondrogenesis type 1B.
Cai G et al.
American Journal of Medical Genetics, 1998
Diastrophic dysplasia sulfate transporter (DTDST) gene is not involved in pseudodiastrophic dysplasia.
Cetta G et al.
American Journal of Medical Genetics, 1997
Undersulfation of cartilage proteoglycans ex vivo and increased contribution of amino acid sulfur to sulfation in vitro in McAlister dysplasia/atelosteogenesis type 2.
Rossi A et al.
European Journal of Biochemistry, 1997
Phenotypic and genotypic overlap between atelosteogenesis type 2 and diastrophic dysplasia.
Rossi A et al.
Human Genetics, 1996
Undersulfation of proteoglycans synthesized by chondrocytes from a patient with achondrogenesis type 1B homozygous for an L483P substitution in the diastrophic dysplasia sulfate transporter.
Rossi A et al.
The Journal of Biological Chemistry, 1996
A chondrodysplasia family produced by mutations in the diastrophic dysplasia sulfate transporter gene: genotype/phenotype correlations.
Superti-Furga A et al.
American Journal of Medical Genetics, 1996