Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in pendred syndrome/enlarged vestibular aqueducts [PDF]
, 2013 Pendred syndrome is a common autosomal recessive disorder causing deafness. Features include sensorineural hearing impairment, goitre, enlarged vestibular aqueducts (EVA) and occasionally Mondini dysplasia.
Bitner-Glindzicz, M +4 more
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Oligodendrocyte-encoded Kir4.1 function is required for axonal integrity
eLife, 2018 Glial support is critical for normal axon function and can become dysregulated in white matter (WM) disease. In humans, loss-of-function mutations of KCNJ10, which encodes the inward-rectifying potassium channel KIR4.1, causes seizures and progressive ...
Lucas Schirmer +20 more
doaj +1 more source
A New Genetic Diagnostic for Enlarged Vestibular Aqueduct Based on Next-Generation Sequencing. [PDF]
PLoS ONE, 2016 Enlarged vestibular aqueduct (EVA) is one of the most common congenital inner ear malformations and accounts for 1-12% of sensorineural deafness in children and adolescents. Multiple genetic defects contribute to EVA; therefore, early molecular diagnosis
Yalan Liu +10 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
Integrated systems analysis reveals a molecular network underlying autism spectrum disorders. [PDF]
, 2014 Autism is a complex disease whose etiology remains elusive. We integrated previously and newly generated data and developed a systems framework involving the interactome, gene expression and genome sequencing to identify a protein interaction module with
Euskirchen, Ghia +8 more
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PLoS ONE, 2014 BackgroundNonsyndromic enlargement of vestibular aqueduct (NSEVA) is an autosomal recessive hearing loss disorder that is associated with mutations in SLC26A4. However, not all patients with NSEVA carry biallelic mutations in SLC26A4.
Jiandong Zhao +8 more
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
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Inwardly rectifying potassium channel 5.1: Structure, function, and possible roles in diseases
Genes and Diseases, 2021 Inwardly rectifying potassium (Kir) channels make it easier for K+ to enter into a cell and subsequently regulate cellular biological functions. Kir5.1 (encoded by KCNJ16) alone can form a homotetramer and can form heterotetramers with Kir4.1 (encoded by
Junhui Zhang +10 more
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Gain-of-function defects of astrocytic Kir4.1 channels in children with autism spectrum disorders and epilepsy [PDF]
, 2016 Dysfunction of the inwardly-rectifying potassium channels Kir4.1 (KCNJ10) represents a pathogenic mechanism contributing to Autism-Epilepsy comorbidity.
Ambrosini, Elena +17 more
core +1 more source
Role of collecting duct principal cell NOS1β in sodium and potassium homeostasis
Physiological Reports, 2021 The nitric oxide (NO)‐generating enzyme, NO synthase‐1β (NOS1β), is essential for sodium (Na+) homeostasis and blood pressure control. We previously showed that collecting duct principal cell NOS1β is critical for inhibition of the epithelial sodium ...
Kelly A. Hyndman +6 more
doaj +1 more source