Mutations of the PDS gene, encoding pendrin, are associated with protein mislocalization and loss of iodide efflux: Implications for thyroid dysfunction in pendred syndrome

Journal of Clinical Endocrinology and Metabolism

Volumn 87, Issue 4, 2002, Pages 1778-1784

  Taylor, Julie P ^a,b   Metcalfe, Russell A ^a   Watson, Philip F ^a   Weetman, Anthony P ^a   Trembath, Richard C ^a,b  

^a UNIVERSITY OF LEICESTER   (United Kingdom)

^b UNIVERSITY OF SHEFFIELD   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

GREEN FLUORESCENT PROTEIN; IODIDE; PENDRIN; SODIUM IODIDE;

ANION TRANSPORT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; ENDOPLASMIC RETICULUM; ENVIRONMENTAL FACTOR; GENE MUTATION; GOITER; HEARING IMPAIRMENT; HEREDITY; HUMAN; HUMAN CELL; MISSENSE MUTATION; PENDRED SYNDROME; PHENOTYPE; PRIORITY JOURNAL; PROTEIN LOCALIZATION; THYROID DISEASE; THYROID FOLLICLE; THYROID FUNCTION;

MAMMALIA;

EID: 0036283790     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jcem.87.4.8435     Document Type: Article

References (40)

1. Association of congenital deafness with goitre (Pendred's syndrome): A study of 207 families
2. Deaf-mutism and goitre
3. Prevalence, age of onset, and natural history of thyroid disease in Pendred syndrome
4. Radiological malformations of the ear in Pendred syndrome
5. Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4
6. Pendred syndrome maps to chromosome 7q21-34 and is caused by an intrinsic defect in thyroid iodine orgarnification
7. Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)
8. Enlarged-vestibular aqueduct: A radiological marker of Pendred syndrome, and mutation of the PDS gene
9. Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations
10. Molecular analysis of the PDS gene in Pendred syndrome
11. Non-syndromic hearing loss associated with erlarged vestibular aqueduct is caused by PDS mutations
12. Identification of two different mutations in the PDS gene in an inbred family with Pendred syndrome
13. A mutation in PDS causes non-syndromic recessive deafness
14. Clinical and molecular analysis of three Mexican families with Pendred's syndrome
15. 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 cells
16. Prestinis the motor protein of cochlear outer hair cells
17. A family of mammalian anion transporters and their involvement in human genetic diseases
18. Genetic disorders of membrane transport III. Congenital chloride diarrhea
19. The Pendred syndrome gene encodes a chloride-iodide transport protein
20. Expression of pendrin and the Pendred syndrome (PDS) gene in human thyroid tissues
21. Molecular study of the sodium-iodide symporter (NIS): A new field in thyroidology
22. Targeted disruption of mouse Pds provides insight about the inner-ear defects encountered in Pendred syndrome
23. Detection of binding and blocking autoantibodies to the human sodium-iodide symporter in patients with autoimmune thyroid disease
24. The modulation of the human sodium iodide symporter activity, by Graves' disease sera
25. Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis
26. Misfolding of mutant aquaporin-2 water channels in nephrogenic diabetes insipidus
27. Trafficking and folding defects in hereditary spherocytosis mutants of the human red cell anion exchanger
28. Pendred syndrome: Phenotypic variability in two families carrying the same PDS missense mutation
29. Splice-site mutation in the PDS gene may result in intrafamilial variability for deafness in Pendred syndrome
30. Human pendrin expressed in Xenopus laevis oocytes mediates chloride/formate exchange
31. Pendrin, encoded by the Pendred syndrome gene, resides in the apical region of renal intercalated cells and mediates bicarbonate secretion
32. Pendrin: An apical C1-/OH-/HCO3-exchanger in the kidney cortex
33. Two frequent missense mutations in Pendred syndrome
34. Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4)
35. Inherited primary hypothyroidism in mice
36. A mouse model for hereditary thyroid dysgenesis and cleft palate
37. The T/ebp null mouse: Thyroid-specific enhancer-binding protein is essential for the organogenesis of the thyroid, lung, ventral forebrain, and pituitary
38. Iodide transport in primary cultured thyroid follicle cells: Evidence of a TSH-regulated channel mediating iodide efflux selectively across the apical domain of the plasma membrane
39. Effect of thyrotropin on iodide efflux in FRTL-5 cells mediated by Ca2+
40. The iodide channel of the thyroid: A plasma membrane vesicle study