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There are 50882 results for: content related to: Mutations in EXPH 5 result in autosomal recessive inherited skin fragility

  1. A novel homozygous deletion in EXPH5 causes a skin fragility phenotype

    Clinical and Experimental Dermatology

    Volume 41, Issue 8, December 2016, Pages: 915–918, N. Malchin, O. Sarig, M. Grafi-Cohen, S. Geller, I. Goldberg, A. Shani, A Gat, E. Sprecher and J. Mashiah

    Version of Record online : 11 OCT 2016, DOI: 10.1111/ced.12908

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    Rab27 Effectors, Pleiotropic Regulators in Secretory Pathways

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    Volume 14, Issue 9, September 2013, Pages: 949–963, Mitsunori Fukuda

    Version of Record online : 10 JUN 2013, DOI: 10.1111/tra.12083

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    Melanophilin directly links Rab27a and myosin Va through its distinct coiled-coil regions

    FEBS Letters

    Volume 517, Issue 1-3, April 24, 2002, Pages: 233–238, Kazuaki Nagashima, Seiji Torii, Zhaohong Yi, Michihiro Igarashi, Koichi Okamoto, Toshiyuki Takeuchi and Tetsuro Izumi

    Version of Record online : 5 APR 2002, DOI: 10.1016/S0014-5793(02)02634-0

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    Rab27a Targeting to Melanosomes Requires Nucleotide Exchange but Not Effector Binding

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    Volume 12, Issue 8, August 2011, Pages: 1056–1066, Abul K. Tarafder, Christina Wasmeier, Ana C. Figueiredo, Antonia E. G. Booth, Asumi Orihara, Jose S. Ramalho, Alistair N. Hume and Miguel C. Seabra

    Version of Record online : 15 JUN 2011, DOI: 10.1111/j.1600-0854.2011.01216.x

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    Rab27a and Rab27b are involved in stimulation-dependent RANKL release from secretory lysosomes in osteoblastic cells

    Journal of Bone and Mineral Research

    Volume 26, Issue 4, April 2011, Pages: 689–703, Yoshiaki Kariya, Masashi Honma, Akiko Hanamura, Shigeki Aoki, Tadashi Ninomiya, Yuko Nakamichi, Nobuyuki Udagawa and Hiroshi Suzuki

    Version of Record online : 23 MAR 2011, DOI: 10.1002/jbmr.268

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    Rab27a and Rab27b Regulate Neutrophil Azurophilic Granule Exocytosis and NADPH oxidase Activity by Independent Mechanisms

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    Volume 11, Issue 4, April 2010, Pages: 533–547, Jennifer L. Johnson, Agnieszka A. Brzezinska, Tanya Tolmachova, Daniela B. Munafo, Beverly A. Ellis, Miguel C. Seabra, Hong Hong and Sergio D. Catz

    Version of Record online : 17 DEC 2009, DOI: 10.1111/j.1600-0854.2009.01029.x

  7. Mutations in EXPH5 underlie a rare subtype of autosomal recessive epidermolysis bullosa simplex

    British Journal of Dermatology

    Volume 174, Issue 2, February 2016, Pages: 452–453, E. Rashidghamat, L. Ozoemena, L. Liu, J.A. McGrath, A.E. Martinez and J.E. Mellerio

    Version of Record online : 17 NOV 2015, DOI: 10.1111/bjd.14047

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    Myosin Va Acts in Concert with Rab27a and MyRIP to Regulate Acute Von-Willebrand Factor Release from Endothelial Cells

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    Volume 12, Issue 10, October 2011, Pages: 1371–1382, Inés Rojo Pulido, Thomas D. Nightingale, François Darchen, Miguel C. Seabra, Daniel F. Cutler and Volker Gerke

    Version of Record online : 5 AUG 2011, DOI: 10.1111/j.1600-0854.2011.01248.x

  9. Redistribution of small GTP-binding protein, Rab27B, in rat parotid acinar cells after stimulation with isoproterenol

    European Journal of Oral Sciences

    Volume 117, Issue 3, June 2009, Pages: 224–230, Akane Imai, Sumio Yoshie, Tomoko Nashida, Mitsunori Fukuda and Hiromi Shimomura

    Version of Record online : 6 MAY 2009, DOI: 10.1111/j.1600-0722.2009.00618.x

  10. Molecular mechanisms regulating secretory organelles and endosomes in neutrophils and their implications for inflammation

    Immunological Reviews

    Volume 273, Issue 1, September 2016, Pages: 249–265, Mahalakshmi Ramadass and Sergio D Catz

