Associated Papers
Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.
Huang Q et al.
Human Genomics, 2024
Biallelic variants in SLC26A2 cause multiple epiphyseal dysplasia-4 by disturbing chondrocyte homeostasis.
Li S et al.
Orphanet Journal of Rare Diseases, 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
Clinical and Genetic Characteristics of Multiple Epiphyseal Dysplasia Type 4.
Markova T et al.
Genes, 2022
SLC26A2-Associated Diastrophic Dysplasia and rMED-Clinical Features in Affected Finnish Children and Review of the Literature.
Härkönen H et al.
Genes, 2021
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
Effect of SLC26 anion transporter disease-causing mutations on the stability of the homologous STAS domain of E. coli DauA (YchM).
Bai X et al.
The Biochemical Journal, 2016
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
Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution.
Jackson GC et al.
Human Mutation, 2012
New intermediate phenotype between MED and DD caused by compound heterozygous mutations in the DTDST gene.
Czarny-Ratajczak M 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
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
Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias.
Hästbacka J et al.
American Journal of Human Genetics, 1996