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 …
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 …
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 …
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
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 …
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 …
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 …
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 …
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 …
(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 …
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
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 …
base status. Background Pendrin belongs to a superfamily of Cl-/anion exchangers and is …