Results 1 to 10 of about 3,059 (132)
Novel phenotype associated with a mutation in the KCNA1(Kv1.1) gene [PDF]
Frontiers in Physiology, 2015 Episodic ataxia type 1 (EA1) is an autosomal dominant K+ channelopathy which manifests with short attacks of cerebellar ataxia and dysarthria, and may also show interictal myokymia.
Maria Cristina D'Adamo +23 more
doaj +5 more sources
EAST/SeSAME Syndrome and Beyond: The Spectrum of Kir4.1- and Kir5.1-Associated Channelopathies [PDF]
Frontiers in Physiology, 2022 In 2009, two groups independently linked human mutations in the inwardly rectifying K+ channel Kir4.1 (gene name KCNJ10) to a syndrome affecting the central nervous system (CNS), hearing, and renal tubular salt reabsorption.
Jacky Lo +4 more
doaj +3 more sources
Transgenic Tg(Kcnj10-ZsGreen) fluorescent reporter mice allow visualization of intermediate cells in the stria vascularis [PDF]
Scientific ReportsThe stria vascularis (SV) is a stratified epithelium in the lateral wall of the mammalian cochlea, responsible for both endolymphatic ion homeostasis and generation of the endocochlear potential (EP) critical for normal hearing.
Dillon Strepay +12 more
doaj +2 more sources
Role of Kir4.1 Channel in Auditory Function: Impact on Endocochlear Potential and Hearing Loss [PDF]
Applied SciencesHearing loss can result from impairments in structures that support endocochlear potential, as they play a crucial role in the transduction and transmission of auditory waves. This aspect has been the subject of several studies to date.
Silvia Fracaro +7 more
doaj +3 more sources
Cell Reports, 2023 Summary: The regulation of translation in astrocytes, the main glial cells in the brain, remains poorly characterized. We developed a high-throughput proteomics screen for polysome-associated proteins in astrocytes and focused on ribosomal protein ...
Marc Oudart +13 more
doaj +1 more source
Slc26a7 chloride channel activity and localization in mouse Reissner’s membrane epithelium [PDF]
, 2014 Several members of the SLC26 gene family have highly-restricted expression patterns in the auditory and vestibular periphery and mutations in mice of at least two of these (SLC26A4 and SLC26A5) lead to deficits in hearing and/or balance.
Harbidge, Donald G. +7 more
core +15 more sources
The Turkish Journal of Pediatrics, 2020 Background and Objectives. There are controversial results in the literature regarding urinary electrolytes, especially potassium, in enuretic children.
Ayşe Balat +7 more
doaj +1 more source
Ion channel-related hereditary hearing loss: a narrative review
Journal of Bio-X Research, 2021 . Sensorineural hearing loss is the most common sensory deficit in humans, with an estimated prevalence of 1 in 500 newborns. Approximately half of childhood hearing loss is attributed to genetic factors and can be classified as syndromic or non ...
Honglan Zheng, Wanning Cui, Zhiqiang Yan
doaj +1 more source
Frontiers in Physiology, 2023 The inward-rectifying potassium channel subunit Kir5.1, encoded by Kcnj16, can form functional heteromeric channels (Kir4.1/5.1 and Kir4.2/5.1) with Kir4.1 (encoded by Kcnj10) or Kir4.2 (encoded by Kcnj15).
Chaojie Zhang +7 more
doaj +1 more source
KCNK5 channels mostly expressed in cochlear outer sulcus cells are indispensable for hearing [PDF]
, 2015 International audienceIn the cochlea, K þ is essential for mechano-electrical transduction. Here, we explore cochlear structure and function in mice lacking K þ channels of the two-pore domain family.
Barhanin, Jacques +5 more
core +8 more sources