Results 61 to 70 of about 2,527,901 (173)
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 +6 more
doaj +1 more source
Impaired Renal Base Excretion in Secretin Receptor Knock‐Out Mice During Prolonged Base‐Loading
Acta Physiologica, Volume 242, Issue 9, September 2026.ABSTRACT Aim Secretin was recently found to play a pivotal role in the renal adaptation to acute base excess. Here, secretin increases pendrin‐dependent HCO3− secretion from the beta‐intercalated cells in the cortical collecting ducts. Whether secretin and its receptor play a role during prolonged base‐loading remains unknown.
Tobias Jensen +10 more
wiley +1 more source
, 2023 Enlarged vestibular aqueduct is an autosomal genetic disease mainly caused by mutations in the SLC26A4 gene and includes non-syndromic and syndromic types.
Liqiu Pan (14030778) +13 more
core +1 more source
, 2015 The SLC26A4 gene has been described as the second gene involved in most cases of sensorineural non-syndromic hearing loss, since the first is the GJB2 gene.
Sartorato, Edi Lúcia +5 more
core +2 more sources
Pediatric Pulmonology, Volume 61, Issue 8, August 2026.ABSTRACT Background Decreased apical bicarbonate transport into the airway surface liquid (ASL) has been associated with decreased ASL pH, which can have adverse respiratory effects. However, the human CF epithelium can normalize ASL pH. Thus, we hypothesized that pH regulatory proteins other than the CFTR could be altered in the CF epithelium ...
Michael D. Davis +9 more
wiley +1 more source
Clinical Genetics, Volume 110, Issue 2, Page 210-226, August 2026.The Burden: Hearing loss (HL) is the most prevalent sensory disorder globally, affecting 1.5 million individuals in Brazil. The Gap: While > 150 genes are linked to HL, the genetic architecture in underrepresented populations like Brazil is poorly defined. The Problem: This lack of data limits diagnostic yield and the application of precision medicine.
Stella Diogo‐Cavassana +7 more
wiley +1 more source
Advances in Polyethyleneimine‐Derived Nanoformulations
Small Science, Volume 6, Issue 7, July 2026.This article illustrates the cytotoxic effects of polyethyleneimine (PEI) on cell membranes and mitochondria, the strategies employed to mitigate PEI‐associated toxicity through chemical modification, PEGylation, and structural optimization, and the major types of PEI‐based formulations developed for the delivery of therapeutic drugs, nucleic acids ...
Mohamed S. Attia +2 more
wiley +1 more source
SLC26A4-AS1 Agrava a Hipertrofia Cardíaca Induzida por AngII Aumentando a Expressão de SLC26A4
, 2023 Resumo Fundamento Foi relatado que o RNA 1 antisenso 1 (SLC26A4-AS1) do membro 4 da família de transportadores de soluto 26 está altamente relacionado à hipertrofia cardíaca. Objetivo Esta pesquisa visa investigar o papel e o mecanismo específicos de
Ling Zhang +6 more
core +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 +3 more
doaj +1 more source
TG Nonsense Variant in Dwarf Rottweiler Dogs
Animal Genetics, Volume 57, Issue 3, June 2026.ABSTRACT We identified a dwarfism syndrome in six Rottweiler dogs characterized by reduced height and body weight; limb deformities, shortening of the tail and abnormally thick skin in puppies; developmental delays, pain and non‐goitrous hypothyroidism. Histological examination of the thyroid gland revealed severe chronic diffuse bilateral atrophy with
Marie Abitbol +10 more
wiley +1 more source