Results 51 to 60 of about 4,015 (188)
Exome sequencing identifies SLC26A4, GJB2, SCARB2 and DUOX2 mutations in 2 siblings with Pendred syndrome in a Malaysian family [PDF]
, 2017 List of PCR primers used.
Jia-Shiun Khoo +6 more
core +3 more sources
Genetic Determinants of Non-Syndromic Enlarged Vestibular Aqueduct: A Review
Audiology Research, 2021 Hearing loss is the most common sensorial deficit in humans and one of the most common birth defects. In developed countries, at least 60% of cases of hearing loss are of genetic origin and may arise from pathogenic sequence alterations in one of more ...
Sebastian Roesch +3 more
doaj +1 more source
Wwox deletion leads to reduced GABA-ergic inhibitory interneuron numbers and activation of microglia and astrocytes in mouse hippocampus [PDF]
, 2019 The association of WW domain-containing oxidoreductase WWOX gene loss of function with central nervous system (CNS) related pathologies is well documented.
Abba, Martín Carlos +11 more
core +2 more sources
The FASEB Journal, 2018 Loss‐of‐function mutation in Kcnj10 (Kir4.1) results in a number of neurological and renal pathologies in humans commonly known as EAST/SeSAME syndrome. The neurological complications, including the ataxia, associated with genetic mutations in Kcnj10 ...
Oleg Palygin +7 more
openaire +1 more source
Altered electroretinograms in patients with KCNJ10 mutations and EAST syndrome
The Journal of Physiology, 2011 Non‐technical summary Light stimulates ion flow through the retina. This generates a potential change at the cornea which is recorded as an electroretinogram (ERG). Our understanding of the role of potassium ions in generating the ERG is based on animal models.
Thompson DA +14 more
openaire +4 more sources
Molecular Genetics & Genomic Medicine, 2021 Background The enlarged vestibular aqueduct (EVA) is the commonest malformation of inner ear accompanied by sensorineural hearing loss in children. Three genes SLC26A4, FOXI1, and KCNJ10 have been associated with EVA, among them SLC26A4 being the most ...
Yongan Tian +22 more
doaj +1 more source
Ataxia in children: early recognition and clinical evaluation [PDF]
, 2017 Background: Ataxia is a sign of different disorders involving any level of the nervous system and consisting of impaired coordination of movement and balance.
Falsaperla, Raffaele +6 more
core +1 more source
Collecting system–specific deletion of Kcnj10 predisposes for thiazide- and low-potassium diet–induced hypokalemia [PDF]
Kidney International, 2020 The basolateral potassium channel KCNJ10 (Kir4.1), is expressed in the renal distal convoluted tubule and controls the activity of the thiazide-sensitive sodium chloride cotransporter. Loss-of-function mutations of KCNJ10 cause EAST/SeSAME syndrome with salt wasting and severe hypokalemia.
Penton, David +8 more
openaire +2 more sources
P2X6 Knockout Mice Exhibit Normal Electrolyte Homeostasis. [PDF]
PLoS ONE, 2016 ATP-mediated signaling is an important regulator of electrolyte transport in the kidney. The purinergic cation channel P2X6 has been previously localized to the distal convoluted tubule (DCT), a nephron segment important for Mg2+ and Na+ reabsorption ...
Jeroen H F de Baaij +5 more
doaj +1 more source
Advanced Science, Volume 13, Issue 9, 13 February 2026.The preferred derivative JX3212 demonstrates strong inhibitory activity against Kir4.1 with favorable druggability and shows significant antidepressant efficacy in vivo. Abstract Major depressive disorder is a serious psychiatric disorder for which novel and fast‐acting antidepressants are required.
Sisi Wang +15 more
wiley +1 more source