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There are 6768319 results for: content related to: New topics in the skeletal dysplasias

  1. TRPV4-associated skeletal dysplasias

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics

    Volume 160C, Issue 3, 15 August 2012, Pages: 190–204, Gen Nishimura, Ekkehart Lausch, Ravi Savarirayan, Masahiro Shiba, Juergen Spranger, Bernhard Zabel, Shiro Ikegawa, Andrea Superti-Furga and Sheila Unger

    Article first published online : 12 JUL 2012, DOI: 10.1002/ajmg.c.31335

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    Calcium/calmodulin-signaling supports TRPV4 activation in osteoclasts and regulates bone mass

    Journal of Bone and Mineral Research

    Volume 27, Issue 8, August 2012, Pages: 1708–1721, Ritsuko Masuyama, Atsuko Mizuno, Hisato Komori, Hiroshi Kajiya, Atsushi Uekawa, Hideki Kitaura, Koji Okabe, Kaname Ohyama and Toshihisa Komori

    Article first published online : 17 JUL 2012, DOI: 10.1002/jbmr.1629

  3. Enchondromatosis revisited: New classification with molecular basis

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics

    Volume 160C, Issue 3, 15 August 2012, Pages: 154–164, Andrea Superti-Furga, Jürgen Spranger and Gen Nishimura

    Article first published online : 12 JUL 2012, DOI: 10.1002/ajmg.c.31331

  4. The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): A review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics

    Volume 160C, Issue 3, 15 August 2012, Pages: 217–229, Nuria Garcia Segarra, Laureane Mittaz, Ana Belinda Campos-Xavier, Cynthia F. Bartels, Beyhan Tuysuz, Yasemin Alanay, Rolando Cimaz, Valerie Cormier-Daire, Maja Di Rocco, Hans-Christoph Duba, Nursel H. Elcioglu, Francesca Forzano, Toni Hospach, Esra Kilic, Jasmin B. Kuemmerle-Deschner, Geert Mortier, Sonja Mrusek, Sheela Nampoothiri, Ewa Obersztyn, Richard M. Pauli, Angelo Selicorni, Romano Tenconi, Sheila Unger, G. Eda Utine, Michael Wright, Bernhard Zabel, Matthew L. Warman, Andrea Superti-Furga and PD Dr. Luisa Bonafé

    Article first published online : 12 JUL 2012, DOI: 10.1002/ajmg.c.31333

  5. Fetal akinesia in metatropic dysplasia: The combined phenotype of chondrodysplasia and neuropathy?

    American Journal of Medical Genetics Part A

    Volume 155, Issue 11, November 2011, Pages: 2860–2864, Sheila Unger, Ekkehart Lausch, Franco Stanzial, Gabriele Gillessen-Kaesbach, Irina Stefanova, Cristina Maria Di Stefano, Enrico Bertini, Carlo Dionisi-Vici, Bernd Nilius, Bernhard Zabel and Andrea Superti-Furga

    Article first published online : 30 SEP 2011, DOI: 10.1002/ajmg.a.34268

  6. TRPV4 in the sensory organs of adult zebrafish

    Microscopy Research and Technique

    Volume 75, Issue 1, January 2012, Pages: 89–96, V. Amato, E. Viña, M.G. Calavia, M.C. Guerrera, R. LaurÀ, M. Navarro, F. De Carlos, J. Cobo, A. Germanà and J.A. Vega

    Article first published online : 15 JUN 2011, DOI: 10.1002/jemt.21029

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    Activation of TRPV4 channel in pancreatic INS-1E beta cells enhances glucose-stimulated insulin secretion via calcium-dependent mechanisms

    FEBS Letters

    Volume 587, Issue 19, October 01, 2013, Pages: 3281–3287, M. Skrzypski, M. Kakkassery, S. Mergler, C. Grötzinger, N. Khajavi, M. Sassek, D. Szczepankiewicz, B. Wiedenmann, K.W. Nowak and M.Z. Strowski

    Article first published online : 30 AUG 2013, DOI: 10.1016/j.febslet.2013.08.025

  8. Functional interaction between AQP2 and TRPV4 in renal cells

    Journal of Cellular Biochemistry

    Volume 113, Issue 2, February 2012, Pages: 580–589, Luciano Galizia, Alejandro Pizzoni, Juan Fernandez, Valeria Rivarola, Claudia Capurro and Paula Ford

    Article first published online : 5 JAN 2012, DOI: 10.1002/jcb.23382

  9. TRPV4-pathy manifesting both skeletal dysplasia and peripheral neuropathy: A report of three patients

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 4, April 2012, Pages: 795–802, Tae-Joon Cho, Kazu Matsumoto, Virginia Fano, Jin Dai, Ok-Hwa Kim, Jong Hee Chae, Won Joon Yoo, Yuji Tanaka, Yoshito Matsui, Iori Takigami, Soledad Monges, Bernhard Zabel, Katsuji Shimizu, Gen Nishimura, Ekkehart Lausch and Shiro Ikegawa

