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Protective role of wfs1 against stress and age-associated neurodegeneration.
Study successfully identified eight previously reported mutations and five novel variants, and estimated the incidence of WFS1 variants to be 2.5% in Japanese families with presumably autosomal dominant or mitochondrial HL. Also, results found that some variants can occur as de novo change at the mutational hot spots in WFS1, resulting in an audiovestibular phenotype.
We show for the first time the role of WFS1 in CAO and document a statistically significant interaction between increasing cumulative cisplatin dose and rs62283056 genotype. Our clinical translational results demonstrate that pretherapy patient genotyping to minimize ototoxicity could be useful when deciding between cisplatin-based chemotherapy regimens of comparable efficacy with different cumulative doses
findings strongly suggest that the c.2389G>A mutation in WFS1 is associated with all-frequency hearing loss, rather than low- or high-frequency loss
a novel mutation c.2614-2625delCATGGCGCCGTG in the WFS1-gene was identified in a family with autosomal-dominant hereditary hearing impairment
WFS1 is a highly polymorphic gene and determining the mode of inheritance or the pathological significance of a specific WFS1 variant is not always straightforward, especially in singleton cases with no access to other family members. Our study has revealed an interesting association between dominant missense WFS1 mutations and distinct OPL (显示 ZIC1 抗体) lamination on spectral domain OCT (显示 Plxna2 抗体), which was not observed in patients with recessi
This is the second report to describe a pathological mutation in WFS1 among Korean patients and the second to describe the mutation in a different ethnic background. Given that the mutation was found in independent families, p.S807R possibly appears to be a "hot spot" in WFS1, which is associated with LF-NSHL.
data extend the mutation spectrum of the WFS1 gene in Chinese individuals and may contribute to establishing a better genotype-phenotype correlation for LFSNHL.
WFS1 and GJB2 (显示 GJB2 抗体) mutations were identified in eight of 74 cases of Low-Frequency Sensorineural Hearing Loss. Four cases had heterozygous WFS1 mutations; one had a heterozygous WFS1 mutation and a heterozygous GJB2 (显示 GJB2 抗体) mutation; and three cases had biallelic GJB2 (显示 GJB2 抗体) mutations. Three cases with WFS1 mutations were sporadic; two of them were confirmed to be caused by a de novo mutation based on the genetic analysis of their parents.
Specific dominant WFS1 mutations are a cause of a novel syndrome including neonatal/infancy-onset diabetes, congenital cataracts, and sensorineural deafness.
the functional link between Wfs1 and D1-like dopamine receptors is evolutionarily conserved and plays an important role in adjusting behavioral reactions to environmental stimuli.
Three muscle-specific (显示 EIF3K 抗体) nuclear membrane proteins, NET39 (显示 PPAPDC3 抗体), Tmem38A (显示 TMEM38A 抗体), and WFS1, direct specific myogenic genes to the nuclear periphery to facilitate their repression during myogenesis.
WFS1-knockout mice develop a metabolic phenotype characterized with several physiological dysfunctions.
RNA-sequencing of pancreatic islets from WFS1-deficient mice showed that Trpm5 (显示 TRPM5 抗体) is downregulated and the pathways related to tissue morphology, and endocrine system development/function/molecular transport network are influenced.
Study demonstrates that Wfs1 deficiency in mice induces alterations in specific behavioural effects of ethanol like the increased anxiolytic-like and hypnotic action, but the decreased sedation
Na-pump alpha1 -subunit mRNA was significantly decreased in the dorsal striatum and midbrain of Wfs1-deficient homozygous animals compared with wild-type littermates.
Results reveal a role for WFS1 in the negative regulation of SERCA (显示 ATP2A3 抗体) and provide further insights into the function of WFS1 in calcium homeostasis.
Energy metabolism and thyroid function of mice with deleted wolframin (Wfs1) gene.
We show that the expression of Wfs1 starts during late embryonic development in the dorsal striatum and amygdala, then expands broadly at birth, possessing several transitory regions during maturation.
Present results indicate that the effects of Wfs1-deficiency on behavioral rhythmicity are subtle suggesting that Wfs1 is not a major player in the neural networks responsible for circadian rhythmicity of behavior.
This gene encodes a transmembrane protein, which is located primarily in the endoplasmic reticulum and ubiquitously expressed with highest levels in brain, pancreas, heart, and insulinoma beta-cell lines. Mutations in this gene are associated with Wolfram syndrome, also called DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness), an autosomal recessive disorder. The disease affects the brain and central nervous system. Mutations in this gene can also cause autosomal dominant deafness 6 (DFNA6), also known as DFNA14 or DFNA38. Alternatively spliced transcript variants have been found for this gene.
, Wolfram syndrome 1 homolog
, Wolfram syndrome 1 protein homolog