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There are 29861 results for: content related to: Study of the WFS1 gene and mitochondrial DNA in Spanish Wolfram syndrome families

  1. Wolfram syndrome and WFS1 gene

    Clinical Genetics

    Volume 79, Issue 2, February 2011, Pages: 103–117, L Rigoli, F Lombardo and C Di Bella

    Version of Record online : 25 AUG 2010, DOI: 10.1111/j.1399-0004.2010.01522.x

  2. Mutation update and uncommon phenotypes in a French cohort of 96 patients with WFS1-related disorders

    Clinical Genetics

    Volume 87, Issue 5, May 2015, Pages: 430–439, A. Chaussenot, C. Rouzier, M. Quere, M. Plutino, S. Ait-El-Mkadem, S. Bannwarth, M. Barth, H. Dollfus, P. Charles, M. Nicolino, B. Chabrol, B. Vialettes and V. Paquis-Flucklinger

    Version of Record online : 6 AUG 2014, DOI: 10.1111/cge.12437

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    Distribution of Wfs1 protein in the central nervous system of the mouse and its relation to clinical symptoms of the Wolfram syndrome

    Journal of Comparative Neurology

    Volume 509, Issue 6, 20 August 2008, Pages: 642–660, Hendrik Luuk, Sulev Koks, Mario Plaas, Jens Hannibal, Jens F. Rehfeld and Eero Vasar

    Version of Record online : 12 JUN 2008, DOI: 10.1002/cne.21777

  4. Identification of novel mutations in WFS1 and genotype–phenotype correlation in Wolfram syndrome

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 14, 15 July 2007, Pages: 1605–1612, A. Cano, C. Rouzier, S. Monnot, B. Chabrol, J. Conrath, P. Lecomte, B. Delobel, P. Boileau, R. Valero, V. Procaccio, V. Paquis-Flucklinger and B. Vialettes

    Version of Record online : 13 JUN 2007, DOI: 10.1002/ajmg.a.31809

  5. Wolfram syndrome 1 (Wfs1) gene expression in the normal mouse visual system

    Journal of Comparative Neurology

    Volume 510, Issue 1, 1 September 2008, Pages: 1–23, June Kawano, Yukio Tanizawa and Koh Shinoda

    Version of Record online : 8 JUL 2008, DOI: 10.1002/cne.21734

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    Wolfram syndrome in French population: Characterization of novel mutations and polymorphisms in the WFS1 gene

    Human Mutation

    Volume 25, Issue 1, January 2005, Pages: 99–100, Fabienne Giuliano, Sylvie Bannwarth, Sophie Monnot, Aline Cano, Brigitte Chabrol, Bernard Vialettes, Bruno Delobel and Veronique Paquis-Flucklinger

    Version of Record online : 16 DEC 2004, DOI: 10.1002/humu.9300

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    WFS1 protein modulates the free Ca2+ concentration in the endoplasmic reticulum

    FEBS Letters

    Volume 580, Issue 24, October 16, 2006, Pages: 5635–5640, Daisuke Takei, Hisamitsu Ishihara, Suguru Yamaguchi, Takahiro Yamada, Akira Tamura, Hideki Katagiri, Yoshio Maruyama and Yoshitomo Oka

    Version of Record online : 15 SEP 2006, DOI: 10.1016/j.febslet.2006.09.007

  8. Autoimmune disease in a DFNA6/14/38 family carrying a novel missense mutation in WFS1

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 17, 1 September 2008, Pages: 2258–2265, Michael S. Hildebrand, Jessica L. Sorensen, Maren Jensen, William J. Kimberling and Richard J.H. Smith

    Version of Record online : 7 AUG 2008, DOI: 10.1002/ajmg.a.32449

  9. You have full text access to this OnlineOpen article
    Analysis of metabolic effects of menthol on WFS1-deficient mice

    Physiological Reports

    Volume 4, Issue 1, January 2016, Marite Ehrlich, Marilin Ivask, Atso Raasmaja and Sulev Kõks

    Version of Record online : 5 JAN 2016, DOI: 10.14814/phy2.12660

  10. Association of aggression with a novel microRNA binding site polymorphism in the wolframin gene

    American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

    Volume 162, Issue 4, June 2013, Pages: 404–412, Reka Kovacs-Nagy, Zsuzsanna Elek, Anna Szekely, Tibor Nanasi, Maria Sasvari-Szekely and Zsolt Ronai

