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There are 6617 results for: content related to: A de novo missense mutation in the gene encoding the SOX10 transcription factor in a Spanish sporadic case of Waardenburg syndrome type IV

  1. Identification and functional analysis of SOX10 missense mutations in different subtypes of waardenburg syndrome

    Human Mutation

    Volume 32, Issue 12, December 2011, Pages: 1436–1449, Asma Chaoui, Yuli Watanabe, Renaud Touraine, Viviane Baral, Michel Goossens, Veronique Pingault and Nadege Bondurand

    Article first published online : 19 SEP 2011, DOI: 10.1002/humu.21583

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    Sox proteins in melanocyte development and melanoma

    Pigment Cell & Melanoma Research

    Volume 23, Issue 4, August 2010, Pages: 496–513, Melissa L. Harris, Laura L. Baxter, Stacie K. Loftus and William J. Pavan

    Article first published online : 22 APR 2010, DOI: 10.1111/j.1755-148X.2010.00711.x

  3. Analysis of SOX10 mutations identified in Waardenburg-Hirschsprung patients: Differential effects on target gene regulation

    Journal of Cellular Biochemistry

    Volume 90, Issue 3, 15 October 2003, Pages: 573–585, Kwok Keung Chan, Corinne Kung Yen Wong, Vincent Chi Hang Lui, Paul Kwong Hang Tam and Mai Har Sham

    Article first published online : 17 SEP 2003, DOI: 10.1002/jcb.10656

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    SOX10, in combination with Sp1, regulates the endothelin receptor type B gene in human melanocyte lineage cells

    FEBS Journal

    Volume 273, Issue 8, April 2006, Pages: 1805–1820, Satoru Yokoyama, Kazuhisa Takeda and Shigeki Shibahara

    Article first published online : 31 MAR 2006, DOI: 10.1111/j.1742-4658.2006.05200.x

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    Review and update of mutations causing Waardenburg syndrome

    Human Mutation

    Volume 31, Issue 4, April 2010, Pages: 391–406, Véronique Pingault, Dorothée Ente, Florence Dastot-Le Moal, Michel Goossens, Sandrine Marlin and Nadège Bondurand

    Article first published online : 2 FEB 2010, DOI: 10.1002/humu.21211

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    Distant regulatory elements in a Sox10-βGEO BAC transgene are required for expression of Sox10 in the enteric nervous system and other neural crest-derived tissues

    Developmental Dynamics

    Volume 235, Issue 5, May 2006, Pages: 1413–1432, Karen K. Deal, V. Ashley Cantrell, Ronald L. Chandler, Thomas L. Saunders, Douglas P. Mortlock and E. Michelle Southard-Smith

    Article first published online : 3 APR 2006, DOI: 10.1002/dvdy.20769

  7. Establishment of myelinating schwann cells and barrier integrity between central and peripheral nervous systems depend on Sox10

    Glia

    Volume 60, Issue 5, May 2012, Pages: 806–819, Franziska Fröb, Magdalena Bremer, Markus Finzsch, Tatjana Kichko, Peter Reeh, Ernst R. Tamm, Patrick Charnay and Michael Wegner

    Article first published online : 15 FEB 2012, DOI: 10.1002/glia.22310

  8. Hirschsprung disease: a developmental disorder of the enteric nervous system

    Wiley Interdisciplinary Reviews: Developmental Biology

    Volume 2, Issue 1, January/February 2013, Pages: 113–129, Sonja J. McKeown, Lincon Stamp, Marlene M. Hao and Heather M. Young

    Article first published online : 24 APR 2012, DOI: 10.1002/wdev.57

  9. SOX10 mutations mimic isolated hearing loss

    Clinical Genetics

    V. Pingault, E. Faubert, V. Baral, S. Gherbi, N. Loundon, V. Couloigner, F. Denoyelle, N. Noël-Pétroff, H. Ducou Le Pointe, M. Elmaleh-Bergès, N. Bondurand and S. Marlin

    Article first published online : 6 NOV 2014, DOI: 10.1111/cge.12506

  10. A de novo SOX10 mutation causing severe type 4 Waardenburg syndrome without Hirschsprung disease

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 8, 15 April 2008, Pages: 1038–1041, Yves Sznajer, Cristina Coldéa, Françoise Meire, Isabelle Delpierre, Tayeb Sekhara and Renaud L. Touraine

