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There are 7026 results for: content related to: Two Novel Mutations at Exon 8 of the Sequestosome 1 ( SQSTM1 ) Gene in an Italian Series of Patients Affected by Paget's Disease of Bone (PDB)

  1. You have full text access to this OnlineOpen article
    A nonsynonymous TNFRSF11A variation increases NFκB activity and the severity of Paget's disease

    Journal of Bone and Mineral Research

    Volume 27, Issue 2, February 2012, Pages: 443–452, Fernando Gianfrancesco, Domenico Rendina, Marco Di Stefano, Alessandra Mingione, Teresa Esposito, Daniela Merlotti, Salvatore Gallone, Sara Magliocca, Alice Goode, Daniela Formicola, Giovanna Morello, Robert Layfield, Annalisa Frattini, Gianpaolo De Filippo, Ranuccio Nuti, Mark Searle, Pasquale Strazzullo, Giancarlo Isaia, Giuseppe Mossetti and Luigi Gennari

    Article first published online : 23 JAN 2012, DOI: 10.1002/jbmr.542

  2. SQSTM1/p62/A170 regulates the severity of Legionella pneumophila pneumonia by modulating inflammasome activity

    European Journal of Immunology

    Volume 44, Issue 4, April 2014, Pages: 1084–1092, Shigeo Ohtsuka, Yukio Ishii, Masashi Matsuyama, Satoshi Ano, Yuko Morishima, Toru Yanagawa, Eiji Warabi and Nobuyuki Hizawa

    Article first published online : 28 JAN 2014, DOI: 10.1002/eji.201344091

  3. You have full text access to this OnlineOpen article
    SQSTM1 gene analysis and gene-environment interaction in Paget's disease of bone

    Journal of Bone and Mineral Research

    Volume 25, Issue 6, June 2010, Pages: 1375–1384, Luigi Gennari, Fernando Gianfrancesco, Marco Di Stefano, Domenico Rendina, Daniela Merlotti, Teresa Esposito, Salvatore Gallone, Pina Fusco, Innocenzo Rainero, Pierpaola Fenoglio, Maria Mancini, Giuseppe Martini, Simona Bergui, Gianpaolo De Filippo, Giancarlo Isaia, Pasquale Strazzullo, Ranuccio Nuti and Giuseppe Mossetti

    Article first published online : 15 JAN 2010, DOI: 10.1002/jbmr.31

  4. You have full text access to this OnlineOpen article
    Paget's Disease of Bone in the French Population: Novel SQSTM1 Mutations, Functional Analysis, and Genotype–Phenotype Correlations

    Journal of Bone and Mineral Research

    Volume 22, Issue 2, February 2007, Pages: 310–317, Corinne Collet, Laëtitia Michou, Maurice Audran, Stéphanie Chasseigneaux, Pascal Hilliquin, Thomas Bardin, Isabelle Lemaire, François Cornélis, Jean-Marie Launay, Philippe Orcel and Jean-Louis Laplanche

    Article first published online : 13 NOV 2006, DOI: 10.1359/jbmr.061106

  5. You have full text access to this OnlineOpen article
    Somatic Mutations in SQSTM1 Detected in Affected Tissues From Patients With Sporadic Paget's Disease of Bone

    Journal of Bone and Mineral Research

    Volume 24, Issue 3, March 2009, Pages: 484–494, Anand Merchant, Magda Smielewska, Nimit Patel, Jennifer D Akunowicz, Elizabeth A Saria, John D Delaney, Robin J Leach, Margaret Seton and Marc F Hansen

    Article first published online : 3 NOV 2008, DOI: 10.1359/jbmr.081105

  6. You have free access to this content
    Delayed Development of Paget's Disease in Offspring Inheriting SQSTM1 Mutations

    Journal of Bone and Mineral Research

    Volume 22, Issue 3, March 2007, Pages: 411–415, Mark J Bolland, Pak Cheung Tong, Dorit Naot, Karen E Callon, Diana J Wattie, Greg D Gamble and Tim Cundy

