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424 related items for PubMed ID: 28271591

  • 1. A novel heterozygous mutation of the WFS1 gene leading to constitutive endoplasmic reticulum stress is the cause of Wolfram syndrome.
    Morikawa S, Tajima T, Nakamura A, Ishizu K, Ariga T.
    Pediatr Diabetes; 2017 Dec; 18(8):934-941. PubMed ID: 28271591
    [Abstract] [Full Text] [Related]

  • 2. A novel mutation of WFS1 gene leading to increase ER stress and cell apoptosis is associated an autosomal dominant form of Wolfram syndrome type 1.
    Gong Y, Xiong L, Li X, Su L, Xiao H.
    BMC Endocr Disord; 2021 Apr 21; 21(1):76. PubMed ID: 33879153
    [Abstract] [Full Text] [Related]

  • 3. Effect of 4-phenylbutyrate and valproate on dominant mutations of WFS1 gene in Wolfram syndrome.
    Batjargal K, Tajima T, Jimbo EF, Yamagata T.
    J Endocrinol Invest; 2020 Sep 21; 43(9):1317-1325. PubMed ID: 32219690
    [Abstract] [Full Text] [Related]

  • 4. Loss of Function of WFS1 Causes ER Stress-Mediated Inflammation in Pancreatic Beta-Cells.
    Morikawa S, Blacher L, Onwumere C, Urano F.
    Front Endocrinol (Lausanne); 2022 Sep 21; 13():849204. PubMed ID: 35399956
    [Abstract] [Full Text] [Related]

  • 5. Wolfram syndrome 1 gene negatively regulates ER stress signaling in rodent and human cells.
    Fonseca SG, Ishigaki S, Oslowski CM, Lu S, Lipson KL, Ghosh R, Hayashi E, Ishihara H, Oka Y, Permutt MA, Urano F.
    J Clin Invest; 2010 Mar 21; 120(3):744-55. PubMed ID: 20160352
    [Abstract] [Full Text] [Related]

  • 6. Novel mutations in the WFS1 gene are associated with Wolfram syndrome and systemic inflammation.
    Panfili E, Mondanelli G, Orabona C, Belladonna ML, Gargaro M, Fallarino F, Orecchini E, Prontera P, Proietti E, Frontino G, Tirelli E, Iacono A, Vacca C, Puccetti P, Grohmann U, Esposito S, Pallotta MT.
    Hum Mol Genet; 2021 Apr 26; 30(3-4):265-276. PubMed ID: 33693650
    [Abstract] [Full Text] [Related]

  • 7. Wolfram syndrome and WFS1 gene.
    Rigoli L, Lombardo F, Di Bella C.
    Clin Genet; 2011 Feb 26; 79(2):103-17. PubMed ID: 20738327
    [Abstract] [Full Text] [Related]

  • 8. [Wolfram syndrome: clinical features, molecular genetics of WFS1 gene].
    Tanabe K, Matsunaga K, Hatanaka M, Akiyama M, Tanizawa Y.
    Nihon Rinsho; 2015 Feb 26; 73(2):341-9. PubMed ID: 25764693
    [Abstract] [Full Text] [Related]

  • 9. Wolfram syndrome 1 gene (WFS1) product localizes to secretory granules and determines granule acidification in pancreatic beta-cells.
    Hatanaka M, Tanabe K, Yanai A, Ohta Y, Kondo M, Akiyama M, Shinoda K, Oka Y, Tanizawa Y.
    Hum Mol Genet; 2011 Apr 01; 20(7):1274-84. PubMed ID: 21199859
    [Abstract] [Full Text] [Related]

  • 10. A novel mutation of WFS1 gene in a Chinese patient with Wolfram syndrome: a case report.
    Li M, Liu J, Yi H, Xu L, Zhong X, Peng F.
    BMC Pediatr; 2018 Mar 17; 18(1):116. PubMed ID: 29549887
    [Abstract] [Full Text] [Related]

