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There are 109844 results for: content related to: Multiple genomic aberrations in a patient with mental retardation and hypogonadism: 45,X/46,X,psu dic(Y) karyotype, thyroid hormone receptor beta ( THRB ) mutation and heterozygosity for Wilson disease

  1. You have free access to this content
    DKWSLLL, a Versatile DXXXLL-Type Signal with Distinct Roles in the Cu+-Regulated Trafficking of ATP7B


    Volume 15, Issue 8, August 2014, Pages: 839–860, Vasiliki Lalioti, Sonia Hernandez-Tiedra and Ignacio V. Sandoval

    Article first published online : 24 JUN 2014, DOI: 10.1111/tra.12176

  2. Copper incorporation into ceruloplasmin is regulated by Niemann–Pick C1 protein

    Hepatology Research

    Volume 41, Issue 5, May 2011, Pages: 484–491, Chikatoshi Yanagimoto, Masaru Harada, Hiroto Kumemura, Mitsuhiko Abe, Hironori Koga, Masahiro Sakata, Takumi Kawaguchi, Kunihiko Terada, Shinichiro Hanada, Eitaro Taniguchi, Haruaki Ninomiya, Takato Ueno, Toshihiro Sugiyama and Michio Sata

    Article first published online : 26 APR 2011, DOI: 10.1111/j.1872-034X.2011.00788.x

  3. Evidence for a critical role of ceruloplasmin oxidase activity in iron metabolism of Wilson disease gene knockout mice

    Journal of Gastroenterology and Hepatology

    Volume 25, Issue 6, June 2010, Pages: 1144–1150, Uta Merle, Sabine Tuma, Thomas Herrmann, Valer Muntean, Martin Volkmann, Sven G. Gehrke and Wolfgang Stremmel

    Article first published online : 5 NOV 2009, DOI: 10.1111/j.1440-1746.2009.06173.x

  4. You have full text access to this OnlineOpen article
    Copper Directs ATP7B to the Apical Domain of Hepatic Cells via Basolateral Endosomes


    Volume 15, Issue 12, December 2014, Pages: 1344–1365, Lydia K. Nyasae, Michael J. Schell and Ann L. Hubbard

    Article first published online : 27 OCT 2014, DOI: 10.1111/tra.12229

    Corrected by:

    Corrigendum: Copper Directs ATP7B to the Apical Domain of Hepatic Cells via Basolateral Endosomes

    Vol. 16, Issue 1, 99, Article first published online: 22 DEC 2014

  5. Sequence variation in the ATP-binding domain of the Wilson disease transporter, ATP7B, affects copper transport in a yeast model system

    Human Mutation

    Volume 29, Issue 4, April 2008, Pages: 491–501, Gloria Hsi, Lara M. Cullen, Georgina Macintyre, Matthew M. Chen, D. Moira Glerum and Diane W. Cox

    Article first published online : 17 JAN 2008, DOI: 10.1002/humu.20674

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    Reduced expression of ATP7B affected by Wilson disease–causing mutations is rescued by pharmacological folding chaperones 4-phenylbutyrate and curcumin


    Volume 50, Issue 6, December 2009, Pages: 1783–1795, Peter V. E. van den Berghe, Janneke M. Stapelbroek, Elmar Krieger, Prim de Bie, Stan F. J. van de Graaf, Reinoud E. A. de Groot, Ellen van Beurden, Ellen Spijker, Roderick H. J. Houwen, Ruud Berger and Leo W. J. Klomp

    Article first published online : 5 AUG 2009, DOI: 10.1002/hep.23209

  7. Identification of novel ATP7B gene mutations and their functional roles in Korean patients with Wilson disease

    Human Mutation

    Volume 28, Issue 11, November 2007, Pages: 1108–1113, Sangwook Park, Jung-Young Park, Gu-Hwan Kim, Jin-Ho Choi, Kyung-Mo Kim, Jong-Bae Kim and Han-Wook Yoo

    Article first published online : 22 JUN 2007, DOI: 10.1002/humu.20574

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    Localization of the Wilson disease protein in murine intestine

    Journal of Anatomy

    Volume 213, Issue 3, September 2008, Pages: 232–240, Karl Heinz Weiss, Judith Wurz, Daniel Gotthardt, Uta Merle, Wolfgang Stremmel and Joachim Füllekrug

    Article first published online : 29 JUL 2008, DOI: 10.1111/j.1469-7580.2008.00954.x

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    Wilson disease: Novel mutations in the ATP7B gene and clinical correlation in Brazilian patients

    Human Mutation

    Volume 23, Issue 4, April 2004, Page: 398, Marta M. Deguti, Janine Genschel, Eduardo L.R. Cancado, Egberto R. Barbosa, Bettina Bochow, Marcos Mucenic, Gilda Porta, Herbert Lochs, Flair J. Carrilho and Hartmut H.-J. Schmidt

