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WFS1 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. Additionally we are shipping Wolfram Syndrome 1 Antibodies (36) and Wolfram Syndrome 1 Kits (16) and many more products for this protein.
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Data suggest that a novel mutation in WFS1 [c.13481350 del ins (show INS Proteins) TAG (p.His450*)] causes Wolfram-like syndrome in homozygous daughter with maternal uniparental disomy of chromosome 4; heterozygous mother is unaffected. [CASE REPORT]
Micro-RNA Binding Site Polymorphisms in the WFS1 Gene Are Risk Factors of Diabetes Mellitus.
The analysis of our case, in the light of the most recent literature, suggests a possible role for WFS1 gene in the development of certain brain structures during the fetal period.
A novel missense mutation c.2389G > A (GAC (show GLS Proteins) -AAC (show GLYAT Proteins)) in WFS1 gene causes non-syndromic hearing loss in all, rather than in low or high, frequencies.
Results reveal a role for WFS1 in the negative regulation of SERCA (show ATP2A3 Proteins) and provide further insights into the function of WFS1 in calcium homeostasis.
No association was found between wolframin gene H611R polymorphism and mood disorders.
This study emphasizes the clinical and genetic heterogeneity in patients with WFS. Genotype-phenotype correlations may exist in patients with WFS1 mutations, as demonstrated by the disease onset.
Early-onset Central diabetes insipidus is associated with de novo mutations of the AVP (show AVP Proteins) gene and with hereditary WFS1 gene changes.
Here we review clinical features, molecular mechanisms and mutations of WFS1 gene that relate to this syndrome.[review]
Two familial cases of Wolfram syndrome caused by a novel homozygous WFS1 missense mutation, are reported.
WFS1-knockout mice develop a metabolic phenotype characterized with several physiological dysfunctions.
RNA-sequencing of pancreatic islets from WFS1-deficient mice showed that Trpm5 (show TRPM5 Proteins) 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.
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.
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
, Wolfram syndrome 1
, Wolfram syndrome 1 homolog
, Wolfram syndrome 1 protein homolog