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There are 7827 results for: content related to: Prenatal diagnostic conundrum involving a novel ATP7A duplication

  1. Spectrum of ATP7B mutations and genotype–phenotype correlation in large-scale Chinese patients with Wilson Disease

    Clinical Genetics

    Volume 92, Issue 1, July 2017, Pages: 69–79, N. Cheng, H. Wang, W. Wu, R. Yang, L. Liu, Y. Han, L. Guo, J. Hu, L. Xu, J. Zhao, Y. Han, Q. Liu, K. Li, X. Wang and W. Chen

    Version of Record online : 16 FEB 2017, DOI: 10.1111/cge.12951

  2. Mutation analysis of genes within the dynactin complex in a cohort of hereditary peripheral neuropathies

    Clinical Genetics

    Volume 90, Issue 2, August 2016, Pages: 127–133, S. Tey, A. Ahmad-Annuar, A.P. Drew, N. Shahrizaila, G.A. Nicholson and M.L. Kennerson

    Version of Record online : 16 FEB 2016, DOI: 10.1111/cge.12712

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

    Traffic

    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

    Version of Record online : 18 FEB 2009, DOI: 10.1111/j.1600-0854.2009.00901.x

  4. X-linked spinal muscular atrophy in mice caused by autonomous loss of ATP7A in the motor neuron

    The Journal of Pathology

    Volume 236, Issue 2, June 2015, Pages: 241–250, Victoria L Hodgkinson, Jeffery M Dale, Michael L Garcia, Gary A Weisman, Jaekwon Lee, Jonathan D Gitlin and Michael J Petris

    Version of Record online : 3 MAR 2015, DOI: 10.1002/path.4511

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    Peptidylglycine α-amidating monooxygenase heterozygosity alters brain copper handling with region specificity

    Journal of Neurochemistry

    Volume 127, Issue 5, December 2013, Pages: 605–619, Eric D. Gaier, Megan B. Miller, Martina Ralle, Dipendra Aryal, William C. Wetsel, Richard E. Mains and Betty A. Eipper

    Version of Record online : 13 OCT 2013, DOI: 10.1111/jnc.12438

  6. Copper Metabolism, ATP7A and Menkes Disease

    Standard Article

    eLS

    Hannah Pierson, Svetlana Lutsenko and Zeynep Tümer

    Published Online : 16 NOV 2015, DOI: 10.1002/9780470015902.a0024278

  7. An Overview and Update of ATP7A Mutations Leading to Menkes Disease and Occipital Horn Syndrome

    Human Mutation

    Volume 34, Issue 3, March 2013, Pages: 417–429, Zeynep Tümer

    Version of Record online : 18 FEB 2013, DOI: 10.1002/humu.22266

  8. miR-495 Enhances the Sensitivity of Non-Small Cell Lung Cancer Cells to Platinum by Modulation of Copper-Transporting P-type Adenosine Triphosphatase A (ATP7A)

    Journal of Cellular Biochemistry

    Volume 115, Issue 7, July 2014, Pages: 1234–1242, Liqiang Song, Yan Li, Weina Li, Shouzhen Wu and Zhikui Li

    Version of Record online : 7 MAY 2014, DOI: 10.1002/jcb.24665

  9. ATP7A trafficking and mechanisms underlying the distal motor neuropathy induced by mutations in ATP7A

    Annals of the New York Academy of Sciences

    Volume 1314, Issue 1, May 2014, Pages: 49–54, Ling Yi and Stephen Kaler

    Version of Record online : 22 APR 2014, DOI: 10.1111/nyas.12427

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    DKWSLLL, a Versatile DXXXLL-Type Signal with Distinct Roles in the Cu+-Regulated Trafficking of ATP7B

    Traffic

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

    Version of Record online : 24 JUN 2014, DOI: 10.1111/tra.12176

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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

    Version of Record online : 29 JUL 2008, DOI: 10.1111/j.1469-7580.2008.00954.x

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    Altered microglial copper homeostasis in a mouse model of Alzheimer’s disease

    Journal of Neurochemistry

    Volume 114, Issue 6, September 2010, Pages: 1630–1638, Zhiqiang Zheng, Carine White, Jaekwon Lee, Troy S. Peterson, Ashley I. Bush, Grace Y. Sun, Gary A. Weisman and Michael J. Petris

    Version of Record online : 1 JUL 2010, DOI: 10.1111/j.1471-4159.2010.06888.x

  13. Recent advances in the genetics of distal hereditary motor neuropathy give insight to a disease mechanism involving copper homeostasis that may extend to other motor neuron disorders

    Clinical Genetics

    Volume 79, Issue 1, January 2011, Pages: 23–34, ND Merner, PA Dion and GA Rouleau

    Version of Record online : 9 DEC 2010, DOI: 10.1111/j.1399-0004.2010.01591.x

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    Effects of ATP7A overexpression in mice on copper transport and metabolism in lactation and gestation

    Physiological Reports

    Volume 2, Issue 1, January 2014, Jarrod Wadwa, Yu-Hsiang Chu, Nhu Nguyen, Thomas Henson, Alyssa Figueroa, Roxana Llanos, Margaret Leigh Ackland, Agnes Michalczyk, Hendrik Fullriede, Grant Brennan, Julian F. B. Mercer and Maria C. Linder

    Version of Record online : 13 JAN 2014, DOI: 10.1002/phy2.195

  15. Dynamics of the metal binding domains and regulation of the human copper transporters ATP7B and ATP7A

    IUBMB Life

    Volume 69, Issue 4, April 2017, Pages: 226–235, Corey H. Yu, Natalia V. Dolgova and Oleg Y. Dmitriev

    Version of Record online : 8 MAR 2017, DOI: 10.1002/iub.1611

  16. Favorably skewed X-inactivation accounts for neurological sparing in female carriers of Menkes disease

    Clinical Genetics

    Volume 79, Issue 2, February 2011, Pages: 176–182, V Desai, A Donsante, KJ Swoboda, M Martensen, J Thompson and SG Kaler

    Version of Record online : 19 APR 2010, DOI: 10.1111/j.1399-0004.2010.01451.x

  17. Genetics of human Bardet–Biedl syndrome, an updates

    Clinical Genetics

    Volume 90, Issue 1, July 2016, Pages: 3–15, S.A. Khan, N. Muhammad, M.A. Khan, A. Kamal, Z.U. Rehman and S. Khan

    Version of Record online : 9 FEB 2016, DOI: 10.1111/cge.12737

  18. Copper Transporting ATPases in Mammalian Cells

    Standard Article

    Encyclopedia of Inorganic and Bioinorganic Chemistry

    Nan Yang and Svetlana Lutsenko

    Published Online : 5 DEC 2013, DOI: 10.1002/9781119951438.eibc2144

  19. Mechanisms of charge transfer in human copper ATPases ATP7A and ATP7B

    IUBMB Life

    Volume 69, Issue 4, April 2017, Pages: 218–225, Francesco Tadini-Buoninsegni and Serena Smeazzetto

    Version of Record online : 5 FEB 2017, DOI: 10.1002/iub.1603

  20. Parents’ attitudes toward genetic testing of children for health conditions: A systematic review

    Clinical Genetics

    Q. Lim, B.C. McGill, V.F. Quinn, K.M. Tucker, D. Mizrahi, A.F. Patenaude, M. Warby, R.J. Cohn and C.E. Wakefield

    Version of Record online : 30 MAR 2017, DOI: 10.1111/cge.12989