Results 61 to 70 of about 8,863 (195)

Compound Heterozygosity for Two Novel SLC26A4 Mutations in a Large Iranian Pedigree with Pendred Syndrome [PDF]

, 2013
Objectives. The aim of this study was to detect the genetic cause of deafness in a large Iranian family. Due to the importance of SLC26A4 in causing hearing lots, information about the gene mutations can be beneficial in molecular detection and ...
Abdian, Narges., Bagheri, Nader., Farrokhi, Effat., Hashemzadeh-Chaleshtori, Morteza., Noormohammadi, Zahra., Shahbazi, Shirin., Tabatabaiefar, Mohammad Amin., Yazdanpanahi, Nasrin.   +7 more
core   +1 more source

Effects of cAMP and CFTR modulation on apical fluid pH in human airway Calu‐3 cells

Physiological Reports, Volume 14, Issue 3, February 2026.
Abstract The airway epithelium serves as the first line of defense against inhaled insults present in the external environment by acting as a physical barrier and through host defense mechanisms. Proper maintenance of these host defense mechanisms relies on the regulation of airway surface liquid (ASL) composition and properties, a process that is ...
Jenny P. Nguyen, Nadia Milad, Jeremy A. Hirota   +2 more
wiley   +1 more source

Endolymphatic Na⁺ and K⁺ concentrations during cochlear growth and enlargement in mice lacking Slc26a4/pendrin.

PLoS ONE, 2013
Slc26a4 (Δ/Δ) mice are deaf, develop an enlarged membranous labyrinth, and thereby largely resemble the human phenotype where mutations of SLC26A4 cause an enlarged vestibular aqueduct and sensorineural hearing loss.
Xiangming Li, Fei Zhou, Daniel C Marcus, Philine Wangemann   +3 more
doaj   +1 more source

Targeting EZH2 reverses thyroid cell dedifferentiation and enhances iodide uptake in anaplastic thyroid cancer

FEBS Letters, Volume 600, Issue 2, Page 215-225, January 2026.
Anaplastic thyroid cancer (ATC) lacks iodide uptake ability due to MAPK activation increasing the expression of the histone methyltransferase EZH2, which represses thyroid differentiation genes (TDGs) such as the sodium iodide symporter (NIS). Dual inhibition of MAPK (U0126) and EZH2 (EPZ6438/Tazemetostat) reverses this mechanism, thus restoring TDG ...
Diego Claro de Mello, Marcella Maringolo Cristovão, Guilherme Henrique, Vinicius Gonçalves Rodrigues, Caroline Serrano‐Nascimento, Edna Teruko Kimura, Cesar Seigi Fuziwara   +6 more
wiley   +1 more source

Two novel SLC26A4 mutations in Iranian families with autosomal recessive hearing loss [PDF]

, 2012
Objective: Due to the fact that SLC26A4 has been suggested as the second cause of hearing loss (HL) in Iran as well as many other countries, obtaining more comprehensive information about SLC26A4 mutations can facilitate more efficient genetic services ...
Farrokhi, Effat., Hashemzadeh-Chaleshtori, Morteza., Hosseinipour, Azam., Najmabadi, Hossein., Noormohammadi, Zahra., Shahbazi, Shirin., Tabatabaiefar, Mohammad Amin., Yazdanpanahi, Nasrin.   +7 more
core   +1 more source

Novel pathogenic variants underlie SLC26A4 -related hearing loss in a multiethnic cohort [PDF]

International Journal of Pediatric Otorhinolaryngology, 2017
The genetics of sensorineural hearing loss is characterized by a high degree of heterogeneity. Despite this heterogeneity, DNA variants found within SLC26A4 have been reported to be the second most common contributor after those of GJB2 in many populations.Whole exome sequencing and/or Sanger sequencing of SLC26A4 in 117 individuals with sensorineural ...
Filiz Basak Cengiz, Rasim Yilmazer, Levent Olgun, Levent Sennaroglu, Tayfun Kirazli, Hudaver Alper, Yuksel Olgun, Armagan Incesulu, Tahir Atik, Fabiola Huesca-Hernandez, Juan Domínguez-Aburto, Garly González-Rosado, Edgar Hernandez-Zamora, Maria de la Luz Arenas-Sordo, Ibis Menendez, Kadir Serkan Orhan, Hakan Avci, Nejat Mahdieh, Mortaza Bonyadi, Joseph Foster, Duygu Duman, Ferda Ozkinay, Susan H. Blanton, Guney Bademci, Mustafa Tekin   +24 more
openaire   +5 more sources

The role and spectrum of SLC26A4 mutations in Iranian patients with autosomal recessive hereditary deafness [PDF]

, 2015
Objective: To determine the prevalence and types of SLC26A4 mutations and the relevant phenotypes in a series of Iranian deaf patients. Design: A descriptive laboratory study.
Azadegan-Dehkordi, Fatemeh., Bagheri, Nader., Farrokhi, Effat., Hashemzadeh-Chaleshtori, Morteza., Tabatabaiefar, Mohammad Amin., Yazdanpanahi, Nasrin.   +5 more
core  

Functional characterization of human thyroid tissue with immunohistochemistry [PDF]

, 2007
Immunohistochemistry provides insights in the expression of functional proteins and of their localization in normal thyroid tissue and in thyroid diseases.
Bernard, Caillou, Faggiano, Antongiulio, Filetti, Sebastiano, Jean Michel Bidart,, Ludovic, Lacroix, Martin, Schlumberger, Monique, Talbot   +6 more
core   +1 more source

A Novel Intronic Variant Causes Aberrant Splicing of PCDH15 in a Family With Usher Syndrome Type 1F

Molecular Genetics &Genomic Medicine, Volume 14, Issue 1, January 2026.
Minigene splicing assays elucidated the pathogenicity of a novel intronic c.3717+5G>A mutation in the PCDH15 gene, which was identified in a family affected by Usher syndrome type 1F. The results demonstrated that the c.3717+5G>A mutation can lead to exon 27 skipping and retention of 51 bp at the 5′ end of intron 27, resulting in truncated or abnormal ...
Qifan Ma, Chenyang Xu, Xueqin Xu, Yanbao Xiang   +3 more
wiley   +1 more source

Sgk1 Sensitive Pendrin Expression in Murine Platelets

Cellular Physiology and Biochemistry, 2013
Background: The anion exchanger pendrin (SLC26A4) is required for proper development of the inner ear, and contributes to iodide organification in thyroid glands as well as anion transport in various epithelia, such as airways and renal tubules.
Lisann Pelzl, Hajar Fakhri, Anja T. Umbach, Meinrad Gawaz, Markus Paulmichl, Florian Lang   +5 more
doaj   +1 more source