IGF1 signaaliraja uurimine Wfs1-puudulikkusega hiirtel [PDF]
, 2017 Wolframi sündroom on haruldane autosomaalne retsessiivne haigus, mille põhjuseks on mutatsioonid WFS1 geenis. Haiguse peamisteks sümptomiteks on varajane suhkurtõbi, nägemisnärvi atroofia, kurtus ning erinevad psühhiaatrilised häired.
Kull, Erkki
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Circadian rhythms and food anticipatory behavior in Wfs1-deficient mice
Biochemical and Biophysical Research Communications, 2012 The dorsomedial hypothalamic nucleus (DMH) has been proposed as a candidate for the neural substrate of a food-entrainable oscillator. The existence of a food-entrainable oscillator in the mammalian nervous system was inferred previously from restricted ...
Luuk, Hendrik +2 more
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Wfs1 -puuduliku roti suhkurdiabeedi fenotüübi kirjeldamine [PDF]
, 2017 Wolframi sündroom (WS) on autosomaalne retsessiivne neurodegeneratiivne haigus, mida põhjustavad mutatsioonid WFS1 geenis. Sündroomi põhisümptomid on magediabeet, suhkurdiabeet, nägemisnärvi atroofia ja sensorineuraalne kurtus.
Koppel, Tuuliki
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Emotsionaalse käitumise iseloomustamine Wfs1-puudulikel rottidel [PDF]
, 2017 Wolframi sündroom on autosomaalne retsessiivne neurodegeneratiivne haigus, mida iseloomustab magediabeet, tüüp I suhkrudiabeet, optiline atroofia, kurtus ning mitmesugused psühhiaatrilised häired.
Rohtla, Laura-Liisa
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A novel heterozygous WFS1 variant of uncertain significance in a patient with early-onset diabetes: a case report [PDF]
Frontiers in EndocrinologyObjectiveTo describe the clinical presentation of a patient with early-onset diabetes and to report a novel heterozygous WFS1 variant of uncertain significance (VUS) identified in this case.
Wen Kan +4 more
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Hippocampus and Hypothalamus RNA-sequencing of WFS1-deficient Mice
Neuroscience, 2018 Wolfram syndrome is caused by mutations in the WFS1 gene. WFS1 protein dysfunction results in a range of neuroendocrine syndromes and is mostly characterized by juvenile-onset diabetes mellitus and optic atrophy.
Ivask, M. +3 more
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Scientific ReportsSecretion levels required of industrial Chinese hamster ovary (CHO) cell lines can challenge endoplasmic reticulum (ER) homeostasis, and ER stress caused by accumulation of misfolded proteins can be a bottleneck in biomanufacturing.
Dyllan Rives +2 more
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Clinical Characteristics and Audiological Profiles of Patients with Pathogenic Variants of WFS1
Journal of Clinical MedicineBackground: Mutations in Wolfram syndrome 1 (WFS1) cause Wolfram syndrome and autosomal dominant non-syndromic hearing loss DFNA6/14/38. To date, more than 300 pathogenic variants of WFS1 have been identified.
Jo Jung +5 more
semanticscholar +3 more sources
Diagnostic Yield and Clinical Impact of Comprehensive WES/WGS Testing Beyond Common Genetic Causes in Hereditary Optic Atrophy. [PDF]
Clin GenetOpticus atrophy—Genetic testing with WES/WGS in 62 patients with optic atrophy provided a genetic diagnosis in 21 patients (33.9%). 42.9% of these involved non‐OPA1 genes, including WFS1, ACO2, NR2F1, UCHL1, CACNA1F, and COQ2, where the genetic diagnosis prompted additional clinical evaluation, surveillance, or therapeutic intervention.
Johannesen KM +9 more
europepmc +2 more sources
Wolfram syndrome 1 regulates sleep in dopamine receptor neurons by modulating calcium homeostasis.
PLoS Genetics, 2023 Sleep disruptions are quite common in psychological disorders, but the underlying mechanism remains obscure. Wolfram syndrome 1 (WS1) is an autosomal recessive disease mainly characterized by diabetes insipidus/mellitus, neurodegeneration and ...
Huanfeng Hao, Li Song, Luoying Zhang
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