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Article

Surprising news: a putative sulfate transporter is defective in Pendred's syndrome.

European journal of endocrinology - 1 Jun 1998

Rutishauser J, Kopp P

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Share to Chromosomes, Human, Pair 7
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 9678527
DOI: 10.1530/eje.0.1380623

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Surprising news: a putative sulfate transporter is defective in Pendred's syndrome.PMID 9678527Read ↗

Two Frequent Missense Mutations in Pendred SyndromeSemantic proximity Read ↗

Genetics and pathophysiology of mammalian sulfate biology.Semantic proximity Read ↗

Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS).Semantic proximity Read ↗

From Genotype to Phenotype: Nonsense Variants in SLC13A1 Are Associated with Decreased Serum Sulfate and Increased Serum Aminotransferases.Semantic proximity Read ↗

Pendred's Syndrome: Identification of the Genetic Defect a Century After Its RecognitionSemantic proximity Read ↗

Molecular analysis of sequence and splice variants of the human SLC13A4 sulfate transporter.Semantic proximity Read ↗

Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance.Semantic proximity Read ↗

Biallelic variants in the SLC13A1 sulfate transporter gene cause hyposulfatemia with a mild spondylo‐epi‐metaphyseal dysplasiaSemantic proximity Read ↗

Decreasing activity and altered protein processing of human iduronate-2-sulfatase mutations demonstrated by expression in COS7 cells.Semantic proximity Read ↗

Sulfate transport is not impaired in pendred syndrome thyrocytes.Semantic proximity Read ↗

The Human Renal Sodium Sulfate Cotransporter (SLC13A1; hNaSi-1) cDNA and Gene: Organization, Chromosomal Localization, and Functional CharacterizationSemantic proximity Read ↗

A family of chondrodysplasias caused by mutations in the diastrophic dysplasia sulfate transporter gene and associated with impaired sulfation of proteoglycans.Semantic proximity Read ↗

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