ArticleAmerican journal of human genetics1995
Further elucidation of the genomic structure of PAX3, and identification of two different point mutations within the PAX3 homeobox that cause Waardenburg syndrome type 1 in two families.
Article in American journal of human genetics, 1995. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
12 citing papers in PubMed, 39 citations in OpenAlex.
- PAX3: A Driver of Normal Development and Disease.Biomolecules · 2026Review
- Analysis of genotype-phenotype relationships in 90 Chinese probands with Waardenburg syndrome.Human genetics · 2022Article
- Pax3 isoforms in sensory neurogenesis: expression and function in the ophthalmic trigeminal placode.Developmental dynamics : an official publication of the American Association of Anatomists · 2014Article
- Leucophores are similar to xanthophores in their specification and differentiation processes in medaka.Proceedings of the National Academy of Sciences of the United States of America · 2014Article
- Diabetes and apoptosis: neural crest cells and neural tube.Apoptosis : an international journal on programmed cell death · 2009Review
- Mouse H6 Homeobox 1 (Hmx1) mutations cause cranial abnormalities and reduced body mass.BMC developmental biology · 2009Article
- The zebrafish bonnie and clyde gene encodes a Mix family homeodomain protein that regulates the generation of endodermal precursors.Genes & development · 2000Article
- Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse.Nature genetics · 1998Article
- Septo-optic dysplasia and WS1 in the proband of a WS1 family segregating for a novel mutation in PAX3 exon 7.Journal of medical genetics · 1998Article
- Waardenburg syndrome.Journal of medical genetics · 1997Review
- The incidence of deafness is non-randomly distributed among families segregating for Waardenburg syndrome type 1 (WS1).Journal of medical genetics · 1997Review
- Cardiac outflow tract septation failure in Pax3-deficient embryos is due to p53-dependent regulation of migrating cardiac neural crest.Mechanisms of developmentArticle
Corrections and comments
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Waardenburg syndrome is an autosomal dominant disorder characterized by sensorineural deafness and pigmentary disturbances. Previous work has linked the disease to PAX3 on chromosome 2, and several mutations within the highly conserved paired-box and octapeptide motifs, but not the homeobox, have been reported. In this report, we have used the published cDNA sequence to further define the genomic structure of PAX3, using inverse PCR. We have identified exon/intron boundaries between exons 5 and 6 and between exons 6 and 7. Further, we have identified the first two mutations within the homeobox in two different families with type 1 Waardenburg syndrome. The first is a point mutation (G-->T) at the first base of exon 6, which substitutes phenylalanine for valine. In another family, we have identified a point mutation (C-->G) within the homebox, in exon 6, which substitutes a glycine for arginine at a highly conserved site. The homeodomain is important in binding of DNA and in effecting transcriptional control. These mutations likely result in structural change within the homeodomain that either change the DNA-binding specificity of the homedomain or reduce the affinity of the PAX3 protein for DNA. These homeodomain mutations should aid in elucidating the role of the homeodomain in the function of the PAX3 protein.
Indexed as
Identifiers
7825605PMC1801294W1922799898What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.