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Article

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

Biochemical and biophysical research communications - 3 Aug 2001

Jacquemin P, Lannoy V J, O'Sullivan J, Read A, Lemaigre F P, Rousseau G G

Abstract excerpt

Microphthalmia-associated transcription factor (MITF) is essential for melanocyte differentiation. MITF mutations are associated with some cases of Waardenburg syndrome (WS) type 2. WS is a dominantly inherited disease characterized by auditory-pigmentary defects that result from the absence of melanocytes. The lack of mutation in MITF coding sequences in some WS2 patients suggests that unidentified factors...

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Source

Identifiers

PMID: 11478782
DOI: 10.1006/bbrc.2001.5294

Genes

MITF

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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The transcription factor onecut-2 controls the microphthalmia-associated transcription factor gene.PMID 11478782Read ↗

Epistatic relationship between Waardenburg syndrome genes MITF and PAX3.Semantic proximity Read ↗

Wnt signaling pathway involvement in genotypic and phenotypic variations in Waardenburg syndrome type 2 with MITF mutations.Semantic proximity Read ↗

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

Microphthalmia-associated transcription factor (MITF): multiplicity in structure, function, and regulation.Semantic proximity Read ↗

A follow-up study of a Chinese family with Waardenburg syndrome type II caused by a truncating mutation of MITF gene.Semantic proximity Read ↗

Genomic analysis of the Microphthalmia locus and identification of the MITF-J/Mitf-J isoform.Semantic proximity Read ↗

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

Evidence to suggest that expression of MITF induces melanocyte differentiation and haploinsufficiency of MITF causes Waardenburg syndrome type 2A.Semantic proximity Read ↗

TFAP2 paralogs regulate melanocyte differentiation in parallel with MITF.Semantic proximity Read ↗

Functional analysis of a SOX10 gene mutation associated with Waardenburg syndrome II.Semantic proximity Read ↗

Identification of a distal enhancer for the melanocyte-specific promoter of the MITF gene.Semantic proximity Read ↗

Functional analysis of a nonstop mutation in MITF gene identified in a patient with Waardenburg syndrome type 2.Semantic proximity Read ↗

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