Background Gene variants are responsible for more than half of hearing loss, particularly in
nonsyndromic hearing loss (NSHL). The most common pathogenic variant in SLC26A4 …

The SLC26A4 gene, which encodes the anion exchanger pendrin, is involved in
determining syndromic (Pendred syndrome) and non-syndromic (DFNB4) autosomal …

Aim To determine the spectrum and frequency of disease-causing variants in patients with
non-syndromic hearing loss (NSHL) and to investigate the diagnostic yield of the applied …

Prestin, s voltage-driven motor activity confers sound-elicited somatic electromotility in
auditory outer hair cells (OHCs) and is essential for the exquisite sensitivity and frequency …

Hypokalemic periodic paralysis (HypoPP) is a rare genetic disease associated with
mutations in CACNA1S or SCN4A, encoding Cav1. 1 or Nav1. 4, respectively. Most HypoPP …

Abstract Pendrin (SLC26A4) is an anion exchanger that mediates bicarbonate (HCO3−)
exchange for chloride (Cl−) and is crucial for maintaining pH and salt homeostasis in the …

В работе впервые проведена in silico оценка возможного патогенетического влияния
варианта c. 441G> A p.(Met147Ile) гена SLC26A4, имеющего в настоящее время статус …

Outer hair cell electromotility, driven by prestin, is essential for mammalian cochlear
amplification. Here, we report the cryo-EM structures of thermostabilized human prestin …

In this work, for the first time, an in silico evaluation of the possible pathogenic effect of the c.
441G> A p.(Met147Ile) variant of uncertain significance of the SLC26A4 gene on the …

Pendred syndrome (PDS) is the most common form of syndromic Hearing Loss (HL),
characterized by sensorineural HL, inner ear malformations, and goiter, with or without …