Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Pendred syndrome.

Pediatric endocrinology reviews : PER - 1 Dec 2003

Glaser Benjamin

Abstract excerpt

Pendred Syndrome, first described in 1896, is phenotypically characterized as the coexistence of sensorineural deafness and enlarged goiter with elevated iodine discharge after perchlorate administration. In 1996 the syndrome was mapped to chromosome 7 and the following year, the responsible gene was cloned and mutations were identified. The gene, pds, codes for a 780 amino acid protein, pendrin, which functions...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Biological Transport
Share to Goiter
Share to Hearing Loss, Sensorineural

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Iodine

Share to Membrane Transport Proteins

Share to Sulfate Transporters

Share to Syndrome

Share to Thyroid Gland

Source

Identifiers

PMID: 16444159

Provenance

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

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Pendred syndrome.PMID 16444159Read ↗

Pendred syndrome.Semantic proximity Read ↗

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

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

Genetics and phenomics of Pendred syndrome.Semantic proximity Read ↗

[Pendrin: physiology, molecular biology and clinical importance].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 ↗

The role of pendrin in iodide regulation.Semantic proximity Read ↗

Mutations in the Pendred Syndrome (PDS/SLC26A) Gene: An Increasingly Complex Phenotypic Spectrum From Goiter to Thyroid HypoplasiaSemantic proximity Read ↗

Pendrin, the Protein Encoded by the Pendred Syndrome Gene (PDS), Is an Apical Porter of Iodide in the Thyroid and Is Regulated by Thyroglobulin in FRTL-5 CellsSemantic proximity Read ↗

Hereditary hearing loss with thyroid abnormalities.Semantic proximity Read ↗

Differential diagnosis between Pendred and pseudo-Pendred syndromes: clinical, radiologic, and molecular studies.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 ↗

⌁Select a neighboring publication to make it the new centre.