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
SLC26A2-Associated Diastrophic Dysplasia and rMED-Clinical Features in Affected Finnish Children and Review of the Literature.
Härkönen H et al.
Genes, 2021
Genome scale analysis of pathogenic variants targetable for single base editing.
Lavrov AV et al.
Bmc Medical Genomics, 2020
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 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
Diastrophic dysplasia: prenatal diagnosis and review of the literature.
Honório JC et al.
Sao Paulo Medical Journal = Revista Paulista De Medicina, 2013
Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population.
Barbosa M et al.
Clinical Genetics, 2011
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
Structure and function of a model member of the SulP transporter family.
Loughlin P et al.
Cell Biochemistry and Biophysics, 2002
Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene: correlation between sulfate transport activity and chondrodysplasia phenotype.
Karniski LP
Human Molecular 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
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
Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene.
Superti-Furga A et al.
Nature Genetics, 1996