Pendred syndrome

JL Wémeau, P Kopp - Best Practice & Research Clinical Endocrinology & …, 2017 - Elsevier
Pendred syndrome is an autosomal recessive disorder that is classically defined by the
combination of sensorineural deafness/hearing impairment, goiter, and an abnormal …

Genetics and phenomics of Pendred syndrome

A Bizhanova, P Kopp - Molecular and cellular endocrinology, 2010 - Elsevier
Pendred syndrome is an autosomal recessive disorder characterized by sensorineural
deafness, goiter and a partial defect in iodide organification. Goiter development and …

Pendred syndrome and iodide transport in the thyroid

P Kopp, L Pesce, JC Solis-S - Trends in Endocrinology & Metabolism, 2008 - cell.com
Pendred syndrome is an autosomal recessive disorder characterized by sensorineural
hearing impairment, presence of goiter, and a partial defect in iodide organification, which …

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

JP Taylor, RA Metcalfe, PF Watson… - The Journal of …, 2002 - academic.oup.com
Pendred syndrome (PDS) is an autosomal recessive disorder characterized by deafness
and goiter. Phenotypic heterogeneity is observed in affected individuals, and thyroid …

Life-threatening metabolic alkalosis in Pendred syndrome

N Kandasamy, L Fugazzola, M Evans… - European journal of …, 2011 - academic.oup.com
Introduction Pendred syndrome, a combination of sensorineural deafness, impaired
organification of iodide in the thyroid and goitre, results from biallelic defects in pendrin …

Clinical and molecular analysis of three Mexican families with Pendred's syndrome

O Gonzalez Trevino… - European journal of …, 2001 - academic.oup.com
Abstract Background The autosomal recessive Pendred's syndrome is defined by congenital
sensorineural deafness, goiter, and impaired iodide organification. It is caused by mutations …

Pendred's syndrome: identification of the genetic defect a century after its recognition

P Kopp - Thyroid, 1999 - liebertpub.com
Pendred's syndrome is an autosomal recessive disease characterized by goiter and
congenital sensorineural deafness. Most patients with Pendred's syndrome are euthyroid …

Molecular and functional characterization of human pendrin and its allelic variants

S Dossena, C Nofziger, G Tamma… - Cellular Physiology and …, 2011 - karger.com
Abstract Pendrin (SLC26A4, PDS) is an electroneutral anion exchanger transporting I-, Cl-,
HCO3-, OH-, SCN-and formate. In the thyroid, pendrin is expressed at the apical membrane …

[HTML][HTML] Functional characterization of pendrin in a polarized cell system: evidence for pendrin-mediated apical iodide efflux

MP Gillam, AR Sidhaye, EJ Lee, J Rutishauser… - Journal of Biological …, 2004 - ASBMB
Pendred's syndrome is an autosomal recessive disorder characterized by sensorineural
deafness, goiter, and impaired iodide organification. It is caused by mutations in the …

Controversies concerning the role of pendrin as an apical iodide transporter in thyroid follicular cells

A Bizhanova, P Kopp - Cellular Physiology and Biochemistry, 2011 - karger.com
Pendred syndrome is an autosomal recessive disorder defined by sensorineural deafness,
goiter and a partial organification defect of iodide. It is caused by biallelic mutations in the …