    Article first published online : 18 DEC 2006, DOI: 10.1359/jbmr.061204

  7. You have full text access to this OnlineOpen article
    Sequestosome 1 Mutations in Paget's Disease of Bone in Australia: Prevalence, Genotype/Phenotype Correlation, and a Novel Non-UBA Domain Mutation (P364S) Associated With Increased NF-κB Signaling Without Loss of Ubiquitin Binding

    Journal of Bone and Mineral Research

    Volume 24, Issue 7, July 2009, Pages: 1216–1223, Sarah L Rea, John P Walsh, Lynley Ward, Aaron L Magno, Bryan K Ward, Barry Shaw, Robert Layfield, G Neil Kent, Jiake Xu and Thomas Ratajczak

    Article first published online : 16 FEB 2009, DOI: 10.1359/jbmr.090214

  8. You have full text access to this OnlineOpen article
    Novel UBA Domain Mutations of SQSTM1 in Paget's Disease of Bone: Genotype Phenotype Correlation, Functional Analysis, and Structural Consequences

    Journal of Bone and Mineral Research

    Volume 19, Issue 7, July 2004, Pages: 1122–1127, Lynne J Hocking, Gavin JA Lucas, Anna Daroszewska, Tim Cundy, Geoff C Nicholson, Judit Donath, John P Walsh, Catriona Finlayson, James R Cavey, Barbara Ciani, Paul W Sheppard, Mark S Searle, Robert Layfield and Stuart H Ralston

    Article first published online : 22 MAR 2004, DOI: 10.1359/JBMR.0403015

  9. You have full text access to this OnlineOpen article
    Mutations of SQSTM1 are associated with severity and clinical outcome in paget disease of bone

    Journal of Bone and Mineral Research

    Volume 25, Issue 11, November 2010, Pages: 2368–2373, Micaela Rios Visconti, Anne L Langston, Nerea Alonso, Kirsteen Goodman, Peter L Selby, William D Fraser and Stuart H Ralston

    Article first published online : 17 MAY 2010, DOI: 10.1002/jbmr.132

  10. Common susceptibility alleles and SQSTM1 mutations predict disease extent and severity in a multinational study of patients with Paget's disease

    Journal of Bone and Mineral Research

    Volume 28, Issue 11, November 2013, Pages: 2338–2346, Omar ME Albagha, Micaela Rios Visconti, Nerea Alonso, Sachin Wani, Kirsteen Goodman, William D Fraser, Luigi Gennari, Daniela Merlotti, Fernando Gianfrancesco, Teresa Esposito, Domenico Rendina, Marco di Stefano, Giancarlo Isaia, Maria Luisa Brandi, Francesca Giusti, Javier Del Pino-Montes, Luis Corral-Gudino, Rogelio Gonzalez-Sarmiento, Lynley Ward, Sarah L Rea, Thomas Ratajczak, John P Walsh and Stuart H Ralston

    Article first published online : 18 OCT 2013, DOI: 10.1002/jbmr.1975

  11. You have open access to this content
    Enhanced neointimal hyperplasia and carotid artery remodelling in sequestosome 1 deficient mice

    Journal of Cellular and Molecular Medicine

    Volume 14, Issue 6b, June 2010, Pages: 1546–1554, Rika Sugimoto, Eiji Warabi, Satoru Katayanagi, Satoshi Sakai, Junya Uwayama, Toru Yanagawa, Ayaka Watanabe, Harumi Harada, Kiyoshi Kitamura, Noriko Noguchi, Hiroshi Yoshida, Richard C.M. Siow, Giovanni E. Mann and Tetsuro Ishii

    Article first published online : 24 SEP 2009, DOI: 10.1111/j.1582-4934.2009.00914.x

  12. You have full text access to this OnlineOpen article
    Characterization of a Non-UBA Domain Missense Mutation of Sequestosome 1 (SQSTM1) in Paget's Disease of Bone

    Journal of Bone and Mineral Research

    Volume 24, Issue 4, April 2009, Pages: 632–642, Dereen Najat, Thomas Garner, Thilo Hagen, Barry Shaw, Paul W Sheppard, Alberto Falchetti, Francesca Marini, Maria L Brandi, Jed E Long, James R Cavey, Mark S Searle and Robert Layfield

