DOCA sensitive pendrin expression in kidney, heart, lung and thyroid tissues

L Pelzl, T Pakladok, G Pathare, H Fakhri… - Cellular physiology and …, 2012 - karger.com
Abstract Background/Aims: Pendrin (SLC26A4), a transporter accomplishing anion
exchange, is expressed in inner ear, thyroid gland, kidneys, lung, liver and heart. Loss or …

[HTML][HTML] A FRET-based approach for quantitative evaluation of forskolin-induced pendrin trafficking at the plasma membrane in bronchial NCI H292 cells

G Tamma, M Ranieri, S Dossena, A Di Mise… - Cellular physiology and …, 2013 - karger.com
Background: Human pendrin (SLC26A4, PDS) is an integral membrane protein acting as an
electroneutral anion exchanger. Loss of function mutations in pendrin protein cause …

Screening of SLC26A4 gene in autoimmune thyroid diseases

R Kallel, M Niasme‐Grare… - International journal …, 2013 - Wiley Online Library
The Pendred syndrome (PS) gene, SLC 26A4, was involved in the genetic susceptibility of
autoimmune thyroid disease (AITD) in Tunisian population. Recently, functional assays have …

[HTML][HTML] Ablation of the Cl-/HCO3-exchanger pendrin enhances hydrochlorothiazide-induced diuresis

S Alshahrani, M Soleimani - Kidney and Blood Pressure Research, 2017 - karger.com
Background/Aims: The Cl-/HCO 3-exchanger pendrin and the thiazide-sensitive Na-Cl
cotransporter NCC are expressed in the kidney distal nephron and mediate salt absorption …

The ESF Meeting on „The Proteomics, Epigenetics and Pharmacogenetics of Pendrin “

S Dossena, C Nofziger, F Lang, G Valenti… - Cellular physiology and …, 2011 - karger.com
Abstract Human pendrin (SCL26A4, PDS) is a 780 amino acid integral membrane protein
with transport function. It acts as an electroneutral, sodium-independent anion exchanger for …

The controversial role of pendrin in thyroid cell function and in the thyroid phenotype in Pendred syndrome

P Kopp, A Bizhanova, L Pesce - The Role of Pendrin in Health and …, 2017 - Springer
Thyroid hormones are essential for normal development, growth and differentiation of
numerous tissues, and metabolic regulation. Structurally, they are unique because they …

Novel compound heterozygous mutations in SLC26A4 gene in a Chinese Han family with enlarged vestibular aqueduct

M Wang, F Zhang, L Xu, Y Xiao, J Li, Z Fan… - International Journal of …, 2016 - Elsevier
Objective To identify the disease-related SLC26A4 mutants in a Chinese Han pedigree
associated with Enlarged vestibular aqueduct (EVA). Methods EVA diagnosis was based on …

Investigation of DFNB4 SLC26A4 mutation in patients with enlarged vestibular aquaduct

K Kınoğlu, KS Orhan, H Kara, O Öztürk, B Polat… - International journal of …, 2020 - Elsevier
Objectives Mutations of the SLC26A4 gene causing enlarged vestibular aqueduct (EVA)
syndrome have not yet been fully elucidated. The study aimed to investigate SLC26A4 …

Estudio genético en pacientes con hipoacusia de la Comunidad Valenciana

S Juárez Rodríguez - 2020 - riucv.ucv.es
La pérdida de audición es uno de los defectos sensoriales más comunes en humanos.
Puede deberse a factores ambientales, causas genéticas, oa una combinación de ambos …

Pathogenicity Assessment of Pendrin (SLC26A4) Variants

R Jamontas - 2019 - vb.vgtu.lt
Abstract [eng] The SLC26A4 gene encodes a protein (pendrin, SLC26A4), which is essential
for the proper development and function of the inner ear. SLC26A4 sequence alterations …