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There are 43937 results for: content related to: A novel missense mutation in SCYL1BP1 produces geroderma osteodysplastica phenotype indistinguishable from that caused by nullimorphic mutations

  1. You have free access to this content
    A newly identified Pirh2 substrate SCYL1-BP1 can bind to MDM2 and accelerate MDM2 self-ubiquitination

    FEBS Letters

    Volume 584, Issue 15, August 04, 2010, Pages: 3275–3278, Jing Yan, Di Zhang, Yujun Di, Huili Shi, Hai Rao and Keke Huo

    Version of Record online : 23 JUN 2010, DOI: 10.1016/j.febslet.2010.06.027

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    Overexpression of SCYL1-BP1 stabilizes functional p53 by suppressing MDM2-mediated ubiquitination

    FEBS Letters

    Volume 584, Issue 20, October 22, 2010, Pages: 4319–4324, Jing Yan, Yujun Di, Huili Shi, Hai Rao and Keke Huo

    Version of Record online : 17 SEP 2010, DOI: 10.1016/j.febslet.2010.09.019

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    Membrane Trafficking in Osteoblasts and Osteoclasts: New Avenues for Understanding and Treating Skeletal Diseases


    Volume 13, Issue 10, October 2012, Pages: 1307–1314, Haibo Zhao

    Version of Record online : 24 JUL 2012, DOI: 10.1111/j.1600-0854.2012.01395.x

  4. Response to Kouwenberg et al. “Recognizable Phenotype With Common Occurrence of Microcephaly, Psychomotor Retardation, But No Spontaneous Bone Fractures in ARCL2B Due to PYCR1 Mutations”

    American Journal of Medical Genetics Part A

    Volume 155, Issue 9, September 2011, Pages: 2333–2334, Beyhan Tüysüz, Aslıhan Tolun and Yeşerin Yıldırım

    Version of Record online : 10 AUG 2011, DOI: 10.1002/ajmg.a.34151

  5. New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations

    Human Mutation

    Volume 32, Issue 4, April 2011, Pages: 445–455, Bert Callewaert, Marjolijn Renard, Vishwanathan Hucthagowder, Beate Albrecht, Ingrid Hausser, Edward Blair, Cristina Dias, Alice Albino, Hiroshi Wachi, Fumiaki Sato, Robert P. Mecham, Bart Loeys, Paul J. Coucke, Anne De Paepe and Zsolt Urban

    Version of Record online : 1 MAR 2011, DOI: 10.1002/humu.21462

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    Mutation in the Scyl1 gene encoding amino-terminal kinase-like protein causes a recessive form of spinocerebellar neurodegeneration

    EMBO reports

    Volume 8, Issue 7, July 2007, Pages: 691–697, Wolfgang M Schmidt, Cornelia Kraus, Harald Höger, Sonja Hochmeister, Felicitas Oberndorfer, Manuela Branka, Sonja Bingemann, Hans Lassmann, Markus Müller, Lúcia Inês Macedo-Souza, Mariz Vainzof, Mayana Zatz, André Reis and Reginald E Bittner

    Version of Record online : 15 JUN 2007, DOI: 10.1038/sj.embor.7401001

  7. De Barsy Syndrome: A genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 4, April 2012, Pages: 927–931, Stefania Zampatti, Marco Castori, Bjoern Fischer, Paola Ferrari, Livia Garavelli, Carlo Dionisi-Vici, Emanuele Agolini, Anita Wischmeijer, Eva Morava, Giuseppe Novelli, Johannes Häberle, Uwe Kornak and Francesco Brancati

    Version of Record online : 12 MAR 2012, DOI: 10.1002/ajmg.a.35231

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    Annexin A1 is associated with gastric cancer survival and promotes gastric cancer cell invasiveness through the formyl peptide receptor/extracellular signal-regulated kinase/integrin beta-1-binding protein 1 pathway


    Volume 118, Issue 23, 1 December 2012, Pages: 5757–5767, Tsu-Yao Cheng, Ming-Shiang Wu, Jaw-Town Lin, Ming-Tsan Lin, Chia-Tung Shun, Hsin-Yi Huang, Kuo-Tai Hua and Min-Liang Kuo

    Version of Record online : 26 JUN 2012, DOI: 10.1002/cncr.27565

  9. Small molecule β-amyloid inhibitors that stabilize protofibrillar structures in vitro improve cognition and pathology in a mouse model of Alzheimer’s disease

    European Journal of Neuroscience

    Volume 31, Issue 2, January 2010, Pages: 203–213, Cheryl A. Hawkes, Le-Hua Deng, James E. Shaw, Mark Nitz and JoAnne McLaurin

    Version of Record online : 13 JAN 2010, DOI: 10.1111/j.1460-9568.2009.07052.x

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    Genotype identification and genetic diversity of Sugarcane yellow leaf virus in China