    Article first published online : 17 MAR 2008, DOI: 10.1002/ajmg.a.32247

  11. Genetic and phenotypic heterogeneity in two novel cases of Waardenburg syndrome type IV

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 10, October 2009, Pages: 2296–2302, Antonio Viñuela, Matías Morín, Manuela Villamar, Constantino Morera, M. José Lavilla, Laura Cavallé, Miguel A. Moreno-Pelayo, Felipe Moreno and Ignacio del Castillo

    Article first published online : 16 SEP 2009, DOI: 10.1002/ajmg.a.33026

  12. Aplasia of cochlear nerves and olfactory bulbs in association with SOX10 mutation

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 3, March 2009, Pages: 431–436, C.P. Barnett, R. Mendoza-Londono, S. Blaser, J. Gillis, L. Dupuis, A.V. Levin, P.W. Chiang, E. Spector and W. Reardon

    Article first published online : 10 FEB 2009, DOI: 10.1002/ajmg.a.32657

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    Secrets to a healthy Sox life: lessons for melanocytes

    Pigment Cell Research

    Volume 18, Issue 2, April 2005, Pages: 74–85, Michael Wegner

    Article first published online : 22 FEB 2005, DOI: 10.1111/j.1600-0749.2005.00218.x

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    Advances in Molecular Genetics of Hirschsprung's Disease

    The Anatomical Record

    Volume 295, Issue 10, October 2012, Pages: 1628–1638, Zhi-Wen Pan and Ji-Cheng Li

    Article first published online : 19 JUL 2012, DOI: 10.1002/ar.22538

  15. WNT1 and WNT3a promote expansion of melanocytes through distinct modes of action

    Pigment Cell Research

    Volume 18, Issue 3, June 2005, Pages: 167–180, Karen Joyce Dunn, Matthew Brady, Christina Ochsenbauer-Jambor, Sara Snyder, Arturo Incao and William J. Pavan

    Article first published online : 22 APR 2005, DOI: 10.1111/j.1600-0749.2005.00226.x

  16. Transcription factors Sox10 and Sox2 functionally interact with positive transcription elongation factor b in Schwann cells

    Journal of Neurochemistry

    Volume 132, Issue 4, February 2015, Pages: 384–393, Juliane Arter and Michael Wegner

    Article first published online : 22 JAN 2015, DOI: 10.1111/jnc.13013

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    An Impairment of Long Distance SOX10 Regulatory Elements Underlies Isolated Hirschsprung Disease

    Human Mutation

    Volume 35, Issue 3, March 2014, Pages: 303–307, Laure Lecerf, Anthula Kavo, Macarena Ruiz-Ferrer, Viviane Baral, Yuli Watanabe, Asma Chaoui, Veronique Pingault, Salud Borrego and Nadege Bondurand

    Article first published online : 8 JAN 2014, DOI: 10.1002/humu.22499

  18. Phenotypic variability in Waardenburg syndrome resulting from a 22q12.3-q13.1 microdeletion involving SOX10

    American Journal of Medical Genetics Part A

    Volume 164, Issue 6, June 2014, Pages: 1512–1519, Brezo Jelena, Lam Christina, Vilain Eric and Quintero-Rivera Fabiola

    Article first published online : 8 APR 2014, DOI: 10.1002/ajmg.a.36446

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    Neural crest cells retain their capability for multipotential differentiation even after lineage-restricted stages

    Developmental Dynamics

    Volume 240, Issue 7, July 2011, Pages: 1681–1693, Tsutomu Motohashi, Katsumasa Yamanaka, Kairi Chiba, Kentaro Miyajima, Hitomi Aoki, Tomohisa Hirobe and Takahiro Kunisada

    Article first published online : 18 MAY 2011, DOI: 10.1002/dvdy.22658

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    Activation of Krox20 gene expression by Sox10 in myelinating Schwann cells

    Journal of Neurochemistry

    Volume 112, Issue 3, February 2010, Pages: 744–754, Simone Reiprich, Jana Kriesch, Silke Schreiner and Michael Wegner

    Article first published online : 17 NOV 2009, DOI: 10.1111/j.1471-4159.2009.06498.x