Results 61 to 70 of about 7,226 (202)

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

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

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  

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

Identification of SLC26A4 c.919-2A>G compound heterozygosity in hearing-impaired patients to improve genetic counseling

Journal of Translational Medicine, 2012
Background Mutations in the SLC26A4 gene, which encodes the anion transporter, pendrin, are a major cause of autosomal recessive non-syndromic hearing loss (NSHL) in some Asian populations.
Li Qi, Zhu Qing-wen, Yuan Yong-yi, Huang Sha-sha, Han Dong-yi, Huang De-liang, Dai Pu   +6 more
doaj   +1 more source

Genetic Screening of and in Korean Cochlear Implantees: Experience of Soree Ear Clinic [PDF]

Clinical and Experimental Otorhinolaryngology, 2012
ObjectivesGenetic hearing loss is highly heterogeneous and more than 100 genes are predicted to cause this disorder in humans. In spite of this large genetic heterogeneity, mutations in SLC26A4 and GJB2 genes are primarily responsible for the major ...
Joong-Wook Shin, Seung-Chul Lee, Ho-Ki Lee, Hong-Joon Park   +3 more
doaj   +1 more source

Síndrome de Pendred causada por mutação em homozigoze no gene SLC26A4 em uma família brasileira consangüínea [PDF]

, 2008
Pendred Syndrome (PS) is an autossomal recessive disorder characterized by sensorineural deafness, goiter and iodide organification defect. The hearing loss is associated with inner ear abnormalities, ranging from an isolated enlarged vestibular aqueduct
Bahmad Júnior, Fayez, Barra, Gustavo Barcelos, Batista, Ana R. T., Cherulli, Bruno Luis Barbosa, Costa, Patrícia Godoy Garcia, Figueiredo, Larissa Pereira Gomes, Freitas, Ana Carolina Rezende de, Garcia, Érica Correia, Motta, Luiz Augusto Casulari Roxo da, Nascimento, Paula P., Neves, Francisco de Assis Rocha, Porto, Adriana Lofrano Alves, Vaz, Rodrigo Ferreira   +12 more
core   +1 more source

Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVA [PDF]

Proceedings of the National Academy of Sciences, 2008
Pendred syndrome is an autosomal recessive disorder characterized by sensorineural hearing loss, with malformations of the inner ear, ranging from enlarged vestibular aqueduct (EVA) to Mondini malformation, and deficient iodide organification in the thyroid gland.
A. Pera, S. Dossena, S. Rodighiero, M. Gandía, G. Bottà, G. Meyer, F. Moreno, C. Nofziger, C. Hernández Chico, M. Paulmichl   +9 more
openaire   +3 more sources

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

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