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Wolfram syndrome 1

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. [provided by RefSeq, Mar 2009] (from NCBI)
Top mentioned proteins: AGE, Insulin, HAD, TCF4, Hex
Papers on WFS1
c.376G>A mutation in WFS1 gene causes Wolfram syndrome without deafness.
Emamalizadeh et al., Tehrān, Iran. In Eur J Med Genet, Feb 2016
A gene called WFS1 is identified on chromosome 4p, responsible for Wolfram syndrome.
Analysis of metabolic effects of menthol on WFS1-deficient mice.
Kõks et al., Tartu, Estonia. In Physiol Rep, Jan 2016
In this study, we investigated the physiological regulation of energy metabolism in wild-type (WT) and WFS1-deficient (Wfs1KO) mice by measuring the effects of menthol treatment on the O2 consumption, CO2 production, rectal body temperature, and heat production.
Genomic approach to selective vulnerability of the hippocampus in brain ischemia-hypoxia.
Schmidt-Kastner, Boca Raton, United States. In Neuroscience, Dec 2015
[Wolfram syndrome: clinical features, molecular genetics of WFS1 gene].
Tanizawa et al., In Nihon Rinsho, Feb 2015
Most affected individuals carry recessive mutations in the Wolfram syndrome 1 gene(WFS1).
Phenotype Prediction of Pathogenic Nonsynonymous Single Nucleotide Polymorphisms in WFS1.
Cao et al., Nanjing, China. In Sci Rep, 2014
The gene for WS, wolfram syndrome 1 gene (WFS1), is located on human chromosome 4p16.1 and encodes a transmembrane protein.
Micro-RNA Binding Site Polymorphisms in the WFS1 Gene Are Risk Factors of Diabetes Mellitus.
Rónai et al., Budapest, Hungary. In Plos One, 2014
Although the connection between loss of function mutations of the WFS1 gene and DIDMOAD-syndrome including diabetes mellitus underpins the significance of wolframin in the pathogenesis, exact role of WFS1 polymorphic variants in the development of type 1 and type 2 diabetes has not been discovered yet.
The Association of Type 2 Diabetes Loci Identified in Genome-Wide Association Studies with Metabolic Syndrome and Its Components in a Chinese Population with Type 2 Diabetes.
Yang et al., Beijing, China. In Plos One, 2014
Genetic variants of WFS1, CDKAL1, CDKN2BAS, TCF7L2, HHEX, KCNQ1, TSPAN8/LGR5, FTO, and TCF2 were associated with the risk for T2D with MetS, as well as the risk for development of T2D with at least one of the MetS components (P < 0.05).
Strategy for the customized mass screening of genetic sensorineural hearing loss in koreans.
Choi et al., Seoul, South Korea. In Korean J Audiol, 2014
The other causative genes were MRNR1, WFS1, COCH, TECTA, MYO6, COL11A2, EYA4, GJB3, OTOF, STRC, MYO3A, and GJB2.
Pancreatic gene variants potentially associated with dipeptidyl peptidase-4 inhibitor treatment response in Type 2 diabetes.
Mustafa et al., Kuala Lumpur, Malaysia. In Pharmacogenomics, 2014
In the adult pancreas, the expression of the genes PAX4, KCNQ1, TCF7L2, KCNJ11, ABCC8, MTNR1B and WFS1 are mainly restricted to β cells to maintain glucose homeostasis.
Systematic review of genome-wide gene expression studies of bipolar disorder.
Zandi et al., Baltimore, United States. In Bmc Psychiatry, 2012
Among these were FKBP5 and WFS1, which have been previously implicated in mood disorders.
Wolfram syndrome 1 and adenylyl cyclase 8 interact at the plasma membrane to regulate insulin production and secretion.
Burcin et al., Cambridge, United States. In Nat Cell Biol, 2012
Wolfram syndrome 1 (WFS1) has been shown to be an important regulator of the ER stress signalling pathway; however, its role in β-cell function remains unclear.
Comorbidity of GJB2 and WFS1 mutations in one family.
Matsunaga et al., Tokyo, Japan. In Gene, 2012
Two individuals who had heterozygosity of GJB2 mutations and heterozygosity of WFS1 mutations showed low-frequency hearing loss. One individual who had homozygosity of GJB2 mutation without WFS1 mutation had moderate, gradual high tone hearing loss.
Rapidly progressive renal disease as part of Wolfram syndrome in a large inbred Turkish family due to a novel WFS1 mutation (p.Leu511Pro).
Acikgoz et al., Van, Turkey. In Eur J Med Genet, 2012
A new homozygous WFS1 mutation causing causing Wolfram syndrome is identified in a large inbred Turkish family.
A predictive model of the association between gene polymorphism and the risk of noise-induced hearing loss caused by gunfire noise.
Chiu et al., Kao-hsiung, Taiwan. In J Chin Med Assoc, 2012
genetic variation of Wolfram syndrome type 1 gene was a more crucial factor than other genes in causing hearing loss.
Hypothalamic gene expression profile indicates a reduction in G protein signaling in the Wfs1 mutant mice.
Schalkwyk et al., Tartu, Estonia. In Physiol Genomics, 2012
Gene expression profiling was performed in Wfs1-deficient mice.
A single base-pair deletion in the WFS1 gene causes Wolfram syndrome.
Bennett et al., London, United Kingdom. In J Pediatr Endocrinol Metab, 2010
report a consanguineous family with three siblings affected by Wolfram syndrome. A homozygous single base pair deletion (c.877delC, L293fsX303) was found in the WFS1 gene in all three affected siblings
Clinical risk factors, DNA variants, and the development of type 2 diabetes.
Groop et al., Malmö, Sweden. In N Engl J Med, 2008
Variants in 11 genes (TCF7L2, PPARG, FTO, KCNJ11, NOTCH2, WFS1, CDKAL1, IGF2BP2, SLC30A8, JAZF1, and HHEX) were significantly associated with the risk of type 2 diabetes independently of clinical risk factors; variants in 8 of these genes were associated with impaired beta-cell function.
Common variants in WFS1 confer risk of type 2 diabetes.
Barroso et al., Cambridge, United Kingdom. In Nat Genet, 2007
In a pooled analysis comprising 9,533 cases and 11,389 controls, SNPs in WFS1 were strongly associated with common type 2 diabetes risk.
Regulation of insulin biosynthesis in pancreatic beta cells by an endoplasmic reticulum-resident protein kinase IRE1.
Urano et al., Worcester, United States. In Cell Metab, 2006
IRE1 activation by high glucose does not accompany XBP-1 splicing and BiP dissociation but upregulates its target genes such as WFS1.
A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome).
Permutt et al., Ube, Japan. In Nat Genet, 1998
Mutations in a novel gene (WFS1) encoding a putative transmembrane protein were found in all affected individuals in six WFS families, and these mutations were associated with the disease phenotype.
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