    Plant Pathology

    Volume 61, Issue 5, October 2012, Pages: 986–993, M. Q. Wang, D. L. Xu, R. Li and G. H. Zhou

    Version of Record online : 31 JAN 2012, DOI: 10.1111/j.1365-3059.2012.02591.x

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    A genomic region encompassing a newly identified exon provides enhancing activity sufficient for normal myo7aa expression in zebrafish sensory hair cells

    Developmental Neurobiology

    Volume 75, Issue 9, September 2015, Pages: 961–983, Sylvain Ernest and Frédéric M. Rosa

    Version of Record online : 19 JAN 2015, DOI: 10.1002/dneu.22263

  12. scyllo-Inositol Pentakisphosphate as an Analogue of myo-Inositol 1,3,4,5,6-Pentakisphosphate: Chemical Synthesis, Physicochemistry and Biological Applications


    Volume 7, Issue 7, July 3, 2006, Pages: 1114–1122, Andrew M. Riley, Melanie Trusselle, Paul Kuad, Michal Borkovec, Jaiesoon Cho, Jae H. Choi, Xun Qian, Stephen B. Shears, Bernard Spiess and Barry V. L. Potter

    Version of Record online : 6 JUN 2006, DOI: 10.1002/cbic.200600037

  13. Die “anderen” Inositole und ihre Phosphate: Synthese, Biologie und Medizin (sowie jüngste Fortschritte in der myo-Inositolchemie)

    Angewandte Chemie

    Volume 128, Issue 5, January 26, 2016, Pages: 1644–1683, Dr. Mark P. Thomas, Dr. Stephen J. Mills and Prof. Dr. Barry V. L. Potter

    Version of Record online : 22 DEC 2015, DOI: 10.1002/ange.201502227

  14. Regulation of NF-κB by deubiquitinases

    Immunological Reviews

    Volume 246, Issue 1, March 2012, Pages: 107–124, Edward W. Harhaj and Vishva M. Dixit

    Version of Record online : 21 MAR 2012, DOI: 10.1111/j.1600-065X.2012.01100.x

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    2015 ACR/ARHP Annual Meeting Abstract Supplement

    Arthritis & Rheumatology

    Volume 67, Issue S10, October 2015, Pages: 1–4046,

    Version of Record online : 5 NOV 2015, DOI: 10.1002/art.39448

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    Essential role for TAX1BP1 in the termination of TNF-α-, IL-1- and LPS-mediated NF-κB and JNK signaling

    The EMBO Journal

    Volume 26, Issue 17, September 5, 2007, Pages: 3910–3922, Noula Shembade, Nicole S Harhaj, Daniel J Liebl and Edward W Harhaj

    Version of Record online : 16 AUG 2007, DOI: 10.1038/sj.emboj.7601823

  17. Expression, purification and crystallization of the SKICH domain of human TAX1BP1

    Acta Crystallographica Section F

    Volume 70, Issue 5, May 2014, Pages: 619–623, Yang Yang, Guan Wang, Xiaolan Huang and Zhihua Du

    DOI: 10.1107/S2053230X14006396

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    Inflammatory cardiac valvulitis in TAX1BP1-deficient mice through selective NF-κB activation

    The EMBO Journal

    Volume 27, Issue 4, February 20, 2008, Pages: 629–641, Hidekatsu Iha, Jean-Marie Peloponese, Lynn Verstrepen, Grzegorz Zapart, Fumiyo Ikeda, C Dahlem Smith, Matthew F Starost, Venkat Yedavalli, Karen Heyninck, Ivan Dikic, Rudi Beyaert and Kuan-Teh Jeang

    Version of Record online : 31 JAN 2008, DOI: 10.1038/emboj.2008.5

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    The centrosomal protein tax1 binding protein 2 is a novel tumor suppressor in hepatocellular carcinoma regulated by cyclin-dependent kinase 2


    Volume 56, Issue 5, November 2012, Pages: 1770–1781, Wai-Lung Lai, Wing-Yan Hung, Leo Lap-Yan Wong, Yuan Zhou, Veronica Yee-Law Leong, Joyce Man-Fong Lee, Irene Oi-Lin Ng, Dong-Yan Jin and Yick-Pang Ching

    Version of Record online : 17 SEP 2012, DOI: 10.1002/hep.25851

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    The phenotype caused by PYCR1 mutations corresponds to geroderma osteodysplasticum rather than autosomal recessive cutis laxa type 2

    American Journal of Medical Genetics Part A

    Volume 155, Issue 1, January 2011, Pages: 134–140, Yeşerin Yıldırım, Aslıhan Tolun and Beyhan Tüysüz

    Version of Record online : 9 DEC 2010, DOI: 10.1002/ajmg.a.33747