FAQ

MITF wt Allele

Known as: bHLHe32, WS2A, Waardenburg Syndrome, Type 2A Gene 
Human MITF wild-type allele is located within 3p14.2-p14.1 and is approximately 229 kb in length. This allele, which encodes microphthalmia… (More)
National Institutes of Health

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1989-2017
0119892017

Related topics

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7 relations
Homo sapiensMast/Stem Cell Growth Factor Receptor Signaling PathwayMelanogenesisMelanogenesis Pathway
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Broader (1)

MITF gene

Related mentions per year

Related mentions per year

1937-2018
19401960198020002020
MITF wt Allele
Transcriptional Regulation
dna binding
Homo sapiens
Melanogenesis Pathway
Melanogenesis

Papers overview

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2018
2018
Manganese Dioxide Coated WS2 @Fe3 O4 /sSiO2 Nanocomposites for pH-Responsive MR Imaging and Oxygen-Elevated Synergetic Therapy.
Recently, the development of multifunctional theranostic nanoplatforms to realize tumor-specific imaging and enhanced cancer… (More)
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2017
2017
Creation of miniature pig model of human Waardenburg syndrome type 2A by ENU mutagenesis
Human Waardenburg syndrome 2A (WS2A) is a dominant hearing loss (HL) syndrome caused by mutations in the microphthalmia… (More)
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2013
2013
MITF mutations associated with pigment deficiency syndromes and melanoma have different effects on protein function.
The basic-helix-loop-helix-leucine zipper (bHLHZip) protein MITF (microphthalmia-associated transcription factor) is a master… (More)
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Review
2003
Review
2003
Microphthalmia-associated transcription factor in the Wnt signaling pathway.
Microphthalmia-associated transcription factor (MITF) contains a basic helix-loop-helix and leucine-zipper (bHLH-LZ) structure… (More)
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1998
1998
Mutation at the anophthalmic white locus in Syrian hamsters: haploinsufficiency in the Mitf gene mimics human Waardenburg syndrome type 2.
Mutations in MITF (microphthalmia transcription factor) cause Waardenburg syndrome type 2 (WS2A) in humans, an autosomal dominant… (More)
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1996
1996
Analyses of loss-of-function mutations of the MITF gene suggest that haploinsufficiency is a cause of Waardenburg syndrome type 2A.
Waardenburg syndrome type 2 (WS2) is a dominantly inherited disorder characterized by a pigmentation anomaly and hearing… (More)
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1990
1990
Cloning of the human genomic amiloride-sensitive Na+/H+ antiporter gene, identification of genetic polymorphisms, and localization on the genetic map of chromosome 1p.
We have cloned and mapped a 90-kb region spanning the human genomic amiloride-sensitive Na+/H+ antiporter gene on overlapping… (More)
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1989
1989
Unequal crossingover between homologous chromosomes is not the major mechanism involved in the generation of new alleles at VNTR loci.
To investigate the hypothesis that unequal exchange between homologous chromosomes is involved when new alleles are generated at… (More)
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