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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 (zeige ZIC1 Proteine) lamination on spectral domain OCT (zeige Plxna2 Proteine), 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 (zeige GJB2 Proteine) 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 (zeige GJB2 Proteine) mutation; and three cases had biallelic GJB2 (zeige GJB2 Proteine) 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.
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 (zeige EIF3K Proteine) nuclear membrane proteins, NET39, Tmem38A (zeige TMEM38A Proteine), 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 (zeige TRPM5 Proteine) 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 (zeige ATP2A3 Proteine) 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
, Wolfram syndrome 1
, Wolfram syndrome 1 homolog
, Wolfram syndrome 1 protein homolog