    Article first published online : 9 MAR 2004, DOI: 10.1002/humu.9227

  10. Pathogenesis and management of Wilson disease

    Hepatology Research

    Volume 44, Issue 4, April 2014, Pages: 395–402, Masaru Harada

    Article first published online : 6 MAR 2014, DOI: 10.1111/hepr.12301

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    Cell-Specific Trafficking Suggests a new role for Renal ATP7B in the Intracellular Copper Storage


    Volume 10, Issue 6, June 2009, Pages: 767–779, Natalie Barnes, Mee Y. Bartee, Lita Braiterman, Arnab Gupta, Vladimir Ustiyan, Vesna Zuzel, Jack H. Kaplan, Ann L. Hubbard and Svetlana Lutsenko

    Article first published online : 18 FEB 2009, DOI: 10.1111/j.1600-0854.2009.00901.x

  12. Molecular genetics of intracellular copper transport

    The Journal of Trace Elements in Experimental Medicine

    Volume 12, Issue 4, 1999, Pages: 297–313, Nina Horn and Zeynep Tümer

    Article first published online : 19 NOV 1999, DOI: 10.1002/(SICI)1520-670X(1999)12:4<297::AID-JTRA3>3.0.CO;2-E

  13. Hypoceruloplasminemia-related movement disorder without Kayser-Fleischer rings is different from Wilson disease and not involved in ATP7B mutation

    European Journal of Neurology

    Volume 16, Issue 10, October 2009, Pages: 1130–1137, J. Lirong, J. Jianjun, Z. Hua, F. Guoqiang, Z. Yuhao, P. Xiaoli, Z. Xiaomin, Z. Yuwen, M. Yu, C. Jie, D. Jihong, M. Yueshi, M. Zhenyao and Z. Chunjiu

    Article first published online : 30 JUN 2009, DOI: 10.1111/j.1468-1331.2009.02733.x

  14. Mutation analysis of Wilson disease in the Spanish population – identification of a prevalent substitution and eight novel mutations in the ATP7B gene

    Clinical Genetics

    Volume 68, Issue 1, July 2005, Pages: 61–68, E Margarit, V Bach, D Gómez, M Bruguera, P Jara, R Queralt and F Ballesta

    Article first published online : 31 MAR 2005, DOI: 10.1111/j.1399-0004.2005.00439.x

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    Wilson Disease Mutation Pattern with Genotype-Phenotype Correlations from Western India: Confirmation of p.C271* as a Common Indian Mutation and Identification of 14 Novel Mutations

    Annals of Human Genetics

    Volume 77, Issue 4, July 2013, Pages: 299–307, Annu Aggarwal, Gursimran Chandhok, Theodor Todorov, Saloni Parekh, Sharada Tilve, Andree Zibert, Mohit Bhatt and Hartmut H.-J. Schmidt

    Article first published online : 2 APR 2013, DOI: 10.1111/ahg.12024

  16. Relative exchangeable copper: A promising tool for family screening in Wilson disease

    Movement Disorders

    Volume 29, Issue 4, April 2014, Pages: 558–562, Jean-Marc Trocello, Souleiman El Balkhi, France Woimant, Nadège Girardot-Tinant, Philippe Chappuis, Carla Lloyd and Joël Poupon

    Article first published online : 27 DEC 2013, DOI: 10.1002/mds.25763

  17. A new hepatocytic isoform of PLZF lacking the BTB domain interacts with ATP7B, the Wilson disease protein, and positively regulates ERK signal transduction

    Journal of Cellular Biochemistry

    Volume 99, Issue 3, 15 October 2006, Pages: 719–734, Jung Ho Ko, Wonseok Son, Gab Yong Bae, Joo Hyun Kang, Wonjun Oh and Ook Joon Yoo

    Article first published online : 4 MAY 2006, DOI: 10.1002/jcb.20980

  18. Genetic variation in the promoter and 5′ UTR of the copper transporter, ATP7B, in patients with Wilson disease

    Clinical Genetics

    Volume 64, Issue 5, November 2003, Pages: 429–432, LM Cullen, L Prat and DW Cox

    Article first published online : 21 OCT 2003, DOI: 10.1034/j.1399-0004.2003.00160.x

  19. Genotyping microarray as a novel approach for the detection of ATP7B gene mutations in patients with Wilson disease

    Clinical Genetics

    Volume 73, Issue 5, May 2008, Pages: 441–452, L Gojová, E Jansová, M Külm, S Pouchlá and L Kozák

    Article first published online : 25 MAR 2008, DOI: 10.1111/j.1399-0004.2008.00989.x

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    EGFP Tags Affect Cellular Localization of ATP7B Mutants

    CNS Neuroscience & Therapeutics

    Volume 19, Issue 5, May 2013, Pages: 346–351, Min Zhu, Wang Ni, Yi Dong and Zhi-Ying Wu

    Article first published online : 22 APR 2013, DOI: 10.1111/cns.12091