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Items: 1 to 20 of 169

1.

Molecular basis of mouse microphthalmia (mi) mutations helps explain their developmental and phenotypic consequences.

Steingrímsson E, Moore KJ, Lamoreux ML, Ferré-D'Amaré AR, Burley SK, Zimring DC, Skow LC, Hodgkinson CA, Arnheiter H, Copeland NG, et al.

Nat Genet. 1994 Nov;8(3):256-63.

PMID:
7874168
2.

Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene.

Tassabehji M, Newton VE, Read AP.

Nat Genet. 1994 Nov;8(3):251-5.

PMID:
7874167
3.

Manifestations of microphthalmia.

Jackson IJ, Raymond S.

Nat Genet. 1994 Nov;8(3):209-10. No abstract available.

PMID:
7874158
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5.
6.

Mutations at the mouse microphthalmia locus are associated with defects in a gene encoding a novel basic-helix-loop-helix-zipper protein.

Hodgkinson CA, Moore KJ, Nakayama A, Steingrímsson E, Copeland NG, Jenkins NA, Arnheiter H.

Cell. 1993 Jul 30;74(2):395-404.

PMID:
8343963
7.

The semidominant Mi(b) mutation identifies a role for the HLH domain in DNA binding in addition to its role in protein dimerization.

Steingrímsson E, Nii A, Fisher DE, Ferré-D'Amaré AR, McCormick RJ, Russell LB, Burley SK, Ward JM, Jenkins NA, Copeland NG.

EMBO J. 1996 Nov 15;15(22):6280-9.

8.
9.

Mutation of the MITF gene in albinism-deafness syndrome (Tietz syndrome).

Amiel J, Watkin PM, Tassabehji M, Read AP, Winter RM.

Clin Dysmorphol. 1998 Jan;7(1):17-20.

PMID:
9546825
10.

Genomic, transcriptional and mutational analysis of the mouse microphthalmia locus.

Hallsson JH, Favor J, Hodgkinson C, Glaser T, Lamoreux ML, Magnúsdóttir R, Gunnarsson GJ, Sweet HO, Copeland NG, Jenkins NA, Steingrímsson E.

Genetics. 2000 May;155(1):291-300.

11.

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
12.

Cloning of MITF, the human homolog of the mouse microphthalmia gene and assignment to chromosome 3p14.1-p12.3.

Tachibana M, Perez-Jurado LA, Nakayama A, Hodgkinson CA, Li X, Schneider M, Miki T, Fex J, Francke U, Arnheiter H.

Hum Mol Genet. 1994 Apr;3(4):553-7.

PMID:
8069297
13.

Implications of isoform multiplicity of microphthalmia-associated transcription factor in the pathogenesis of auditory-pigmentary syndromes.

Shibahara S, Yasumoto K, Amae S, Fuse N, Udono T, Takahashi K.

J Investig Dermatol Symp Proc. 1999 Sep;4(2):101-4.

PMID:
10536982
15.

Mutations in microphthalmia, the mouse homolog of the human deafness gene MITF, affect neuroepithelial and neural crest-derived melanocytes differently.

Nakayama A, Nguyen MT, Chen CC, Opdecamp K, Hodgkinson CA, Arnheiter H.

Mech Dev. 1998 Jan;70(1-2):155-66.

PMID:
9510032
16.

A mouse model of Waardenburg syndrome type 4 with a new spontaneous mutation of the endothelin-B receptor gene.

Matsushima Y, Shinkai Y, Kobayashi Y, Sakamoto M, Kunieda T, Tachibana M.

Mamm Genome. 2002 Jan;13(1):30-5.

PMID:
11773966
17.

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
18.
19.

Mutation at the anophthalmic white locus in Syrian hamsters: haploinsufficiency in the Mitf gene mimics human Waardenburg syndrome type 2.

Hodgkinson CA, Nakayama A, Li H, Swenson LB, Opdecamp K, Asher JH Jr, Arnheiter H, Glaser T.

Hum Mol Genet. 1998 Apr;7(4):703-8.

20.

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
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