    Version of Record online : 25 AUG 2016, DOI: 10.1111/imr.12452

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    Distinct and opposing roles for Rab27a/Mlph/MyoVa and Rab27b/Munc13-4 in mast cell secretion

    The FEBS Journal

    Volume 280, Issue 3, February 2013, Pages: 892–903, Rajesh K. Singh, Koichi Mizuno, Christina Wasmeier, Silene T. Wavre-Shapton, Chiara Recchi, Sergio D. Catz, Clare Futter, Tanya Tolmachova, Alistair N. Hume and Miguel C. Seabra

    Version of Record online : 2 JAN 2013, DOI: 10.1111/febs.12081

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    Kinetics of Rab27a-dependent actions on vesicle docking and priming in pancreatic β-cells

    The Journal of Physiology

    Volume 586, Issue 22, November 2008, Pages: 5367–5381, Matthew J. Merrins and Edward L. Stuenkel

    Version of Record online : 19 NOV 2008, DOI: 10.1113/jphysiol.2008.158477

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    Griscelli syndrome: a model system to study vesicular trafficking

    Pigment Cell & Melanoma Research

    Volume 22, Issue 3, June 2009, Pages: 268–282, Mireille Van Gele, Peter Dynoodt and Jo Lambert

    Version of Record online : 25 FEB 2009, DOI: 10.1111/j.1755-148X.2009.00558.x

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    Slp1 and Slp2-a Localize to the Plasma Membrane of CTL and Contribute to Secretion from the Immunological Synapse

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    Volume 9, Issue 4, April 2008, Pages: 446–457, Oliver Holt, Eiko Kanno, Giovanna Bossi, Sarah Booth, Tiziana Daniele, Alessandra Santoro, Maurizio Arico, Chika Saegusa, Mitsunori Fukuda and Gillian M. Griffiths

    Version of Record online : 11 FEB 2008, DOI: 10.1111/j.1600-0854.2008.00714.x

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    Distinct Actions of Rab3 and Rab27 GTPases on Late Stages of Exocytosis of Insulin

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    Volume 15, Issue 9, September 2014, Pages: 997–1015, Victor A. Cazares, Arasakumar Subramani, Johnny J. Saldate, Widmann Hoerauf and Edward L. Stuenkel

    Version of Record online : 26 JUN 2014, DOI: 10.1111/tra.12182

  16. Further evidence for genotype–phenotype disparity in Griscelli syndrome

    British Journal of Dermatology

    Volume 176, Issue 4, April 2017, Pages: 1086–1089, J.Y.W. Lee, M.S. Eldeeb, C.-K. Hsu, R. Saito, S.A. Abouzeid and J.A. McGrath

    Version of Record online : 7 FEB 2017, DOI: 10.1111/bjd.14866

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    The Rab27a Effectors JFC1/Slp1 and Munc13-4 Regulate Exocytosis of Neutrophil Granules

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    Volume 9, Issue 12, December 2008, Pages: 2151–2164, Agnieszka A. Brzezinska, Jennifer L. Johnson, Daniela B. Munafo, Karine Crozat, Bruce Beutler, William B. Kiosses, Beverly A. Ellis and Sergio D. Catz

    Version of Record online : 7 OCT 2008, DOI: 10.1111/j.1600-0854.2008.00838.x

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    In vitro reconstitution of a transport complex containing Rab27a, melanophilin and myosin Va

    FEBS Letters

    Volume 580, Issue 25, October 30, 2006, Pages: 5863–5868, Xufeng Wu, Take Sakamoto, Fang Zhang, James R. Sellers and John A. Hammer

    Version of Record online : 2 OCT 2006, DOI: 10.1016/j.febslet.2006.09.047

  19. Founder mutation in dystonin-e underlying autosomal recessive epidermolysis bullosa simplex in Kuwait

    British Journal of Dermatology

    Volume 172, Issue 2, February 2015, Pages: 527–531, T. Takeichi, A. Nanda, L. Liu, S. Aristodemou, J.R. McMillan, K. Sugiura, M. Akiyama, H. Al-Ajmi, M.A. Simpson and J.A. McGrath

    Version of Record online : 30 DEC 2014, DOI: 10.1111/bjd.13294

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    The Ternary Rab27a–Myrip–Myosin VIIa Complex Regulates Melanosome Motility in the Retinal Pigment Epithelium

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    Volume 8, Issue 5, May 2007, Pages: 486–499, Vanda S. Lopes, José S. Ramalho, Dylan M. Owen, Mike O. Karl, Olaf Strauss, Clare E. Futter and Miguel C. Seabra

    Version of Record online : 26 MAR 2007, DOI: 10.1111/j.1600-0854.2007.00548.x