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There are 6967 results for: content related to: The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot–Marie–Tooth disease type 4

  1. Genetics of the Charcot-Marie-Tooth disease in the Spanish Gypsy population: the hereditary motor and sensory neuropathy-Russe in depth

    Clinical Genetics

    Volume 83, Issue 6, June 2013, Pages: 565–570, T Sevilla, D Martínez-Rubio, C Márquez, C Paradas, J Colomer, T Jaijo, JM Millán, F Palau and C Espinós

    Version of Record online : 10 OCT 2012, DOI: 10.1111/cge.12015

  2. Three-way translocation (X;20;16)(p11;q13;q23) in essential thrombocythemia implicates NFATC2 in dysregulation of CSF2 expression and megakaryocyte proliferation

    Genes, Chromosomes and Cancer

    Volume 51, Issue 12, December 2012, Pages: 1093–1108, Luís Vieira, Andreia Vaz, Paulo Matos, Ana Paula Ambrósio, Manuel Nogueira, Bárbara Marques, Ana Marques Pereira, Peter Jordan and Maria Gomes da Silva

    Version of Record online : 22 AUG 2012, DOI: 10.1002/gcc.21994

  3. High frequency of SH3TC2 mutations in Czech HMSN I patients

    Clinical Genetics

    Volume 80, Issue 4, October 2011, Pages: 334–345, P Laššuthová, R Mazanec, P Vondráček, D Šišková, J Haberlová, J Sabová and P Seeman

    Version of Record online : 1 MAR 2011, DOI: 10.1111/j.1399-0004.2011.01640.x

  4. Regulation of ascorbate biosynthesis in green algae has evolved to enable rapid stress-induced response via the VTC2 gene encoding GDP-l-galactose phosphorylase

    New Phytologist

    Volume 214, Issue 2, April 2017, Pages: 668–681, André Vidal-Meireles, Juliane Neupert, Laura Zsigmond, Laise Rosado-Souza, László Kovács, Valéria Nagy, Anikó Galambos, Alisdair R. Fernie, Ralph Bock and Szilvia Z. Tóth

    Version of Record online : 23 JAN 2017, DOI: 10.1111/nph.14425

  5. Activation Of Nfatc2 in osteoblasts causes osteopenia

    Journal of Cellular Physiology

    Volume 230, Issue 7, July 2015, Pages: 1689–1695, Stefano Zanotti and Ernesto Canalis

    Version of Record online : 27 MAR 2015, DOI: 10.1002/jcp.24928

  6. Screening for SH3TC2 gene mutations in a series of demyelinating recessive Charcot-Marie-Tooth disease (CMT4)

    Journal of the Peripheral Nervous System

    Volume 21, Issue 3, September 2016, Pages: 142–149, Giuseppe Piscosquito, Paola Saveri, Stefania Magri, Claudia Ciano, Claudia Gandioli, Michela Morbin, Daniela D. Bella, Isabella Moroni, Franco Taroni and Davide Pareyson

    Version of Record online : 4 SEP 2016, DOI: 10.1111/jns.12175

  7. Sox4 participates in the modulation of Schwann cell myelination

    European Journal of Neuroscience

    Volume 42, Issue 2, July 2015, Pages: 1788–1796, Luca Bartesaghi, Estelle Arnaud Gouttenoire, Andrea Prunotto, Jean-Jacques Médard, Sven Bergmann and Roman Chrast

    Version of Record online : 19 MAY 2015, DOI: 10.1111/ejn.12929

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    Two genes in Arabidopsis thaliana encoding GDP-l-galactose phosphorylase are required for ascorbate biosynthesis and seedling viability

    The Plant Journal

    Volume 52, Issue 4, November 2007, Pages: 673–689, John Dowdle, Takahiro Ishikawa, Stephan Gatzek, Susanne Rolinski and Nicholas Smirnoff

    Version of Record online : 18 SEP 2007, DOI: 10.1111/j.1365-313X.2007.03266.x

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    Clinicopathological significance of stanniocalcin 2 gene expression in colorectal cancer

    International Journal of Cancer

    Volume 125, Issue 4, 15 August 2009, Pages: 926–931, Keisuke Ieta, Fumiaki Tanaka, Takehiko Yokobori, Yoshiaki Kita, Naotsugu Haraguchi, Koshi Mimori, Hiroyuki Kato, Takayuki Asao, Hiroshi Inoue, Hiroyuki Kuwano and Masaki Mori

    Version of Record online : 25 MAR 2009, DOI: 10.1002/ijc.24453

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    Genetic interactions between protein phosphatases CaPtc2p and CaPph3p in response to genotoxins and rapamycin in Candida albicans

    FEMS Yeast Research

    Volume 13, Issue 1, February 2013, Pages: 85–96, Jinrong Feng, Yunying Zhao, Yinong Duan and Linghuo Jiang