    Article first published online : 1 DEC 2008, DOI: 10.1359/jbmr.081204

  13. You have full text access to this OnlineOpen article
    Ubiquitin-Associated Domain Mutations of SQSTM1 in Paget's Disease of Bone: Evidence for a Founder Effect in Patients of British Descent

    Journal of Bone and Mineral Research

    Volume 20, Issue 2, February 2005, Pages: 227–231, Gavin JA Lucas, Lynne J Hocking, Anna Daroszewska, Tim Cundy, Geoff C Nicholson, John P Walsh, William D Fraser, Christian Meier, Michael J Hooper and Stuart H Ralston

    Article first published online : 16 NOV 2004, DOI: 10.1359/JBMR.041106

  14. You have free access to this content
    Genetic aspects of the Paget’s disease of bone: concerns on the introduction of DNA-based tests in the clinical practice. Advantages and disadvantages of its application

    European Journal of Clinical Investigation

    Volume 40, Issue 7, July 2010, Pages: 655–667, Falchetti Alberto, Marini Francesca, Masi Laura, Amedei Antonietta and Brandi Maria Luisa

    Article first published online : 9 JUN 2010, DOI: 10.1111/j.1365-2362.2010.02312.x

    Corrected by:

    Corrigendum

    Vol. 40, Issue 10, 963, Article first published online: 13 SEP 2010

  15. You have full text access to this OnlineOpen article
    Clinical and Cellular Phenotypes Associated With Sequestosome 1 (SQSTM1) Mutations

    Journal of Bone and Mineral Research

    Volume 21, Issue S2, December 2006, Pages: P45–P50, Robin J Leach, Frederick R Singer, Yasmin Ench, Julie H Wisdom, Diana S Pina and Teresa L Johnson-Pais

    Article first published online : 1 DEC 2006, DOI: 10.1359/jbmr.06s208

  16. You have full text access to this OnlineOpen article
    ASBMR 26th Annual Meeting M001–M585

    Journal of Bone and Mineral Research

    Volume 19, Issue S1, 2004, Pages: S343–S484,

    Article first published online : 16 JUN 2011, DOI: 10.1002/jbmr.5650191306

  17. You have free access to this content
    Identification of a Major Locus for Paget's Disease on Chromosome 10p13 in Families of British Descent

    Journal of Bone and Mineral Research

    Volume 23, Issue 1, January 2008, Pages: 58–63, Gavin JA Lucas, Phillip L Riches, Lynne J Hocking, Tim Cundy, Geoff C Nicholson, John P Walsh and Stuart H Ralston

    Article first published online : 1 OCT 2007, DOI: 10.1359/jbmr.071004

  18. You have full text access to this OnlineOpen article
    Three Novel Mutations in SQSTM1 Identified in Familial Paget's Disease of Bone

    Journal of Bone and Mineral Research

    Volume 18, Issue 10, October 2003, Pages: 1748–1753, Teresa L Johnson-Pais, Julie H Wisdom, Korri S Weldon, Jannine D Cody, Marc F Hansen, Frederick R Singer and Robin J Leach

    Article first published online : 1 OCT 2003, DOI: 10.1359/jbmr.2003.18.10.1748

  19. You have full text access to this OnlineOpen article
    Familial Paget's disease in The Netherlands: Occurrence, identification of new mutations in the sequestosome 1 gene, and their clinical associations

    Arthritis & Rheumatism

    Volume 50, Issue 5, May 2004, Pages: 1650–1654, E. W. M. Eekhoff, M. Karperien, D. Houtsma, A. H. Zwinderman, C. Dragoiescu, A. L. J. Kneppers and S. E. Papapoulos

    Article first published online : 6 MAY 2004, DOI: 10.1002/art.20224

  20. You have full text access to this OnlineOpen article
    Sequestosome 1: Mutation Frequencies, Haplotypes, and Phenotypes in Familial Paget's Disease of Bone

    Journal of Bone and Mineral Research

    Volume 21, Issue S2, December 2006, Pages: P38–P44, Jean Morissette, Nancy Laurin and Jacques P Brown

    Article first published online : 1 DEC 2006, DOI: 10.1359/jbmr.06s207