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There are 7123 results for: content related to: SNX10 mutations define a subgroup of human autosomal recessive osteopetrosis with variable clinical severity

  1. You have full text access to this OnlineOpen article
    As Little as Needed: The Extraordinary Case of a Mild Recessive Osteopetrosis Owing to a Novel Splicing Hypomorphic Mutation in the TCIRG1 Gene

    Journal of Bone and Mineral Research

    Volume 29, Issue 7, July 2014, Pages: 1646–1650, Cristina Sobacchi, Alessandra Pangrazio, Antonio González-Meneses Lopez, Diego Pascual-Vaca Gomez, Maria Elena Caldana, Lucia Susani, Paolo Vezzoni and Anna Villa

    Article first published online : 25 JUN 2014, DOI: 10.1002/jbmr.2203

  2. Structure of human SNX10 reveals insights into its role in human autosomal recessive osteopetrosis

    Proteins: Structure, Function, and Bioinformatics

    Volume 82, Issue 12, December 2014, Pages: 3483–3489, Tingting Xu, Jinxin Xu, Yinghua Ye, Qi Wang, Xiaodong Shu, Duanqing Pei and Jinsong Liu

    Article first published online : 1 OCT 2014, DOI: 10.1002/prot.24689

  3. Long-term survival in infantile malignant autosomal recessive osteopetrosis secondary to homozygous p.Arg526Gln mutation in CLCN7

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 4, April 2012, Pages: 909–916, Piranit Nik Kantaputra, Saranya Thawanaphong, Witchapong Issarangporn, Phennapha Klangsinsirikul, Atsushi Ohazama, Paul Sharpe and Chayarop Supanchart

    Article first published online : 14 MAR 2012, DOI: 10.1002/ajmg.a.35264

  4. You have full text access to this OnlineOpen article
    RANK-dependent autosomal recessive osteopetrosis: Characterization of five new cases with novel mutations

    Journal of Bone and Mineral Research

    Volume 27, Issue 2, February 2012, Pages: 342–351, Alessandra Pangrazio, Barbara Cassani, Matteo M Guerrini, Julie C Crockett, Veronica Marrella, Luca Zammataro, Dario Strina, Ansgar Schulz, Claire Schlack, Uwe Kornak, David J Mellis, Angela Duthie, Miep H Helfrich, Anne Durandy, Despina Moshous, Ashok Vellodi, Robert Chiesa, Paul Veys, Nadia Lo Iacono, Paolo Vezzoni, Alain Fischer, Anna Villa and Cristina Sobacchi

    Article first published online : 23 JAN 2012, DOI: 10.1002/jbmr.559

  5. You have free access to this content
    Osteopetrosis rescue upon RANKL administration to Rankl/ mice: A new therapy for human RANKL-dependent ARO

    Journal of Bone and Mineral Research

    Volume 27, Issue 12, December 2012, Pages: 2501–2510, Nadia Lo Iacono, Harry C Blair, Pietro L Poliani, Veronica Marrella, Francesca Ficara, Barbara Cassani, Fabio Facchetti, Elena Fontana, Matteo M Guerrini, Elisabetta Traggiai, Francesca Schena, Marianna Paulis, Stefano Mantero, Antonio Inforzato, Serenella Valaperta, Alessandra Pangrazio, Laura Crisafulli, Virginia Maina, Paul Kostenuik, Paolo Vezzoni, Anna Villa and Cristina Sobacchi

    Article first published online : 19 NOV 2012, DOI: 10.1002/jbmr.1712

  6. TCIRG1-dependent recessive osteopetrosis: Mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNA

    Human Mutation

    Volume 24, Issue 3, September 2004, Pages: 225–235, Lucia Susani, Alessandra Pangrazio, Cristina Sobacchi, Anna Taranta, Geert Mortier, Ravi Savarirayan, Anna Villa, Paul Orchard, Paolo Vezzoni, Alberto Albertini, Annalisa Frattini and Franco Pagani

    Article first published online : 26 JUL 2004, DOI: 10.1002/humu.20076

  7. A patient with TCIRG1-related infantile osteopetrosis presenting with congenital anomalies: Chance association or a case for pleiotropy?

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 24, 15 December 2007, Pages: 3140–3143, Robert L. Conway and Rena E. Falk

    Article first published online : 14 NOV 2007, DOI: 10.1002/ajmg.a.32102

  8. You have free access to this content
    Characterization of a Novel Alu-Alu Recombination-Mediated Genomic Deletion in the TCIRG1 Gene in Five Osteopetrotic Patients

    Journal of Bone and Mineral Research

    Volume 24, Issue 1, January 2009, Pages: 162–167, Alessandra Pangrazio, Maria Elena Caldana, Cristina Sobacchi, Cristina Panaroni, Lucia Susani, Ercan Mihci, Maria Luigia Cavaliere, Silvia Giliani, Anna Villa and Annalisa Frattini

