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waardenburg syndrome
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PAX3
Homeodomain proteins Mox1 and Mox2 associate with Pax1 and Pax3 transcription factors
MITF
Microphthalmia-associated transcription factor regulates RAB27A gene expression and controls melanosome transport
Identification of Aim-1 as the underwhite mouse mutant and its transcriptional regulation by MITF
The gene encoding the T-box factor Tbx2 is a target for the microphthalmia-associated transcription factor in melanocytes
Transcriptional regulation of the melanoma prognostic marker melastatin (TRPM1) by MITF in melanocytes and melanoma
Signaling and transcriptional regulation in the neural crest-derived melanocyte lineage: interactions between KIT and MITF
SNAI2
Localization of a neural crest transcription factor, Slug, to mouse chromosome 16 and human chromosome 8
Human SLUG gene organization, expression, and chromosome map location on 8q
The snail superfamily of zinc-finger transcription factors
SOX10
Exome sequencing reveals the likely involvement of SOX10 in uveal melanoma
Transcription factor hierarchy in Waardenburg syndrome: regulation of MITF expression by SOX10 and PAX3
Interaction among SOX10, PAX3 and MITF, three genes altered in Waardenburg syndrome
Sox10 and Pax3 physically interact to mediate activation of a conserved c-RET enhancer
EDNRB
Vascular endothelin receptor type B: structure, function and dysregulation in vascular disease
Endothelin
Cloning and chromosomal localization of a human endothelin ETA receptor
Epistatic connections between microphthalmia-associated transcription factor and endothelin signaling in Waardenburg syndrome and other pigmentary disorders
EDN3
Generation of human endothelin by cathepsin E.
cDNA cloning and chromosomal assignment of the gene encoding endothelin 3
TYR
Mammalin tyrosinase. Stoichiometry and measurement of reaction products
Polyphenol oxidases in plants and fungi: going places? A review
Pathways
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Melanogenesis
Homo sapiens (human)
3 genes
Clinical Trials
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External
Clinical, Cellular, and Molecular Investigation Into Oculocutaneous Albinism
Cancer Gene Census
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PAX3
Somatic tumors
alveolar rhabdomyosarcoma
Tumor types germline
Cancer Syndrom
Translocation partner
FOXO1, NCOA1, NCOA2
Name
paired box gene 3
Chromosome banding
2q35
Cancer molecular gen.
Dom
Mutation type
T
Other syndrome disease
Waardenburg syndrome; craniofacial-deafness-hand syndrome
Definition
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