Results 121 to 130 of about 5,313 (208)
BMC Medical Genetics, 2017 Background Low-frequency nonsyndromic hearing loss (LF-NSHL) is a rare, inherited disorder. Here, we report a family with LF-NSHL in whom a missense mutation was found in the Wolfram syndrome 1 (WFS1) gene.
Hye Ji Choi +7 more
doaj +1 more source
WFS1 mutations in each patient with WFS.
, 2014 *Novel mutations are indicated in boldface.§Individual with detectable WFS1 mutation in single chromosome.WFS1 mutations in each patient with WFS.
Shigetaka Sugihara (628357) +15 more
core +1 more source
International Journal of AudiologyObjective This study aimed to evaluate long-term cochlear implant (CI) outcomes in individuals with mono-allelic pathogenic variants in WFS1, which is associated with both Wolfram-like syndrome and DFNA6/14/38. Design Retrospective case series.
M. Fehrmann +5 more
semanticscholar +1 more source
WFS1 deficiency induces mild ER stress in primary cortical neurons.
, 2016 (A) Neurons were transfected with plasmids expressing scrambled shRNA or Wfs1 shRNA, firefly luciferase constructs containing ATF6 or ATF4 binding sites or a XBP-1 splicing reporter, and Renilla luciferase. Firefly luciferase signal normalized to Renilla
Mailis Liiv (3151065) +12 more
core +1 more source
Acta EndocrinologicaIntroduction Wolfram Syndrome (WS) is a rare autosomal recessively inherited disorder characterized by juvenile-onset diabetes mellitus (DM), diabetes insipidus, optic atrophy (OA), hearing loss and neurodegeneration.
H. Manyas +5 more
semanticscholar +1 more source
Wfs1 valgu levik kesknärvisüsteemis ja selle mõju käitumisele [PDF]
, 2009 Identification of environmental information critical for survival and procreation is crucial for forming appropriate behavioral responses. An important psychological aspect of this process is emotion perception.
Luuk, Hendrik
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A schematic presentation of mutations affecting the WFS1 protein.
, 2014 The relative positions of WFS1 mutations within the putative WFS1 protein topology are indicated. Mutations are color-coded according to their mutation categories: mutations with predicted complete loss of function (red), mutations with predicted partial
Shigetaka Sugihara (628357) +15 more
core +1 more source
Arenguline lähenemine emotsionaalse käitumisega seotud geenide Wfs1 ja Lsampʼi funktsiooni uurimisel [PDF]
, 2018 Väitekirja elektrooniline versioon ei sisalda publikatsioonePsühhiaatriliste häirete kujunemises mängib olulist rolli aju areng. Geenid, mis osalevad emotsioonidega seotud ajupiirkondade arengus ja funktsioneerimises, on olulised psühhiaatriliste häirete
Tekko, Triin
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WFS1 deficiency decreases mitochondrial membrane potential and cytosolic ATP level.
, 2016 (A) Primary cortical neurons were transfected with control or Wfs1 siRNA using the N-TER nanoparticle siRNA transfection system and stained with JC-10, which emits light from 525 nm to 590 nm, depending on mitochondrial membrane potential.
Mailis Liiv (3151065) +12 more
core +1 more source
Wfs1 geeni puudulikkusega hiire monoamiinergilise ja GABA-ergilise süsteemi farmakoloogiline ja käitumuslik iseloomustus [PDF]
, 2015 Väitekirja elektrooniline versioon ei sisalda publikatsioone.Meeleolu- ja ärevushäired on laialt levinud väga rasked psühhiaatrilised haigused. Mõnedes inimese geenides esinevate mutatsioonide puhul ilmneb neid häireid oluliselt sagedamini.
Visnapuu, Tanel
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