Expression pattern of the mouse ortholog of the Pendred's syndrome gene (Pds) suggests a key role for pendrin in the inner ear

LA Everett, H Morsli, DK Wu… - Proceedings of the …, 1999 - National Acad Sciences
Pendred's syndrome is an autosomal-recessive disorder characterized by deafness and
goiter. After our recent identification of the human gene mutated in Pendred's syndrome …

Localization and functional studies of pendrin in the mouse inner ear provide insight about the etiology of deafness in pendred syndrome

IE Royaux, IA Belyantseva, T Wu, B Kachar… - Journal of the …, 2003 - Springer
Immunolocalization studies of mouse cochlea and vestibular end-organ were performed to
study the expression pattern of pendrin, the protein encoded by the Pendred syndrome gene …

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

L Fugazzola, N Cerutti, D Mannavola, A Crinò… - Pediatric …, 2002 - nature.com
The disease gene for Pendred syndrome has been recently characterized and named PDS.
It codes for a transmembrane protein called pendrin, which is highly expressed at the apical …

Pendrin, encoded by the Pendred syndrome gene, resides in the apical region of renal intercalated cells and mediates bicarbonate secretion

IE Royaux, SM Wall, LP Karniski… - Proceedings of the …, 2001 - National Acad Sciences
Pendrin is an anion transporter encoded by the PDS/Pds gene. In humans, mutations in
PDS cause the genetic disorder Pendred syndrome, which is associated with deafness and …

Targeted disruption of mouse Pds provides insight about the inner-ear defects encountered in Pendred syndrome

LA Everett, IA Belyantseva… - Human molecular …, 2001 - academic.oup.com
Following the positional cloning of PDS, the gene mutated in the deafness/goitre disorder
Pendred syndrome (PS), numerous studies have focused on defining the role of PDS in …

Functional characterization of wild-type and mutated pendrin (SLC26A4), the anion transporter involved in Pendred syndrome.

S Dossena, S Rodighiero, V Vezzoli… - Journal of molecular …, 2009 - europepmc.org
Pendred syndrome (PS) is the most frequent form of genetically related syndromic hearing
loss, and is associated with mutations of pendrin, encoded by the SLC26A4 gene. This …

Human pendrin expressed in Xenopus laevis oocytes mediates chloride/formate exchange

DA Scott, LP Karniski - American Journal of Physiology-Cell …, 2000 - journals.physiology.org
Pendred syndrome, characterized by congenital sensorineural hearing loss and goiter, is
one of the most common forms of syndromic deafness. The gene causing Pendred …

Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4 …

DA Scott, R Wang, TM Kreman… - Human Molecular …, 2000 - academic.oup.com
The PDS gene encodes a transmembrane protein, known as pendrin, which functions as a
transporter of iodide and chloride. Mutations in this gene are responsible for Pendred …

Pendred syndrome: Phenotypic variability in two families carrying the same PDS missense mutation

S Masmoudi, I Charfedine, M Hmani… - American journal of …, 2000 - Wiley Online Library
Pendred syndrome comprises congenital sensorineural hearing loss, thyroid goiter, and
positive perchlorate discharge test. Recently, this autosomal recessive disorder was shown …

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 …