Associated Papers
Mild features of partial PAX3 deletion in patients with prenatal Waardenburg syndrome: a case report and literature review.
Chen Q et al.
Frontiers in Pediatrics, 2025
Deciphering potential causative factors for undiagnosed Waardenburg syndrome through multi-data integration.
Sun F et al.
Orphanet Journal of Rare Diseases, 2024
38844942 (PubMed )
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Waardenburg syndrome: Novel mutations in a large Brazilian sample.
Bocángel MAP et al.
European Journal of Medical Genetics, 2018
Neural tube defects in Waardenburg syndrome: A case report and review of the literature.
Hart J et al.
American Journal of Medical Genetics. Part A, 2017
A new missense mutation in the paired domain of the mouse Pax3 gene.
Ohno T et al.
Experimental Animals, 2017
The PAX3 paired domain and homeodomain function as a single binding module in vivo to regulate subnuclear localization and mobility by a mechanism that requires base-specific recognition.
Corry GN et al.
Journal of Molecular Biology, 2010
Lymphoid enhancer factor-1 mediates loading of Pax3 to a promoter harbouring lymphoid enhancer factor-1 binding sites resulting in enhancement of transcription.
Christova T et al.
The International Journal of Biochemistry & Cell Biology, 2010
Subnuclear localization and mobility are key indicators of PAX3 dysfunction in Waardenburg syndrome.
Corry GN et al.
Human Molecular Genetics, 2008
Cooperative interactions between the two DNA binding domains of Pax3: helix 2 of the paired domain is in the proximity of the amino terminus of the homeodomain.
Apuzzo S et al.
Biochemistry, 2007
The paired domain of Pax3 contains a putative homeodomain interaction pocket defined by cysteine scanning mutagenesis.
Apuzzo S et al.
Biochemistry, 2006
Cross-talk between the paired domain and the homeodomain of Pax3: DNA binding by each domain causes a structural change in the other domain, supporting interdependence for DNA Binding.
Apuzzo S et al.
The Journal of Biological Chemistry, 2004
Three novel PAX3 mutations observed in patients with Waardenburg syndrome type 1.
Soejima H et al.
Human Mutation, 1997
PAX3 gene structure and mutations: close analogies between Waardenburg syndrome and the Splotch mouse.
Tassabehji M et al.
Human Molecular Genetics, 1994
[Gene responsible for Waardenburg syndrome type I].
Tsukamoto K et al.
Tanpakushitsu Kakusan Koso. Protein, Nucleic Acid, Enzyme, 1993
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