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Article

Molecular analysis of the PDS gene in Pendred syndrome.

Human molecular genetics - 1 Jul 1998

Coyle B, Reardon W, Herbrick J A, Tsui L C, Gausden E, Lee J, Coffey R, Grueters A, Grossman4 A, Phelps P D, Luxon L, Kendall-Taylor P, Scherer S W, Trembath R C

Abstract excerpt

Pendred syndrome is an autosomal recessive disorder characterized by the association between sensorineural hearing loss and thyroid swelling or goitre and is likely to be the most common form of syndromic deafness. Within the thyroid gland of affected individuals, iodide is incompletely organified with variable effects upon thyroid hormone biosynthesis, whilst the molecular basis of the hearing loss is unknown....

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Identifiers

PMID: 9618167
DOI: 10.1093/hmg/7.7.1105

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Molecular analysis of the PDS gene in Pendred syndrome.PMID 9618167Read ↗

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

Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4).Semantic proximity Read ↗

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

Clinical and molecular characteristics of Pendred syndrome.Semantic proximity Read ↗

Pendred syndrome.Semantic proximity Read ↗

Genetics and phenomics of Pendred syndrome.Semantic proximity Read ↗

Mutations of the PDS gene, encoding pendrin, are associated with protein mislocalization and loss of iodide efflux: implications for thyroid dysfunction in Pendred syndrome.Semantic proximity Read ↗

Mutations of the PDS Gene, Encoding Pendrin, Are Associated with Protein Mislocalization and Loss of Iodide Efflux: Implications for Thyroid Dysfunction in Pendred SyndromeSemantic proximity Read ↗

Molecular and functional characterization of human pendrin and its allelic variants.Semantic proximity Read ↗

Pendred syndrome in a large consanguineous Brazilian family caused by a homozygous mutation in the SLC26A4 gene.Semantic proximity Read ↗

Clinical and molecular analysis of three Mexican families with Pendred's syndrome.Semantic proximity Read ↗

Pendred syndrome: phenotypic variability in two families carrying the same PDS missense mutation.Semantic proximity Read ↗

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