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Items: 1 to 20 of 203

1.

Transcription factor hierarchy in Waardenburg syndrome: regulation of MITF expression by SOX10 and PAX3.

Potterf SB, Furumura M, Dunn KJ, Arnheiter H, Pavan WJ.

Hum Genet. 2000 Jul;107(1):1-6.

PMID:
10982026
2.

Interaction among SOX10, PAX3 and MITF, three genes altered in Waardenburg syndrome.

Bondurand N, Pingault V, Goerich DE, Lemort N, Sock E, Le Caignec C, Wegner M, Goossens M.

Hum Mol Genet. 2000 Aug 12;9(13):1907-17.

PMID:
10942418
3.

Regulation of the microphthalmia-associated transcription factor gene by the Waardenburg syndrome type 4 gene, SOX10.

Verastegui C, Bille K, Ortonne JP, Ballotti R.

J Biol Chem. 2000 Oct 6;275(40):30757-60.

4.

Sox10 and Pax3 physically interact to mediate activation of a conserved c-RET enhancer.

Lang D, Epstein JA.

Hum Mol Genet. 2003 Apr 15;12(8):937-45.

PMID:
12668617
5.

Identification of a distal enhancer for the melanocyte-specific promoter of the MITF gene.

Watanabe K, Takeda K, Yasumoto K, Udono T, Saito H, Ikeda K, Takasaka T, Takahashi K, Kobayashi T, Tachibana M, Shibahara S.

Pigment Cell Res. 2002 Jun;15(3):201-11.

PMID:
12028584
6.

Functional analysis of Waardenburg syndrome-associated PAX3 and SOX10 mutations: report of a dominant-negative SOX10 mutation in Waardenburg syndrome type II.

Zhang H, Chen H, Luo H, An J, Sun L, Mei L, He C, Jiang L, Jiang W, Xia K, Li JD, Feng Y.

Hum Genet. 2012 Mar;131(3):491-503. doi: 10.1007/s00439-011-1098-2. Epub 2011 Oct 1.

PMID:
21965087
7.

Epistatic relationship between Waardenburg syndrome genes MITF and PAX3.

Watanabe A, Takeda K, Ploplis B, Tachibana M.

Nat Genet. 1998 Mar;18(3):283-6.

PMID:
9500554
8.

Mouse models for four types of Waardenburg syndrome.

Tachibana M, Kobayashi Y, Matsushima Y.

Pigment Cell Res. 2003 Oct;16(5):448-54. Review.

PMID:
12950719
9.

The mutational spectrum in Waardenburg syndrome.

Tassabehji M, Newton VE, Liu XZ, Brady A, Donnai D, Krajewska-Walasek M, Murday V, Norman A, Obersztyn E, Reardon W, et al.

Hum Mol Genet. 1995 Nov;4(11):2131-7.

PMID:
8589691
10.
11.
12.

A sensitized mutagenesis screen identifies Gli3 as a modifier of Sox10 neurocristopathy.

Matera I, Watkins-Chow DE, Loftus SK, Hou L, Incao A, Silver DL, Rivas C, Elliott EC, Baxter LL, Pavan WJ.

Hum Mol Genet. 2008 Jul 15;17(14):2118-31. doi: 10.1093/hmg/ddn110. Epub 2008 Apr 7.

13.

[Hereditary hypomelanocytoses: the role of PAX3, SOX10, MITF, SNAI2, KIT, EDN3 and EDNRB genes].

Otręba M, Miliński M, Buszman E, Wrześniok D, Beberok A.

Postepy Hig Med Dosw (Online). 2013 Nov 26;67:1109-18. Review. Polish.

14.

Sumoylation of the SOX10 transcription factor regulates its transcriptional activity.

Girard M, Goossens M.

FEBS Lett. 2006 Mar 6;580(6):1635-41. Epub 2006 Feb 17.

15.

Pax3 is required for enteric ganglia formation and functions with Sox10 to modulate expression of c-ret.

Lang D, Chen F, Milewski R, Li J, Lu MM, Epstein JA.

J Clin Invest. 2000 Oct;106(8):963-71.

16.

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.

Genome Res. 1999 Mar;9(3):215-25.

17.

Novel mutations of PAX3, MITF, and SOX10 genes in Chinese patients with type I or type II Waardenburg syndrome.

Chen H, Jiang L, Xie Z, Mei L, He C, Hu Z, Xia K, Feng Y.

Biochem Biophys Res Commun. 2010 Jun 18;397(1):70-4. doi: 10.1016/j.bbrc.2010.05.066. Epub 2010 May 15.

PMID:
20478267
18.

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

Yokoyama S, Takeda K, Shibahara S.

J Biochem. 2006 Oct;140(4):491-9. Epub 2006 Aug 18.

PMID:
16921166
19.

Direct interaction of Sox10 with the promoter of murine Dopachrome Tautomerase (Dct) and synergistic activation of Dct expression with Mitf.

Jiao Z, Mollaaghababa R, Pavan WJ, Antonellis A, Green ED, Hornyak TJ.

Pigment Cell Res. 2004 Aug;17(4):352-62.

PMID:
15250937
20.

Sox10 mutation disrupts neural crest development in Dom Hirschsprung mouse model.

Southard-Smith EM, Kos L, Pavan WJ.

Nat Genet. 1998 Jan;18(1):60-4.

PMID:
9425902

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