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Items: 1 to 20 of 90

1.

Functional analysis of MITF gene mutations associated with Waardenburg syndrome type 2.

Zhang H, Luo H, Chen H, Mei L, He C, Jiang L, Li JD, Feng Y.

FEBS Lett. 2012 Nov 30;586(23):4126-31. doi: 10.1016/j.febslet.2012.10.006. Epub 2012 Oct 23.

2.

Effect of the mutant microphthalmia-associated transcription factor found in Tietz syndrome on the in vitro development of mast cells.

Shigemura T, Shiohara M, Tanaka M, Takeuchi K, Koike K.

J Pediatr Hematol Oncol. 2010 Aug;32(6):442-7. doi: 10.1097/MPH.0b013e3181d9da5d.

PMID:
20485200
3.

[Analysis of nuclear localization and signal function of MITF protein predisposing to Warrdenburg syndrome].

Zhang H, Feng J, Chen H, Li J, Luo H, Feng Y.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015 Dec;32(6):805-9. doi: 10.3760/cma.j.issn.1003-9406.2015.06.011. Chinese.

PMID:
26663053
5.

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.

6.
7.

Screening of MITF and SOX10 regulatory regions in Waardenburg syndrome type 2.

Baral V, Chaoui A, Watanabe Y, Goossens M, Attie-Bitach T, Marlin S, Pingault V, Bondurand N.

PLoS One. 2012;7(7):e41927. doi: 10.1371/journal.pone.0041927. Epub 2012 Jul 27.

8.

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
9.

MITF mutations associated with pigment deficiency syndromes and melanoma have different effects on protein function.

Grill C, Bergsteinsdóttir K, Ogmundsdóttir MH, Pogenberg V, Schepsky A, Wilmanns M, Pingault V, Steingrímsson E.

Hum Mol Genet. 2013 Nov 1;22(21):4357-67. doi: 10.1093/hmg/ddt285. Epub 2013 Jun 20.

10.

Genetic and phenotypic heterogeneity in Chinese patients with Waardenburg syndrome type II.

Yang S, Dai P, Liu X, Kang D, Zhang X, Yang W, Zhou C, Yang S, Yuan H.

PLoS One. 2013 Oct 23;8(10):e77149. doi: 10.1371/journal.pone.0077149. eCollection 2013.

11.

Melanocyte-specific microphthalmia-associated transcription factor isoform activates its own gene promoter through physical interaction with lymphoid-enhancing factor 1.

Saito H, Yasumoto K, Takeda K, Takahashi K, Fukuzaki A, Orikasa S, Shibahara S.

J Biol Chem. 2002 Aug 9;277(32):28787-94. Epub 2002 Jun 4.

12.

[Molecular pathogenesis of Waardenburg syndrome type II resulting from SOX10 gene mutation].

Zhang H, Chen H, Feng Y, Qian M, Li J, Liu J, Zhang C.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2016 Aug;33(4):466-70. doi: 10.3760/cma.j.issn.1003-9406.2016.04.008. Chinese.

PMID:
27454999
13.

A novel mutation in the MITF may be digenic with GJB2 mutations in a large Chinese family of Waardenburg syndrome type II.

Yan X, Zhang T, Wang Z, Jiang Y, Chen Y, Wang H, Ma D, Wang L, Li H.

J Genet Genomics. 2011 Dec 20;38(12):585-91. doi: 10.1016/j.jgg.2011.11.003. Epub 2011 Nov 22.

PMID:
22196401
14.

Ser298 of MITF, a mutation site in Waardenburg syndrome type 2, is a phosphorylation site with functional significance.

Takeda K, Takemoto C, Kobayashi I, Watanabe A, Nobukuni Y, Fisher DE, Tachibana M.

Hum Mol Genet. 2000 Jan 1;9(1):125-32.

PMID:
10587587
15.

Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2.

Zazo Seco C, Serrão de Castro L, van Nierop JW, Morín M, Jhangiani S, Verver EJ, Schraders M, Maiwald N, Wesdorp M, Venselaar H, Spruijt L, Oostrik J, Schoots J; Baylor-Hopkins Center for Mendelian Genomics., van Reeuwijk J, Lelieveld SH, Huygen PL, Insenser M, Admiraal RJ, Pennings RJ, Hoefsloot LH, Arias-Vásquez A, de Ligt J, Yntema HG, Jansen JH, Muzny DM, Huls G, van Rossum MM, Lupski JR, Moreno-Pelayo MA, Kunst HP, Kremer H.

Am J Hum Genet. 2015 Nov 5;97(5):647-60. doi: 10.1016/j.ajhg.2015.09.011. Epub 2015 Oct 29.

16.

[Mutation screening of MITF gene in patients with Waardenburg syndrome type 2].

Chen J, Yang SZ, Liu J, Han B, Wang GJ, Zhang X, Kang DY, Dai P, Young WY, Yuan HJ.

Yi Chuan. 2008 Apr;30(4):433-8. Chinese.

PMID:
18424413
17.

Novel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes.

Léger S, Balguerie X, Goldenberg A, Drouin-Garraud V, Cabot A, Amstutz-Montadert I, Young P, Joly P, Bodereau V, Holder-Espinasse M, Jamieson RV, Krause A, Chen H, Baumann C, Nunes L, Dollfus H, Goossens M, Pingault V.

Eur J Hum Genet. 2012 May;20(5):584-7. doi: 10.1038/ejhg.2011.234. Epub 2012 Jan 18.

18.

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
19.

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
20.

The transcription factor onecut-2 controls the microphthalmia-associated transcription factor gene.

Jacquemin P, Lannoy VJ, O'Sullivan J, Read A, Lemaigre FP, Rousseau GG.

Biochem Biophys Res Commun. 2001 Aug 3;285(5):1200-5.

PMID:
11478782

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