    Article first published online : 18 AUG 2008, DOI: 10.1359/jbmr.080818

  9. You have free access to this content
    Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations

    Human Mutation

    Volume 31, Issue 1, January 2010, Pages: E1071–E1080, Alessandra Pangrazio, Michael Pusch, Elena Caldana, Annalisa Frattini, Edoardo Lanino, Parag M Tamhankar, Shubha Phadke, Antonio Gonzalez Meneses Lopez, Paul Orchard, Ercan Mihci, Mario Abinun, Michael Wright, Kim Vettenranta, Ivo Bariæ, Daniela Melis, Ilhan Tezcan, Clarisse Baumann, Franco Locatelli, Marco Zecca, Edwin Horwitz, Lamia Sfaihi Ben Mansour, Mirjam Van Roij, Paolo Vezzoni, Anna Villa and Cristina Sobacchi

    Article first published online : 1 DEC 2009, DOI: 10.1002/humu.21167

  10. You have free access to this content
    The V–ATPase a3 subunit mutation R740S is dominant negative and results in osteopetrosis in mice

    Journal of Bone and Mineral Research

    Volume 26, Issue 7, July 2011, Pages: 1484–1493, Noelle Ochotny, Ann M Flenniken, Celeste Owen, Irina Voronov, Ralph A Zirngibl, Lucy R Osborne, Janet E Henderson, S Lee Adamson, Janet Rossant, Morris F Manolson and Jane E Aubin

    Article first published online : 21 JUN 2011, DOI: 10.1002/jbmr.355

  11. You have free access to this content
    A single-center experience in 20 patients with infantile malignant osteopetrosis

    American Journal of Hematology

    Volume 84, Issue 8, August 2009, Pages: 473–479, Evelina Mazzolari, Concetta Forino, Alessia Razza, Fulvio Porta, Anna Villa and Luigi Daniele Notarangelo

    Article first published online : 14 MAY 2009, DOI: 10.1002/ajh.21447

  12. Prenatal Diagnosis of Disorders of Bone and Connective Tissue

    Genetic Disorders and the Fetus, Sixth Edition

    Andrea Superti-Furga, Sheila Unger, Pages: 680–704, 2010

    Published Online : 18 MAY 2010, DOI: 10.1002/9781444314342.ch22

  13. You have free access to this content
    Towards a better understanding and new therapeutics of osteopetrosis

    British Journal of Haematology

    Volume 140, Issue 6, March 2008, Pages: 597–609, Maria K. Askmyr, Anders Fasth and Johan Richter

    Article first published online : 1 FEB 2008, DOI: 10.1111/j.1365-2141.2008.06983.x

  14. Luteolin inhibition of V-ATPase a3d2 interaction decreases osteoclast resorptive activity

    Journal of Cellular Biochemistry

    Volume 114, Issue 4, April 2013, Pages: 929–941, Gazelle J. Crasto, Norbert Kartner, Yeqi Yao, Keying Li, Liv Bullock, Alessandro Datti and Morris F. Manolson

    Article first published online : 18 FEB 2013, DOI: 10.1002/jcb.24434

  15. Chapter 88. Sclerosing Bone Disorders

    Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism

    , Pages: 411–423, 2009

    Published Online : 23 DEC 2009, DOI: 10.1002/9780470623992.ch88

  16. You have free access to this content
    Advances in osteoclast biology reveal potential new drug targets and new roles for osteoclasts

    Journal of Bone and Mineral Research

    Volume 28, Issue 4, April 2013, Pages: 711–722, Brendan F Boyce

    Article first published online : 18 MAR 2013, DOI: 10.1002/jbmr.1885

  17. Clinical Correlate: CLCN7-Associated Autosomal Recessive Osteopetrosis

    Mineralized Tissues in Oral and Craniofacial Science

    Laurie K. McCauley, Martha J. Somerman, Pages: 35–42, 2013

    Published Online : 5 APR 2013, DOI: 10.1002/9781118704868.ch5

  18. Cell Biology and Physiology of CLC Chloride Channels and Transporters

    Standard Article

    Comprehensive Physiology

    Tobias Stauber, Stefanie Weinert and Thomas J. Jentsch

    Published Online : 1 JUL 2012, DOI: 10.1002/cphy.c110038

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    In Vitro Differentiation of CD14 Cells From Osteopetrotic Subjects: Contrasting Phenotypes With TCIRG1, CLCN7, and Attachment Defects

    Journal of Bone and Mineral Research

    Volume 19, Issue 8, August 2004, Pages: 1329–1338, Harry C Blair, Christopher W Borysenko, Anna Villa, Paul H Schlesinger, Sara E Kalla, Beatrice B Yaroslavskiy, Verónica García-Palacios, Jennifer I Oakley and Paul J Orchard

    Article first published online : 5 APR 2004, DOI: 10.1359/JBMR.040403

  20. You have free access to this content
    Mutations in OSTM1 (Grey Lethal) Define a Particularly Severe Form of Autosomal Recessive Osteopetrosis With Neural Involvement

    Journal of Bone and Mineral Research

    Volume 21, Issue 7, July 2006, Pages: 1098–1105, Alessandra Pangrazio, Pietro Luigi Poliani, André Megarbane, Gérard Lefranc, Edoardo Lanino, Maja Di Rocco, Francesca Rucci, Franco Lucchini, Maria Ravanini, Fabio Facchetti, Mario Abinun, Paolo Vezzoni, Anna Villa and Annalisa Frattini

    Article first published online : 8 MAY 2006, DOI: 10.1359/jbmr.060403