Pendrin
Mostrando 1-12 de 12 artigos, teses e dissertações.
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1. Increased expression of pendrin in eosinophilic chronic rhinosinusitis with nasal polyps
Resumo Introdução: A rinossinusite crônica com pólipos nasais é uma doença heterogênea e algoritmos diagnósticos apropriados em casos individuais são necessários para um tratamento médico eficaz. Objetivo: O objetivo deste estudo foi esclarecer a relação entre a expressão da pendrina de pólipos nasais e propriedades clínicas e patológicas
Braz. j. otorhinolaryngol.. Publicado em: 13/12/2019
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2. Mutation screening of the SLC26A4 gene in a cohort of 192 Chinese patients with congenital hypothyroidism
ABSTRACT Objective Pendred syndrome (PS) is an autosomal recessive disorder characterised by sensorineural hearing loss and thyroid dyshormonogenesis. It is caused by biallelic mutations in the SLC26A4 gene encoding for pendrin. Hypothyroidism in PS can be present from birth and therefore diagnosed by neonatal screening. The aim of this study was to examin
Arch. Endocrinol. Metab.. Publicado em: 16/02/2016
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3. Efeito da administração aguda de iodo sobre a expressão do gene da pendrina: Estudo in vivo e in vitro / Effect of acute administration od iodide in pendrin gene expression: study in vivo and in vitro
Pendrina é um transportador de ânions inserido na membrana apical de células foliculares. Estudos subseqüentes demonstraram que a proteína pode mediar o efluxo apical do iodeto nos tirócitos. Sendo o iodo fundamental para a síntese de hormônios tiroidianos foi objetivo deste estudo avaliar o efeito da administração aguda de iodo na expressão do mR
Publicado em: 2010
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4. Screening and functional analysis of thyroglobulin gene mutations de mutações related to congenital goiter and hypothyroidism / Rastreamento e estudo funcional de mutações no gene da tireoglobulina associadas a bócio congênito e hipotireoidismo
Introduction: Congenital hypothyroidism is one of the most common hereditary endocrine disorders, which affects 1:4000 newborns. Congenital hypothyroidism is caused by thyroid gland dysgenesis (80%) or inborn errors of thyroid hormone synthesis (20%). Genetic defects in thyroglobulin, pendrin, thyroperoxidase, dual oxidase 2, simporter sodium/iodine have bee
Publicado em: 2008
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5. Role of pendrin in iodide balance: going with the flow
Pendrin is expressed in the apical regions of type B and non-A, non-B intercalated cells, where it mediates Cl− absorption and HCO3− secretion through apical Cl−/HCO3− exchange. Since pendrin is a robust I− transporter, we asked whether pendrin is upregulated with dietary I− restriction and whether it modulates I− balance. Thus I− balance was
American Physiological Society.
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6. Pendrin, encoded by the Pendred syndrome gene, resides in the apical region of renal intercalated cells and mediates bicarbonate secretion
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 goiter. Previous studies have shown that this gene has a relatively restricted pattern of expression, with PDS/Pds mRNA detected only in the thyroid, inner ear, and kidney. The prese
The National Academy of Sciences.
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7. Expression pattern of the mouse ortholog of the Pendred’s syndrome gene (Pds) suggests a key role for pendrin in the inner ear
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 (PDS), we sought to investigate in greater detail the expression of the gene and the function of its encoded protein (pendrin). Toward that end, we isolated the corresponding mouse ort
The National Academy of Sciences.
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8. Identification of a chloride-formate exchanger expressed on the brush border membrane of renal proximal tubule cells
A key function of the proximal tubule is retrieval of most of the vast quantities of NaCl and water filtered by the kidney. Physiological studies using brush border vesicles and perfused tubules have indicated that a major fraction of Cl− reabsorption across the apical membrane of proximal tubule cells occurs via Cl−-formate exchange. The molecular ident
The National Academy of Sciences.
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9. Developmental delays consistent with cochlear hypothyroidism contribute to failure to develop hearing in mice lacking Slc26a4/pendrin expression
Mutations of SLC26A4 cause an enlarged vestibular aqueduct, nonsyndromic deafness, and deafness as part of Pendred syndrome. SLC26A4 encodes pendrin, an anion exchanger located in the cochlea, thyroid, and kidney. The goal of the present study was to determine whether developmental delays, possibly mediated by systemic or local hypothyroidism, contribute to
American Physiological Society.
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10. Reciprocal electromechanical properties of rat prestin: The motor molecule from rat outer hair cells
Cochlear outer hair cells (OHCs) are responsible for the exquisite sensitivity, dynamic range, and frequency-resolving capacity of the mammalian hearing organ. These unique cells respond to an electrical stimulus with a cycle-by-cycle change in cell length that is mediated by molecular motors in the cells' basolateral membrane. Recent work identified pr
The National Academy of Sciences.
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11. A molecular mechanism for aberrantCFTR-dependent HCO3– transport in cystic fibrosis
Aberrant HCO3– transport is a hallmark of cystic fibrosis (CF) and is associated with aberrant Cl–-dependent HCO3– transport by the cystic fibrosis transmembrane conductance regulator (CFTR). We show here that HCO3– current by CFTR cannot account for CFTR-activated HCO3– transport and that CFTR does not activate AE1–AE4. In contrast, CFTR markedl
Oxford University Press.
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12. WNK4 regulates apical and basolateral Cl– flux in extrarenal epithelia
Mutations in the serine-threonine kinase WNK4 [with no lysine (K) 4] cause pseudohypoaldosteronism type II, a Mendelian disease featuring hypertension with hyperkalemia. In the kidney, WNK4 regulates the balance between NaCl reabsorption and K+ secretion via variable inhibition of the thiazide-sensistive NaCl cotransporter and the K+ channel ROMK. We now dem
National Academy of Sciences.