Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene

1996/01/01 by Andrea Superti-Furga, Andrea Superti‐Furga, Johanna Hästbacka +10 · 13 citations
Biochemistry, Genetics and Molecular Biology · Medicine · #Allele #Anatomy #Biology #Bone health and treatments #Cartilage #Chondrodysplasia punctata #Connective tissue disorders research #Dysplasia #Endocrinology #Gene #Genetics #Molecular biology #Mutation #Phenotype #Proteoglycans and glycosaminoglycans research #Sulfation #Transporter

paper · doi:10.1038/ng0196-100

crossref issued 1996/01/01 · crossref published 1996/01/01 · crossref published-print 1996/01/01 · openalex publication_date 1996/01/01 · crossref created 2004/08/18 · crossref deposited 2023/05/18 · openalex created_date 2025/10/10 · crossref indexed 2026/06/03 · openalex updated_date 2026/08/01

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• A diastrophic dysplasia sulfate transporter (SLC26A2) mutant mouse: morphological and biochemical characterization of the resulting chondrodysplasia phenotype
• Functional expression and cellular distribution of diastrophic dysplasia sulfate transporter (DTDST) gene mutations in HEK cells
• The congenital chloride diarrhea gene is expressed in seminal vesicle, sweat gland, inflammatory colon epithelium, and in some dysplastic colon cells
• Protein localization of SLC26A2 (DTDST) in rat kidney
• Proteoglycan sulfation in cartilage and cell cultures from patients with sulfate transporter chondrodysplasias: Relationship to clinical severity and indications on the role of intracellular sulfate production
• Functional Analysis of Diastrophic Dysplasia Sulfate Transporter
• Solute Carrier Family 26 Member a2 (Slc26a2) Protein Functions as an Electroneutral SO42−/OH−/Cl− Exchanger Regulated by Extracellular Cl−
• Identification of the Finnish founder mutation for diastrophic dysplasia (DTD)
• Physiological Roles and Regulation of Mammalian Sulfate Transporters
• SLC26A2 (Diastrophic Dysplasia Sulfate Transporter) is Expressed in Developing and Mature Cartilage But Also in Other Tissues and Cell Types
• Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: Double‐layer patella as a reliable sign
• Andrea Superti-Furga [wikipedia]
• Sulfate transporter [wikipedia]