Similar articles for PMID: 17855451

Year	Number of Results
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1

Translation of SOX10 3' untranslated region causes a complex severe neurocristopathy by generation of a deleterious functional domain.

Inoue K, Ohyama T, Sakuragi Y, Yamamoto R, Inoue NA, Yu LH, Goto Y, Wegner M, Lupski JR. Inoue K, et al. Hum Mol Genet. 2007 Dec 15;16(24):3037-46. doi: 10.1093/hmg/ddm262. Epub 2007 Sep 13. Hum Mol Genet. 2007. PMID: 17855451

2

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

Chan KK, Wong CK, Lui VC, Tam PK, Sham MH. Chan KK, et al. J Cell Biochem. 2003 Oct 15;90(3):573-85. doi: 10.1002/jcb.10656. J Cell Biochem. 2003. PMID: 14523991

3

Congenital hypomyelinating neuropathy, central dysmyelination, and Waardenburg-Hirschsprung disease: phenotypes linked by SOX10 mutation.

Inoue K, Shilo K, Boerkoel CF, Crowe C, Sawady J, Lupski JR, Agamanolis DP. Inoue K, et al. Ann Neurol. 2002 Dec;52(6):836-42. doi: 10.1002/ana.10404. Ann Neurol. 2002. PMID: 12447940

4

SOX10 mutations in patients with Waardenburg-Hirschsprung disease.

Pingault V, Bondurand N, Kuhlbrodt K, Goerich DE, Préhu MO, Puliti A, Herbarth B, Hermans-Borgmeyer I, Legius E, Matthijs G, Amiel J, Lyonnet S, Ceccherini I, Romeo G, Smith JC, Read AP, Wegner M, Goossens M. Pingault V, et al. Nat Genet. 1998 Feb;18(2):171-3. doi: 10.1038/ng0298-171. Nat Genet. 1998. PMID: 9462749

5

The importance of having your SOX on: role of SOX10 in the development of neural crest-derived melanocytes and glia.

Mollaaghababa R, Pavan WJ. Mollaaghababa R, et al. Oncogene. 2003 May 19;22(20):3024-34. doi: 10.1038/sj.onc.1206442. Oncogene. 2003. PMID: 12789277 Review.

6

SOX10 structure-function analysis in the chicken neural tube reveals important insights into its role in human neurocristopathies.

Cossais F, Wahlbuhl M, Kriesch J, Wegner M. Cossais F, et al. Hum Mol Genet. 2010 Jun 15;19(12):2409-20. doi: 10.1093/hmg/ddq124. Epub 2010 Mar 21. Hum Mol Genet. 2010. PMID: 20308050

7

Neuroglial disorders of central and peripheral nervous systems in a patient with Hirschsprung's disease carrying allelic SOX10 truncating mutation.

Shimotake T, Tanaka S, Fukui R, Makino S, Maruyama R. Shimotake T, et al. J Pediatr Surg. 2007 Apr;42(4):725-31. doi: 10.1016/j.jpedsurg.2006.12.003. J Pediatr Surg. 2007. PMID: 17448776

8

Functional difference of the SOX10 mutant proteins responsible for the phenotypic variability in auditory-pigmentary disorders.

Yokoyama S, Takeda K, Shibahara S. Yokoyama S, et al. J Biochem. 2006 Oct;140(4):491-9. doi: 10.1093/jb/mvj177. Epub 2006 Aug 18. J Biochem. 2006. PMID: 16921166

9

The Sox10(Dom) mouse: modeling the genetic variation of Waardenburg-Shah (WS4) syndrome.

Southard-Smith EM, Angrist M, Ellison JS, Agarwala R, Baxevanis AD, Chakravarti A, Pavan WJ. Southard-Smith EM, et al. Genome Res. 1999 Mar;9(3):215-25. Genome Res. 1999. PMID: 10077527 Free article.

10

Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations.

Inoue K, Khajavi M, Ohyama T, Hirabayashi S, Wilson J, Reggin JD, Mancias P, Butler IJ, Wilkinson MF, Wegner M, Lupski JR. Inoue K, et al. Nat Genet. 2004 Apr;36(4):361-9. doi: 10.1038/ng1322. Epub 2004 Mar 7. Nat Genet. 2004. PMID: 15004559

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