  • 11. Endoplasmic reticulum stress induces Wfs1 gene expression in pancreatic beta-cells via transcriptional activation.
    Ueda K, Kawano J, Takeda K, Yujiri T, Tanabe K, Anno T, Akiyama M, Nozaki J, Yoshinaga T, Koizumi A, Shinoda K, Oka Y, Tanizawa Y.
    Eur J Endocrinol; 2005 Jul 17; 153(1):167-76. PubMed ID: 15994758
    [Abstract] [Full Text] [Related]

  • 12. WFS1 protein expression correlates with clinical progression of optic atrophy in patients with Wolfram syndrome.
    Hu K, Zatyka M, Astuti D, Beer N, Dias RP, Kulkarni A, Ainsworth J, Wright B, Majander A, Yu-Wai-Man P, Williams D, Barrett T.
    J Med Genet; 2022 Jan 17; 59(1):65-74. PubMed ID: 34006618
    [Abstract] [Full Text] [Related]

  • 13. A single base-pair deletion in the WFS1 gene causes Wolfram syndrome.
    Pitt K, James C, Kochar IS, Kapoor A, Jain S, Hussain K, Bennett K.
    J Pediatr Endocrinol Metab; 2011 Jan 17; 24(5-6):389-91. PubMed ID: 21823543
    [Abstract] [Full Text] [Related]

  • 14. WFS1-deficiency increases endoplasmic reticulum stress, impairs cell cycle progression and triggers the apoptotic pathway specifically in pancreatic beta-cells.
    Yamada T, Ishihara H, Tamura A, Takahashi R, Yamaguchi S, Takei D, Tokita A, Satake C, Tashiro F, Katagiri H, Aburatani H, Miyazaki J, Oka Y.
    Hum Mol Genet; 2006 May 15; 15(10):1600-9. PubMed ID: 16571599
    [Abstract] [Full Text] [Related]

  • 15. Sarco(endo)plasmic reticulum ATPase is a molecular partner of Wolfram syndrome 1 protein, which negatively regulates its expression.
    Zatyka M, Da Silva Xavier G, Bellomo EA, Leadbeater W, Astuti D, Smith J, Michelangeli F, Rutter GA, Barrett TG.
    Hum Mol Genet; 2015 Feb 01; 24(3):814-27. PubMed ID: 25274773
    [Abstract] [Full Text] [Related]

  • 16. Dominant ER Stress-Inducing WFS1 Mutations Underlie a Genetic Syndrome of Neonatal/Infancy-Onset Diabetes, Congenital Sensorineural Deafness, and Congenital Cataracts.
    De Franco E, Flanagan SE, Yagi T, Abreu D, Mahadevan J, Johnson MB, Jones G, Acosta F, Mulaudzi M, Lek N, Oh V, Petz O, Caswell R, Ellard S, Urano F, Hattersley AT.
    Diabetes; 2017 Jul 01; 66(7):2044-2053. PubMed ID: 28468959
    [Abstract] [Full Text] [Related]

  • 17. Cataract as a phenotypic marker for a mutation in WFS1, the Wolfram syndrome gene.
    Titah SM, Meunier I, Blanchet C, Lopez S, Rondouin G, Lenaers G, Amati-Bonneau P, Reynier P, Paquis-Flucklinger V, Hamel CP.
    Eur J Ophthalmol; 2012 Jul 01; 22(2):254-8. PubMed ID: 21623591
    [Abstract] [Full Text] [Related]

  • 18. Wolfram syndrome 1 and Wolfram syndrome 2.
    Rigoli L, Di Bella C.
    Curr Opin Pediatr; 2012 Aug 01; 24(4):512-7. PubMed ID: 22790102
    [Abstract] [Full Text] [Related]

  • 19. Metabolomics of the Wolfram Syndrome 1 Gene (Wfs1) Deficient Mice.
    Porosk R, Terasmaa A, Mahlapuu R, Soomets U, Kilk K.
    OMICS; 2017 Dec 01; 21(12):721-732. PubMed ID: 29257731
    [Abstract] [Full Text] [Related]

  • 20. Wolfram syndrome: new pathophysiological insights and therapeutic strategies.
    Mishra R, Chen BS, Richa P, Yu-Wai-Man P.
    Ther Adv Rare Dis; 2021 Dec 01; 2():26330040211039518. PubMed ID: 37181110
    [Abstract] [Full Text] [Related]

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