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There are 6196 results for: content related to: Congenital hypomyelinating neuropathy, central dysmyelination, and Waardenburg–Hirschsprung disease: Phenotypes linked by SOX10 mutation

  1. 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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    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

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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

  4. 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

  5. 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

  6. SOX10 mutation with peripheral amyelination and developmental disturbance of axons

    Muscle & Nerve

    Volume 45, Issue 2, February 2012, Pages: 284–290, Kathleen Parthey, Malte Kornhuber, Christian Kunze, Dorothea Wand, Kay W. Nolte, Stefan Nikolin, Joachim Weis and J. Michael Schröder

    Article first published online : 12 JAN 2012, DOI: 10.1002/mus.22262

  7. A de novo missense mutation in the gene encoding the SOX10 transcription factor in a Spanish sporadic case of Waardenburg syndrome type IV

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 8, 15 April 2008, Pages: 1032–1037, Matías Morín, Antonio Viñuela, Teresa Rivera, Manuela Villamar, Miguel A. Moreno-Pelayo, Felipe Moreno and Ignacio del Castillo

    Article first published online : 17 MAR 2008, DOI: 10.1002/ajmg.a.32181

  8. Pediatric case report: Clinical profile of a patient with PCWH with p.Q377X nonsense mutation in the SOX10 gene

    The Journal of Dermatology

    Volume 39, Issue 12, December 2012, Pages: 1022–1025, Tomoko Oshimo, Kazuyoshi Fukai, Yuko Abe, Yutaka Hozumi, Toshiaki Yokoi, Akemi Tanaka, Kiyofumi Yamanishi, Masamitsu Ishii and Tamio Suzuki

    Article first published online : 11 SEP 2012, DOI: 10.1111/j.1346-8138.2012.01671.x

  9. Sorting out Sox10 functions in neural crest development

    BioEssays

    Volume 28, Issue 8, August 2006, Pages: 788–798, Robert N. Kelsh

    Article first published online : 22 AUG 2006, DOI: 10.1002/bies.20445

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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

  11. 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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    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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    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

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    Isolation and live imaging of enteric progenitors based on Sox10-Histone2BVenus transgene expression

    genesis

    Volume 49, Issue 7, July 2011, Pages: 599–618, Jennifer C. Corpening, Karen K. Deal, V. Ashley Cantrell, Stephanie B. Skelton, Dennis P. Buehler and E. Michelle Southard-Smith

    Article first published online : 21 JUN 2011, DOI: 10.1002/dvg.20748

  15. 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

  16. Myelin deficiencies in both the central and the peripheral nervous systems associated with a SOX10 mutation

    Annals of Neurology

    Volume 46, Issue 3, September 1999, Pages: 313–318, Ken Inoue, Yuzo Tanabe and James R. Lupski

    Article first published online : 22 MAY 2001, DOI: 10.1002/1531-8249(199909)46:3<313::AID-ANA6>3.0.CO;2-7

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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

  18. 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

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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

  20. 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