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

IE Royaux, K Suzuki, A Mori, R Katoh, LA Everett… - …, 2000 - academic.oup.com
Pendred syndrome is an autosomal recessive disorder characterized by congenital
deafness and thyroid goiter. The thyroid disease typically develops around puberty and is …

A novel mutation in the pendrin gene associated with Pendred's syndrome

F Bogazzi, F Raggi, F Ultimieri… - Clinical …, 2000 - Wiley Online Library
OBJECTIVE Pendred's syndrome is an autosomal recessive disorder characterized by
goitre, sensorineural deafness and iodide organification defect. It is one of the most frequent …

Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype–phenotype correlations

C Campbell, RA Cucci, S Prasad, GE Green… - Human …, 2001 - Wiley Online Library
Abstract Mutations in PDS (SLC26A4) cause both Pendred syndrome and DFNB4, two
autosomal recessive disorders that share hearing loss as a common feature. The hearing …

Correlation between genotype and phenotype in patients with bi‐allelic SLC26A4 mutations

HJ Lee, J Jung, JW Shin, MH Song, SH Kim… - Clinical …, 2014 - Wiley Online Library
Mutation of SLC26A4 is the most common cause of prelingual hearing loss in East Asia.
Patients with SLC26A4 mutations have variable phenotypes ranging from non‐syndromic …

The sodium-iodide symporter NIS and pendrin in iodide homeostasis of the thyroid

A Bizhanova, P Kopp - Endocrinology, 2009 - academic.oup.com
Thyroid hormones are essential for normal development and metabolism. Thyroid hormone
biosynthesis requires iodide uptake into the thyrocytes and efflux into the follicular lumen …

Pendred syndrome among patients with congenital hypothyroidism detected by neonatalscreening: identification of two novel PDS/SLC26A4 mutations

K Banghova, EA Taji, O Cinek, D Novotna… - European journal of …, 2008 - Springer
Pendred syndrome is an autosomal recessive disorder characterised by sensorineural
hearing loss and thyroid dyshormonogenesis. It is caused by mutations in the …

The gene for Pendred syndrome is located between D7S501 and D7S692 in a 1.7-cM region on chromosome 7q

P Coucke, G Van Camp, O Demirhan, Y Kabakkaya… - Genomics, 1997 - Elsevier
Pendred syndrome is an autosomal recessive disorder characterized by goiter and
congenital deafness. The primary defect is not yet known, although the gene causing …

Pendred syndrome in two Galician families: insights into clinical phenotypes through cellular, genetic, and molecular studies

F Palos, MER Garcia-Rendueles… - The Journal of …, 2008 - academic.oup.com
Context: We studied two families from Galicia (northwest Spain) with Pendred syndrome
(PS) and unusual thyroid phenotypes. In family A, the proposita had a large goiter and …

Molecular analysis of hearing loss associated with enlarged vestibular aqueduct in the mainland Chinese: a unique SLC26A4 mutation spectrum

H Hu, L Wu, Y Feng, Q Pan, Z Long, J Li… - Journal of Human …, 2007 - nature.com
It has been shown that mutations in the SLC26A4 gene are involved in syndromic deafness
characterized by congenital sensorineural hearing impairment and goitre (Pendred's …

[HTML][HTML] Regulation of the expression of the Cl-/anion exchanger pendrin in mouse kidney by acid-base status

CA Wagner, KE Finberg, PA Stehberger, RP Lifton… - Kidney international, 2002 - Elsevier
Regulation of the expression of the Cl-/anion exchanger pendrin in mouse kidney by acid-
base status. Background Pendrin belongs to a superfamily of Cl-/anion exchangers and is …