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• W2004289254 abstract "Pendred syndrome is an autosomal recessive disorder characterized by sensorineural hearing impairment, presence of goiter, and a partial defect in iodide organification, which may be associated with insufficient thyroid hormone synthesis. Goiter development and development of hypothyroidism are variable and depend on nutritional iodide intake. Pendred syndrome is caused by biallelic mutations in the SLC26A4 gene, which encodes pendrin, a transporter of chloride, bicarbonate and iodide. This review discusses the controversies surrounding the potential role of pendrin in mediating apical iodide efflux into the lumen of thyroid follicles, and discusses its functional role in the kidney and the inner ear. Pendred syndrome is an autosomal recessive disorder characterized by sensorineural hearing impairment, presence of goiter, and a partial defect in iodide organification, which may be associated with insufficient thyroid hormone synthesis. Goiter development and development of hypothyroidism are variable and depend on nutritional iodide intake. Pendred syndrome is caused by biallelic mutations in the SLC26A4 gene, which encodes pendrin, a transporter of chloride, bicarbonate and iodide. This review discusses the controversies surrounding the potential role of pendrin in mediating apical iodide efflux into the lumen of thyroid follicles, and discusses its functional role in the kidney and the inner ear. Different mutations in the same gene or genetic locus resulting in an identical or similar phenotype. Cystic fibrosis conductance regulator. Chinese hamster ovary cells. Green monkey kidney cells. Iodotyrosine dehalogenase 1. Deoxycorticosterone pivalate (an aldosterone antagonist). Dual oxidase 2. A vestibular aqueduct is considered enlarged if it is greater than 1.5 mm. If it is enlarged, the endolymphatic duct and sac are usually also enlarged. The finding of an EVA is unspecific, but is present in all patients with Pendred syndrome. Normal thyroid function. Fisher rat thyroid cells. Enlarged thyroid; does not specify etiology. Hydrogen peroxide. The cortical collecting duct contains principal cells and intercalated cells. The intercalated cells are involved in acid-base regulation through absorption or secretion of bicarbonate depending on the acid-base status. Type A intercalated cells absorb bicarbonate, whereas type B cells secrete bicarbonate. Other types of intercalated cells, referred to as non-A/non-B cells, are present in the cortical collecting duct. Whether non-A/non-B intercalated cells interconvert between type A and type B cells is controversial. Michaelis constant. Madin-Darby canine kidney cells. Monoiodotyrosine, diiodotyrosine. Malformation of the cochlea. The cochlear turns are replaced by a rudimentary cochlea or a single cavity. Messenger RNA. Sodium iodide symporter/solute carrier 5A5. Online Mendelian Inheritance in Man. Online compendium of Mendelian disorders and human genes causing genetic disorders (http://www.ncbi.nlm.nih.gov/omim/). An otoconium, also called an otolith, is a structure in the saccule or utricle of the inner ear. The mammalian inner ear is composed of the cochlea, the auditory component, and the vestibular system responsible for the control of balance. The latter consists of the saccule the utricle, and the three semicircular canals. Each sensory epithelium is covered by an acellular gelatinous membrane: the tectorial membrane in the cochlea, the cupulae in the ampullae of the semicircular canals, and the otoconial membranes in the saccule and the utricle. Rat thyroid cell strain. Nuclear medicine test that determines whether the organification of iodide in the thyroid is normal. Partial iodide organification defect, total iodide organification defect. Protein kinase A. Reverse-transcription polymerase chain reaction. Solute carrier 26 family. Solute carrier 26A4/Pendrin. Sulfate transporter and antisigma factor antagonist domain. Thyroxine, triiodothyronine. Thyroglobulin. Thyroid peroxidase. Thyroid stimulating hormone (receptor)." @default.
• W2004289254 created "2016-06-24" @default.
• W2004289254 creator A5044348886 @default.
• W2004289254 creator A5058869011 @default.
• W2004289254 creator A5073326394 @default.
• W2004289254 date "2008-09-01" @default.
• W2004289254 modified "2023-09-26" @default.
• W2004289254 title "Pendred syndrome and iodide transport in the thyroid" @default.
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• W2004289254 doi "https://doi.org/10.1016/j.tem.2008.07.001" @default.
• W2004289254 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/18692402" @default.
• W2004289254 hasPublicationYear "2008" @default.
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