    Article first published online : 14 MAR 2012, DOI: 10.1002/ajmg.a.35268

  10. Functional transient receptor potential vanilloid 1 and transient receptor potential vanilloid 4 channels along different segments of the renal vasculature

    Acta Physiologica

    Volume 213, Issue 2, February 2015, Pages: 481–491, L. Chen, M. Kaßmann, M. Sendeski, D. Tsvetkov, L. Marko, L. Michalick, M. Riehle, W. B. Liedtke, W. M. Kuebler, C. Harteneck, M. Tepel, A. Patzak and M. Gollasch

    Article first published online : 21 AUG 2014, DOI: 10.1111/apha.12355

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    Functional characterization of TRPV4 as an osmotically sensitive ion channel in porcine articular chondrocytes

    Arthritis & Rheumatism

    Volume 60, Issue 10, October 2009, Pages: 3028–3037, Mimi N. Phan, Holly A. Leddy, Bartholomew J. Votta, Sanjay Kumar, Dana S. Levy, David B. Lipshutz, Suk Hee Lee, Wolfgang Liedtke and Farshid Guilak

    Article first published online : 29 SEP 2009, DOI: 10.1002/art.24799

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    Mice Expressing Mutant Trpv4 Recapitulate the Human TRPV4 Disorders

    Journal of Bone and Mineral Research

    Volume 29, Issue 8, August 2014, Pages: 1815–1822, Michael M Weinstein, Stuart W Tompson, Yuqing Chen, Brendan Lee and Daniel H Cohn

    Article first published online : 21 JUL 2014, DOI: 10.1002/jbmr.2220

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    The puzzle of TRPV4 channelopathies

    EMBO reports

    Volume 14, Issue 2, February 2013, Pages: 152–163, Bernd Nilius and Thomas Voets

    Article first published online : 11 JAN 2013, DOI: 10.1038/embor.2012.219

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    Corrigendum: The puzzle of TRPV4 channelopathies

    Vol. 14, Issue 9, 845, Article first published online: 20 AUG 2013

  14. Striking phenotypic variability in familial TRPV4-axonal neuropathy spectrum disorder

    American Journal of Medical Genetics Part A

    Volume 155, Issue 12, December 2011, Pages: 3153–3156, Sharon Aharoni, Gaurav Harlalka, Amaka Offiah, Avinoam Shuper, Andrew H. Crosby and Meriel McEntagart

    Article first published online : 7 NOV 2011, DOI: 10.1002/ajmg.a.34327

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    Chondroprotective role of the osmotically sensitive ion channel transient receptor potential vanilloid 4: Age- and sex-dependent progression of osteoarthritis in Trpv4-deficient mice

    Arthritis & Rheumatism

    Volume 62, Issue 10, October 2010, Pages: 2973–2983, Andrea L. Clark, Bartholomew J. Votta, Sanjay Kumar, Wolfgang Liedtke and Farshid Guilak

    Article first published online : 25 JUN 2010, DOI: 10.1002/art.27624

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    Nociceptive and pro-inflammatory effects of dimethylallyl pyrophosphate via TRPV4 activation

    British Journal of Pharmacology

    Volume 166, Issue 4, June 2012, Pages: 1433–1443, S Bang, S Yoo, TJ Yang, H Cho and SW Hwang

    Article first published online : 17 MAY 2012, DOI: 10.1111/j.1476-5381.2012.01884.x

  17. Scientific Programme, 42nd Annual Meeting of the International Continence Society (ICS) 15 – 19 October 2012, Beijing, China

    Neurourology and Urodynamics

    Volume 31, Issue 6, August 2012, Pages: 709–1102,

    Article first published online : 10 JUL 2012, DOI: 10.1002/nau.22287

  18. Dominant TRPV4 mutations in nonlethal and lethal metatropic dysplasia

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 5, May 2010, Pages: 1169–1177, Natalia Camacho, Deborah Krakow, Sharlin Johnykutty, Philip J. Katzman, Samuel Pepkowitz, Joris Vriens, Bernd Nilius, Brendan F. Boyce and Daniel H. Cohn

    Article first published online : 22 APR 2010, DOI: 10.1002/ajmg.a.33392

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    Transient receptor potential vanilloid 4 (TRPV4)-dependent calcium influx and ATP release in mouse oesophageal keratinocytes

    The Journal of Physiology

    Volume 589, Issue 14, July 2011, Pages: 3471–3482, Hiroshi Mihara, Ammar Boudaka, Toshiro Sugiyama, Yoshinori Moriyama and Makoto Tominaga

    Article first published online : 15 JUL 2011, DOI: 10.1113/jphysiol.2011.207829

  20. Osteochondrodysplasias

    Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism, Eighth Edition

    Yasemin Alanay, David L. Rimoin, Pages: 794–804, 2013

    Published Online : 19 JUL 2013, DOI: 10.1002/9781118453926.ch95