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Article

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

Journal of pediatric hematology/oncology - 1 Aug 2010

Shigemura Tomonari, Shiohara Masaaki, Tanaka Miyuki, Takeuchi Kouichi, Koike Kenichi

Abstract excerpt

SUMMARY: Mutations in microphthalmia-associated transcription factor (MITF) lead to Waardenburg syndrome type 2 (WS2), a dominantly inherited disorder involving hearing loss and pigment disturbances caused by a lack of melanocytes. On rare occasions, mutations in MITF lead to Tietz syndrome (TS), which is characterized by a severe WS2 phenotype. The MITF gene is the human homolog of the mouse microphthalmia (mi)...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 20485200
DOI: 10.1097/MPH.0b013e3181d9da5d

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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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Effect of the mutant microphthalmia-associated transcription factor found in Tietz syndrome on the in vitro development of mast cells.PMID 20485200Read ↗

Genomic, transcriptional and mutational analysis of the mouse microphthalmia locus.Semantic proximity Read ↗

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

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

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

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

Melanocytes and the microphthalmia transcription factor network.Semantic proximity Read ↗

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

MITF: a stream flowing for pigment cells.Semantic proximity Read ↗

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

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

The transcription factor onecut-2 controls the microphthalmia-associated transcription factor gene.Semantic proximity Read ↗

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