    Version of Record online : 3 MAY 2013, DOI: 10.1002/ajmg.b.32157

  11. Wfs1-deficient animals have brain-region-specific changes of Na+, K+-ATPase activity and mRNA expression of α1 and β1 subunits

    Journal of Neuroscience Research

    Volume 93, Issue 3, March 2015, Pages: 530–537, S. Sütt, A. Altpere, R. Reimets, T. Visnapuu, M. Loomets, S. Raud, T. Salum, R. Mahlapuu, C. Kairane, M. Zilmer and E. Vasar

    Version of Record online : 10 NOV 2014, DOI: 10.1002/jnr.23508

  12. You have full text access to this OnlineOpen article
    RNA-sequencing of WFS1-deficient pancreatic islets

    Physiological Reports

    Volume 4, Issue 7, April 2016, Marilin Ivask, Alison Hugill and Sulev Kõks

    Version of Record online : 6 APR 2016, DOI: 10.14814/phy2.12750

  13. A novel heterozygous mutation of the WFS1 gene leading to constitutive endoplasmic reticulum stress is the cause of Wolfram syndrome

    Pediatric Diabetes

    Shuntaro Morikawa, Toshihiro Tajima, Akie Nakamura, Katsura Ishizu and Tadashi Ariga

    Version of Record online : 8 MAR 2017, DOI: 10.1111/pedi.12513

  14. Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease

    Human Mutation

    Volume 22, Issue 4, October 2003, Pages: 275–287, Kim Cryns, Theru A. Sivakumaran, Jody M.W. Van den Ouweland, Ronald J.E. Pennings, Cor W.R.J. Cremers, Kris Flothmann, Terry-Lynn Young, Richard J.H. Smith, Marci M. Lesperance and Guy Van Camp

    Version of Record online : 26 AUG 2003, DOI: 10.1002/humu.10258

  15. Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment

    American Journal of Medical Genetics Part A

    Volume 155, Issue 6, June 2011, Pages: 1298–1313, Nanna D. Rendtorff, Marianne Lodahl, Houda Boulahbel, Ida R. Johansen, Arti Pandya, Katherine O. Welch, Virginia W. Norris, Kathleen S. Arnos, Maria Bitner-Glindzicz, Sarah B. Emery, Marilyn B. Mets, Toril Fagerheim, Kristina Eriksson, Lars Hansen, Helene Bruhn, Claes Möller, Sture Lindholm, Stefan Ensgaard, Marci M. Lesperance and Lisbeth Tranebjaerg

    Version of Record online : 28 APR 2011, DOI: 10.1002/ajmg.a.33970

  16. First prenatal diagnosis for Wolfram syndrome by molecular analysis of the WFS1 gene

    Prenatal Diagnosis

    Volume 24, Issue 10, October 2004, Pages: 787–789, Enric Domènech, Helena Kruyer, Carolina Gómez, Maria Teresa Calvo and Virginia Nunes

    Version of Record online : 25 OCT 2004, DOI: 10.1002/pd.982

  17. Wolfram syndrome: important implications for pediatricians and pediatric endocrinologists

    Pediatric Diabetes

    Volume 11, Issue 1, February 2010, Pages: 28–37, Sharath Kumar

    Version of Record online : 14 DEC 2009, DOI: 10.1111/j.1399-5448.2009.00518.x

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    XBP1 induces WFS1 through an endoplasmic reticulum stress response element-like motif in SH-SY5Y cells

    Journal of Neurochemistry

    Volume 97, Issue 2, April 2006, Pages: 545–555, Chihiro Kakiuchi, Mizuho Ishiwata, Akiko Hayashi and Tadafumi Kato

    Version of Record online : 15 MAR 2006, DOI: 10.1111/j.1471-4159.2006.03772.x

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    Wolfram syndrome-associated mutations lead to instability and proteasomal degradation of wolframin

    FEBS Letters

    Volume 580, Issue 16, July 10, 2006, Pages: 4000–4004, Sabine Hofmann and Matthias F. Bauer

    Version of Record online : 22 JUN 2006, DOI: 10.1016/j.febslet.2006.06.036

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    Molecular detection of novel WFS1 mutations in patients with Wolfram syndrome by a DHPLC-based assay

    Human Mutation

    Volume 21, Issue 6, June 2003, Pages: 622–629, Alessia Colosimo, Valentina Guida, Luciana Rigoli, Chiara Di Bella, Alessandro De Luca, Silvana Briuglia, Liborio Stuppia, Damiano Carmelo Salpietro and Bruno Dallapiccola

    Version of Record online : 18 APR 2003, DOI: 10.1002/humu.10215