Use your antibodies-online credentials, if available.
Keine Produkte auf Ihrer Vergleichsliste.
Ihr Warenkorb ist leer.
Weitere Synonyme anzeigen
Wählen Sie die gewünschte Spezies
analysis of a low-frequency coding variant in the WFS1 gene that is enriched in Ashkenazi Jewish individuals and causes a mild form of Wolfram syndrome characterized by young-onset diabetes and reduced penetrance for optic atrophy
Altered expression of WFS1 and NOTCH2 genes may play a role in pathogenesis and development of DN in patients with T2DM.
A nonsynonymous mutation in the WFS1 gene causing late-onset sensorineural hearing impairment with audiogram configurations typical for age-related hearing impairment.
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 lamination on spectral domain OCT, 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 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 mutation; and three cases had biallelic GJB2 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.
Data show that mutations in Wolfram syndrome 1 (wolframin) protein (WFS1) gene were identified in three children with Wolfram syndrome.
provides genotyping protocols readily applicable in any multiplex SNP and VNTR analyses, moreover confirms and extends previous results about the role of WFS1 polymorphisms in the genetic risk of diabetes mellitus
In this study, we found that patients with isolated, autosomal recessive nonsyndromic optic atropy have biallelic mutations in WFS1. We found that a high percentage (15%) of autosomal recessive non-syndromic optic atropy in families is caused by WFS1 mutations
Nonsense mutation in the WFS1 gene is associated with Wolfram syndrome.
Four novel mutations of the WFS1 gene in Iranian Wolfram syndrome pedigrees identified.
Data show that Wolfram syndrome 1 (WFS1; wolframin) promoter activity was highest with the most frequent haplotype (H1; ATCGT) and lowest with second most frequent haplotype (H2; GATCG).
A mutation (c.376G>A, p.A126T) was found in all 5 family members affected with Wolfram syndrome in homozygous state and in both parents in heterozygous state.
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 nuclear membrane proteins, NET39, Tmem38A, 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 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 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.
Gene expression profiling was performed in Wfs1-deficient mice.
Sex differences in the development of diabetes in mice with deleted wolframin (Wfs1) gene.
ER stress induces Smurf1 degradation and WFS1 up-regulation
homozygous Wfs1 mutant mice (AUC = 0.212 nM/mul h) show significantly decreased striatal dopamine output in response to high-concentration [K+] challenge as compared with wild-type
Wolfram syndrome 1 gene (WFS1) product localizes to secretory granules and determines granule acidification in pancreatic beta-cells.
a role for WFS1 in the negative regulation of ER stress signaling and in the pathogenesis of diseases involving chronic, unresolvable ER stress, such as pancreatic beta cell death in diabetes.
Data show that the impaired fertility of Wfs1KO male mice is most likely due to changes in sperm morphology and reduced number of spermatogenic cells.
may play a role in inner ear ion homeostasis as maintained by the canalicular reticulum
The role of WFS1 in the etiology of Wolfram syndrome is examined in WFS1 mutant mice.
Data indicate that endoplasmic reticulum (ER)-stress and N-glycosylation play important roles in WFS1 expression and stability, and also suggest regulatory roles for this protein in ER-stress induced cell death.
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
, Wolfram syndrome 1
, Wolfram syndrome 1 protein homolog
, Wolfram syndrome 1 (wolframin) L homeolog