    Version of Record online : 19 NOV 2012, DOI: 10.1111/1567-1364.12012

  11. Sh3tc2 deficiency affects neuregulin-1/ErbB signaling

    Glia

    Volume 61, Issue 7, July 2013, Pages: 1041–1051, Estelle Arnaud Gouttenoire, Vincenzo Lupo, Eduardo Calpena, Luca Bartesaghi, Fanny Schüpfer, Jean-Jacques Médard, Fabienne Maurer, Jacques S. Beckmann, Jan Senderek, Francesc Palau, Carmen Espinós and Roman Chrast

    Version of Record online : 2 APR 2013, DOI: 10.1002/glia.22493

  12. Charcot-marie-tooth disease type 4C in Japan: Report of a case

    Muscle & Nerve

    Volume 47, Issue 2, February 2013, Pages: 283–286, Masahiro Iguchi, Akihiro Hashiguchi, Eiichi Ito, Kunio Toda, Mari Urano, Yuko Shimizu, Chisen Takeuchi, Kayoko Saito, Hiroshi Takashima and Shinichiro Uchiyama

    Version of Record online : 28 DEC 2012, DOI: 10.1002/mus.23540

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    Effects of deletion of different PP2C protein phosphatase genes on stress responses in Saccharomyces cerevisiae

    Yeast

    Volume 31, Issue 10, October 2014, Pages: 393–409, Dilruba Sharmin, Yu Sasano, Minetaka Sugiyama and Satoshi Harashima

    Version of Record online : 3 SEP 2014, DOI: 10.1002/yea.3032

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    Functional characterization of the PP2C phosphatase CaPtc2p in the human fungal pathogen Candida albicans

    Yeast

    Volume 27, Issue 9, September 2010, Pages: 753–764, Jinrong Feng, Jingwen Zhao, Jing Li, Lilin Zhang and Linghuo Jiang

    Version of Record online : 26 APR 2010, DOI: 10.1002/yea.1778

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    Nfatc2 is a primary response gene of nell-1 regulating chondrogenesis in ATDC5 cells

    Journal of Bone and Mineral Research

    Volume 26, Issue 6, June 2011, Pages: 1230–1241, Weiwei Chen, Xinli Zhang, Ronald K Siu, Feng Chen, Jia Shen, Janette N Zara, Cymbeline T Culiat, Sotirios Tetradis, Kang Ting and Chia Soo

    Version of Record online : 24 MAY 2011, DOI: 10.1002/jbmr.314

  16. Phenotypic variability of CMT4C in a French-Canadian kindred

    Muscle & Nerve

    Volume 52, Issue 3, September 2015, Pages: 444–449, Talia L. Varley, Pierre R. Bourque and Steven K. Baker

    Version of Record online : 14 MAY 2015, DOI: 10.1002/mus.24640

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    The tatC gene cluster is essential for viability in halophilic archaea

    FEMS Microbiology Letters

    Volume 256, Issue 1, March 2006, Pages: 44–49, Judith R. Thomas and Albert Bolhuis

    Version of Record online : 23 JAN 2006, DOI: 10.1111/j.1574-6968.2006.00107.x

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    Decreased expression of ABAT and STC2 hallmarks ER-positive inflammatory breast cancer and endocrine therapy resistance in advanced disease

    Molecular Oncology

    Volume 9, Issue 6, June 2015, Pages: 1218–1233, Maurice P.H.M. Jansen, Leen Sas, Anieta M. Sieuwerts, Caroline Van Cauwenberghe, Diana Ramirez-Ardila, Maxime Look, Kirsten Ruigrok-Ritstier, Pascal Finetti, François Bertucci, Mieke M. Timmermans, Carolien H.M. van Deurzen, John W.M. Martens, Iris Simon, Paul Roepman, Sabine C. Linn, Peter van Dam, Marleen Kok, Filip Lardon, Peter B. Vermeulen, John A. Foekens, Luc Dirix, Els M.J.J. Berns, Steven Van Laere

    Version of Record online : 4 MAR 2015, DOI: 10.1016/j.molonc.2015.02.006

  19. 2015 Peripheral Nerve Society Biennial Meeting

    Journal of the Peripheral Nervous System

    Volume 20, Issue 2, June 2015, Pages: 88–253,

    Version of Record online : 21 AUG 2015, DOI: 10.1111/jns.12129

  20. Novel mutations in SH3TC2 in a young Japanese girl with Charcot-Marie-Tooth disease type 4C

    Pediatrics International

    Volume 58, Issue 11, November 2016, Pages: 1252–1254, Kazushi Ichikawa, Keita Numasawa, Saoko Takeshita, Akihiro Hashiguchi and Hiroshi Takashima

    Version of Record online : 23 NOV 2016, DOI: 10.1111/ped.13152