Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 Mitfmi-enu122 is a missense mutation in the HLH dimerization domain.

Literature DB >> 9501313

Mitfmi-enu122 is a missense mutation in the HLH dimerization domain.

E Steingrímsson¹, J Favor, A F Ferré-D'Amaré, N G Copeland, N A Jenkins.

Abstract

Mesh：

Substances：

Year: 1998 PMID： 9501313 DOI： 10.1007/s003359900736

Source DB: PubMed Journal: Mamm Genome ISSN： 0938-8990 Impact factor: 2.957

× No keyword cloud information.

14 in total

1. The recessive phenotype displayed by a dominant negative microphthalmia-associated transcription factor mutant is a result of impaired nucleation potential.

Authors: K Takebayashi; K Chida; I Tsukamoto; E Morii; H Munakata; H Arnheiter; T Kuroki; Y Kitamura; S Nomura
Journal: Mol Cell Biol Date: 1996-03 Impact factor: 4.272

2. Recognition by Max of its cognate DNA through a dimeric b/HLH/Z domain.

Authors: A R Ferré-D'Amaré; G C Prendergast; E B Ziff; S K Burley
Journal: Nature Date: 1993-05-06 Impact factor: 49.962

3. microphthalmia, a critical factor in melanocyte development, defines a discrete transcription factor family.

Authors: T J Hemesath; E Steingrímsson; G McGill; M J Hansen; J Vaught; C A Hodgkinson; H Arnheiter; N G Copeland; N A Jenkins; D E Fisher
Journal: Genes Dev Date: 1994-11-15 Impact factor: 11.361

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

Authors: E Steingrímsson; A Nii; D E Fisher; A R Ferré-D'Amaré; R J McCormick; L B Russell; S K Burley; J M Ward; N A Jenkins; N G Copeland
Journal: EMBO J Date: 1996-11-15 Impact factor: 11.598

Mitfmi-enu122 is a missense mutation in the HLH dimerization domain.

1. The recessive phenotype displayed by a dominant negative microphthalmia-associated transcription factor mutant is a result of impaired nucleation potential.

2. Recognition by Max of its cognate DNA through a dimeric b/HLH/Z domain.

3. microphthalmia, a critical factor in melanocyte development, defines a discrete transcription factor family.

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

5. Spectrum of Bmp5 mutations from germline mutagenesis experiments in mice.

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

7. A helix-loop-helix transcription factor-like gene is located at the mi locus.

8. The mutational spectrum in Waardenburg syndrome.

Review 9. Insight into the microphthalmia gene.

10. Structure and function of the b/HLH/Z domain of USF.

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

2. mitfa is required at multiple stages of melanocyte differentiation but not to establish the melanocyte stem cell.